[ { "uniprot_canonical_ac": "Q04727-1", "uniprot_id": "TLE4_HUMAN", "mass": 83755.0, "length": 773, "protein_name": "Transducin-like enhancer protein 4", "gene_name": "TLE4", "organism": "Human", "refseq_name": "transducin-like enhancer protein 4 isoform 1", "refseq_ac": "NP_001269677", "gene_names_uniprotkb": "TLE4; GRG4; KIAA1261", "gene_names_refseq": "BCE-1; BCE1; E(spI); E(spl); ESG4; ESG; GRG4; Grg-4; TLE4", "protein_names_uniprotkb": "Transducin-like enhancer protein 4; Grg-4; Groucho-related protein 4", "protein_names_refseq": "B lymphocyte gene 1; enhancer of split groucho 4; groucho-related protein 4; transducin like enhancer of split 4; transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila); transducin-like enhancer of split 4, homolog of Drosophila E(sp1); transducin-like enhancer protein 4 isoform 1; transducin-like enhancer protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:7091); (R-HSA-201722); (R-HSA-2122947); (R-HSA-3769402); (R-HSA-4641265)", "pathway_count": 5, "publication_count": 213, "publication_id_list": "10080941;10375506;10485845;10549281;10559189;10713164;10769018;10775268;10831834;10898789;10919662;10921920;10944533;10964718;11044625;11050151;11080158;11136974;11237011;11266540;11290324;11461910;11532957;11585921;11691915;11713476;11934263;11955446;11973335;11988739;12050117;12163411;12391150;12408824;12408825;12711682;12712206;1303260;14600025;14685266;14695187;14980219;15060161;15107403;15121853;15132997;15187083;15294866;15327769;15525529;15546612;15768032;15829968;16005293;16169192;16256737;16510874;16530044;16547505;16630820;16756492;17052462;17081983;17114293;17218525;17412698;17425782;17428831;17458864;17698607;17875931;18094723;18160704;18254933;18347063;18374649;18378692;18404694;18456656;18498752;18573912;18598779;18621708;18669648;18721877;18767875;18819930;19047045;19148484;19364920;19413330;19460168;19487454;19493659;19571879;19590513;19608861;19651622;19664994;19664995;19690332;19928349;19940019;20058876;20405012;20972443;21406692;21429299;21606357;21654818;21726809;22009320;22186018;22190459;22304967;22617422;22982193;23186163;23256519;23481700;23783831;24275569;24291232;24366607;24676634;25576301;25645385;26154972;26811146;26992070;27486062;27600516;27920218;28218747;28228285;28262390;28446606;28657654;28832583;28834231;29237092;29242379;29351928;29393594;29485866;29493099;29557506;29632711;29786170;30059200;30315122;30379171;30429286;30620550;31217245;31492838;31844290;32157095;32387766;32502341;32574038;32897882;32938616;32938750;32983136;33123756;33298915;33592498;33691108;33936100;33968037;33981976;34019948;34171305;34509645;34846842;34932366;35051231;35099008;35132862;35138101;35254053;35318648;35513511;35580925;35705054;36010968;36241641;37541260;37938771;38665916;38838015;39302247;40136647;40307207;7566092;7588063;8001118;8365415;8649374;8687460;8756721;8757136;8955148;9118222;9488439;9490669;9694793;9751710;9783587;9819412;9843967;9887105", "class_list": "", "function": "Genes TGFB1, TLE4 and MUC22 are associated with the risk of childhood asthma in Chinese population., [RefSeq, PubMed]; TLE4 regulates muscle stem cell quiescence and skeletal muscle differentiation., [RefSeq, PubMed]; The loss of TLE4 confers proliferative advantage to leukemic cells, simultaneous with an upregulation of a pro- inflammatory signature mediated through aberrant increases in Wnt signaling activity, [RefSeq, PubMed]; Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by PAX5, and by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES. Essential for the transcriptional repressor activity of SIX3 during retina and lens development and for SIX3 transcriptional auto-repression (By similarity). Involved in transcriptional repression of GNRHR and enhances MSX1-mediated transcriptional repression of CGA/alpha-GSU (By similarity)., [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": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "F8W6T6;Q3ZCS1;Q5T1Y2;Q6PCB3;Q9BZ07;Q9BZ08;Q9BZ09;Q9NSL3;Q9ULF9", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003714 transcription corepressor activity;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:1990907 beta-catenin-TCF complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0016055 Wnt signaling pathway;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 23.0, "record_id": "Q04727-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12870-1", "uniprot_id": "TCF15_HUMAN", "mass": 20816.0, "length": 199, "protein_name": "Transcription factor 15", "gene_name": "TCF15", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TCF15; BHLHA40; BHLHEC2", "gene_names_refseq": "", "protein_names_uniprotkb": "Transcription factor 15; Class A basic helix-loop-helix protein 40; Paraxis; Protein bHLH-EC2; TCF-15; bHLHa40", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:6939)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "28514659;28832583;28904123;30315122;8041747", "class_list": "", "function": "Early transcription factor that plays a key role in somitogenesis, paraxial mesoderm development and regulation of stem cell pluripotency. Essential for the mesenchymal to epithelial transition associated with somite formation. Required for somite morphogenesis, thereby regulating patterning of the axial skeleton and skeletal muscles. Required for proper localization of somite epithelium markers during the mesenchymal to epithelial transition. Also plays a key role in regulation of stem cell pluripotency. Promotes pluripotency exit of embryonic stem cells (ESCs) by priming ESCs for differentiation. Acts as a key regulator of self-renewal of hematopoietic stem cells (HSCs) by mediating HSCs quiescence and long-term self-renewal. Together with MEOX2, regulates transcription in heart endothelial cells to regulate fatty acid transport across heart endothelial cells. Acts by forming a heterodimer with another helix-loop-helix (bHLH) protein, such as TCF3/E12, that binds DNA on E-box motifs (5'-CANNTG-3') and activates transcription of target genes., [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": "Q9NQQ1", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0016607 nuclear speck;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:1902037 negative regulation of hematopoietic stem cell differentiation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q12870-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15542-1", "uniprot_id": "TAF5_HUMAN", "mass": 86830.0, "length": 800, "protein_name": "Transcription initiation factor TFIID subunit 5", "gene_name": "TAF5", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 5 isoform 1", "refseq_ac": "NP_008882", "gene_names_uniprotkb": "TAF5; TAF2D", "gene_names_refseq": "TAF(II)100; TAF2D; TAF5; TAFII-100; TAFII100", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 5; TAF(II)100; TAFII-100; TAFII100; Transcription initiation factor TFIID 100 kDa subunit", "protein_names_refseq": "TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa; TATA box binding protein (TBP)-associated factor 2D; TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD; transcription initiation factor TFIID 100 kD subunit; transcription initiation factor TFIID 100 kDa subunit; transcription initiation factor TFIID subunit 5 isoform 1; transcription initiation factor TFIID subunit 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:6877); (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": 168, "publication_id_list": "10022900;10024882;10199401;10373431;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;12601814;12676794;12702766;12851404;12914926;1310361;14701755;14702041;15053879;1535687;15489290;15866171;16239144;16308568;16322561;16901896;17108107;17227857;17349958;1739980;17591690;18079403;1829677;18490454;19121998;1939271;19667075;19965871;20457598;20959462;2125285;21317932;22137580;22231121;22252320;22441827;23000554;23166507;23481700;23485397;23676219;23932780;24097444;24145406;24270878;24397554;24489103;2449431;24714562;24874608;24997600;25576301;25675981;25892735;26375851;26728094;26811146;26992070;27862975;28218747;28228285;28832583;28834231;28904123;29242379;29351928;29393594;29437277;2944599;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;31154438;31844290;32161166;32357974;32488085;32502341;32897882;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33795473;33912179;33968037;34019948;34185709;34561969;35051231;35580925;36010968;37938771;39894887;40596516;7151173;7601352;7660122;7660129;7660130;7715707;8156590;8253082;8330735;8339931;8370526;8465201;8490964;8628262;8647434;8668525;8758937;8942982;8946909;9009278;9045704;9153304;9188510;9256425;9353262;9405375;9407024;9450929;9489704;9705341;9832505;9925639", "class_list": "", "function": "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 an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]; Results show that nonproductive binding of OGG1 to 8-oxoG in promoter sequences could be an epigenetic mechanism to modulate gene expression for a prompt innate immune response., [RefSeq, PubMed]; TAF5 protein demonstrates the ability of the N-terminal half of the TAF5 gene to form a flexible, extended dimer, a key property required for the assembly of the TFIID complex, [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, PubMed:8758937, PubMed:8942982, PubMed:9045704). The TFIID complex structure can be divided into 3 modules TFIID-A, TFIID-B, and TFIID-C (PubMed:33795473). TAF5 is involved in two modules of TFIID, in TFIID-A together with TAF3 and TBP, and in TFIID-B with TAF8 (PubMed:33795473). Involved in contacts between TFIID and TFIIF in the PIC (PubMed:33795473)., [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": 15, "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": "A8K5B4;B2RMR0;B7ZKJ6;Q53EM4;Q5SYD5;Q86UZ7;Q9Y4K5", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0033276 transcription factor TFTC complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0005669 transcription factor TFIID 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:0045893 positive regulation of DNA-templated transcription;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0042789 mRNA transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "Q15542-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16473-1", "uniprot_id": "TENXA_HUMAN", "mass": 33740.0, "length": 311, "protein_name": "Putative tenascin-XA", "gene_name": "TNXA", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TNXA; XA", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative tenascin-XA; TN-XA", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "12121677;12354783;1373808", "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:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q16473-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5H9L4-1", "uniprot_id": "TAF7L_HUMAN", "mass": 52588.0, "length": 462, "protein_name": "Transcription initiation factor TFIID subunit 7-like", "gene_name": "TAF7L", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 7-like isoform 2", "refseq_ac": "NP_001161946", "gene_names_uniprotkb": "TAF7L; TAF2Q", "gene_names_refseq": "CT40; TAF2Q; TAF7L", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 7-like; CT40; Cancer/testis antigen 40; RNA polymerase II TBP-associated factor subunit Q; TATA box-binding protein-associated factor 50 kDa; Transcription initiation factor TFIID 50 kDa subunit", "protein_names_refseq": "RNA polymerase II TBP-associated factor subunit Q; TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa; TATA box-binding protein-associated factor 50 kDa; TBP-associated factor, RNA polymerase II, Q; cancer/testis antigen 40; transcription initiation factor TFIID 50 kDa subunit; transcription initiation factor TFIID subunit 7-like isoform 2", "tax_id": 9606, "disease": "oligospermia (Disease Ontology:DOID:14228)", "pathway": " (hsa:54457); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-674695); (R-HSA-6804756); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-76042)", "pathway_count": 10, "publication_count": 80, "publication_id_list": "10024882;10199401;10435622;10500146;10570149;10604467;10673500;10673501;10710310;10723029;10884347;11239457;11279525;11433015;11447225;11486021;11511362;11546806;11551930;11739720;11740489;11780126;11784853;11859374;11884399;12064478;12393879;12676794;12702766;12851404;12914926;1310361;14702041;15053879;15489290;15866171;16322561;16597641;17108107;17349958;17591690;17714218;18490454;19121998;1939271;19965871;20959462;21317932;23000554;23292864;23485397;23676219;24145406;2449431;24874608;27600516;28832583;28834231;29307603;29557506;35554494;36068176;36714566;7151173;7601352;7660122;7660129;7660130;8156590;8330735;8370526;8465201;8490964;8946909;9256425;9353262;9405375;9450929;9489704;9925639", "class_list": "", "function": "Deleterious variants in TAF7L cause human oligoasthenoteratozoospermia and its impairing histone to protamine exchange inducing reduced in vitro fertilization. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of AURKC, OIP5, PIWIL2 and TAF7L differed between patients with Acute myeloid leukemia, myelodysplastic syndrome and healthy controls in a gender-dependent manner, [RefSeq, PubMed]; Identification of a missense mutation (D136G) in the X-linked TAF7L gene as a potential cause of oligozoospermia in men., [RefSeq, PubMed]; Probably functions as a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. May play a role in spermatogenesis (By similarity)., [UniProtKB]; TAF7L gene polymorphisms were found in male infertility patients and normal controls., [RefSeq, PubMed]; The association of testis-specific hTAF7L gene variants with idiopathic azoospermic and severe oligozoospermic male infertility., [RefSeq, PubMed]; The sequence variant in exon 13 of the TAF7L gene located on the X chromosome may represent a risk factor for spermatogenic failure., [RefSeq, PubMed]; These findings support a putative role of TAF7L in tumor suppression, [RefSeq, PubMed]; This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 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": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5H9L6;Q86XI4;Q9BXU5;Q9H5R0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0051123 RNA polymerase II preinitiation complex assembly", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q5H9L4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6DHY5-1", "uniprot_id": "TBC3G_HUMAN", "mass": 62231.0, "length": 549, "protein_name": "TBC1 domain family member 3G", "gene_name": "TBC1D3G", "organism": "Human", "refseq_name": "TBC1 domain family member 3G", "refseq_ac": "NP_001278391", "gene_names_uniprotkb": "TBC1D3G", "gene_names_refseq": "TBC1D3G", "protein_names_uniprotkb": "TBC1 domain family member 3G", "protein_names_refseq": "TBC1 domain family member 3G; TBC1 domain family member-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:101060321)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "21030649", "class_list": "", "function": "Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (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": 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": "A8K8H9", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6DHY5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NUS6-1", "uniprot_id": "TECT3_HUMAN", "mass": 66157.0, "length": 607, "protein_name": "Tectonic-3", "gene_name": "TCTN3", "organism": "Human", "refseq_name": "tectonic-3 isoform b precursor", "refseq_ac": "NP_001137445", "gene_names_uniprotkb": "TCTN3; C10orf61; PRO4324; PSEC0041; TECT3", "gene_names_refseq": "C10orf61; JBTS18; OFD4; TCTN3; TECT3", "protein_names_uniprotkb": "Tectonic-3", "protein_names_refseq": "tectonic-3 isoform b precursor", "tax_id": 9606, "disease": "orofaciodigital syndrome IV (Disease Ontology:DOID:0060374); Joubert syndrome 18 (Disease Ontology:DOID:0110987)", "pathway": " (hsa:26123); (R-HSA-5620912)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;16357211;17464193;17574030;17646400;17719545;18037885;18694559;18801063;19004860;19081074;19940019;20230748;20308558;20399632;20558667;21273506;21422230;21548880;21565611;21620453;21725307;21792235;22179047;22433857;22653444;22883145;23141531;23141541;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;24053599;24089205;24190977;24231678;24469809;24714562;24715725;24982133;25047611;25313408;25576301;25645385;25880248;25892735;26154972;26728094;26811146;26992070;27377014;27600516;27846572;27920218;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29769354;29786170;30315122;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33098376;33141586;33298915;33592498;33912179;33968037;34087483;34561969;35051231;35251023;36010968;36039988;36241641;36284347;37074911", "class_list": "", "function": "A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV., [RefSeq, PubMed]; Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly., [RefSeq, PubMed]; Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway., [UniProtKB, PubMed, PubMed]; TCTN3 mutations cause Mohr-Majewski syndrome., [RefSeq, PubMed]; This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]., [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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 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": 24, "reported_interactions": 0, "missing_score": 9409, "biomarker_type": "", "glycan_count": 11, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NIC8;B0QZ90;B4DR81;Q6P7P3;Q6UW27;Q6ZQQ0;Q8N7K1;Q8NBQ0;Q96GF7;Q9Y3U1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0060170 ciliary membrane;GO:0035869 ciliary transition zone", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0060271 cilium assembly;GO:0007224 smoothened signaling pathway;GO:1904491 protein localization to ciliary transition zone", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q6NUS6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UE05-1", "uniprot_id": "TM270_HUMAN", "mass": 29433.0, "length": 265, "protein_name": "Transmembrane protein 270", "gene_name": "TMEM270", "organism": "Human", "refseq_name": "transmembrane protein 270", "refseq_ac": "NP_872310", "gene_names_uniprotkb": "TMEM270; WBSCR28", "gene_names_refseq": "TMEM270; WBSCR28", "protein_names_uniprotkb": "Transmembrane protein 270; Williams-Beuren syndrome chromosomal region 28 protein", "protein_names_refseq": "Williams-Beuren syndrome chromosome region 28; Williams-Beuren syndrome critical region 28; transmembrane protein 270; williams-Beuren syndrome chromosomal region 28 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:135886)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "18398435;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": 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": "Q6UE04;Q8NHP4", "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": "Q6UE05-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IY51-1", "uniprot_id": "TIGD4_HUMAN", "mass": 57468.0, "length": 512, "protein_name": "Tigger transposable element-derived protein 4", "gene_name": "TIGD4", "organism": "Human", "refseq_name": "tigger transposable element-derived protein 4", "refseq_ac": "NP_663772", "gene_names_uniprotkb": "TIGD4", "gene_names_refseq": "TIGD4", "protein_names_uniprotkb": "Tigger transposable element-derived protein 4", "protein_names_refseq": "tigger transposable element-derived protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:201798)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "17525332;29351928;31154438;31844290;32161166;32983136;33912179;33968037;34171305;36215666", "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": 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": "Q96LP5", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8IY51-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N6I4-1", "uniprot_id": "LYSET_HUMAN", "mass": 18747.0, "length": 163, "protein_name": "Lysosomal enzyme trafficking factor", "gene_name": "LYSET", "organism": "Human", "refseq_name": "lysosomal enzyme trafficking factor isoform 2", "refseq_ac": "NP_056491", "gene_names_uniprotkb": "LYSET; C14orf109; TMEM251", "gene_names_refseq": "C14orf109; DMAN; GCAF; LYSET; TMEM251", "protein_names_uniprotkb": "Lysosomal enzyme trafficking factor; GCAF; GNPTAB cleavage and activity factor; Transmembrane protein 251", "protein_names_refseq": "GNPTAB cleavage and activity factor; UPF0694 transmembrane protein C14orf109; lysosomal enzyme trafficking factor isoform 2; transmembrane protein 251", "tax_id": 9606, "disease": "mucolipidosis (Disease Ontology:DOID:0080488); dysostosis multiplex, Ain-Naz type (MONDO:MONDO:0859156)", "pathway": " (hsa:26175)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "29393594;29632046;30524438;31844290;32157095;32265295;32897882;33252156;36074821;36074822;36096887;36633450", "class_list": "", "function": "(Microbial infection) Essential for infection by muliple viruses, including SARS-CoV-2, that utilize activated cathepsins for entry after M6P-dependent lysosomal transport., [UniProtKB, PubMed]; Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature., [RefSeq, PubMed]; LYSET/TMEM251- a novel key component of the mannose 6-phosphate pathway., [RefSeq, PubMed]; Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins., [RefSeq, PubMed]; Required for mannose-6-phosphate-dependent trafficking of lysosomal enzymes (PubMed:36074821, PubMed:36074822, PubMed:36096887). LYSET bridges GlcNAc-1-phosphate transferase (GNPTAB), to the membrane-bound transcription factor site-1 protease (MBTPS1), thus allowing proteolytic activation of the GNPTAB. GNPTAB is involved in the regulation of M6P-dependent Golgi-to-lysosome trafficking of lysosomal enzymes (PubMed:36074821, PubMed:36074822, PubMed:36096887). LYSET is thus an essential factor for maturation and delivery of lysosomal hydrolases (PubMed:36074822)., [UniProtKB, PubMed, PubMed, PubMed]; The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "J3KQ65;Q9Y4S5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0031985 Golgi cisterna", "go_biological_process": "GO:0007040 lysosome organization;GO:0060627 regulation of vesicle-mediated transport;GO:0007041 lysosomal transport", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8N6I4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N7C4-1", "uniprot_id": "TM217_HUMAN", "mass": 26582.0, "length": 229, "protein_name": "Transmembrane protein 217", "gene_name": "TMEM217", "organism": "Human", "refseq_name": "transmembrane protein 217 isoform 3", "refseq_ac": "NP_001273330", "gene_names_uniprotkb": "TMEM217; C6orf128", "gene_names_refseq": "C6orf128; TMEM217; dJ355M6.2", "protein_names_uniprotkb": "Transmembrane protein 217", "protein_names_refseq": "transmembrane protein 217 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:221468)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19204726;29242379;30379171;34357683;35051231;35580925", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 5, "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": "Q8TC54", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8N7C4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NBN3-1", "uniprot_id": "GPHCC_HUMAN", "mass": 63430.0, "length": 555, "protein_name": "Golgi-pH regulating cation channel", "gene_name": "TMEM87A", "organism": "Human", "refseq_name": "transmembrane protein 87A isoform 2 precursor", "refseq_ac": "NP_001103973", "gene_names_uniprotkb": "TMEM87A; GOLPHCAT; PSEC0094", "gene_names_refseq": "ELKIN1; GOLPHCAT; TMEM87A", "protein_names_uniprotkb": "Golgi-pH regulating cation channel; Elkin1", "protein_names_refseq": "transmembrane protein 87A isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:25963); (R-HSA-8980692)", "pathway_count": 2, "publication_count": 214, "publication_id_list": "10.1101/2023.09.13.557529;10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12531887;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15302935;15342493;15485661;15601624;15611138;15850391;15866170;16112081;16116428;16184169;16217026;16303743;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;17077126;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18578522;18669648;18691976;18829452;19349973;19413330;19494238;19605563;19635168;19651622;19673492;19690332;19713215;20030946;20058876;20068231;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21406692;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22673745;22911862;22992742;23200924;23255595;23434736;23572525;23870313;24086303;24128008;24190977;24259668;24275569;24335996;24352656;24933155;25211221;25502872;25645385;25704760;25880248;25892735;26157166;26371245;26529257;26887924;27145964;27216196;27481945;27600516;27986909;28112683;28196833;28228285;28584191;28904123;29146911;29242379;29314611;29557506;29632711;29741879;29769354;29789417;31105010;31611695;31844290;31871319;32157095;32203420;32228863;32350084;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33717175;33936100;33981976;34087483;34171305;34185709;34357683;34433824;34932366;35051231;35154160;35251023;35289036;36241641;36581221;37074911;38422143;38992057;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": "GolpHCat (TMEM87A), a unique voltage-dependent cation channel in Golgi apparatus, contributes to Golgi-pH maintenance and hippocampus-dependent memory. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM87a/Elkin1, a component of a novel mechanoelectrical transduction pathway, modulates melanoma adhesion and migration. Publication Status: Online-Only, [RefSeq, PubMed]; Touch sensation requires the mechanically gated ion channel ELKIN1., [RefSeq, PubMed]; Voltage- and pH-dependent, inwardly rectifying cation channel that mediates ion flux across the Golgi membrane, supporting luminal acidification necessary for normal Golgi morphology and function (PubMed:38992057). Implicated in normal touch sensitivity through the generation of mechanically activated currents (PubMed:32228863, PubMed:38422143). Could also be involved in cell mechanosensitivity regulating cell adhesion and migration (PubMed:32228863). May also be involved in retrograde transport from endosomes to the trans-Golgi network (TGN) (PubMed:26157166). Contributes to hippocampal spatial and contextual memory by maintaining Golgi function and structural integrity in hippocampal neurons (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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 41, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6NT77;Q8NCA4;Q9BS46;Q9P103;Q9Y3Y7", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0008308 voltage-gated monoatomic anion channel activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0050976 detection of mechanical stimulus involved in sensory perception of touch;GO:0071260 cellular response to mechanical stimulus;GO:0042147 retrograde transport, endosome to Golgi;GO:0051452 intracellular pH reduction", "synthesized_glycan_count": 0, "hit_score": 26.2, "record_id": "Q8NBN3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96B21-1", "uniprot_id": "TM45B_HUMAN", "mass": 31826.0, "length": 275, "protein_name": "Transmembrane protein 45B", "gene_name": "TMEM45B", "organism": "Human", "refseq_name": "transmembrane protein 45B", "refseq_ac": "NP_001318139", "gene_names_uniprotkb": "TMEM45B", "gene_names_refseq": "TMEM45B", "protein_names_uniprotkb": "Transmembrane protein 45B", "protein_names_refseq": "transmembrane protein 45B", "tax_id": 9606, "disease": "", "pathway": " (hsa:120224)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "18452278;18691976;20112406;25576301;27108650;29393594;29557506;29769354;29803169;30249106;31092671;32157095;32983136;33968037;35938871;36284347", "class_list": "", "function": "Increased expression of TMEM45B appears to be significantly associated with prostate carcinoma progression and metastasis, [RefSeq, PubMed]; Plays a role in innate immunity (PubMed:35938871). Mechanistically, promotes alphaviruses RNA degradation by interacting with the viral polymerase nsP4 and the mRNA-capping enzyme nsP1 and thereby interfering with the interaction between viral RNA and nsP1 (PubMed:35938871). Essential for inflammation- and tissue injury-induced mechanical pain hypersensitivity (By similarity)., [UniProtKB, UniProtKB, PubMed]; TMEM45B expression was significantly upregulated in pancreatic cancer tissues and cell lines. Moreover, TMEM45B was significantly positively correlated with the cell cycle and metastasis up pathways and regulated expression of proteins involved. This indicates an important role of TMEM45B in pancreatic cancer carcinogenesis., [RefSeq, PubMed]; TMEM45B may be a new potent therapeutic molecule for the treatment of gastric cancer., [RefSeq, PubMed]; TMEMu45B Interacts with Sindbis Virus Nsp1 and Nsp4 and Inhibits Viral Replication., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K2L8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005765 lysosomal membrane;GO:0010008 endosome membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0045087 innate immune response;GO:0048265 response to pain", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96B21-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96DA6-1", "uniprot_id": "TIM14_HUMAN", "mass": 12499.0, "length": 116, "protein_name": "Mitochondrial import inner membrane translocase subunit TIM14", "gene_name": "DNAJC19", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit TIM14 isoform 2", "refseq_ac": "NP_001177162", "gene_names_uniprotkb": "DNAJC19; TIM14; TIMM14", "gene_names_refseq": "DNAJC19; PAM18; TIM14; TIMM14", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit TIM14; DnaJ homolog subfamily C member 19", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 19; DnaJ-like protein subfamily C member 19; homolog of yeast TIM14; mitochondrial import inner membrane translocase subunit TIM14 isoform 2; mitochondrial import inner membrane translocase subunit TIM14", "tax_id": 9606, "disease": "3-methylglutaconic aciduria type 5 (Disease Ontology:DOID:0110000)", "pathway": " (hsa:131118); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "11237011;12592411;14726512;15254020;15644312;15683237;16055927;16185709;16849325;17244376;17510655;18174896;18678864;19409522;19453276;19767391;19962426;20068231;20593814;21750375;23041349;23186163;23597483;23811401;25315652;26697887;27330077;28832583;29242379;29393594;29786170;31844290;31848261;32157095;32350084;33592498;34357683;35051231;35251023;35318648;38142971", "class_list": "", "function": "Both DnaJC15 and DnaJC19 formed two distinct subcomplexes with Magmas at the import channel., [RefSeq, PubMed]; Dilated cardiomyopathy caused by homozygous mutations in a novel gene, DNAJC19, presumed to play a role in importation of mitochondrial proteins., [RefSeq, PubMed]; Mitochondrial co-chaperone which forms a complex with prohibitins to regulate cardiolipin remodeling (By similarity). May be a component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. May act as a co-chaperone that stimulate the ATP-dependent activity (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes., [RefSeq, PubMed]; The association of dilated cardiomyopathy with ataxia (DCMA) syndrome with a segment of 3q26.33 and the identification of a splice mutation in a novel gene DNAJC19 in DCMA patients., [RefSeq, PubMed]; The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [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": 2, "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": "B2R4B1;C9JBV1", "ec_number_list": "", "go_molecular_function": "GO:0001671 ATPase activator activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane;GO:0032991 protein-containing complex;GO:0099617 matrix side of mitochondrial inner membrane", "go_biological_process": "GO:0048806 genitalia development;GO:0006886 intracellular protein transport;GO:0007601 visual perception;GO:0006626 protein targeting to mitochondrion;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q96DA6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96K49-1", "uniprot_id": "TM87B_HUMAN", "mass": 63536.0, "length": 555, "protein_name": "Transmembrane protein 87B", "gene_name": "TMEM87B", "organism": "Human", "refseq_name": "transmembrane protein 87B isoform 1 precursor", "refseq_ac": "NP_116213", "gene_names_uniprotkb": "TMEM87B", "gene_names_refseq": "TMEM87B", "protein_names_uniprotkb": "Transmembrane protein 87B", "protein_names_refseq": "transmembrane protein 87B isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:84910)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19690332;20058876;20068231;21406692;21654843;24190977;24275569;24694933;25418920;25502872;25576301;25892735;26157166;26992070;27148590;28228285;28411811;28832583;28834231;28904123;29242379;29314611;29557506;29632711;29741879;29769354;29786170;30315122;30429286;31217245;31844290;32157095;32350084;32488085;32983136;33298915;33592498;33691108;33912179;33968037;34357683;34932366;35051231;35154160;35251023;35580925;37074911", "class_list": "", "function": "Heterozygous loss of FBLN7 and TMEM87B account for some of the clinical features, including cardiac defects and craniofacial abnormalities associated with 2q13 deletion syndrome., [RefSeq, PubMed]; May be involved in retrograde transport from endosomes to the trans-Golgi network (TGN)., [UniProtKB, PubMed]; This gene encodes a protein that may interact with human papillomavirus type 18 E6 oncogene. The protein is also likely to be involved in endosome-to-trans-Golgi network retrograde transport. The gene is expressed in adult and fetal tissues, including brain and heart. This gene is a component of the 2q13 deletion syndrome. Mutations in this gene may be associated with congenital heart defects. [provided by RefSeq, Aug 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": 3, "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": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K2M9;Q1RLN2;Q53R54", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0032580 Golgi cisterna membrane;GO:0016020 membrane", "go_biological_process": "GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q96K49-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96RJ0-1", "uniprot_id": "TAAR1_HUMAN", "mass": 39092.0, "length": 339, "protein_name": "Trace amine-associated receptor 1", "gene_name": "TAAR1", "organism": "Human", "refseq_name": "trace amine-associated receptor 1", "refseq_ac": "NP_612200", "gene_names_uniprotkb": "TAAR1; TA1; TAR1; TRAR1", "gene_names_refseq": "TA1; TAAR1; TAR1; TRAR1", "protein_names_uniprotkb": "Trace amine-associated receptor 1; TaR-1; Trace amine receptor 1", "protein_names_refseq": "trace amine receptor 1; trace amine-associated receptor 1", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:134864); (R-HSA-375280); (R-HSA-418555)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "11007482;11459929;11723224;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15718104;15765929;15769620;15951850;16313925;16687412;16923326;17168849;17218486;18044684;18577758;18828673;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24687066;24715725;2491850;2553411;2553705;26417854;2871555;29443750;29602314;30833991;3127824;31279028;31399091;31399635;31983287;32226383;32497535;32540603;32618402;32715661;33049737;36100653;37935376;37935377;37963465;38168118;6085243;8340388;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "Intracellular G protein-coupled receptor for trace amines, which recognizes endogenous amine-containing metabolites such as beta-phenylethylamine (beta-PEA), 3-iodothyronamine (T1AM), isoamylamine (IAA), cadaverine (CAD), cyclohexylamine (CHA), p-tyramine (p-TYR), trimethylamine (TMA), octopamine and tryptamine (PubMed:11459929, PubMed:11723224, PubMed:15718104, PubMed:31399635, PubMed:36100653, PubMed:37935376, PubMed:37935377, PubMed:37963465, PubMed:38168118). Also functions as a receptor for various drugs and psychoactive substances, such as amphetamine and methamphetamine (PubMed:31399635, PubMed:37935376, PubMed:37935377). Unresponsive to classical biogenic amines, such as epinephrine and histamine and only partially activated by dopamine and serotonin (PubMed:11459929, PubMed:11723224). Expressed in both the central and peripheral nervous system: TAAR1 activation regulates the activity of several neurotransmitter signaling pathways by (1) decreasing the basal firing rates of the neurons involved and by (2) lowering the sensitivity of receptors to neurotransmitters (PubMed:37935376, PubMed:37935377, PubMed:37963465, PubMed:38168118). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors (PubMed:31399635, PubMed:37935376, PubMed:37963465). TAAR1 is coupled with different G(i)/G(o)-, G(s)- or G(q)/G(11) classes of G alpha proteins depending on the ligand (PubMed:31399635, PubMed:37935376, PubMed:37963465). CAD-binding is coupled to G(i)/G(o) G alpha proteins and mediates inhibition of adenylate cyclase activity (PubMed:37935376, PubMed:37963465). T1AM- or beta-PEA-binding is coupled to G(s) G alpha proteins and mediates activation of adenylate cyclase activity (PubMed:37935376, PubMed:37963465). CHA- or IAA-binding is coupled to G(q)/G(11) G alpha proteins and activates phospholipase C-beta, releasing diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) second messengers (PubMed:37935376, PubMed:37963465). TMA-binding is coupled with all three G(i)/G(o)-, G(s)- or G(q)/G(11) G alpha protein subtypes (PubMed:37935376, PubMed:37963465). Amphetamine-binding is coupled with G(s)- or G(12)/G(13) G alpha protein subtypes (PubMed:31399635)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Molecular basis of human trace amine-associated receptor 1 activation. Publication Status: Online-Only, [RefSeq, PubMed]; Structural and signaling mechanisms of TAAR1 enabled preferential agonist design., [RefSeq, PubMed]; The protein encoded by this gene is a G-protein coupled receptor activated by trace amines. The encoded protein responds little or not at all to dopamine, serotonin, epinephrine, or histamine, but responds well to beta-phenylethylamine, p-tyramine, octopamine, and tryptamine. While primarily functioning in neurologic systems, there is evidence that this gene is involved in blood cell and immunologic functions as well. This gene is thought to be intronless. [provided by RefSeq, Nov 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 35, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q2M1W5;Q3MIH8;Q5VUQ1", "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:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q96RJ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99595-1", "uniprot_id": "TI17A_HUMAN", "mass": 18024.0, "length": 171, "protein_name": "Mitochondrial import inner membrane translocase subunit Tim17-A", "gene_name": "TIMM17A", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit Tim17-A", "refseq_ac": "NP_006326", "gene_names_uniprotkb": "TIMM17A; MIMT17; TIM17A; TIM17; TIMM17", "gene_names_refseq": "TIM17A; TIM17; TIMM17A", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit Tim17-A; Inner membrane preprotein translocase Tim17a", "protein_names_refseq": "inner membrane preprotein translocase Tim17a; mitochondrial import inner membrane translocase subunit Tim17-A; mitochondrial inner membrane translocase; preprotein translocase; translocase of inner mitochondrial membrane 17 homolog A", "tax_id": 9606, "disease": "", "pathway": " (hsa:10440); (R-HSA-1268020); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 121, "publication_id_list": "10339406;11923310;12198491;14623864;14726512;15254020;15522782;15644312;15683237;15870080;16115876;16185709;16849325;17101804;17297443;17510655;17579211;18174896;18678864;18826960;19409522;19453276;19767391;19841671;19962426;20593814;21750375;22262461;22710082;23041349;23201127;23263864;23481700;23597483;23811401;23931759;24315374;24520911;24714562;25315652;25880248;26154972;26375851;26504172;26697887;26728094;26923599;26992070;27496948;27642048;27846572;27920218;28218747;28228285;28377575;28396416;28832583;28904123;29242379;29301859;29393594;29437277;29557506;29632046;29786170;29932645;30120231;30315122;30429286;30484775;30524438;30779550;31154438;31217245;31222486;31327635;31344855;31695197;31844290;31848261;31937595;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33257573;33297490;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34704252;34943861;35051231;35561310;35580925;35870450;36010968;36215666;36241641;36284347;36629048;37527780;37938771;38632467;7623837;8893850", "class_list": "", "function": "Central role of Tim17 in mitochondrial presequence protein translocation., [RefSeq, PubMed]; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane., [UniProtKB, PubMed]; TIMM17A overexpression in lung adenocarcinoma and its association with prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; Tim17 Updates: A Comprehensive Review of an Ancient Mitochondrial Protein Translocator. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Tim17 is a conserved suppressor of mtDNA instability., [RefSeq, PubMed]; We also confirmed that lncRNA NEAT1 was up-regulated in breast cancer and inhibited the expression of miR-133b, and identified the mitochondrial protein translocase of inner mitochondrial membrane 17 homolog A (TIMM17A) that serves as the target of miR-133b. Erratum:[Int J Mol Sci. 2020 Jul 30;21(15):E5414. doi: 10.3390/ijms21155414. PMID: 32825207] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDM5;Q9BWF5", "ec_number_list": "", "go_molecular_function": "GO:0008320 protein transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005744 TIM23 mitochondrial import inner membrane translocase complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006626 protein targeting to mitochondrion;GO:0030150 protein import into mitochondrial matrix", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q99595-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99805-1", "uniprot_id": "TM9S2_HUMAN", "mass": 75776.0, "length": 663, "protein_name": "Transmembrane 9 superfamily member 2", "gene_name": "TM9SF2", "organism": "Human", "refseq_name": "transmembrane 9 superfamily member 2 precursor", "refseq_ac": "NP_004791", "gene_names_uniprotkb": "TM9SF2", "gene_names_refseq": "Lnc-PCIR; P76; TM9SF2", "protein_names_uniprotkb": "Transmembrane 9 superfamily member 2; p76", "protein_names_refseq": "76 kDa membrane protein; LncRNA Positively Correlated with Inflammatory Responses; dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 2; epididymis secretory sperm binding protein; transmembrane 9 superfamily member 2 precursor; transmembrane protein 9 superfamily member 2", "tax_id": 9606, "disease": "acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:9375)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "11237011;23481700;25502872;25576301;25892735;26992070;27600516;27846572;28063628;28218747;28228285;28404855;28467828;28832583;28855257;28871256;28904123;29242379;29314611;29317506;29331515;29437277;29493099;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30484775;30996093;31217245;31530632;31541081;31844290;31848261;32161166;32350084;32357974;32387766;32488085;32938616;32983136;33043033;33091337;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34171305;34357683;34433824;34561969;34725712;34932366;35051231;35083852;35154160;35251023;35561310;35580925;36010968;36215666;36241641;36284347;38218914;38665916;9729438", "class_list": "", "function": "Among the genes enriched in this screening, the authors found that TM9SF2 is critical for N-sulfation of heparan sulfate and therefore for chikungunya virus infection because it is involved in the proper localization and stability of NDST1. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of sulfur metabolism-related gene signature in osteoarthritis and TM9SF2's sustenance effect on M2 macrophages' phagocytic activity. Publication Status: Online-Only, [RefSeq, PubMed]; In the intracellular compartments, may function as a channel or small molecule transporter., [UniProtKB, PubMed]; LINC01232 exerts oncogenic activities in pancreatic adenocarcinoma via regulation of TM9SF2. Publication Status: Online-Only, [RefSeq, PubMed]; Study validated EXT1, TM9SF2, and TMED10 as important host factors for vaccinia virus infection. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K399;Q2TAY5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0006672 ceramide metabolic process;GO:0072657 protein localization to membrane;GO:0010908 regulation of heparan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q99805-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BRR3-1", "uniprot_id": "PGAP4_HUMAN", "mass": 46588.0, "length": 403, "protein_name": "GPI-N-acetylgalactosamine transferase PGAP4", "gene_name": "PGAP4", "organism": "Human", "refseq_name": "GPI-N-acetylgalactosamine transferase PGAP4", "refseq_ac": "NP_001290036", "gene_names_uniprotkb": "PGAP4; C9orf125; TMEM246", "gene_names_refseq": "C9orf125; PGAP4; TMEM246", "protein_names_uniprotkb": "GPI-N-acetylgalactosamine transferase PGAP4; 2.4.1.-; GPI-GalNAc transferase PGAP4; Post-GPI attachment to proteins GalNAc transferase 4; Post-GPI attachment to proteins factor 4; Transmembrane protein 246", "protein_names_refseq": "GPI-GalNAc transferase PGAP4; GPI-N-acetylgalactosamine transferase PGAP4; post-GPI attachment to proteins factor 4; transmembrane protein 246; transmembrane protein C9orf125", "tax_id": 9606, "disease": "", "pathway": " (hsa:84302)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "25576301;26992070;27862975;28834231;29242379;29374258;30573663;31844290;31848261;35051231;37938771", "class_list": "", "function": "Golgi-resident glycosylphosphatidylinositol (GPI)-N-acetylgalactosamine transferase that catalyzes the N-acetyl-beta-D-galactosamine transfer from an UDP-N-acetyl-alpha-D-galactosamine to the 4-OH-position of the first mannose of the glycosylphosphatidylinositol (GPI) of a GPI-anchored protein (GPI-AP) (PubMed:29374258). This modification occurs after the fatty acid remodeling step of the GPI-anchor maturation (PubMed:29374258)., [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": 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": 18, "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": "Q49AQ4", "ec_number_list": "2.4.1.-", "go_molecular_function": "GO:0016757 glycosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BRR3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NX78-1", "uniprot_id": "TM260_HUMAN", "mass": 79536.0, "length": 707, "protein_name": "Protein O-mannosyl-transferase TMEM260", "gene_name": "TMEM260", "organism": "Human", "refseq_name": "protein O-mannosyl-transferase TMEM260 precursor", "refseq_ac": "NP_060269", "gene_names_uniprotkb": "TMEM260; C14orf101", "gene_names_refseq": "C14orf101; SHDRA; TMEM260", "protein_names_uniprotkb": "Protein O-mannosyl-transferase TMEM260; 2.4.1.109; Transmembrane protein 260", "protein_names_refseq": "UPF0679 protein C14orf101; protein O-mannosyl-transferase TMEM260 precursor; protein O-mannosyl-transferase TMEM260", "tax_id": 9606, "disease": "non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0081312); stomach cancer (Disease Ontology:DOID:10534); structural heart defects and renal anomalies syndrome (MONDO:MONDO:0044321)", "pathway": " (hsa:54916)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;24190977;24831772;26811146;28318500;28904123;29557506;30429286;31217245;31844290;32157095;32387766;32488085;32938616;33912179;34612517;35051231;35580925;37074911;37186866;38351237;38409496", "class_list": "", "function": "Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects., [RefSeq, PubMed]; Data indicate that rs4901706, located in the 3' UTR of C14orf101, was shown to be independently related to overall survival in non-Hodgkin lymphoma (NHL)., [RefSeq, PubMed]; Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population. Erratum:[J Hum Genet. 2024 May;69(5):185. doi: 10.1038/s10038-024-01245-6. PMID: 38548934], [RefSeq, PubMed]; O-mannosyl-transferase that transfers mannosyl residues to the hydroxyl group of serine or threonine residues of proteins (PubMed:37186866). Specifically glycosylates the IPT/TIG domain of target proteins, such as MET and MST1R/RON (PubMed:37186866). TMEM260-mediated O-mannosylated residues are composed of single mannose glycans that are not elongated or modified (PubMed:37186866)., [UniProtKB, PubMed]; Study showed that truncating mutations in TMEM260 cause a syndrome characterized by central nervous sustem, cardiac, renal, and axial skeletal defects. Notably, the homozygous truncating mutations found in the two families affected specifically one of the two splice isoforms generated by this locus, arguing specificity in the phenotypic driver., [RefSeq, PubMed]; The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase., [RefSeq, PubMed]; The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease. Erratum:[J Hum Genet. 2024 May;69(5):223. doi: 10.1038/s10038-024-01238-5. PMID: 38459226], [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": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8KAN4;B3KPF5;Q0VAA1;Q86XE1", "ec_number_list": "2.4.1.109", "go_molecular_function": "GO:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9NX78-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYV7-1", "uniprot_id": "T2R16_HUMAN", "mass": 33986.0, "length": 291, "protein_name": "Taste receptor type 2 member 16", "gene_name": "TAS2R16", "organism": "Human", "refseq_name": "taste receptor type 2 member 16", "refseq_ac": "NP_058641", "gene_names_uniprotkb": "TAS2R16", "gene_names_refseq": "BGLPT; T2R16; TAS2R16", "protein_names_uniprotkb": "Taste receptor type 2 member 16; T2R16", "protein_names_refseq": "candidate taste receptor T2R16; taste receptor type 2 member 16; taste receptor, type 2, member 16", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741)", "pathway": " (hsa:50833); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 88, "publication_id_list": "10761934;10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12379855;12581520;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15576628;15738140;15759003;15951850;16051168;16385453;16634148;16720576;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;24715725;2534964;25853419;26377607;27071541;2748346;28256214;2834384;28915899;29466837;29614098;29659026;29744740;30013099;30563861;31154438;31186454;32987926;34975834;35051231;35580925;38111140;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Association of TAS2R16 gene (rs860170, rs978739, rs1357949) polymorphisms and TAS2R16 serum levels in patients with age-related macular degeneration., [RefSeq, PubMed]; Dual binding mode of ''bitter sugars'' to their human bitter taste receptor target. Publication Status: Online-Only, [RefSeq, PubMed]; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5., [UniProtKB, PubMed, PubMed]; Suppression of hTAS2R16 Signaling by Umami Substances. Publication Status: Online-Only, [RefSeq, PubMed]; TAS2R16 Activation Suppresses LPS-Induced Cytokine Expression in Human Gingival Fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily. These family members are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]., [RefSeq]; We did not find any statistically significant association between risk of developing sporadic colorectal cancer and selected single nucleotide polymorphisms. However, after stratification by histology (colon vs. rectum) we found that rs1525489 was associated with increased risk of rectal cancer with a (Ptrend of = 0.0071). Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D0X2;Q502V3;Q549U8;Q645W1", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0009897 external side of plasma membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9NYV7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYW0-1", "uniprot_id": "T2R10_HUMAN", "mass": 35365.0, "length": 307, "protein_name": "Taste receptor type 2 member 10", "gene_name": "TAS2R10", "organism": "Human", "refseq_name": "taste receptor type 2 member 10", "refseq_ac": "NP_076410", "gene_names_uniprotkb": "TAS2R10", "gene_names_refseq": "T2R10; TAS2R10; TRB2", "protein_names_uniprotkb": "Taste receptor type 2 member 10; T2R10; TRB2; Taste receptor family B member 2", "protein_names_refseq": "taste receptor type 2 member 10; taste receptor, family B, member 2; taste receptor, type 2, member 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:50839); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 78, "publication_id_list": "10761934;10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12581520;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15576628;15738140;15759003;15951850;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23283334;23632330;23674604;24157691;24214976;24235081;24360415;24633359;2534964;25853419;26377607;27071541;2748346;28256214;2834384;28467517;29466837;29614098;29659026;29744740;29769354;30013099;30563861;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Gustducin-coupled strychnine receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5., [UniProtKB, PubMed]; Targets cancer stem cells by suppressing cancer stemness characteristics and neuroblastoma cell invasion Publication Status: Online-Only, [RefSeq, PubMed]; The human bitter taste receptor TAS2R10 is tailored to accommodate numerous diverse ligands, [RefSeq, PubMed]; This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [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": 14, "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": "Q3MIM9;Q6NTD9", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008527 taste receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9NYW0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYW2-1", "uniprot_id": "TA2R8_HUMAN", "mass": 35877.0, "length": 309, "protein_name": "Taste receptor type 2 member 8", "gene_name": "TAS2R8", "organism": "Human", "refseq_name": "taste receptor type 2 member 8", "refseq_ac": "NP_076407", "gene_names_uniprotkb": "TAS2R8", "gene_names_refseq": "T2R8; TAS2R8; TRB5", "protein_names_uniprotkb": "Taste receptor type 2 member 8; T2R8; TRB5; Taste receptor family B member 5", "protein_names_refseq": "taste receptor type 2 member 8; taste receptor, family B, member 5; taste receptor, type 2, member 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:50836); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 82, "publication_id_list": "10.1101/2023.09.13.557529;10761934;10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12581520;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15576628;15738140;15951850;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21670512;21795555;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;2534964;25853419;26377607;27071541;2748346;28218747;28256214;2834384;28467517;28904123;29466837;29557506;29614098;29659026;29744740;30013099;30563861;31092671;33071257;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Human bitter taste receptors hTAS2R8 and hTAS2R39 display differential functions to recognize bitter peptides., [RefSeq, PubMed]; Intracellular zinc-dependent TAS2R8 gene expression through CTCF activation., [RefSeq, PubMed]; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5., [UniProtKB]; Targets cancer stem cells by suppressing cancer stemness characteristics and neuroblastoma cell invasion Publication Status: Online-Only, [RefSeq, PubMed]; This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [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": 14, "reported_interactions": 0, "missing_score": 9803, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4KN29;Q645Y2", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008527 taste receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q9NYW2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYW4-1", "uniprot_id": "TA2R5_HUMAN", "mass": 34505.0, "length": 299, "protein_name": "Taste receptor type 2 member 5", "gene_name": "TAS2R5", "organism": "Human", "refseq_name": "taste receptor type 2 member 5", "refseq_ac": "NP_061853", "gene_names_uniprotkb": "TAS2R5", "gene_names_refseq": "T2R5; TAS2R5", "protein_names_uniprotkb": "Taste receptor type 2 member 5; T2R5", "protein_names_refseq": "taste receptor type 2 member 5; taste receptor, type 2, member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:54429); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 77, "publication_id_list": "10761934;10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12581520;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15576628;15738140;15951850;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23481700;23632330;23674604;24157691;24214976;24235081;24360415;24633359;2534964;25853419;26377607;27071541;2748346;28256214;2834384;29466837;29614098;29659026;29744740;30013099;30563861;32227702;32387766;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Polymorphism of TAS2R3, TAS2R5, TAS2R19, and TAS2R50 genes and bitter food intake frequency inelderly woman., [RefSeq, PubMed]; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5., [UniProtKB]; This gene encodes a bitter taste receptor; bitter taste receptors are members of the G protein-coupled receptor superfamily and are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless taste receptor genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes on chromosome 7 and is genetically linked to loci that influence bitter perception. [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": 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": "Q645W0;Q75MV7", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008527 taste receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007635 chemosensory behavior;GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9NYW4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZI6-1", "uniprot_id": "TF2L1_HUMAN", "mass": 54627.0, "length": 479, "protein_name": "Transcription factor CP2-like protein 1", "gene_name": "TFCP2L1", "organism": "Human", "refseq_name": "transcription factor CP2-like protein 1", "refseq_ac": "NP_055368", "gene_names_uniprotkb": "TFCP2L1; CRTR1; LBP9", "gene_names_refseq": "CRTR1; LBP-9; LBP9; TFCP2L1", "protein_names_uniprotkb": "Transcription factor CP2-like protein 1; CP2-related transcriptional repressor 1; CRTR-1; Transcription factor LBP-9", "protein_names_refseq": "CP2-related transcriptional repressor 1; CRTR-1; transcription factor CP2-like protein 1; transcription factor LBP-9", "tax_id": 9606, "disease": "", "pathway": " (hsa:29842)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10644752;15471945;18004979;25215486;26906118;27397612;28904123;29242379;29557506;29632711;29786170;30315122;31530632;31709755;31848261;32157095;32502341;33691108;34185709;34399163;34555410;34581937;35580925;36241641;37236926", "class_list": "", "function": "Divergent roles for KLF4 and TFCP2L1 in naive ground state pluripotency and human primordial germ cell development., [RefSeq, PubMed]; LBP-1b and LBP-9 both stimulate LBP-32/MGR promoter activity., [RefSeq, PubMed]; LBP-1b is an important SF1-independent transcriptional activator stimulating P450scc expression in human placental JEG-3 cells, whereas LBP-9 modulates the action of LBP-1b, exerting both positive and negative effects, [RefSeq, PubMed]; SMARCB1 regulates a TFCP2L1-MYC transcriptional switch promoting renal medullary carcinoma transformation and ferroptosis resistance. Publication Status: Online-Only, [RefSeq, PubMed]; The Transcription Factor TFCP2L1 is Associated with Myelination via miR708-5p Regulation in the Peripheral Nerve System., [RefSeq, PubMed]; The transcription factor Tfcp2l1 promotes primordial germ cell-like cell specification of pluripotent stem cells., [RefSeq, PubMed]; Transcription factor that facilitates establishment and maintenance of pluripotency in embryonic stem cells (ESCs) (PubMed:25215486, PubMed:26906118). With KLF2, acts as the major effector of self-renewal that mediates induction of pluripotency downstream of LIF/STAT3 and Wnt/beta-catenin signaling (By similarity). Required for normal duct development in the salivary gland and kidney (By similarity). Coordinates the development of the kidney collecting ducts intercalated (IC) and principal (PC) cells, which regulate acid-base and salt-water homeostasis, respectively (By similarity). Regulates the expression of IC genes including subunits B1 and D2 of the V-ATPase complex, OXGR1, CA12, SLC4A1, AQP6 and IC-specific transcription factor FOXI1 (By similarity). Also regulates the expression of JAG1 and subsequent notch signaling in the collecting duct (By similarity). JAG1 initiates notch signaling in PCs but inhibits notch signaling in ICs (By similarity). Acts as a transcriptional suppressor that may suppress UBP1-mediated transcriptional activation (By similarity). Modulates the placental expression of CYP11A1 (PubMed:10644752)., [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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q4ZG43", "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_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016020 membrane;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": 2.6, "record_id": "Q9NZI6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P1P5-1", "uniprot_id": "TAAR2_HUMAN", "mass": 40134.0, "length": 351, "protein_name": "Trace amine-associated receptor 2", "gene_name": "TAAR2", "organism": "Human", "refseq_name": "trace amine-associated receptor 2 isoform 1", "refseq_ac": "NP_001028252", "gene_names_uniprotkb": "TAAR2; GPR58", "gene_names_refseq": "GPR58; TAAR2; taR-2", "protein_names_uniprotkb": "Trace amine-associated receptor 2; G protein-coupled receptor 58; TaR-2; Trace amine receptor 2", "protein_names_refseq": "G protein-coupled receptor 58; trace amine-associated receptor 2 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9287); (R-HSA-375280); (R-HSA-418555)", "pathway_count": 3, "publication_count": 59, "publication_id_list": "10684976;11007482;11459929;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15718104;15765929;15769620;15951850;16313925;16687412;16878137;16923326;17168849;17218486;18044684;18577758;18828673;19105585;19876791;19929708;20381629;21036126;2163110;23315425;2417744;24687066;2491850;2553411;2553705;26417854;2871555;29443750;29557506;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;6085243;8340388;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "Biogenic amines potently regulate blood cell functions via TAAR1 and TAAR2 and open the perspective of their specific pharmacological modulation., [RefSeq, PubMed]; Orphan olfactory receptor specific for trace amines. 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. Ligand-binding causes a conformation change that triggers signaling via the G(s)-class of G proteins which activate adenylate cyclase., [UniProtKB, UniProtKB]; 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]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5QD02;Q6NWS1;Q6NWS2;Q6NWS3", "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": 6.0, "record_id": "Q9P1P5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHQ7-1", "uniprot_id": "TCAL9_HUMAN", "mass": 12749.0, "length": 104, "protein_name": "Transcription elongation factor A protein-like 9", "gene_name": "TCEAL9", "organism": "Human", "refseq_name": "transcription elongation factor A protein-like 9", "refseq_ac": "NP_001006613", "gene_names_uniprotkb": "TCEAL9; WBP5", "gene_names_refseq": "TCEAL9; WBP5; WEX6", "protein_names_uniprotkb": "Transcription elongation factor A protein-like 9; TCEA-like protein 9; Transcription elongation factor S-II protein-like 9; WBP-5; WW domain-binding protein 5", "protein_names_refseq": "TCEA-like protein 9; WBP-5; WW domain binding protein 1; WW domain-binding protein 5; pp21 homolog; transcription elongation factor A protein-like 9; transcription elongation factor S-II protein-like 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:51186)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10931946;24714562;25576301;25645385;26154972;26728094;27336605;28832583;29493099;29508533;29557506;29786170;30429286;30833945;31154438;31844290;31848261;32103106;32157095;32488085;33592498;33936100;33968037;34561969;35580925;36284347", "class_list": "", "function": "High WBP5 expression correlates with elevation of HOX genes levels and is associated with inferior survival in patients with acute myeloid leukaemia. Erratum:[Sci Rep. 2020 Jul 30;10(1):13109. doi: 10.1038/s41598-020-70049-3. PMID: 32733008] Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein. This gene also encodes a domain with similarity to the transcription elongation factor A, SII-related family. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]., [RefSeq]; WW domain binding protein 5 can modulate MDR through the Hippo pathway under the regulation of miR-335. WW domain binding protein 5 may be a prognostic predictor and a potential target for interfering with MDR in SCLC., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2R5H6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9UHQ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5W0Q7-1", "uniprot_id": "USPL1_HUMAN", "mass": 120440.0, "length": 1092, "protein_name": "SUMO-specific isopeptidase USPL1", "gene_name": "USPL1", "organism": "Human", "refseq_name": "SUMO-specific isopeptidase USPL1 isoform 2", "refseq_ac": "NP_001308461", "gene_names_uniprotkb": "USPL1; C13orf22; D13S106", "gene_names_refseq": "C13orf22; D13S106E; USPL1; bA121O19.1", "protein_names_uniprotkb": "SUMO-specific isopeptidase USPL1; 3.4.22.-; USP-like 1; Ubiquitin-specific peptidase-like protein 1", "protein_names_refseq": "SUMO-specific isopeptidase USPL1 isoform 2; SUMO-specific isopeptidase USPL1; USP-like 1; highly charged protein; ubiquitin-specific peptidase-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10208)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "22878415;23186163;23338788;24413172;24714562;25892735;26728094;26992070;27600516;27846572;28228285;28832583;28834231;28904123;29242379;29557506;29632711;29769354;30379171;30429286;30524438;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32897882;32938616;32983136;33141586;33592498;33968037;34087483;34171305;35051231;35580925;36215666;36241641;38253038", "class_list": "", "function": "Genetic variability in USPL1 may have a role in breast cancer, especially in rs7984952, [RefSeq, PubMed]; SUMO-specific isopeptidase involved in protein desumoylation. Specifically binds SUMO proteins with a higher affinity for SUMO2 and SUMO3 which it cleaves more efficiently. Also able to process full-length SUMO proteins to their mature forms (PubMed:22878415). Plays a key role in RNA polymerase-II-mediated snRNA transcription in the Cajal bodies (PubMed:24413172). Is a component of complexes that can bind to U snRNA genes (PubMed:24413172)., [UniProtKB, PubMed, PubMed]; USPL1 plays a key role in RNAPII-mediated snRNA transcription., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "reported_glycation": 0, "reported_snv": 35, "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": "Q14109;Q6AI45;Q8IY30;Q8IYE8", "ec_number_list": "", "go_molecular_function": "GO:0016929 deSUMOylase activity;GO:0032183 SUMO binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0015030 Cajal body", "go_biological_process": "GO:0009301 snRNA transcription;GO:0006508 proteolysis;GO:0008283 cell population proliferation;GO:0030576 Cajal body organization;GO:0016926 protein desumoylation", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q5W0Q7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96DA0-1", "uniprot_id": "PAUF_HUMAN", "mass": 18879.0, "length": 172, "protein_name": "Pancreatic adenocarcinoma up-regulated factor", "gene_name": "ZG16B", "organism": "Human", "refseq_name": "pancreatic adenocarcinoma up-regulated factor precursor", "refseq_ac": "NP_660295", "gene_names_uniprotkb": "ZG16B; PAUF; PRO1567", "gene_names_refseq": "EECP; HRPE773; JCLN2; PAUF; PRO1567; ZG16B", "protein_names_uniprotkb": "Pancreatic adenocarcinoma up-regulated factor; Zymogen granule protein 16 homolog B", "protein_names_refseq": "endocrine and exocrine protein; jacalin-like lectin domain containing 2; pancreatic adenocarcinoma up-regulated factor precursor; pancreatic adenocarcinoma up-regulated factor; pancreatic adenocarcinoma upregulated factor; zymogen granule protein 16 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:124220)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;11678034;12975309;14702039;15489334;15616553;16341674;16502470;16954406;19302292;21110947;26375851;27322081;27706833;28988106;31095674;32296183;33207190;33731895;36232715;37216558", "class_list": "", "function": "Bioinformatic analysis identified a putative human CSP-1/Dcpp ortholog, HRPE773, expressed predominantly in human salivary tissue, that shows 31% amino acid identity and 45% amino acid similarity to the mouse Dcpp query sequence., [RefSeq, PubMed]; Functions as a lectin that binds to selective commensal dental plaque bacteria, such as Streptococcus vestibularis. Contributes to maintain homeostasis in the oral microbiome by capturing commensal microbes and regulating their growth using a mucin-assisted clearance mechanism (PubMed:37216558). Plays an important role in pancreatic tumor progression and metastasis (PubMed:19302292, PubMed:36232715). Promotes pancreatic cancer cells migration and invasion through the TLR4/MyD88/NF-kappaB signaling pathway, without the involvement of the TLR4/TRIF pathway (PubMed:36232715)., [UniProtKB, PubMed, PubMed, PubMed]; Human oral lectin ZG16B acts as a cell wall polysaccharide probe to decode host-microbe interactions with oral commensals., [RefSeq, PubMed]; PAUF Induces Migration of Human Pancreatic Cancer Cells Exclusively via the TLR4/MyD88/NF-kappaB Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Pancreatic cancer induces muscle wasting by promoting the release of pancreatic adenocarcinoma upregulated factor., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NIY1;B2R4F6;C3PTT6;Q6UW28", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0043394 proteoglycan binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0016477 cell migration;GO:0045766 positive regulation of angiogenesis;GO:0042742 defense response to bacterium;GO:0043117 positive regulation of vascular permeability", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q96DA0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P62341-1", "uniprot_id": "SELT_HUMAN", "mass": 22324.0, "length": 195, "protein_name": "Thioredoxin reductase-like selenoprotein T", "gene_name": "SELENOT", "organism": "Human", "refseq_name": "thioredoxin reductase-like selenoprotein T precursor", "refseq_ac": "NP_057359", "gene_names_uniprotkb": "SELENOT; PRO176; SELT", "gene_names_refseq": "SELENOT; SELT", "protein_names_uniprotkb": "Thioredoxin reductase-like selenoprotein T; 1.8.1.9; SelT", "protein_names_refseq": "thioredoxin reductase-like enzyme; thioredoxin reductase-like selenoprotein T precursor; thioredoxin reductase-like selenoprotein T", "tax_id": 9606, "disease": "", "pathway": " (hsa:51714)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10567350;11237011;12775843;12975309;20707881;23913443;24714562;25418920;25576301;26154972;26866473;26992070;27452731;27600516;27645994;27846572;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29632711;30315122;31154438;31530632;31611695;31844290;31848261;31998317;32161166;32265295;32387766;32488085;32983136;33592498;33691108;33717175;33912179;34561969;35580925;36010968;36284347;37938771;38643121", "class_list": "", "function": "Data suggest SELT is expressed in pancreatic beta- and delta-cells; inactivation of SELT in beta-cells leads to glucose intolerance via impaired glucose homeostasis and PACAP (pituitary adenylate cyclase-activating polypeptide) insulinotropic effect., [RefSeq, PubMed]; Selenoprotein with thioredoxin reductase-like oxidoreductase activity (By similarity). Protects dopaminergic neurons against oxidative stress and cell death (PubMed:26866473). Involved in ADCYAP1/PACAP-induced calcium mobilization and neuroendocrine secretion (By similarity). Plays a role in fibroblast anchorage and redox regulation (By similarity). In gastric smooth muscle, modulates the contraction processes through the regulation of calcium release and MYLK activation (By similarity). In pancreatic islets, involved in the control of glucose homeostasis, contributes to prolonged ADCYAP1/PACAP-induced insulin secretion (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Selenoprotein with thioredoxin reductase-like oxidoreductase activity. Protects dopaminergic neurons against oxidative stress and cell death. Involved in ADCYAP1/PACAP-induced calcium mobilization and neuroendocrine secretion. Plays a role in fibroblast anchorage and redox regulation. In gastric smooth muscle, modulates the contraction processes through the regulation of calcium release and MYLK activation. In pancreatic islets, involved in the control of glucose homeostasis, contributes to prolonged ADCYAP1/PACAP-induced insulin secretion., [UniProtKB, UniProtKB]; The paper reported that the full-length SELT protein contains 182 amino acids., [RefSeq, PubMed]; The redox-active defensive Selenoprotein T as a novel stress sensor protein playing a key role in the pathophysiology of heart failure. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a selenoprotein, containing a selenocysteine (Sec) residue at the active site. Sec 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 localized in the endoplasmic reticulum. It belongs to the SelWTH family that possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif found in several redox active proteins. Studies in mice indicate a crucial role for this gene in the protection of dopaminergic neurons against oxidative stress in Parkinson's disease, and in the control of glucose homeostasis in pancreatic beta-cells. Pseudogenes of this locus have been identified on chromosomes 9 and 5. [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": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O95904;Q8IY80;Q9CZ45;Q9NZJ3", "ec_number_list": "1.8.1.9;1.11.1.2", "go_molecular_function": "GO:0004791 thioredoxin-disulfide reductase (NADPH) activity;GO:0008430 selenium binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0001514 selenocysteine incorporation;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0042593 glucose homeostasis;GO:0031016 pancreas development;GO:0009749 response to glucose", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "P62341-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BY50-1", "uniprot_id": "SC11C_HUMAN", "mass": 21542.0, "length": 192, "protein_name": "Signal peptidase complex catalytic subunit SEC11C", "gene_name": "SEC11C", "organism": "Human", "refseq_name": "signal peptidase complex catalytic subunit SEC11C isoform 1", "refseq_ac": "NP_150596", "gene_names_uniprotkb": "SEC11C; SEC11L3; SPC21; SPCS4C", "gene_names_refseq": "SEC11C; SEC11L3; SPC21; SPCS4C", "protein_names_uniprotkb": "Signal peptidase complex catalytic subunit SEC11C; 3.4.21.89; Microsomal signal peptidase 21 kDa subunit; SEC11 homolog C; SEC11-like protein 3; SPC21; SPase 21 kDa subunit", "protein_names_refseq": "SEC11-like 3; SEC11-like protein 3; SPase 21 kDa subunit; microsomal signal peptidase 21 kDa subunit; signal peptidase complex 21; signal peptidase complex catalytic subunit SEC11C isoform 1; signal peptidase complex catalytic subunit SEC11C", "tax_id": 9606, "disease": "", "pathway": " (hsa:90701); (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": 149, "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;17261850;17289852;17595255;17681422;18166647;18202141;18396350;18443287;18455985;18491227;18519800;18593849;19001044;19280057;19327128;19628676;20068231;20444697;21872626;21993680;22375065;22424782;22869377;23481700;24366607;24681004;24714562;24715725;24966173;25418920;25469497;25505266;25576301;25645385;25892735;26154972;26208004;26375851;26416966;26728094;26811146;26929215;26992070;27255086;27383988;27397612;27846572;27862975;27920218;28063628;28228285;28228593;28446606;28512129;28514659;28832583;2890159;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30779550;30828317;30833945;31092671;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32502341;32897882;32938616;32983136;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34357683;34388369;34561969;34932366;35051231;35215835;35494241;35580925;36010968;36241641;36275477;36284347;37938771;3841689;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]; Signal peptidase 21 suppresses cell proliferation, migration, and invasion via the PTEN-PI3K/Akt signaling pathway in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Structure of the human signal peptidase complex reveals the determinants for signal peptide cleavage., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RAA3", "ec_number_list": "4.2.99.18;3.4.21.89", "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:0006465 signal peptide processing", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "Q9BY50-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P42765-1", "uniprot_id": "THIM_HUMAN", "mass": 41924.0, "length": 397, "protein_name": "3-ketoacyl-CoA thiolase, mitochondrial", "gene_name": "ACAA2", "organism": "Human", "refseq_name": "3-ketoacyl-CoA thiolase, mitochondrial", "refseq_ac": "NP_006102", "gene_names_uniprotkb": "ACAA2", "gene_names_refseq": "ACAA2; DSAEC; T1", "protein_names_uniprotkb": "3-ketoacyl-CoA thiolase, mitochondrial; 2.3.1.16; 2.3.1.9; 3.1.2.-; 3.1.2.1; 3.1.2.2; Acetyl-CoA acetyltransferase; Acetyl-CoA acyltransferase; Acyl-CoA hydrolase, mitochondrial; Beta-ketothiolase; Mitochondrial 3-oxoacyl-CoA thiolase; T1", "protein_names_refseq": "3-ketoacyl-CoA thiolase, mitochondrial; acetyl-CoA acetyltransferase; acetyl-Coenzyme A acyltransferase 2; acyl-CoA hydrolase, mitochondrial; beta ketothiolase; mitochondrial 3-oxoacyl-CoA thiolase; mitochondrial 3-oxoacyl-Coenzyme A thiolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:10449); (R-HSA-77289)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "11237011;11696000;12882974;15242332;15638818;16423998;16934754;16940157;17762044;17953517;18268358;18371312;18669648;19170545;20338778;20470824;21237683;22465940;22586271;22871024;23700546;23901139;24080521;24275569;24715725;24732803;25002576;25478839;25576301;26290611;26758079;26768311;26992070;27452731;28218747;28228285;28510447;28514659;28832583;28834231;28855257;28904123;29242379;29437277;29557506;30524438;31154438;31217245;31844290;32157095;32161166;32350084;32357974;32897882;32938616;32983136;33298915;33912179;33936100;33968037;34229054;34357683;34932366;35051231;35318648;35580925;36162992;36241641;36284347;37074911;37310146;37798372;38253038;38656551;38665916;40596516;40914422;4721607;8241273", "class_list": "", "function": "ACAA2 is a functional BNIP3 binding partner and provide a possible linkage between fatty acid metabolism and apoptosis of cells., [RefSeq, PubMed]; ACAA2 is a novel molecular indicator for cancers with neuroendocrine phenotype., [RefSeq, PubMed]; In the production of energy from fats, this is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (Probable). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain unbranched 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (Probable). Also catalyzes the condensation of two acetyl-CoA molecules into acetoacetyl-CoA and could be involved in the production of ketone bodies (Probable). Also displays hydrolase activity on various fatty acyl-CoAs (PubMed:25478839). Thereby, could be responsible for the production of acetate in a side reaction to beta-oxidation (Probable). Abolishes BNIP3-mediated apoptosis and mitochondrial damage (PubMed:18371312)., [UniProtKB, PubMed, PubMed]; LncRNA RPL34-AS1 suppresses the proliferation, migration and invasion of esophageal squamous cell carcinoma via targeting miR-575/ACAA2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Negative correlation between acetyl-CoA acyltransferase 2 and cetuximab resistance in colorectal cancer., [RefSeq, PubMed]; The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]., [RefSeq]; The oncogenic role and regulatory mechanism of ACAA2 in human ovarian cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 3, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9BUT6", "ec_number_list": "3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;3.1.1.4;3.1.1.5;2.3.1.16;2.3.1.9;2.3.1.155;2.3.1.176;3.1.2.-;3.1.2.22;2.3.1.65;3.5.2.6;3.1.2.14", "go_molecular_function": "GO:0003723 RNA binding;GO:0003986 acetyl-CoA hydrolase activity;GO:0047617 fatty acyl-CoA hydrolase activity;GO:0003988 acetyl-CoA C-acyltransferase activity;GO:0003985 acetyl-CoA C-acetyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0071456 cellular response to hypoxia;GO:0006695 cholesterol biosynthetic process;GO:1901029 negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;GO:1902109 negative regulation of mitochondrial membrane permeability involved in apoptotic process", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P42765-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P59540-1", "uniprot_id": "T2R46_HUMAN", "mass": 35523.0, "length": 309, "protein_name": "Taste receptor type 2 member 46", "gene_name": "TAS2R46", "organism": "Human", "refseq_name": "taste receptor type 2 member 46 isoform 1", "refseq_ac": "NP_795368", "gene_names_uniprotkb": "TAS2R46", "gene_names_refseq": "T2R46; T2R54; TAS2R46", "protein_names_uniprotkb": "Taste receptor type 2 member 46; T2R46; T2R54; Taste receptor type 2 member 54", "protein_names_refseq": "taste receptor type 2 member 46 isoform 1; taste receptor type 2 member 54; taste receptor, type 2, member 46", "tax_id": 9606, "disease": "", "pathway": " (hsa:259292); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 81, "publication_id_list": "10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12379855;12581520;12584440;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15576628;15738140;15951850;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19628819;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;2534964;25853419;26377607;27071541;2748346;28256214;2834384;29466837;29614098;29659026;29744740;30013099;30203366;30563861;31248983;36108005;39000432;39056786;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Absinthin, an agonist of the bitter taste receptor hTAS2R46, uncovers an ER-to-mitochondria Ca(2+)-shuttling event., [RefSeq, PubMed]; Bitter Taste Receptor 46 (hTAS2R46) Protects Monocytes/Macrophages from Oxidative Stress. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency (By similarity)., [UniProtKB]; Single-Nucleotide Polymorphisms of TAS2R46 Affect the Receptor Downstream Calcium Regulation in Histamine-Challenged Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis for strychnine activation of human bitter taste receptor TAS2R46. Erratum:[Science. 2025 Apr 25;388(6745):eadx9419. doi: 10.1126/science.adx9419. PMID: 40273273], [RefSeq, PubMed]; TAS2R46 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Sep 2009]., [RefSeq]; TAS2R46G>A rs2708381 is not associated with recurrent pregnancy loss in Korean women., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "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": "P59548;Q645X6", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0060170 ciliary membrane", "go_biological_process": "GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P59540-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P63272-1", "uniprot_id": "SPT4H_HUMAN", "mass": 13193.0, "length": 117, "protein_name": "Transcription elongation factor SPT4", "gene_name": "SUPT4H1", "organism": "Human", "refseq_name": "transcription elongation factor SPT4", "refseq_ac": "NP_003159", "gene_names_uniprotkb": "SUPT4H1; SPT4H; SUPT4H", "gene_names_refseq": "SPT4H; SPT4; SUPT4H1; SUPT4H; Supt4a", "protein_names_uniprotkb": "Transcription elongation factor SPT4; DRB sensitivity-inducing factor 14 kDa subunit; DRB sensitivity-inducing factor small subunit; DSIF p14; DSIF small subunit; hSPT4", "protein_names_refseq": "DRB sensitivity-inducing factor 14 kDa subunit; DSIF p14; small hSpt4 subunit; suppressor of Ty 4 homolog 1; transcription elongation factor SPT4", "tax_id": 9606, "disease": "", "pathway": " (hsa:6827); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167200); (R-HSA-167238); (R-HSA-167242); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-674695); (R-HSA-6796648); (R-HSA-6807505); (R-HSA-75955)", "pathway_count": 16, "publication_count": 164, "publication_id_list": "10022900;10075709;10199401;10454543;10757782;10866664;10912001;10916156;10984493;11112772;11237011;11313498;11313499;11350971;11553615;11856838;11859374;11875071;11884399;11971958;11988847;12370301;12414730;12574128;12653964;12676794;12718890;12750860;14701750;14701755;15060154;15104674;15136722;1535687;15380072;15489290;15781865;16214896;16239144;16308568;16901896;17234882;1739980;18079403;1829677;1939271;19667075;19860741;19952111;20159561;20457598;2125285;22012619;22137580;22231121;22252320;22441827;22988298;23166507;23538671;23932780;24097444;24270878;24354960;24397554;2449431;24554720;24662513;24715725;24997600;25429106;25561469;25576301;25645385;25675981;25712099;26154972;26659056;26811146;26929215;26992070;27397612;27543614;27600516;27846572;27862975;27920218;28063628;28218747;2825027;28514659;28832583;28834231;28855257;28892040;28904123;29242379;29393594;2944599;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30605685;30779550;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32357974;32387766;32488085;32502341;32983136;33123756;33141586;33298915;33333262;33592498;33717175;33912179;33936100;33968037;34019948;34171305;34211107;34561969;34932366;35051231;35561310;35580925;36284347;37478862;37938771;7660122;7660129;7660130;7715707;7853496;8253082;8339931;8370526;8628262;8649394;8668525;8786137;9009278;9063748;9153304;9188510;9407024;9450929;9489704;9705341;9765293;9832505;9857195", "class_list": "", "function": "Authors depleted SUPT4H1 by RNA interference to inhibit the function of the SUPT4H1/SUPT5H transcription elongation complex. Depletion of SUPT4H1 leads to a global reduction in all cellular RNA., [RefSeq, PubMed]; CRISPRi-mediated depletion of Spt4 and Spt5 reveals a role for DSIF in the control of HIV latency., [RefSeq, PubMed]; Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II (PubMed:10075709, PubMed:10199401, PubMed:10454543, PubMed:10912001, PubMed:11112772, PubMed:11553615, PubMed:12653964, PubMed:12718890, PubMed:15136722, PubMed:15380072, PubMed:9450929, PubMed:9857195). DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A (PubMed:15136722). DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter (PubMed:10199401, PubMed:10912001, PubMed:11112772). Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex (PubMed:10199401, PubMed:10912001, PubMed:11112772). DSIF and NELF promote pausing by inhibition of the transcription elongation factor TFIIS/S-II (PubMed:10199401, PubMed:10912001, PubMed:11112772). TFIIS/S-II binds to RNA polymerase II at transcription pause sites and stimulates the weak intrinsic nuclease activity of the enzyme (PubMed:16214896). Cleavage of blocked transcripts by RNA polymerase II promotes the resumption of transcription from the new 3' terminus and may allow repeated attempts at transcription through natural pause sites (PubMed:16214896). DSIF can also positively regulate transcriptional elongation and is required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat (PubMed:11112772). DSIF acts to suppress transcriptional pausing in transcripts derived from the HIV-1 LTR and blocks premature release of HIV-1 transcripts at terminator sequences (PubMed:11112772)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates transcription elongation by RNA polymerase II., [UniProtKB, UniProtKB]; This gene encodes the small subunit of DRB (5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole) sensitivity-inducing factor (DSIF) complex, which regulates mRNA processing and transcription elongation by RNA polymerase II. The encoded protein is localized to the nucleus and interacts with the large subunit (SUPT5H) to form the DSIF complex. Related pseudogenes have been identified on chromosomes 2 and 12. Alternatively spliced transcript variants have been found for this gene. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2R4X8;D3DTZ4;Q16550;Q62387;Q6ZP89", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046982 protein heterodimerization activity;GO:0000993 RNA polymerase II complex binding", "go_cellular_component": "GO:0032044 DSIF complex;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0032785 negative regulation of DNA-templated transcription, elongation;GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "P63272-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H7N4-1", "uniprot_id": "SFR19_HUMAN", "mass": 139270.0, "length": 1312, "protein_name": "Splicing factor, arginine/serine-rich 19", "gene_name": "SCAF1", "organism": "Human", "refseq_name": "splicing factor, arginine/serine-rich 19", "refseq_ac": "NP_067051", "gene_names_uniprotkb": "SCAF1; SFRS19; SRA1", "gene_names_refseq": "SCAF1; SRA1", "protein_names_uniprotkb": "Splicing factor, arginine/serine-rich 19; SCAF; SR-A1; SR-related C-terminal domain-associated factor 1; SR-related and CTD-associated factor 1; SR-related-CTD-associated factor; Serine arginine-rich pre-mRNA splicing factor SR-A1", "protein_names_refseq": "SCAF; SR-related C-terminal domain-associated factor 1; SR-related and CTD-associated factor 1; SR-related-CTD-associated factor; serine arginine-rich pre-mRNA splicing factor SR-A1; splicing factor, arginine/serine-rich 19", "tax_id": 9606, "disease": "end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:58506)", "pathway_count": 1, "publication_count": 85, "publication_id_list": "11237011;11461075;15302935;15493872;15992770;16565220;16631123;16964243;17081983;17132108;17287340;18212344;18452278;18669648;18691976;18767875;19413330;19415658;19651622;19664995;19690332;19691289;19913121;20068231;20112406;20166139;21406692;23186163;23301498;23481700;24275569;24715725;25576301;25645385;26154972;26992070;27846572;27862975;28063628;28832583;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29787824;30192525;30315122;30410026;30484775;31154438;31373491;31844290;32157095;32265295;32357974;32387766;32502341;32919080;32938616;33123756;33141586;33298915;33592498;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34561969;35051231;35318648;35580925;36010968;37938771;38575788;38902237;39534244", "class_list": "", "function": "Analysis of the acrolein-modified sites of apolipoprotein B-100 in LDL., [RefSeq, PubMed]; In vivo CRISPR screens reveal SCAF1 and USP15 as drivers of pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; May function in pre-mRNA splicing., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our results suggest that SRA1 is associated with cancer progression and may possibly be characterized as a new marker of unfavorable prognosis for ovarian cancer., [RefSeq, PubMed]; SCAF1 drives the compositional diversity of mammalian respirasomes. Erratum:[Nat Struct Mol Biol. 2025 Nov;32(11):2371. doi: 10.1038/s41594-025-01721-3. PMID: 41193677], [RefSeq, PubMed]; Study describes the discovery and cloning of fifteen novel splice variants of SCAF1 gene in cancer cells comprising a total of nine novel alternative splicing events between the annotated exons of the gene, producing seven novel SCAF1 transcripts with open-reading frames, and eight novel SCAF1 transcripts with premature termination codons that are likely long non-coding RNAs. Additionally, a novel 3' UTR was discovered., [RefSeq, PubMed]; This is the first study that examines the expression of the novel gene SR-A1 in colon cancer progression., [RefSeq, PubMed]", "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": 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": 50, "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": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z5V7;Q8WVA1;Q9NR59", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0019904 protein domain specific binding;GO:0099122 RNA polymerase II C-terminal domain binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9H7N4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15545-1", "uniprot_id": "TAF7_HUMAN", "mass": 40259.0, "length": 349, "protein_name": "Transcription initiation factor TFIID subunit 7", "gene_name": "TAF7", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 7", "refseq_ac": "NP_005633", "gene_names_uniprotkb": "TAF7; TAF2F; TAFII55", "gene_names_refseq": "TAF2F; TAF7; TAFII55", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 7; RNA polymerase II TBP-associated factor subunit F; TAF(II)55; TAFII-55; TAFII55; Transcription initiation factor TFIID 55 kDa subunit", "protein_names_refseq": "RNA polymerase II TBP-associated factor subunit F; TAF(II)55; TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa; TAFII-55; TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD; TBP-associated factor F; transcription factor IID subunit TAFII55; transcription initiation factor TFIID subunit 7; transcription initiation factor TFIID, 55 kDa subunit", "tax_id": 9606, "disease": "oligospermia (Disease Ontology:DOID:14228)", "pathway": " (hsa:6879); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-674695); (R-HSA-6804756); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-76042)", "pathway_count": 10, "publication_count": 148, "publication_id_list": "10024882;10199401;10435622;10438527;10500146;10570149;10604467;10673500;10673501;10710310;10723029;10884347;11237011;11239457;11340078;11433015;11447225;11486021;11511362;11546806;11551930;11592977;11739720;11740489;11780126;11784853;11859374;11884399;12064478;12393879;12676794;12702766;12851404;12914926;1310361;14702041;15053879;15489290;15866171;15960975;16322561;16415881;17081983;17108107;17349958;17591690;18212344;18452278;18490454;18669648;18691976;19121998;1939271;19651622;19690332;19965871;20034391;20068231;20937824;20959462;21317932;21406692;22711989;23000554;23186163;23485397;23676219;24036077;24145406;24275569;24366607;2449431;24715725;24874608;25412659;25418920;25576301;26992070;27007846;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29203640;29242379;29393594;29437277;29493099;29557506;29632711;30028080;30429286;30833945;31092671;31154438;31162714;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32488085;32502341;32897882;32938616;32983136;33592498;33691108;33717175;33795473;33936100;33968037;34762273;34932366;35051231;35561310;35580925;36010968;36284347;38253038;38904013;40596516;7151173;7601352;7660122;7660129;7660130;7824954;8156590;8330735;8370526;8465201;8490964;8702684;8946909;9256425;9353262;9405375;9450929;9489704;9925639", "class_list": "", "function": "MicroRNA-374c-5p inhibits the development of breast cancer through TATA-box binding protein associated factor 7-mediated transcriptional regulation of DEP domain containing 1., [RefSeq, PubMed]; Novel variations in spermatogenic transcription regulators RFX2 and TAF7 increase risk of azoospermia., [RefSeq, PubMed]; SETD7 Promotes Cell Proliferation and Migration via Methylation-mediated TAF7 in Clear Cell Renal Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; TAF7, presumably its TFIID-independent form, binds the promoter and enhances the levels of Pol II at the gene body but not the promoter, [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:10438527, PubMed:33795473). TAF7 forms a promoter DNA binding subcomplex of TFIID, together with TAF1 and TAF2 (PubMed:33795473). Part of a TFIID complex containing TAF10 (TFIID alpha) and a TFIID complex lacking TAF10 (TFIID beta) (PubMed:10438527)., [UniProtKB, PubMed, PubMed]; The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the largest TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targeted by RNA polymerase II. [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": 11, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RBV9;Q13036", "ec_number_list": "", "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0000976 transcription cis-regulatory region binding;GO:0046966 nuclear thyroid hormone receptor binding;GO:0035035 histone acetyltransferase binding;GO:0042809 nuclear vitamin D receptor binding", "go_cellular_component": "GO:0033276 transcription factor TFTC complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0000296 spermine transport;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", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q15545-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15005-1", "uniprot_id": "SPCS2_HUMAN", "mass": 25003.0, "length": 226, "protein_name": "Signal peptidase complex subunit 2", "gene_name": "SPCS2", "organism": "Human", "refseq_name": "signal peptidase complex subunit 2", "refseq_ac": "NP_055567", "gene_names_uniprotkb": "SPCS2; KIAA0102; SPC25", "gene_names_refseq": "SPCS2", "protein_names_uniprotkb": "Signal peptidase complex subunit 2; Microsomal signal peptidase 25 kDa subunit; SPase 25 kDa subunit", "protein_names_refseq": "SPase 25 kDa subunit; microsomal signal peptidase 25 kDa subunit; signal peptidase 25kDa subunit; signal peptidase complex subunit 2 homolog; signal peptidase complex subunit 2", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:9789); (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": 175, "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;15104674;15126524;15126574;15142980;15256494;15584901;15604212;15619630;16171404;16219666;16469117;16728727;17065399;17261850;17289852;17308301;17595255;17681422;18166647;18202141;18396350;18443287;18455985;18491227;18519800;18593849;18991276;19001044;19280057;19327128;19608861;19628676;19748539;20068231;20112406;20444697;21872626;22375065;22544926;22645359;23481700;24366607;24397554;24681004;24714562;24715725;24966173;25418920;25576301;25645385;25810538;25880248;26154972;26208004;26375851;26416966;26728094;26768311;26811146;26929215;26992070;27255086;27383988;27543614;27600516;27846572;27920218;28063628;28218747;28228285;28228593;28467828;28510447;28512129;28649982;28832583;28834231;2890159;28904123;29242379;29351928;29393594;29485866;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30524438;30779550;30828317;30833945;31154438;31222486;31530632;31611695;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34185709;34357683;34388369;34405274;34509645;34561969;34725712;34932366;35051231;35154160;35215835;35580925;36010968;36215666;36241641;36284347;37938771;3841689;38793607;3900195;39894887;40596516;7883856;7982500;8100523;8428636;8798518;9631292", "class_list": "", "function": "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. Enhances the enzymatic activity of SPC and facilitates the interactions between different components of the translocation site., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 5, "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": "Q15507;Q3KQT0;Q641R4;Q6FG65;Q6IRX0;Q6P1P4;Q96HU9", "ec_number_list": "", "go_molecular_function": "GO:0008233 peptidase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0005787 signal peptidase complex", "go_biological_process": "GO:0045047 protein targeting to ER;GO:0006465 signal peptide processing", "synthesized_glycan_count": 0, "hit_score": 17.9, "record_id": "Q15005-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYN2-1", "uniprot_id": "TCAL8_HUMAN", "mass": 13616.0, "length": 117, "protein_name": "Transcription elongation factor A protein-like 8", "gene_name": "TCEAL8", "organism": "Human", "refseq_name": "transcription elongation factor A protein-like 8", "refseq_ac": "NP_001006685", "gene_names_uniprotkb": "TCEAL8", "gene_names_refseq": "TCEAL8; WEX3", "protein_names_uniprotkb": "Transcription elongation factor A protein-like 8; TCEA-like protein 8; Transcription elongation factor S-II protein-like 8", "protein_names_refseq": "TCEA-like protein 8; transcription elongation factor A (SII)-like 8; transcription elongation factor A protein-like 8; transcription elongation factor S-II protein-like 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:90843)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10051408;11237011;27920218;28832583;29493099;29557506;29632046;31844290;32387766;32983136;33968037;35580925", "class_list": "", "function": "Characterizes TCEAL1, another member of the human TCEAL gene family., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8IYN2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUC6-1", "uniprot_id": "TCAM1_HUMAN", "mass": 76422.0, "length": 712, "protein_name": "TIR domain-containing adapter molecule 1", "gene_name": "TICAM1", "organism": "Human", "refseq_name": "TIR domain-containing adapter molecule 1 isoform 1", "refseq_ac": "NP_891549", "gene_names_uniprotkb": "TICAM1; PRVTIRB; TRIF", "gene_names_refseq": "IIAE6; MyD88-3; PRVTIRB; TICAM-1; TICAM1; TRIF", "protein_names_uniprotkb": "TIR domain-containing adapter molecule 1; MyD88-3; Proline-rich, vinculin and TIR domain-containing protein B; Putative NF-kappa-B-activating protein 502H; TICAM-1; TIR domain-containing adapter protein inducing IFN-beta; Toll-interleukin-1 receptor domain-containing adapter protein inducing interferon beta", "protein_names_refseq": "TIR domain containing adaptor inducing interferon-beta; TIR domain-containing adapter molecule 1 isoform 1; TIR domain-containing adapter molecule 1; TIR domain-containing adapter protein inducing IFN-beta; proline-rich, vinculin and TIR domain-containing protein B; putative NF-kappa-B-activating protein 502H; toll like receptor adaptor molecule 1; toll-interleukin-1 receptor domain-containing adapter protein inducing interferon beta", "tax_id": 9606, "disease": "brain disease (Disease Ontology:DOID:936); herpes simplex encephalitis, susceptibility to, 4 (MONDO:MONDO:0013921)", "pathway": " (hsa:148022); (R-HSA-140534); (R-HSA-166166); (R-HSA-168164); (R-HSA-168927); (R-HSA-1810476); (R-HSA-2562578); (R-HSA-5602566); (R-HSA-5602571); (R-HSA-9013957); (R-HSA-9013973); (R-HSA-9014325); (R-HSA-936964); (R-HSA-937041); (R-HSA-937072); (R-HSA-975163); (R-HSA-9824878); (R-HSA-9828211)", "pathway_count": 18, "publication_count": 144, "publication_id_list": "10702308;10723127;10882101;11057907;11607032;12181749;12221085;12242293;12471095;12539043;12609980;12620240;12692549;12721283;12752666;12761501;12855817;14517278;14530355;14555995;14556004;14703513;14739303;14982987;15064760;15145317;15210742;15251447;15327770;15611223;15710891;15814722;16056267;16115877;16186825;16260493;16306936;16306937;16547522;16603398;16959974;16964262;17047224;17135271;17157040;17327220;17457343;17496917;17526488;17599067;17823124;17878161;18420935;18669648;18810425;18941233;19112497;19278658;19590578;19656901;19666475;19675569;19898473;20047764;20068231;20308068;20696886;20832341;20855887;21436888;21695056;21737329;21737330;21862579;21931545;21931591;22105173;22123964;22421964;22948160;23056470;23453969;23453971;23453972;23481700;24311583;24672048;24715725;25636800;25736436;25892735;26154972;27302953;27538435;27701768;27862975;28514659;28566380;28747347;28832583;28834231;28898289;28904123;29242379;29493099;29557506;29769354;30192525;31154438;31217245;31511519;31530632;31844290;31998317;32157095;32161166;32357974;32502341;32897882;32938616;32972995;32983136;33141586;33298915;33592498;33691108;33912179;33968037;33981976;34087483;34561969;34932366;35051231;35215908;35580925;36010968;36284347;36936901;36978183;37668025;37938771;38864429;9566918;9744859", "class_list": "", "function": "Association between polymorphisms in TLR3, TICAM1 and IFNA1 genes and covid-19 severity in Southern Brazil., [RefSeq, PubMed]; Bacterial vesicles block viral replication in macrophages via TLR4-TRIF-axis. Publication Status: Online-Only, [RefSeq, PubMed]; Identified an alternative adaptor, designated Toll-interleukin 1 receptor domain (TIR)-containing adaptor molecule (TICAM)-1, that can physically bind the TIR domain of TLR3, [RefSeq, PubMed]; Involved in innate immunity against invading pathogens. Adapter used by TLR3, TLR4 (through TICAM2) and TLR5 to mediate NF-kappa-B and interferon-regulatory factor (IRF) activation, and to induce apoptosis (PubMed:12471095, PubMed:12539043, PubMed:14739303, PubMed:28747347, PubMed:35215908, PubMed:31511519). Ligand binding to these receptors results in TRIF recruitment through its TIR domain (PubMed:12471095, PubMed:12539043, PubMed:14739303). Distinct protein-interaction motifs allow recruitment of the effector proteins TBK1, TRAF6 and RIPK1, which in turn, lead to the activation of transcription factors IRF3 and IRF7, NF-kappa-B and FADD respectively (PubMed:12471095, PubMed:12539043, PubMed:14739303). Phosphorylation by TBK1 on the pLxIS motif leads to recruitment and subsequent activation of the transcription factor IRF3 to induce expression of type I interferon and exert a potent immunity against invading pathogens (PubMed:25636800). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of pro-inflammatory cytokines (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TRIF is identified and characterized as a novel adaptor protein containing the Toll/IL-1 receptor domain, with a specific role in TLR3 signaling., [RefSeq, PubMed]; This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. Mutations in this gene are associated with encephalopathy, acute, infection-induced. [provided by RefSeq, Jul 2020]., [RefSeq]; [Association of gene polymorphisms of MyD88 and TICAM1 and their interactions with community-acquired pneumonia in children]., [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": 4, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 16, "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": "B3Y691;O75532;Q86XP8;Q96GA0", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019901 protein kinase binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol;GO:0010008 endosome membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0010628 positive regulation of gene expression;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "Q8IUC6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N412-1", "uniprot_id": "STPG2_HUMAN", "mass": 50660.0, "length": 459, "protein_name": "Sperm-tail PG-rich repeat-containing protein 2", "gene_name": "STPG2", "organism": "Human", "refseq_name": "sperm-tail PG-rich repeat-containing protein 2", "refseq_ac": "NP_777612", "gene_names_uniprotkb": "STPG2; C4orf37", "gene_names_refseq": "C4orf37; STPG2", "protein_names_uniprotkb": "Sperm-tail PG-rich repeat-containing protein 2", "protein_names_refseq": "sperm-tail PG-rich repeat-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:285555)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;28228285;29741879", "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": 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": 24, "reported_interactions": 0, "missing_score": 9015, "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": 0.6, "record_id": "Q8N412-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NNA2-1", "uniprot_id": "SRRM3_HUMAN", "mass": 65249.0, "length": 597, "protein_name": "Serine/arginine repetitive matrix protein 3", "gene_name": "SRRM3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SRRM3", "gene_names_refseq": "", "protein_names_uniprotkb": "Serine/arginine repetitive matrix protein 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:222183)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;35051231;35858306;36759540", "class_list": "", "function": "RNA splicing factor that regulates inclusion of microexons in mRNA transcripts (PubMed:35858306, PubMed:36759540). Required for motor coordination. In cortical neurons, acts redundantly with SRRM4 and regulates many alternative splicing events, including inclusion of exon 4 into the transcriptional repressor REST transcript, leading to REST inactivation. REST inactivation de-represses potassium-chloride cotransporter 2/SLC12A5 expression, resulting in the switch in GABAergic neurotransmission from immature excitatory to inhibitory (By similarity). Regulates inclusion of a microexon in TBC1D24 in the brain cortex (By similarity). In pancreatic islets, mediates microexon inclusion and regulates glucose- or amino acid-stimulated insulin secretion, as well as glucagon secretion (PubMed:36759540). Regulates microexon inclusion in the developing retina, which is required for outer segment maintenance and vision (By similarity)., [UniProtKB, PubMed, UniProtKB, 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": 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": "A6ND75", "ec_number_list": "", "go_molecular_function": "GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0046676 negative regulation of insulin secretion;GO:0008380 RNA splicing;GO:0070093 negative regulation of glucagon secretion", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NNA2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UGP8-1", "uniprot_id": "SEC63_HUMAN", "mass": 87997.0, "length": 760, "protein_name": "Translocation protein SEC63 homolog", "gene_name": "SEC63", "organism": "Human", "refseq_name": "translocation protein SEC63 homolog", "refseq_ac": "NP_009145", "gene_names_uniprotkb": "SEC63; DNAJC23; SEC63L", "gene_names_refseq": "DNAJC23; ERdj2; PCLD2; PRO2507; SEC63L; SEC63", "protein_names_uniprotkb": "Translocation protein SEC63 homolog; DnaJ homolog subfamily C member 23", "protein_names_refseq": "SEC63 homolog, protein translocation regulator; SEC63-like protein; dnaJ homolog subfamily C member 23; translocation protein SEC63 homolog", "tax_id": 9606, "disease": "polycystic liver disease (Disease Ontology:DOID:0050770); polycystic liver disease 2 (Disease Ontology:DOID:0060975); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:11231)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "10543453;10799540;11237011;15133510;18663603;18669648;18767875;19651622;20068231;20166139;22375059;22645359;23287549;24275569;25576301;25892735;26024233;26375851;26768311;26992070;27600516;27846572;27862975;28063628;28228285;28375157;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29719251;29769354;29789417;30192525;30315122;30429286;31154438;31844290;31848261;32133789;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33298915;33378667;33465208;33633747;33717175;33912179;33936100;33968037;34171305;34357683;34429451;34509645;34932366;35051231;35251023;35580925;36010968;36241641;37122003;40307207;40596516;40914422", "class_list": "", "function": "A Molecular Mechanism for Turning Off IRE1alpha Signaling during Endoplasmic Reticulum Stress., [RefSeq, PubMed]; Activation of ACLY by SEC63 deploys metabolic reprogramming to facilitate hepatocellular carcinoma metastasis upon endoplasmic reticulum stress. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of signal peptide features for substrate specificity in human Sec62/Sec63-dependent ER protein import., [RefSeq, PubMed]; Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates cotranslational and post-translational transport of certain precursor polypeptides across endoplasmic reticulum (ER) (PubMed:22375059, PubMed:29719251). Proposed to play an auxiliary role in recognition of precursors with short and apolar signal peptides. May cooperate with SEC62 and HSPA5/BiP to facilitate targeting of small presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen (PubMed:29719251). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Mutations in SEC63 cause autosomal dominant polycystic liver disease, suggesting a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicating noncilial ER proteins in human polycystic disease., [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 SEC62 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 15, "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": "O95380;Q5THN4;Q86VS9;Q8IWL0;Q9NTE0", "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:0031207 Sec62/Sec63 complex", "go_biological_process": "GO:0006620 post-translational protein targeting to endoplasmic reticulum membrane;GO:0006612 protein targeting to membrane;GO:0006614 SRP-dependent cotranslational protein targeting to membrane;GO:0031204 post-translational protein targeting to membrane, translocation", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q9UGP8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "H0YL14-1", "uniprot_id": "TM250_HUMAN", "mass": 16083.0, "length": 139, "protein_name": "Transmembrane protein 250", "gene_name": "TMEM250", "organism": "Human", "refseq_name": "transmembrane protein 250", "refseq_ac": "NP_001243455", "gene_names_uniprotkb": "TMEM250; C9orf69", "gene_names_refseq": "C9orf69; TMEM250", "protein_names_uniprotkb": "Transmembrane protein 250; Herpes virus UL25-binding protein", "protein_names_refseq": "herpes virus UL25-binding protein; protein C9orf69; transmembrane protein 250", "tax_id": 9606, "disease": "", "pathway": " (hsa:90120)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;21667337;33912179", "class_list": "", "function": "(Microbial infection) Promotes human herpes simplex virus 1/HHV-1 proliferation., [UniProtKB, PubMed]; May play a role in cell proliferation by promoting progression into S phase., [UniProtKB, PubMed]; This study examined host cell protein C9orf69, which promotes viral proliferation via interaction with HSV-1 UL25 protein., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0048524 positive regulation of viral process", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "H0YL14-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NY87-1", "uniprot_id": "SPNXC_HUMAN", "mass": 10982.0, "length": 97, "protein_name": "Sperm protein associated with the nucleus on the X chromosome C", "gene_name": "SPANXC", "organism": "Human", "refseq_name": "sperm protein associated with the nucleus on the X chromosome C", "refseq_ac": "NP_073152", "gene_names_uniprotkb": "SPANXC", "gene_names_refseq": "CT11.3; CTp11; SPANX-C; SPANX-E; SPANXC; SPANXE", "protein_names_uniprotkb": "Sperm protein associated with the nucleus on the X chromosome C; CT11.3; Cancer/testis antigen 11.3; Cancer/testis-associated protein CTp11; Nuclear-associated protein SPAN-Xc; SPANX family member C; SPANX-C", "protein_names_refseq": "Nuclear-associated protein SPAN-Xe; SPAN-Xc protein; Sperm protein associated with the nucleus on the X chromosome E; cancer-testis-associated protein CTp11; cancer/testis antigen 11.3; cancer/testis antigen family 11, member 3; cancer/testis-associated protein of 11 kD; nuclear-associated protein SPAN-Xc; sperm protein associated with the nucleus on the X chromosome C; sperm protein associated with the nucleus, X chromosome, family member C", "tax_id": 9606, "disease": "", "pathway": " (hsa:64663)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10626816;12758128;15139967;16251457;17373721;22941507;26895102;31072624;34087483", "class_list": "", "function": "High SPANXC expression is associated with breast cancer invasion., [RefSeq, PubMed]; Our study examined SPANX-C expression levels in primary uveal melanoma both with and without metastasis to assess if they can be used to predict metastasis. A significantly high expression of SPANX-C was seen in patients with metastasis compared to patients without metastasis., [RefSeq, PubMed]; SPANXC was found in ejaculated spermatozoa and spermatids., [RefSeq, PubMed]; Study reports the isolation of AKAP3 and CTp11 Cancer/testis antigens from hepatocellular carcinoma patient sera, [RefSeq, PubMed]; Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family, which is located in a gene cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a protein that localizes to the nucleus and is expressed in highly metastatic cell lines, making the protein a potential diagnostic and prognostic marker. The protein belongs to a family of cancer/testis antigens and represents a potential target for cancer immunotherapy. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q32WL2;Q32WL9;Q32WM0;Q5JX88;Q8TAD1;Q9BS24", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9NY87-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T200-1", "uniprot_id": "ZC3HD_HUMAN", "mass": 196635.0, "length": 1668, "protein_name": "Zinc finger CCCH domain-containing protein 13", "gene_name": "ZC3H13", "organism": "Human", "refseq_name": "zinc finger CCCH domain-containing protein 13 isoform 1", "refseq_ac": "NP_001070256", "gene_names_uniprotkb": "ZC3H13; KIAA0853", "gene_names_refseq": "KIAA0853; Xio; ZC3H13", "protein_names_uniprotkb": "Zinc finger CCCH domain-containing protein 13", "protein_names_refseq": "zinc finger CCCH domain-containing protein 13 isoform 1; zinc finger CCCH domain-containing protein 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:23091)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;15144186;16964243;17081983;17525332;18220336;18669648;19690332;20068231;21406692;23186163;23301498;24100041;24275569;24507884;25218447;25576301;25755297;25772364;26992070;27846572;28832583;28904123;29242379;29493099;29507755;29557506;30315122;30379171;30410026;30429286;30444036;31217245;31844290;32119511;32157095;32350084;32387766;32938616;32983136;33091337;33214551;33592498;33691108;33912179;33936100;33968037;34019948;34171305;34561969;34932366;35051231;35251023;35418160;35580925;35582419;35660571;36010968;36284347;37217939;37340703;37536262;37752292;37938771;38665916;39531497;40596516;41350704", "class_list": "", "function": "Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:29507755). Acts as a key regulator of m6A methylation by promoting m6A methylation of mRNAs at the 3'-UTR (By similarity). Controls embryonic stem cells (ESCs) pluripotency via its role in m6A methylation (By similarity). In the WMM complex, anchors component of the MACOM subcomplex in the nucleus (By similarity). Also required for bridging WTAP to the RNA-binding component RBM15 (RBM15 or RBM15B) (By similarity)., [UniProtKB, UniProtKB]; Enterovirus 71 VP1 promotes 5-HT release by upregulating the expression of ERICH3 and methyltransferase ZC3H13., [RefSeq, PubMed]; Identification and validation of the N6-methyladenosine RNA methylation regulator ZC3H13 as a novel prognostic marker and potential target for hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; N(6)-methyladenosine modification of CENPK mRNA by ZC3H13 promotes cervical cancer stemness and chemoresistance. Publication Status: Online-Only, [RefSeq, PubMed]; This study identified ZC3H13 significantly associated loci with a biologically plausible role in schizophrenia., [RefSeq, PubMed]; ZC3H13 Accelerates Keloid Formation by Mediating N[6]-methyladenosine Modification of HIPK2., [RefSeq, PubMed]; ZC3H13 reduced DUOX1-mediated ferroptosis in laryngeal squamous cell carcinoma cells through m6A-dependent modification., [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": 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": 52, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 68, "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": "A2A323;O94936;Q5T1Z9;Q7Z7J3;Q8NDT6;Q9H0L6", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0036396 RNA N6-methyladenosine methyltransferase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:2000036 regulation of stem cell population maintenance", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q5T200-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRE2-1", "uniprot_id": "TSH2_HUMAN", "mass": 115005.0, "length": 1034, "protein_name": "Teashirt homolog 2", "gene_name": "TSHZ2", "organism": "Human", "refseq_name": "teashirt homolog 2 isoform 2", "refseq_ac": "NP_001180350", "gene_names_uniprotkb": "TSHZ2; C20orf17; TSH2; ZNF218", "gene_names_refseq": "C20orf17; OVC10-2; TSH2; TSHZ2; ZABC2; ZNF218", "protein_names_uniprotkb": "Teashirt homolog 2; OVC10-2; Ovarian cancer-related protein 10-2; Zinc finger protein 218", "protein_names_refseq": "cell growth-inhibiting protein 7; ovarian cancer-related protein 10-2; serologically defined colon cancer antigen 33 like; teashirt family zinc finger 2; teashirt homolog 2 isoform 2; teashirt homolog 2; zinc finger protein 218", "tax_id": 9606, "disease": "", "pathway": " (hsa:128553)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;15561718;19343227;19745106;23481700;25218447;25892735;26744317;29557506;30379171;32938616;33850468;34158398;34171305;34561969;35051231;36010968", "class_list": "", "function": "Down-regulation of TSHZ2 is crucial for mammary tumorigenesis via the activation of GLI1., [RefSeq, PubMed]; Mutations in TSHZ2 and TSHZ3 are not a major cause of pelvi-ureteric junction obstruction, at least in Albanian and Macedonian populations. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Overexpression of Teashirt Homolog 2 suppresses cell proliferation and predicts the favorable survival of Lung Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential)., [UniProtKB]; TSHZ2 is an EGF-regulated tumor suppressor that binds to the cytokinesis regulator PRC1 and inhibits metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the teashirt C2H2-type zinc-finger protein family of transcription factors. This gene encodes a protein with five C2H2-type zinc fingers, a homeobox DNA-binding domain and a coiled-coil domain. This nuclear protein is predicted to act as a transcriptional repressor. This gene is thought to play a role in the development and progression of breast and other types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 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": 54, "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": "B7Z7W1;J3KNQ0;Q4VXM4;Q6N003;Q8N260", "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:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9NRE2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BVL4-1", "uniprot_id": "SELO_HUMAN", "mass": 73489.0, "length": 669, "protein_name": "Protein adenylyltransferase SelO, mitochondrial", "gene_name": "SELENOO", "organism": "Human", "refseq_name": "protein adenylyltransferase SelO, mitochondrial", "refseq_ac": "NP_113642", "gene_names_uniprotkb": "SELENOO; SELO", "gene_names_refseq": "SELENOO; SELO", "protein_names_uniprotkb": "Protein adenylyltransferase SelO, mitochondrial; 2.7.7.-; 2.7.7.108; SelO; Selenoprotein O", "protein_names_refseq": "protein adenylyltransferase SelO, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:83642)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "12775843;223596;23481700;24275569;24751718;25576301;25880248;25892735;27600516;27645994;28063628;28904123;29393594;29557506;29632046;30270044;30315122;31844290;32157095;32357974;32387766;32502341;32938616;32983136;33298915;33592498;33912179;33981976;34019948;35051231;36010968", "class_list": "", "function": "Catalyzes the transfer of adenosine 5'-monophosphate (AMP) to Ser, Thr and Tyr residues of target proteins (AMPylation) (PubMed:30270044). May be a redox-active mitochondrial selenoprotein which interacts with a redox target protein (PubMed:24751718)., [UniProtKB, PubMed, PubMed]; SelO is a redox-active mitochondrial selenoprotein. Publication Status: Online-Only, [RefSeq, PubMed]; The SELO protein has a protein domain with significant albeit remote sequence similarity to protein kinase-like proteins., [RefSeq, PubMed]; This gene encodes a selenoprotein that is localized to the mitochondria. It is the largest mammalian 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. The exact function of this selenoprotein is not known, but it is thought to have redox activity. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 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": "Q2TAL2;Q5JZ81;Q8WUI0", "ec_number_list": "3.1.4.-;2.7.7.108;2.7.7.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0070733 AMPylase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005694 chromosome", "go_biological_process": "GO:0018117 protein adenylylation", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9BVL4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86XT9-1", "uniprot_id": "TM219_HUMAN", "mass": 25724.0, "length": 240, "protein_name": "Insulin-like growth factor-binding protein 3 receptor", "gene_name": "TMEM219", "organism": "Human", "refseq_name": "insulin-like growth factor-binding protein 3 receptor isoform 1 precursor", "refseq_ac": "NP_001077082", "gene_names_uniprotkb": "TMEM219", "gene_names_refseq": "IGFBP-3R; IGFBP3R; TMEM219", "protein_names_uniprotkb": "Insulin-like growth factor-binding protein 3 receptor; IGFBP-3R; Transmembrane protein 219", "protein_names_refseq": "insulin-like growth factor-binding protein 3 receptor isoform 1 precursor; insulin-like growth factor-binding protein 3 receptor; testicular tissue protein Li 203", "tax_id": 9606, "disease": "", "pathway": " (hsa:124446); (R-HSA-6803211)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10.1101/2023.09.13.557529;10777207;11237011;11382926;14623878;15289308;15769996;16230375;19615968;20353938;23365256;25576301;26154972;26378048;27920218;28832583;31844290;32157095;32488085;32938616;32983136;33592498;33936100;33968037;34357683;35051231;35115561;35580925;38318298;7566179;9326928", "class_list": "", "function": "Cell death receptor specific for IGFBP3, may mediate caspase-8-dependent apoptosis upon ligand binding., [UniProtKB, PubMed]; TMEM219 regulates the transcription factor expression and proliferation of beta cells. Publication Status: Online-Only, [RefSeq, PubMed]; The IGFBP3/TMEM219 pathway regulates beta cell homeostasis. 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": 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": 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": "D5FK14;Q8WVV8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0006915 apoptotic process;GO:0050728 negative regulation of inflammatory response;GO:0070371 ERK1 and ERK2 cascade;GO:0032905 transforming growth factor beta1 production", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q86XT9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NS98-1", "uniprot_id": "SEM3G_HUMAN", "mass": 86701.0, "length": 782, "protein_name": "Semaphorin-3G", "gene_name": "SEMA3G", "organism": "Human", "refseq_name": "semaphorin-3G precursor", "refseq_ac": "NP_064548", "gene_names_uniprotkb": "SEMA3G", "gene_names_refseq": "SEMA3G; sem2", "protein_names_uniprotkb": "Semaphorin-3G; Semaphorin sem2", "protein_names_refseq": "sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G; semaphorin sem2; semaphorin-3G precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56920)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;18083107;18781179;18818766;20947821;22562223;25335934;26992070;28228285;29557506;29643231;29741879;32157095;32387766;32452055;33586674;35051231;35580925;37074911;37633476;38795838", "class_list": "", "function": "Endothelium-derived semaphorin 3G attenuates ischemic retinopathy by coordinating beta-catenin-dependent vascular remodeling., [RefSeq, PubMed]; Has chemorepulsive activities for sympathetic axons. Ligand of NRP2 (By similarity)., [UniProtKB]; Identification of a four immune-related genes signature based on an immunogenomic landscape analysis of clear cell renal cell carcinoma., [RefSeq, PubMed]; Identify Sema3G as a primarily endothelial cell-expressed class 3 semaphorin that controls endothelial and smooth muscle cell functions in autocrine and paracrine manners., [RefSeq, PubMed]; In gliomas, SEMA3B, SEMA3G and NRP2 expressions were related to prolonged survival, [RefSeq, PubMed]; Overexpressed SEMA3G inhibited the migratory and invasive behavior of U251MG cancer cells, [RefSeq, PubMed]; Results identify Sema3g as one of the downstream effectors of PPAR-gamma, which is centrally involved in regulating endothelial cell migration., [RefSeq, PubMed]; SEMA3G functions as a novel prognostic biomarker associated with Wnt pathway in clear cell renal cell carcinoma., [RefSeq, PubMed]; SEMA3G regulates BMP9 inhibition of VEGF-mediated migration and network formation in pulmonary endothelial cells., [RefSeq, PubMed]; Sema3G inhibits tumor progression from MDA-MB-435 but not from MDA-MB-231 cancer cells. It inhibits tumor angiogenesis in MDA-MB-231 cells. Publication Status: Online-Only, [RefSeq, PubMed]; The transcription of this gene is activated by PPAR-gamma, and the resulting protein product plays a role in endothelial cell migration. Expression of this gene also inhibits tumor cell migration and invasion. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q7L9D9;Q9H7Q3", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0030215 semaphorin receptor binding;GO:0038191 neuropilin binding;GO:0045499 chemorepellent activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "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": 2.5, "record_id": "Q9NS98-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q69YW2-1", "uniprot_id": "STUM_HUMAN", "mass": 15007.0, "length": 141, "protein_name": "Protein stum homolog", "gene_name": "STUM", "organism": "Human", "refseq_name": "protein stum homolog isoform 1", "refseq_ac": "NP_001003665", "gene_names_uniprotkb": "STUM; C1orf95", "gene_names_refseq": "C1orf95; STUM", "protein_names_uniprotkb": "Protein stum homolog", "protein_names_refseq": "protein stum homolog isoform 1; protein stum homolog; stumble homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:375057)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;25505266;29605689;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A6NGL2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q69YW2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZQ5-1", "uniprot_id": "SELH_HUMAN", "mass": 13453.0, "length": 122, "protein_name": "Selenoprotein H", "gene_name": "SELENOH", "organism": "Human", "refseq_name": "selenoprotein H", "refseq_ac": "NP_001308264", "gene_names_uniprotkb": "SELENOH; C11orf31; SELH", "gene_names_refseq": "C11orf31; C17orf10; SELENOH; SELH", "protein_names_uniprotkb": "Selenoprotein H; SelH", "protein_names_refseq": "selenoprotein H", "tax_id": 9606, "disease": "colorectal adenoma (Disease Ontology:DOID:0050860); colorectal carcinoma (Disease Ontology:DOID:0080199)", "pathway": " (hsa:280636)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;12775843;17337453;17389926;17526492;18991276;19608861;19615748;19766117;20656065;24366607;24715725;25576301;27588899;27645994;27846572;27869121;27920218;28832583;29242379;29330096;29480333;29557506;30192525;30779550;31154438;31530632;31844290;31848261;32157095;32350084;32488085;32502341;33936100;33968037;33981976;34171305;34510207;35251023;35318648;35580925;36241641;36581221;38665916", "class_list": "", "function": "HSelH overexpression protects cells from UVB irradiation-induced murine hippocampal neuronal cell death by reducing the superoxide formation. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of Selenoprotein H Isoforms and Impact of Selenoprotein H Overexpression on Protein But Not mRNA Levels of 2 Other Selenoproteins in 293T Cells. Erratum:[J Nutr. 2021 Nov 2;151(11):3597. doi: 10.1093/jn/nxab346. PMID: 34726735], [RefSeq, PubMed]; May be involved in a redox-related process., [UniProtKB, UniProtKB, UniProtKB]; Overexpression of SelH promotes mitochondrial biogenesis and improves mitochondrial functional performance., [RefSeq, PubMed]; SelH is a novel nucleolar oxidoreductase that may have functions which are regulated by redox and dependent on the trace element selenium, [RefSeq, PubMed]; Selenoprotein H is a redox-responsive DNA-binding protein of the AT-hook family and functions in regulating expression levels of genes involved in de novo glutathione synthesis and phase II detoxification in response to redox status., [RefSeq, PubMed]; T SelH protects neurons against UVB-induced damage by inhibiting apoptotic cell death pathways, [RefSeq, PubMed]; The high levels of SELENOH in tumors as well as in undifferentiated, proliferative cells together with its inhibitory effects on proliferation and G1/S phase transition suggest SELENOH as a key regulator for cell cycle progression and for prevention of uncontrolled proliferation, [RefSeq, PubMed]; The obtained results clearly illustrate Sec residue plays an important role to restore functionally active conformation of SELENOH. The present study broadened our current understanding regarding the role of selenocysteine in protein structure and function., [RefSeq, PubMed]; This gene encodes a nucleolar protein, which belongs to the SelWTH family. It functions as an oxidoreductase, and has been shown to protect neurons against UVB-induced damage by inhibiting apoptotic cell death pathways, promote mitochondrial biogenesis and mitochondrial function, and suppress cellular senescence through genome maintenance and redox regulation. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2016]., [RefSeq]; Transcriptome analysis revealed that SepH deficiency induces an inflammatory response and activates the p53 pathway. Consequently, loss of seph renders larvae susceptible to oxidative stress and DNA damage. Finally, we demonstrate that seph interacts with p53 deficiency in adulthood to accelerate gastrointestinal tumor 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": 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": "Q8N672", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005794 Golgi apparatus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q8IZQ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15785-1", "uniprot_id": "TOM34_HUMAN", "mass": 34559.0, "length": 309, "protein_name": "Mitochondrial import receptor subunit TOM34", "gene_name": "TOMM34", "organism": "Human", "refseq_name": "mitochondrial import receptor subunit TOM34", "refseq_ac": "NP_006800", "gene_names_uniprotkb": "TOMM34; URCC3", "gene_names_refseq": "HTOM34P; TOM34; TOMM34; URCC3", "protein_names_uniprotkb": "Mitochondrial import receptor subunit TOM34; Translocase of outer membrane 34 kDa subunit; hTom34", "protein_names_refseq": "mitochondrial import receptor subunit TOM34; outer mitochondrial membrane translocase (34kD); translocase of outer membrane 34 kDa subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:10953)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10101285;11913975;11913976;16820880;17081983;17322306;18767875;19651622;20068231;21406692;22706990;23186163;23481700;24366607;24612787;24714562;24715725;25505266;25576301;25880248;25892735;26154972;26728094;26992070;27846572;27920218;28228285;28266765;28514659;28832583;28904123;29242379;29331515;29493099;29632711;29769354;30192525;30410026;30429286;31217245;31844290;31848261;32157095;32350084;32371396;32488085;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33717175;33912179;33968037;34019948;34229054;34257607;34357683;35051231;35251023;35580925;36367442;36581221;37217939;39276680;9324309;9660753", "class_list": "", "function": "High Expression of Tomm34 and Its Correlations With Clinicopathology in Oral Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the import of cytosolically synthesized preproteins into mitochondria. Binds the mature portion of precursor proteins. Interacts with cellular components, and possesses weak ATPase activity. May be a chaperone-like protein that helps to keep newly synthesized precursors in an unfolded import compatible state., [UniProtKB, PubMed, PubMed, PubMed]; Role of TOMM34 on NF-kappaB activation-related hyperinflammation in severely ill patients with COVID-19 and influenza., [RefSeq, PubMed]; TOMM34 promotes cell proliferation, migration, and invasion of OSCC and modulates mitochondrial function., [RefSeq, PubMed]; The interaction of the mitochondrial protein importer TOMM34 with HSP70 is regulated by TOMM34 phosphorylation and binding to 14-3-3 adaptors., [RefSeq, PubMed]; The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [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": 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": "Q53GH9;Q6IBN7;Q9NTZ3", "ec_number_list": "", "go_molecular_function": "GO:0031072 heat shock protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006626 protein targeting to mitochondrion", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q15785-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01266-1", "uniprot_id": "THYG_HUMAN", "mass": 304790.0, "length": 2768, "protein_name": "Thyroglobulin", "gene_name": "TG", "organism": "Human", "refseq_name": "thyroglobulin precursor", "refseq_ac": "NP_003226", "gene_names_uniprotkb": "TG", "gene_names_refseq": "AITD3; TGN; TG", "protein_names_uniprotkb": "Thyroglobulin; Tg", "protein_names_refseq": "thyroglobulin precursor; thyroid hormones", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); isolated growth hormone deficiency (Disease Ontology:DOID:0060870); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); thyroid dyshormonogenesis 3 (Disease Ontology:DOID:0112187); goiter (Disease Ontology:DOID:12176); Graves' disease (Disease Ontology:DOID:12361); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); hypothyroidism (Disease Ontology:DOID:1459); autoimmune thyroiditis (Disease Ontology:DOID:7188); autoimmune thyroid disease, susceptibility to, 3 (MONDO:MONDO:0011982)", "pathway": " (hsa:7038)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "10199792;10448091;10524569;11082042;11124863;11237011;14657345;1639210;16477365;16679516;17244789;17532758;18452278;18566446;19117535;19509106;19664994;20303712;22098450;22259066;24715725;25628020;27305979;2760035;2914619;29557506;29741879;29786170;2991855;31844290;32025030;32198668;32387766;32983136;33592498;33912179;34509645;35051231;3595599;35995381;36010968;3681978;37043922;37164149;37690364;37906818;38065908;3971976;4335100;7793989;8094490;8269951;8615697;8626858;8797845;9186272", "class_list": "", "function": "Acts as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3) (PubMed:17532758, PubMed:32025030). The synthesis of T3 and T4 involves iodination of selected tyrosine residues of TG/thyroglobulin followed by their oxidative coupling in the thyroid follicle lumen (PubMed:32025030). Following TG re-internalization and lysosomal-mediated proteolysis, T3 and T4 are released from the polypeptide backbone leading to their secretion into the bloodstream (PubMed:32025030). One dimer produces 7 thyroid hormone molecules (PubMed:32025030)., [UniProtKB, PubMed, PubMed]; Diagnostic value of thyroglobulin washout in fine-needle aspiration samples for diagnosis and follow-up of differentiated thyroid cancer., [RefSeq, PubMed]; Lymph node ratio independently associated with postoperative thyroglobulin levels in papillary thyroid cancer., [RefSeq, PubMed]; Serum thyroglobulin as a biomarker of iodine excess and thyroid disease occurrence in adults., [RefSeq, PubMed]; The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism., [RefSeq, PubMed]; Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]., [RefSeq]; [Analysis of pre-ablative and preoperative thyroglobulin in differentiated thyroid cancer]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 4, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 20, "reported_o_glycosites": 1, "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": 21, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 21, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 155, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 21, "disease_count": 10, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "O15274;O43899;Q15593;Q15948;Q9NYR1;Q9NYR2;Q9UMZ0;Q9UNY3", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0030878 thyroid gland development;GO:0007165 signal transduction;GO:0042446 hormone biosynthetic process;GO:0006590 thyroid hormone generation", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "P01266-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q70J99-1", "uniprot_id": "UN13D_HUMAN", "mass": 123282.0, "length": 1090, "protein_name": "Protein unc-13 homolog D", "gene_name": "UNC13D", "organism": "Human", "refseq_name": "protein unc-13 homolog D", "refseq_ac": "NP_954712", "gene_names_uniprotkb": "UNC13D", "gene_names_refseq": "HLH3; HPLH3; Munc13-4; UNC13D", "protein_names_uniprotkb": "Protein unc-13 homolog D; Munc13-4", "protein_names_refseq": "protein unc-13 homolog D", "tax_id": 9606, "disease": "familial hemophagocytic lymphohistiocytosis 3 (Disease Ontology:DOID:0110923)", "pathway": " (hsa:201294); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "11214971;11237011;14622600;14699162;15466010;15548590;16964243;17081983;17237785;18669648;19531498;19651622;20058876;20068231;22424782;23481700;23650620;24714562;25548167;25576301;25645385;25892735;26154972;26375851;26768311;26992070;27543614;27846572;27862975;27920218;28063628;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30779550;31092671;31154438;31844290;32157095;32350084;32387766;32488085;32502341;32897882;32983136;33141586;33392160;33513601;33537174;33717175;33867526;33936100;33968037;33981976;34171305;34185709;34339548;34561969;34932366;35051231;35251023;35293882;35580925;36241641;36284347;37938771;39469717;40914422;8692836", "class_list": "", "function": "Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period., [RefSeq, PubMed]; Functional role of UNC13D in immune diseases and its therapeutic applications. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms., [RefSeq, PubMed]; HMunc13-4 mutations were shown to cause familial hemophagocytic lymphohistiocytosis; HMunc13-4 is essential for the priming step of cytolytic granules secretion preceding vesicle membrane fusion., [RefSeq, PubMed]; MUNC13-4 mutations play a role in the development of familial haemophagocytic lymphohistiocytosis subtype 3 through a defective cytotoxic pathway, [RefSeq, PubMed]; Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells., [UniProtKB, PubMed, PubMed]; Rab27 regulates the dense core granule secretion in platelets by employing its binding protein, Munc13-4, [RefSeq, PubMed]; Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis., [RefSeq, PubMed]; This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [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": 1, "reported_glycation": 0, "reported_snv": 27, "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": "B4DWG9;Q9H7K5", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0016020 membrane;GO:0055037 recycling endosome;GO:0005764 lysosome", "go_biological_process": "GO:1903307 positive regulation of regulated secretory pathway;GO:1900026 positive regulation of substrate adhesion-dependent cell spreading;GO:0006887 exocytosis;GO:0043304 regulation of mast cell degranulation;GO:0046903 secretion", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q70J99-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q495X7-1", "uniprot_id": "TRI60_HUMAN", "mass": 55114.0, "length": 471, "protein_name": "Tripartite motif-containing protein 60", "gene_name": "TRIM60", "organism": "Human", "refseq_name": "tripartite motif-containing protein 60", "refseq_ac": "NP_001244954", "gene_names_uniprotkb": "TRIM60; RNF129; RNF33", "gene_names_refseq": "RNF129; RNF33; TRIM60", "protein_names_uniprotkb": "Tripartite motif-containing protein 60; RING finger protein 129; RING finger protein 33", "protein_names_refseq": "ring finger protein 129; ring finger protein 33; tripartite motif-containing protein 60", "tax_id": 9606, "disease": "", "pathway": " (hsa:166655)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;19240061;33184450", "class_list": "", "function": "E3 SUMO-protein ligase that mediates SUMOylation of TAB2 leading to inhibition of NF-kappa-B and MAPK pathways by suppressing the TRAF6/TAB2/TAK1 complex., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Pseudogenes of this gene are located on more than six chromosomes including chromosome 4. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q8NA35", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0140082 SUMO-ubiquitin ligase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0045087 innate immune response;GO:1901223 negative regulation of non-canonical NF-kappaB signal transduction;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q495X7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07101-1", "uniprot_id": "TY3H_HUMAN", "mass": 58600.0, "length": 528, "protein_name": "Tyrosine 3-monooxygenase", "gene_name": "TH", "organism": "Human", "refseq_name": "tyrosine 3-monooxygenase isoform b", "refseq_ac": "NP_000351", "gene_names_uniprotkb": "TH; TYH", "gene_names_refseq": "DYT14; DYT5b; TH; TYH", "protein_names_uniprotkb": "Tyrosine 3-monooxygenase; 1.14.16.2; TH; Tyrosine 3-hydroxylase", "protein_names_refseq": "dystonia 14; tyrosine 3-hydroxylase; tyrosine 3-monooxygenase isoform b; tyrosine 3-monooxygenase", "tax_id": 9606, "disease": "autosomal recessive Segawa syndrome (Disease Ontology:DOID:0051059); withdrawal disorder (Disease Ontology:DOID:0060001); Parkinsonism (Disease Ontology:DOID:0080855); traumatic brain injury (Disease Ontology:DOID:0081292); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); polycystic ovary syndrome (Disease Ontology:DOID:11612); hyperprolactinemia (Disease Ontology:DOID:12700); Parkinson's disease (Disease Ontology:DOID:14330); Machado-Joseph disease (Disease Ontology:DOID:1440); depressive disorder (Disease Ontology:DOID:1596); epilepsy (Disease Ontology:DOID:1826); brain ischemia (Disease Ontology:DOID:2316); middle cerebral artery infarction (Disease Ontology:DOID:3525); uremia (Disease Ontology:DOID:4676); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:7054); (R-HSA-209905)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10391209;10585338;11196107;11237011;11246459;11359875;11401575;11502746;12421349;1347949;15287903;1540578;15447670;15471880;15505183;15747353;16049992;16644734;1678738;1680128;17391063;17696123;18058633;18181650;18406059;18513370;18554280;1857555;18639636;19491146;1973163;19801645;20056467;20166139;20430833;20809526;21302933;21940685;22264700;22483316;22815559;23762320;23939262;24753243;24947669;2590185;27958651;28637871;2882428;2887169;2888085;2892893;2896667;2902075;29557506;30808844;31035382;31217245;31844290;3372503;34238765;3443096;34922205;35013193;35051231;35561310;37011980;37624484;37840187;37938771;38084654;6150037;7789962;7814018;7901013;7961964;8101641;8528210;8817341;9327834;9613851;9703425;9754624", "class_list": "", "function": "Association of tyrosine hydroxylase 01 (TH01) microsatellite and insulin gene (INS) variable number of tandem repeat (VNTR) with type 2 diabetes and fasting insulin secretion in Mexican population., [RefSeq, PubMed]; Catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-Dopa), the rate-limiting step in the biosynthesis of catecholamines, dopamine, noradrenaline, and adrenaline. Uses tetrahydrobiopterin and molecular oxygen to convert tyrosine to L-Dopa (PubMed:15287903, PubMed:1680128, PubMed:17391063, PubMed:24753243, PubMed:34922205, PubMed:8528210, Ref.18). In addition to tyrosine, is able to catalyze the hydroxylation of phenylalanine and tryptophan with lower specificity (By similarity). Positively regulates the regression of retinal hyaloid vessels during postnatal development (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Lacks catalytic activity., [UniProtKB, PubMed]; The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1., [RefSeq, PubMed]; [Clinical and genetic analysis of tyrosine hydroxylase deficiency of six cases]., [RefSeq, PubMed]; [Clinical and genetic characteristics of children with dopa-responsive dystonia caused by tyrosine hydroxylase gene variations]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 17, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 20, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZL70;B7ZL73;Q0PWM2;Q0PWM3;Q15585;Q15588;Q15589;Q2M3B4", "ec_number_list": "1.14.16.2", "go_molecular_function": "GO:0005506 iron ion binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0004511 tyrosine 3-monooxygenase activity;GO:0016714 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005790 smooth endoplasmic reticulum;GO:0005829 cytosol;GO:0030424 axon", "go_biological_process": "GO:1990384 hyaloid vascular plexus regression;GO:0006585 dopamine biosynthetic process from tyrosine;GO:0007507 heart development;GO:0007612 learning;GO:0007613 memory", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "P07101-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2Y6-1", "uniprot_id": "TMM98_HUMAN", "mass": 24611.0, "length": 226, "protein_name": "Transmembrane protein 98", "gene_name": "TMEM98", "organism": "Human", "refseq_name": "transmembrane protein 98", "refseq_ac": "NP_001028676", "gene_names_uniprotkb": "TMEM98; PRO1079", "gene_names_refseq": "TADA1; TMEM98", "protein_names_uniprotkb": "Transmembrane protein 98; Protein TADA1", "protein_names_refseq": "transmembrane protein 98", "tax_id": 9606, "disease": "nanophthalmos (Disease Ontology:DOID:0080634)", "pathway": " (hsa:26022)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11230166;11237011;12975309;24608572;24852644;25645385;25946230;26392740;26992070;27600516;28834231;29557506;29789417;30429286;30779550;31048900;31154438;31844290;31848261;32157095;32379372;32488085;32938616;33203948;33596443;35051231;35251023;35580925;35866395;36284347;37419942;37938771", "class_list": "", "function": "A novel gene associated with nanophthalmos, TMEM98 most likely represents the cause of the disease., [RefSeq, PubMed]; A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity., [RefSeq, PubMed]; Functions as a negative regulator of MYRF in oligodendrocyte differentiation and myelination. Interacts with the C-terminal of MYRF inhibiting MYRF self-cleavage and N-fragment nuclear translocation. The secreted form promotes differentiation of T helper 1 cells (Th1)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. Publication Status: Online-Only, [RefSeq, PubMed]; Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM98 mRNA promotes proliferation and invasion of gastric cells by directly interacting with NF90 protein., [RefSeq, PubMed]; This gene encodes a transmembrane protein. A missense mutation in this gene result in Nanophthalmos 4 (NNO4). Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2014]., [RefSeq]; Tumor-Suppressor Gene Transmembrane Protein 98 Promotes Proliferation and Inhibits Apoptosis in Ovarian Cancer., [RefSeq, PubMed]; We identified a panel of novel common chemoresistance-associated genes and demonstrated that TMEM98 is a chemoresistance-conferring gene 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "E1P631;Q9UFK2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0045063 T-helper 1 cell differentiation;GO:1900181 negative regulation of protein localization to nucleus;GO:0031642 negative regulation of myelination;GO:0048715 negative regulation of oligodendrocyte differentiation;GO:0010955 negative regulation of protein processing", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9Y2Y6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZR9-1", "uniprot_id": "TRIM8_HUMAN", "mass": 61489.0, "length": 551, "protein_name": "E3 ubiquitin-protein ligase TRIM8", "gene_name": "TRIM8", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM8 isoform 1", "refseq_ac": "NP_112174", "gene_names_uniprotkb": "TRIM8; GERP; RNF27", "gene_names_refseq": "FSGSNEDS; GERP; RNF27; TRIM8", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM8; 2.3.2.27; Glioblastoma-expressed RING finger protein; RING finger protein 27; RING-type E3 ubiquitin transferase TRIM8; Tripartite motif-containing protein 8", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM8 isoform 1; RING-type E3 ubiquitin transferase TRIM8; glioblastoma-expressed RING finger protein; probable E3 ubiquitin-protein ligase TRIM8; ring finger protein 27; tripartite motif protein TRIM8", "tax_id": 9606, "disease": "focal segmental glomerulosclerosis and neurodevelopmental syndrome (MONDO:MONDO:0100111)", "pathway": " (hsa:81603); (R-HSA-877300)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "10067896;10986460;11118312;11237011;11331580;11972023;12040185;12163497;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15345195;15388922;15530433;16237089;16467876;17125875;18362138;18591661;20049711;20130243;20304997;20363976;20516148;22084099;23061660;23152791;24417533;24714562;26375851;26728094;26992070;27346735;27600516;27846572;27981609;28124119;28747347;28904123;29393594;29557506;30244534;30410026;30429286;31844290;32157095;32193649;32357974;32488085;32502341;32938616;32983136;33239784;33298915;33508234;33592498;33691108;33717175;33968037;34405274;34871740;35051231;35318648;35494241;35561310;35580925;36010968;36241641;36284347;36690946;37914816;38237865;38879600;38881325;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "A pathogenic effect of a heterozygous truncating mutation in the tripartite motif containing 8 (TRIM8) gene on the postnatal development of the human brain., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that participates in multiple biological processes including cell survival, differentiation, apoptosis, and in particular, the innate immune response (PubMed:27981609, PubMed:28747347). Participates in the activation of interferon-gamma signaling by promoting proteasomal degradation of the repressor SOCS1 (PubMed:12163497). Plays a positive role in the TNFalpha and IL-1beta signaling pathways. Mechanistically, induces the 'Lys-63'-linked polyubiquitination of MAP3K7/TAK1 component leading to the activation of NF-kappa-B (PubMed:22084099, PubMed:23152791, PubMed:27981609, PubMed:34871740). Also modulates STAT3 activity through negative regulation of PIAS3, either by degradation of PIAS3 through the ubiquitin-proteasome pathway or exclusion of PIAS3 from the nucleus (PubMed:20516148). Negatively regulates TLR3/4-mediated innate immune response by catalyzing 'Lys-6'- and 'Lys-33'-linked polyubiquitination of TICAM1 and thereby disrupting the TICAM1-TBK1 interaction (PubMed:28747347)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Gerp transcribes interferon-gamma in epithelial and lymphoid cells and is expressed almost ubiquitously in tissues., [RefSeq, PubMed]; Interacts with SOCS-1, [RefSeq, PubMed]; Mutual regulation between TRIM21 and TRIM8 via K48-linked ubiquitination., [RefSeq, PubMed]; TRIB3-TRIM8 complex drives NAFLD progression by regulating HNF4alpha stability., [RefSeq, PubMed]; TRIM8 promotes ovarian cancer proliferation and migration by targeting VDAC2 for ubiquitination and degradation., [RefSeq, PubMed]; TRIM8: a double-edged sword in glioblastoma with the power to heal or hurt. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE). [provided by RefSeq, Sep 2016]., [RefSeq]; Tripartite motif 8 promotes the progression of hepatocellular carcinoma via mediating ubiquitination of HNF1alpha. 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": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 13, "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": "A6NI31;Q9C028", "ec_number_list": "2.3.2.27;2.7.7.84;1.8.4.-;1.8.-.-;2.3.2.-;3.6.1.-;3.6.5.-;2.7.11.1;2.3.1.-;6.3.2.n3", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016605 PML body", "go_biological_process": "GO:0032897 negative regulation of viral transcription;GO:0044790 suppression of viral release by host;GO:0045087 innate immune response;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0010508 positive regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q9BZR9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5GH70-1", "uniprot_id": "XKR9_HUMAN", "mass": 43406.0, "length": 373, "protein_name": "XK-related protein 9", "gene_name": "XKR9", "organism": "Human", "refseq_name": "XK-related protein 9 isoform 2", "refseq_ac": "NP_001011720", "gene_names_uniprotkb": "XKR9; XRG9", "gene_names_refseq": "XKR9; XRG9; hXKR9", "protein_names_uniprotkb": "XK-related protein 9; hXKR9", "protein_names_refseq": "X Kell blood group precursor-related family, member 9; X-linked Kx blood group related 9; XK, Kell blood group complex subunit-related family, member 9; XK-related protein 9 isoform 2; XK-related protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:389668)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;24715725;25231987;26992070;27005419;27600516;28218747;28904123;29557506;29789417;30429286;31154438;32157095;32387766;32488085;34263724;34357683;35051231;35580925", "class_list": "", "function": "Cryo-EM structures of the caspase-activated protein XKR9 involved in apoptotic lipid scrambling. Publication Status: Online-Only, [RefSeq, PubMed]; Phospholipid scramblase that promotes phosphatidylserine exposure on apoptotic cell surface (PubMed:25231987). Phosphatidylserine is a specific marker only present at the surface of apoptotic cells and acts as a specific signal for engulfment (PubMed:25231987)., [UniProtKB, PubMed]; This genome-wide study of never smokers from the general population identified two independent regions related to erythrocyte cadmium. The strongest locus covers the XKR9 and LACTB2 genes, which both could have related functions in cadmium absorption and metabolism, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RNS9;B9EH74", "ec_number_list": "3.1.-.-;1.6.5.5", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q5GH70-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N2C7-1", "uniprot_id": "UNC80_HUMAN", "mass": 363390.0, "length": 3258, "protein_name": "Protein unc-80 homolog", "gene_name": "UNC80", "organism": "Human", "refseq_name": "protein unc-80 homolog isoform 1", "refseq_ac": "NP_115893", "gene_names_uniprotkb": "UNC80; C2orf21; KIAA1843", "gene_names_refseq": "C2orf21; UNC-80; UNC80", "protein_names_uniprotkb": "Protein unc-80 homolog", "protein_names_refseq": "protein unc-80 homolog isoform 1; protein unc-80 homolog; unc-80 homolog, NALCN activator; unc-80 homolog, NALCN channel complex subunit", "tax_id": 9606, "disease": "hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (MONDO:MONDO:0014777)", "pathway": " (hsa:285175); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 115, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19535918;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;2298749;23112050;2321095;23616951;24715725;2536303;25502872;26359375;26545877;26562072;26708751;26708753;26853435;27846572;28071645;28154142;28790369;28832583;29393594;29557506;29572195;29786170;30167850;30315122;30429286;31154438;31217245;32387766;32488085;32494638;32502341;32620897;33392160;33592498;34929720;35051231;35387979;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Auxilary subunit of the NALCN channelosome complex, which regulates the resting membrane potential by depolarizing sodium leak currents (PubMed:32494638, PubMed:35387979, PubMed:34929720). The NALCN channelosome complex is a voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability (PubMed:35387979, PubMed:34929720). The NALCN channelosome is constitutively active and conducts monovalent cations but is blocked by physiological concentrations of extracellular divalent cations (PubMed:32494638). Activated by neuropeptides substance P, neurotensin, and extracellular Ca(2+) that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current (PubMed:32494638). UNC80 is also essential for NALCN sensitivity to extracellular Ca(2+) (PubMed:32494638)., [UniProtKB, PubMed, PubMed, PubMed]; Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes, [RefSeq, PubMed]; Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]., [RefSeq]; UNC80 functions as a scaffold for Src kinases in NALCN channel function., [RefSeq, PubMed]; UNC80 variant is associated with neurodevelopmental diseases., [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": 0, "reported_glycation": 0, "reported_snv": 91, "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": "B2RN50;B4DQY9;B4DZB3;C4IXS8;C9J1U3;Q96JI4;Q96SS0", "ec_number_list": "", "go_molecular_function": "GO:0005261 monoatomic cation channel activity", "go_cellular_component": "GO:0034703 cation channel complex;GO:0005886 plasma membrane;GO:0030424 axon;GO:0034706 sodium channel complex", "go_biological_process": "GO:0035725 sodium ion transmembrane transport;GO:0098908 regulation of neuronal action potential;GO:0055080 monoatomic cation homeostasis", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q8N2C7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N2U0-1", "uniprot_id": "TM256_HUMAN", "mass": 11742.0, "length": 113, "protein_name": "Transmembrane protein 256", "gene_name": "TMEM256", "organism": "Human", "refseq_name": "transmembrane protein 256 precursor", "refseq_ac": "NP_689979", "gene_names_uniprotkb": "TMEM256; C17orf61", "gene_names_refseq": "C17orf61; TMEM256", "protein_names_uniprotkb": "Transmembrane protein 256", "protein_names_refseq": "UPF0451 protein C17orf61; transmembrane protein 256 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:254863)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;24714562;26196085;27664330;28832583;28834231;29242379;29557506;29632046;31154438;31217245;31844290;32157095;33141586;33592498;34357683;35051231;35580925", "class_list": "", "function": "Western blot experiments designed to detect flotillin 2, TMEM256, Rab3B and LAMTOR1 showed that the level of these proteins was higher in urinary exosomes from prostate cancer patients compared to healthy males, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "diagnostic", "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:0005739 mitochondrion;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8N2U0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P16662-1", "uniprot_id": "UD2B7_HUMAN", "mass": 60721.0, "length": 529, "protein_name": "UDP-glucuronosyltransferase 2B7", "gene_name": "UGT2B7", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 2B7 isoform 1 precursor", "refseq_ac": "NP_001065", "gene_names_uniprotkb": "UGT2B7; UGTB2B9", "gene_names_refseq": "UDPGT 2B7; UDPGT 2B9; UDPGT2B7; UDPGTH2; UDPGTh-2; UGT2B7; UGT2B9", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 2B7; 2.4.1.17; 3,4-catechol estrogen-specific UDPGT; UDP-glucuronosyltransferase 2B9; UDPGT 2B7; UDPGT 2B9; UDPGTh-2; UGT2B7", "protein_names_refseq": "3,4-catechol estrogen specific; 3,4-catechol estrogen-specific UDPGT; UDP glucuronosyltransferase 2 family, polypeptide B7; UDP-glucuronosyltransferase 2B7 isoform 1 precursor; UDP-glucuronosyltransferase 2B7; UDP-glucuronosyltransferase 2B9; UDP-glucuronyltransferase, family 2, beta-7", "tax_id": 9606, "disease": "", "pathway": " (hsa:7364); (R-HSA-156588); (R-HSA-9749641); (R-HSA-9757110)", "pathway_count": 4, "publication_count": 124, "publication_id_list": "10220572;10434065;10484077;10665657;10673364;10702251;10729196;11186130;11237011;11504826;11581266;11902585;12379510;12433823;12466373;12604685;12616642;12673034;1339448;1352877;1356264;1359686;13741103;14570768;14661924;15135306;15175422;15231852;15470161;15472229;15472518;15904907;16258079;16837570;16858120;16943252;17200165;17442341;17482904;1783992;18052085;18177842;18282684;18513745;18674515;18719240;19022937;19159218;19289110;19447222;19545173;1968359;19836360;19862647;20190787;20583968;20621639;21422672;21490593;2159463;22240840;22294686;22344233;22674043;23063411;23288867;23756265;2570070;25800201;25840124;26208431;26220143;2639662;27411675;27556486;28132103;28677105;2876781;2898143;29557506;30137266;3082969;31701669;32387766;32981041;3342084;3472246;35580925;3593903;36571650;3705620;37074911;3709632;37340142;38211441;39054222;39171428;39894887;4639028;5013373;5773090;5862532;6492791;6654901;6777177;6796486;6838677;7073761;7195405;7206363;7310640;7400951;7588203;7802672;7865904;8027054;8687483;9144407;9169006;931988;9543163;9652413;975718;9816258", "class_list": "glycogene;glycosyltransferase", "function": "Bearing variant alleles at uridine glucuronosyltransferase polymorphisms UGT2B7 -161C > T (rs7668258) or UGT1A4*3 c.142 T > G (rs2011425) has no relevant consequences for lamotrigine troughs in adults with epilepsy., [RefSeq, PubMed]; Impact of UGT1A4 and UGT2B7 polymorphisms on lamotrigine plasma concentration in patients with bipolar disorder., [RefSeq, PubMed]; Influence of UDP-Glucuronosyltransferase Polymorphisms on Mycophenolic Acid Metabolism in Renal Transplant Patients., [RefSeq, PubMed]; Significance of UGT1A6, UGT1A9, and UGT2B7 genetic variants and their mRNA expression in the clinical outcome of renal cell carcinoma., [RefSeq, PubMed]; The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]., [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:10702251, PubMed:15231852, PubMed:15470161, PubMed:15472229, PubMed:17442341, PubMed:18674515, PubMed:18719240, PubMed:19022937, PubMed:21422672, PubMed:23288867, PubMed:23756265, PubMed:26220143, PubMed:38211441, PubMed:9169006). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:15470161, PubMed:18674515, PubMed:23756265). Catalyzes the glucuronidation of endogenous steroid hormones such as androgens (epitestosterone, androsterone) and estrogens (estradiol, epiestradiol, estriol, catechol estrogens) (PubMed:15472229, PubMed:17442341, PubMed:18719240, PubMed:19022937, PubMed:2159463, PubMed:23288867, PubMed:26220143, PubMed:9169006). Also regulates the levels of retinoic acid, a major metabolite of vitamin A involved in apoptosis, cellular growth and differentiation, and embryonic development (PubMed:10702251). Contributes to bile acid (BA) detoxification by catalyzing the glucuronidation of BA substrates, which are natural detergents for dietary lipids absorption (PubMed:23756265). Involved in the glucuronidation of arachidonic acid (AA) and AA-derived eicosanoids including 15-HETE, 20-HETE, PGE2, PGB1 and F2-isoprostanes (8-iso-PGF2alpha and 5-epi-5-F2t-IsoP) (PubMed:15231852, PubMed:38211441). Involved in the glucuronidation of the phytochemical ferulic acid at the phenolic or the carboxylic acid group (PubMed:21422672). Involved in the glucuronidation of the AGTR1 angiotensin receptor antagonist losartan, caderastan and zolarsatan, drugs which can inhibit the effect of angiotensin II (PubMed:18674515). Also metabolizes mycophenolate, an immunosuppressive agent (PubMed:15470161)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 3, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 880, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 53, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R810;Q6GTW0", "ec_number_list": "2.4.1.17;2.4.1.170;2.4.1.185", "go_molecular_function": "GO:0015020 glucuronosyltransferase activity;GO:0008194 UDP-glycosyltransferase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0006629 lipid metabolic process;GO:0006805 xenobiotic metabolic process;GO:0008209 androgen metabolic process", "synthesized_glycan_count": 0, "hit_score": 18.2, "record_id": "P16662-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TB05-1", "uniprot_id": "UBAD1_HUMAN", "mass": 18954.0, "length": 177, "protein_name": "UBA-like domain-containing protein 1", "gene_name": "UBALD1", "organism": "Human", "refseq_name": "UBA-like domain-containing protein 1 isoform 2", "refseq_ac": "NP_001317396", "gene_names_uniprotkb": "UBALD1; FAM100A; PP11303", "gene_names_refseq": "FAM100A; PP11303; UBALD1", "protein_names_uniprotkb": "UBA-like domain-containing protein 1", "protein_names_refseq": "UBA-like domain-containing protein 1 isoform 2; UBA-like domain-containing protein 1; family with sequence similarity 100, member A; protein FAM100A", "tax_id": 9606, "disease": "", "pathway": " (hsa:124402)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;15498874;25418920;25576301;25892735;26154972;26992070;27600516;27846572;27920218;28063628;28218747;28832583;28904123;29242379;29393594;29557506;29632046;29769354;30429286;31844290;32157095;33912179;34087483;34932366", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q71MF6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8TB05-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HA47-1", "uniprot_id": "UCK1_HUMAN", "mass": 31435.0, "length": 277, "protein_name": "Uridine-cytidine kinase 1", "gene_name": "UCK1", "organism": "Human", "refseq_name": "uridine-cytidine kinase 1 isoform b", "refseq_ac": "NP_001129426", "gene_names_uniprotkb": "UCK1; URK1", "gene_names_refseq": "UCK1; URK1", "protein_names_uniprotkb": "Uridine-cytidine kinase 1; 2.7.1.48; Cytidine monophosphokinase 1; UCK 1; Uridine monophosphokinase 1", "protein_names_refseq": "cytidine monophosphokinase 1; uridine monophosphokinase 1; uridine-cytidine kinase 1 isoform b", "tax_id": 9606, "disease": "nerve compression syndrome (Disease Ontology:DOID:573)", "pathway": " (hsa:83549); (R-HSA-73614)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "1063125;11237011;11306702;12199906;12429345;12808445;12849978;1406603;14609716;14725767;15130468;15689149;15733844;1590793;1597187;18080217;18669648;19291308;19413330;195585;1996353;2026611;20722631;23186163;24275569;24714562;24715725;2539852;2542307;2548513;25892735;26288249;26758079;26992070;27239701;27862975;27906629;27920218;28228285;28411811;2844225;28514659;28832583;28834231;28904123;29242379;29393594;29508533;29557506;29786170;30315122;30779550;31844290;31848261;31938050;32157095;32502341;32938616;3335503;33392160;33717175;3372530;34087483;35051231;35561310;36010968;7284378;7488099;7923172;8340387;9804782;9989599", "class_list": "", "function": "Knockdown of endogenous UCK2 as well as overexpression of UCK1 resulted in decreased metabolism of uridine and cytidine and protected neuroblastoma cells from 3-deazauridine-induced toxicity. Subcellular localization studies showed that UCK1-GFP and UCK2-GFP were localized in the cell nucleus and cytosol, respectively., [RefSeq, PubMed]; Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate (PubMed:11306702). Does not phosphorylate deoxyribonucleosides or purine ribonucleosides (PubMed:11306702). Can use ATP or GTP as a phosphate donor (PubMed:11306702). Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine (PubMed:11306702)., [UniProtKB, PubMed]; Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine., [UniProtKB, UniProtKB]; Results from a study on gene expression variability markers in early-stage human embryos shows that UCK1 is a putative expression variability marker for the 3-day, 8-cell embryo stage. Publication Status: Online-Only, [RefSeq, PubMed]; Ribavirin is a potential substrate of UCK-1, and RMP formed could be chemically coupled to AsOR to form a conjugate for liver specific targeting., [RefSeq, PubMed]; This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012]., [RefSeq]; UCK1 and 2 are both expressed in several neuroblastoma cell lines, including four MYCN single copy cell lines and five MYCN amplified cell lines, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JT09;Q5JT10;Q5JT12;Q5JT13;Q6IA74;Q96BJ0", "ec_number_list": "2.7.1.48", "go_molecular_function": "GO:0005524 ATP binding;GO:0004849 uridine kinase activity;GO:0043771 cytidine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0044206 UMP salvage;GO:0044211 CTP salvage", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9HA47-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86X45-1", "uniprot_id": "DAA11_HUMAN", "mass": 54255.0, "length": 466, "protein_name": "Dynein axonemal assembly factor 11", "gene_name": "DNAAF11", "organism": "Human", "refseq_name": "dynein axonemal assembly factor 11 isoform b", "refseq_ac": "NP_001308890", "gene_names_uniprotkb": "DNAAF11; LRRC6; LRTP; TSLRP", "gene_names_refseq": "CILD19; DNAAF11; LRRC6; LRTP; TSLRP; tilB", "protein_names_uniprotkb": "Dynein axonemal assembly factor 11; DNAAF11; Leucine-rich repeat-containing protein 6; Leucine-rich testis-specific protein; Protein tilB homolog; Testis-specific leucine-rich repeat protein", "protein_names_refseq": "dynein axonemal assembly factor 11 isoform b; leucine rich repeat containing 6; protein TILB homolog; seahorse; testis-specific leucine-rich repeat protein", "tax_id": 9606, "disease": "primary ciliary dyskinesia 19 (Disease Ontology:DOID:0110608)", "pathway": " (hsa:23639)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;23122589;23527195;23891469;25186273;28218747;29511670;29601588;30379171;30779550;31154438;31844290;32157095;32897882;33403504;33968037;33981976;34171305;35051231;36241641;36515799;39894887", "class_list": "", "function": "Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility., [RefSeq, PubMed]; Involved in dynein arm assembly, is important for expression and transporting outer dynein arm (ODA) proteins from the cytoplasm to the cilia (PubMed:23122589, PubMed:23527195, PubMed:33403504). Acts as a crucial component in the formation and motility of spermatozoal flagella (PubMed:33403504)., [UniProtKB, PubMed, PubMed, PubMed]; Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia., [RefSeq, PubMed]; The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [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": 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": "Q13648;Q4G183", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;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:0008584 male gonad development;GO:0044458 motile cilium assembly;GO:0061512 protein localization to cilium", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q86X45-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WVT3-1", "uniprot_id": "TPC12_HUMAN", "mass": 79375.0, "length": 735, "protein_name": "Trafficking protein particle complex subunit 12", "gene_name": "TRAPPC12", "organism": "Human", "refseq_name": "trafficking protein particle complex subunit 12", "refseq_ac": "NP_001308031", "gene_names_uniprotkb": "TRAPPC12; CGI-87; TRAMM; TTC15", "gene_names_refseq": "CGI-87; PEBAS; TRAPPC12; TTC-15; TTC15", "protein_names_uniprotkb": "Trafficking protein particle complex subunit 12; TPR repeat protein 15; TTC-15; Tetratricopeptide repeat protein 15; Trafficking of membranes and mitosis", "protein_names_refseq": "TPR repeat protein 15; tetratricopeptide repeat domain 15; tetratricopeptide repeat protein 15; trafficking of membranes and mitosis; trafficking protein particle complex 12; trafficking protein particle complex subunit 12", "tax_id": 9606, "disease": "early-onset progressive encephalopathy with brain atrophy and spasticity (Disease Ontology:DOID:0070745)", "pathway": " (hsa:51112); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 244, "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;16959974;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18559336;18585354;18664496;18669648;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19413330;19490898;19620288;19656848;19690332;19725050;19729655;19745841;20008558;20154091;20159109;20159556;20166139;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;23645161;23678941;23684622;23713133;23839779;24296415;24644286;24694596;24714562;24715725;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25418920;25472813;25576301;25648148;25713415;25892735;25918224;25925668;26055712;26154972;26177209;26245486;26434594;26538022;26728094;26811146;26925400;26929215;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27600516;27920218;28063628;28228285;28240221;28777934;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30779550;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32387766;32488085;32938616;32983136;33298915;33912179;33936100;33968037;34087483;34171305;34357683;34932366;35051231;35132862;35580925;36241641;36284347;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Component of the TRAPP complex, which is involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage (PubMed:21525244, PubMed:28777934). Also plays a role in chromosome congression, kinetochore assembly and stability and controls the recruitment of CENPE to the kinetochores (PubMed:25918224)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; TRAPPC12, but not TRAPPC8, bound to Sec13/Sec31A tetramer but each Sec protein alone could not interact with TRAPPC12. Publication Status: Online-Only, [RefSeq, PubMed]; The authors report that variants in TRAPPC12 result in progressive childhood encephalopathy. Fibroblasts derived from three affected individuals showed a fragmented Golgi that could be rescued by expression of wild-type TRAPPC12., [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": 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": "B3KV01;D6W4Y2;Q8WVW1;Q9Y395", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0051310 metaphase chromosome alignment;GO:1905342 positive regulation of protein localization to kinetochore;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0048208 COPII vesicle coating;GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 24.7, "record_id": "Q8WVT3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12767-1", "uniprot_id": "TMM94_HUMAN", "mass": 151151.0, "length": 1356, "protein_name": "Transmembrane protein 94", "gene_name": "TMEM94", "organism": "Human", "refseq_name": "transmembrane protein 94 isoform 2", "refseq_ac": "NP_001308077", "gene_names_uniprotkb": "TMEM94; ERMA; KIAA0195", "gene_names_refseq": "ERMA; IDDCDF; KIAA0195; TMEM94", "protein_names_uniprotkb": "Transmembrane protein 94; Endoplasmic reticulum magnesium ATPase", "protein_names_refseq": "ER Mg2+ ATPase; endoplasmic reticulum magnesium ATPase; endoplasmic reticulum magnesium-transporting P-type ATPase; transmembrane protein 94 isoform 2", "tax_id": 9606, "disease": "intellectual developmental disorder with cardiac defects and dysmorphic facies (MONDO:MONDO:0032672)", "pathway": " (hsa:9772)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17081983;18691976;19369195;19651622;21406692;23186163;24275569;24715725;26154972;26992070;27846572;27920218;28218747;28228285;28467828;28514659;28832583;29242379;29393594;29557506;29632046;29769354;29789417;30315122;30524438;30526868;30833945;31844290;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32825426;32897882;32938616;33717175;33968037;34171305;34357683;34509645;35051231;35580925;36010968;36241641;38513662;38879951", "class_list": "", "function": "Could function in the uptake of Mg(2+) from the cytosol into the endoplasmic reticulum and regulate intracellular Mg(2+) homeostasis., [UniProtKB, PubMed]; ERMA (TMEM94) is a P-type ATPase transporter for Mg[2+] uptake in the endoplasmic reticulum., [RefSeq, PubMed]; Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 18, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 9452, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "C9JL75;O75536;Q86XF1", "ec_number_list": "", "go_molecular_function": "GO:0015444 P-type magnesium transporter activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0010961 intracellular magnesium ion homeostasis;GO:0160176 magnesium ion transport from cytosol to endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q12767-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z4K8-1", "uniprot_id": "TRI46_HUMAN", "mass": 83424.0, "length": 759, "protein_name": "Tripartite motif-containing protein 46", "gene_name": "TRIM46", "organism": "Human", "refseq_name": "tripartite motif-containing protein 46 isoform 2", "refseq_ac": "NP_001243528", "gene_names_uniprotkb": "TRIM46; TRIFIC", "gene_names_refseq": "GENEY; TRIFIC; TRIM46", "protein_names_uniprotkb": "Tripartite motif-containing protein 46; Gene Y protein; GeneY; Tripartite, fibronectin type-III and C-terminal SPRY motif protein", "protein_names_refseq": "gene Y protein; tripartite motif-containing protein 46 isoform 2; tripartite motif-containing protein 46; tripartite, fibronectin type-III and C-terminal SPRY motif protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:80128); (R-HSA-877300)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10067896;10986460;11237011;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16434393;16467876;17125875;18362138;18591661;20049711;20130243;20304997;20363976;23061660;24417533;31844290;32387766;33239784;33556457;34459501;35354796;35670901;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "Axonal TAU Sorting Requires the C-terminus of TAU but is Independent of ANKG and TRIM46 Enrichment at the AIS., [RefSeq, PubMed]; Microtubule-associated protein that is involved in the formation of parallel microtubule bundles linked by cross-bridges in the proximal axon. Required for the uniform orientation and maintenance of the parallel microtubule fascicles, which are important for efficient cargo delivery and trafficking in axons. Thereby also required for proper axon specification, the establishment of neuronal polarity and proper neuronal migration., [UniProtKB, UniProtKB]; SNP rs4971059 predisposes to breast carcinogenesis and chemoresistance via TRIM46-mediated HDAC1 degradation., [RefSeq, PubMed]; TRIM46 activates AKT/HK2 signaling by modifying PHLPP2 ubiquitylation to promote glycolysis and chemoresistance of lung cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM46 upregulates Wnt/beta-catenin signaling by inhibiting Axin1 to mediate hypoxia-induced epithelial-mesenchymal transition in HK2 cells., [RefSeq, PubMed]; This gene encodes a protein of the tripartite motif (TRIM) family. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. TRIM46 is reported to be involved in the proliferation of multiple types of cancer cells including lung and breast cancer. It has also been shown to control neuronal polarity and axon specification by forming uniform microtubule bundles in the axon. [provided by RefSeq, May 2022]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "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": "A0AVI6;B1AVQ4;Q5VT60;Q5VT62;Q6NT17;Q6NT41;Q6ZRL7;Q9H5P2", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0044304 main axon;GO:1904115 axon cytoplasm;GO:0043194 axon initial segment;GO:1990769 proximal neuron projection", "go_biological_process": "GO:0007409 axonogenesis;GO:0001764 neuron migration;GO:0032880 regulation of protein localization;GO:0048490 anterograde synaptic vesicle transport;GO:0001578 microtubule bundle formation", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q7Z4K8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2M389-1", "uniprot_id": "WASC4_HUMAN", "mass": 136403.0, "length": 1173, "protein_name": "WASH complex subunit 4", "gene_name": "WASHC4", "organism": "Human", "refseq_name": "WASH complex subunit 4 isoform 2", "refseq_ac": "NP_056090", "gene_names_uniprotkb": "WASHC4; KIAA1033", "gene_names_refseq": "KIAA1033; MRT43; SWIP; WASHC4", "protein_names_uniprotkb": "WASH complex subunit 4; SWIP; Strumpellin and WASH-interacting protein; WASH complex subunit SWIP", "protein_names_refseq": "WASH complex subunit 4 isoform 2; WASH complex subunit 7; WASH complex subunit SWIP; strumpellin and WASH-interacting protein", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 43 (Disease Ontology:DOID:0081207); Wiskott-Aldrich syndrome (Disease Ontology:DOID:9169)", "pathway": " (hsa:23325)", "pathway_count": 1, "publication_count": 94, "publication_id_list": "11237011;18452278;18691976;19922875;20068231;20376207;20498093;21498477;22424782;23186163;23676666;24366607;24714562;25576301;25880248;26154972;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28467828;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30429286;30484775;31092671;31217245;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33298915;33592498;33691108;33717175;33749590;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35154160;35561310;35580925;36010968;36241641;36284347;36995008;37938771", "class_list": "", "function": "Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting., [UniProtKB, PubMed, PubMed, PubMed]; Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans. Publication Status: Online-Only, [RefSeq, PubMed]; SWIP mediates retromer-independent membrane recruitment of the WASH complex., [RefSeq, PubMed]; This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]., [RefSeq]; WAFL may play an important role in endocytosis and subsequent membrane trafficking by interacting with AP2 through KIAA0196 and KIAA1033 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": 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": "Q2NL83;Q8IW61;Q8N5W7;Q9NVD6;Q9UPW7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005768 endosome;GO:0031901 early endosome membrane;GO:0071203 WASH complex", "go_biological_process": "GO:0015031 protein transport;GO:0007032 endosome organization;GO:0016197 endosomal transport;GO:0034315 regulation of Arp2/3 complex-mediated actin nucleation;GO:0140591 nuclear envelope budding", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q2M389-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5HYL7-1", "uniprot_id": "TM196_HUMAN", "mass": 19025.0, "length": 178, "protein_name": "Transmembrane protein 196", "gene_name": "TMEM196", "organism": "Human", "refseq_name": "transmembrane protein 196 isoform 1", "refseq_ac": "NP_689987", "gene_names_uniprotkb": "TMEM196", "gene_names_refseq": "TMEM196", "protein_names_uniprotkb": "Transmembrane protein 196", "protein_names_refseq": "transmembrane protein 196 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:256130)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;26056045;30536447;30694883;33392160;36355209", "class_list": "", "function": "Acts as a tumor suppressor in lung cancer (PubMed:26056045, PubMed:36355209). Inhibits tumor cell growth by inhibiting cell proliferation and migration and promoting cell apoptosis (PubMed:26056045, PubMed:36355209). Inhibits metastasis of lung cancer by suppressing beta-catenin expression in the Wnt/beta-catenin signaling pathway (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Low TMEM196 expression is associated with lung cancer., [RefSeq, PubMed]; TMEM196 acts as a novel functional tumour suppressor inactivated by DNA methylation and is an independent prognostic factor of lung cancer, [RefSeq, PubMed]; TMEM196 inhibits lung cancer metastasis by regulating the Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; The minor alleles of the four SNPs in TMEM196 may exert a protective effect against the development of NSAID-exacerbated respiratory disease(NERD) and may be useful genetic markers to predict the risk of NERD., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8N6I6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "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:0090090 negative regulation of canonical Wnt signaling pathway;GO:0030336 negative regulation of cell migration;GO:0030308 negative regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5HYL7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UK41-1", "uniprot_id": "VPS28_HUMAN", "mass": 25425.0, "length": 221, "protein_name": "Vacuolar protein sorting-associated protein 28 homolog", "gene_name": "VPS28", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 28 homolog isoform 1", "refseq_ac": "NP_057292", "gene_names_uniprotkb": "VPS28", "gene_names_refseq": "CIIA; VPS28", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 28 homolog; ESCRT-I complex subunit VPS28; H-Vps28", "protein_names_refseq": "ESCRT-I complex subunit VPS28; VPS28, ESCRT-I subunit; vacuolar protein sorting 28 homolog; vacuolar protein sorting 28-like protein; vacuolar protein sorting-associated protein 28 homolog isoform 1; vacuolar protein sorting-associated protein 28 homolog; yeast class E protein Vps28p homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:51160); (R-HSA-162588); (R-HSA-174490); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9615710)", "pathway_count": 6, "publication_count": 74, "publication_id_list": "11112487;11237011;11527981;11563910;11916981;12663786;12857913;14505570;14624836;15075231;15218037;15473846;15509564;15613341;16371348;16775314;16973552;17853893;18005716;18539118;19527882;19640981;21238931;21289126;21757351;2204156;22762019;23266279;23305486;25961502;26811146;26992070;27846572;27920218;2799391;28228285;28467828;28832583;28904123;29242379;29314611;29557506;29632711;29786170;30315122;30429286;30929741;31154438;31530632;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32502341;33141586;33298915;33392160;33592498;33936100;33968037;34019948;34087483;34509645;34561969;35154160;35580925;36215666;36241641;37217939;9506952;9525617", "class_list": "", "function": "Component of the ESCRT-I complex, a regulator of vesicular trafficking process., [UniProtKB, PubMed]; EIAV Gag interacts with a cellular component of the VPS machinery, VPS28, to accomplish efficient particle release, [RefSeq, PubMed]; This gene encodes a protein subunit of the ESCRT-I complex (endosomal complexes required for transport), which functions in the transport and sorting of proteins into subcellular vesicles. This complex can also be hijacked to facilitate the budding of enveloped viruses from the cell membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q86VK0", "ec_number_list": "", "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex;GO:0043328 protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;GO:2000397 positive regulation of ubiquitin-dependent endocytosis;GO:0016236 macroautophagy", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9UK41-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NA31-1", "uniprot_id": "TERB1_HUMAN", "mass": 83064.0, "length": 727, "protein_name": "Telomere repeats-binding bouquet formation protein 1", "gene_name": "TERB1", "organism": "Human", "refseq_name": "telomere repeats-binding bouquet formation protein 1", "refseq_ac": "NP_001129977", "gene_names_uniprotkb": "TERB1; CCDC79", "gene_names_refseq": "CCDC79; SPGF60; TERB1", "protein_names_uniprotkb": "Telomere repeats-binding bouquet formation protein 1; Coiled-coil domain-containing protein 79", "protein_names_refseq": "coiled-coil domain-containing protein 79; telomere repeats-binding bouquet formation protein 1", "tax_id": 9606, "disease": "spermatogenic failure 60 (Disease Ontology:DOID:0112355)", "pathway": " (hsa:283847)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10.1101/2023.09.13.557529;11237011;25576301;29557506;30559341;30718482;32741963;33211200;35051231;38277113", "class_list": "", "function": "A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility., [RefSeq, PubMed]; Complementary structured illumination microscopy studies and biochemical findings reveal a telomere attachment mechanism in which MAJIN-TERB2-TERB1 recruits telomere-bound TRF1, which is then displaced during pachytene, allowing MAJIN-TERB2-TERB1 to bind telomeric DNA and form a mature attachment plate. Publication Status: Online-Only, [RefSeq, PubMed]; Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. Erratum:[Hum Genet. 2021 Jan;140(1):229. doi: 10.1007/s00439-020-02244-1. PMID: 33377991], [RefSeq, PubMed]; Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the MAJIN-TERB1-TERB2 complex, TERB1 probably mediates association with the shelterin/telosome complex via interaction with TERF1, promoting priming telomeric DNA attachment'. Promotes telomere association with the nuclear envelope and deposition of the SUN-KASH/LINC complex. Also recruits cohesin to telomeres to develop structural rigidity., [UniProtKB, UniProtKB]; The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 9409, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AUW1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0070187 shelterin complex;GO:0005637 nuclear inner membrane;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0070197 meiotic attachment of telomere to nuclear envelope;GO:0007129 homologous chromosome pairing at meiosis;GO:0045141 meiotic telomere clustering", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8NA31-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C7T8-1", "uniprot_id": "TM253_HUMAN", "mass": 23522.0, "length": 217, "protein_name": "Transmembrane protein 253", "gene_name": "TMEM253", "organism": "Human", "refseq_name": "transmembrane protein 253 isoform 1", "refseq_ac": "NP_001140155", "gene_names_uniprotkb": "TMEM253; C14orf176; C14orf95", "gene_names_refseq": "C14orf176; C14orf95; NCRNA00220; TMEM253", "protein_names_uniprotkb": "Transmembrane protein 253", "protein_names_refseq": "transmembrane protein 253 isoform 1; transmembrane protein C14orf176", "tax_id": 9606, "disease": "", "pathway": " (hsa:643382)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0C7T8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95389-1", "uniprot_id": "CCN6_HUMAN", "mass": 39293.0, "length": 354, "protein_name": "Cellular communication network factor 6", "gene_name": "CCN6", "organism": "Human", "refseq_name": "cellular communication network factor 6 isoform 1 precursor", "refseq_ac": "NP_003871", "gene_names_uniprotkb": "CCN6; PRO956; WISP3", "gene_names_refseq": "CCN6; LIBC; PPAC; PPD; PPRD; WISP-3; WISP3", "protein_names_uniprotkb": "Cellular communication network factor 6; CCN family member 6; WISP-3; WNT1-inducible-signaling pathway protein 3", "protein_names_refseq": "CCN family member 6; WNT1 inducible signaling pathway protein 3; cellular communication network factor 6 isoform 1 precursor; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "progressive pseudorheumatoid arthropathy of childhood (Disease Ontology:DOID:0090004); arthropathy (Disease Ontology:DOID:381); breast metaplastic carcinoma (Disease Ontology:DOID:4680)", "pathway": " (hsa:8838)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10471507;11237011;12975309;16152649;19064006;22685593;22987568;25738435;25794430;25988854;27252383;27436824;29092958;33392160;36794678;37105075;37590989;37608493;37679035;9843955", "class_list": "", "function": "CCN6 influences transcription and controls mitochondrial mass and muscle organization., [RefSeq, PubMed]; Directed differentiation of human pluripotent stem cells into articular cartilage reveals effects caused by absence of WISP3, the gene responsible for progressive pseudorheumatoid arthropathy of childhood., [RefSeq, PubMed]; Dual roles of cellular communication network factor 6 (CCN6) in the invasion and metastasis of oral cancer cells to bone via binding to BMP2 and RANKL., [RefSeq, PubMed]; Effects of CCN6 overexpression on the cell motility and activation of p38/bone morphogenetic protein signaling pathways in pancreatic cancer cells., [RefSeq, PubMed]; OTUB1 inhibits breast cancer by non-canonically stabilizing CCN6., [RefSeq, PubMed]; Plays a role in mitochondrial electron transport and mitochondrial respiration (PubMed:27252383). Through its regulation of the mitochondrial function may play a role in normal postnatal skeletal growth and cartilage homeostasis (PubMed:10471507, PubMed:27252383)., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q3KR29;Q5H8W4;Q6UXH6", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005739 mitochondrion;GO:0031012 extracellular matrix;GO:0005576 extracellular region", "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:0051881 regulation of mitochondrial membrane potential", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "O95389-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0JNW5-1", "uniprot_id": "BLT3B_HUMAN", "mass": 164199.0, "length": 1464, "protein_name": "Bridge-like lipid transfer protein family member 3B", "gene_name": "BLTP3B", "organism": "Human", "refseq_name": "bridge-like lipid transfer protein family member 3B isoform b", "refseq_ac": "NP_001006948", "gene_names_uniprotkb": "BLTP3B; KIAA0701; SHIP164; UHRF1BP1L", "gene_names_refseq": "BLTP3B; SHIP164A; SHIP164; UHRF1BP1L", "protein_names_uniprotkb": "Bridge-like lipid transfer protein family member 3B; Syntaxin-6 Habc-interacting protein of 164 kDa; UHRF1-binding protein 1-like", "protein_names_refseq": "UHRF1 (ICBP90) binding protein 1-like; UHRF1 binding protein 1 like; bridge-like lipid transfer protein family member 3B isoform b; syntaxin 6Habc-interacting protein of 164 kDa; syntaxin-6 Habc-interacting protein of 164 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:23074); (R-HSA-9696270)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10.1101/2023.09.13.557529;10664463;11230166;11237011;11940653;12244061;12842009;14732713;15738000;16481321;17081983;18669648;18996843;19136556;19413330;19651622;20163565;20811643;21406692;23186163;23422819;23481700;24275569;24690281;24715725;25576301;25645385;25888806;26154972;26969432;26992070;27893789;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30379171;30410026;30484775;30524438;31844290;31871319;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;33981976;34405274;34509645;34932366;35051231;35318648;35494241;35499567;35580925;36010968;36241641;36284347", "class_list": "", "function": "3 genes identified by association study and supported by ocular expression and/or replication, UHRF1BP1L, PTPRR, and PPFIA2, are novel candidates for myopic development within the MYP3 locus that should be further studied. Publication Status: Online-Only, [RefSeq, PubMed]; SHIP164 is a chorein motif lipid transfer protein that controls endosome-Golgi membrane traffic., [RefSeq, PubMed]; Tube-forming lipid transport protein which mediates the transfer of lipids between membranes at organelle contact sites (PubMed:35499567). Required for retrograde traffic of vesicle clusters in the early endocytic pathway to the Golgi complex (PubMed:20163565, PubMed:35499567)., [UniProtKB, PubMed, PubMed]; UHRF1BP1L was identified as an Syntaxin6 interacting protein (called SHIP164) which regulates sorting form coated early endosomes, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 45, "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": "A0PJE5;O75183;Q8NDL1;Q96C30;Q9BTS5;Q9H0F1", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0120013 lipid transfer activity;GO:0062069 GARP complex binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0120009 intermembrane lipid transfer;GO:0034498 early endosome to Golgi transport", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "A0JNW5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P52744-1", "uniprot_id": "ZN138_HUMAN", "mass": 30592.0, "length": 262, "protein_name": "Zinc finger protein 138", "gene_name": "ZNF138", "organism": "Human", "refseq_name": "zinc finger protein 138 isoform 3", "refseq_ac": "NP_001258566", "gene_names_uniprotkb": "ZNF138", "gene_names_refseq": "ZNF138; pHZ-32", "protein_names_uniprotkb": "Zinc finger protein 138", "protein_names_refseq": "zinc finger protein 138 (clone pHZ-32); zinc finger protein 138 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:7697); (R-HSA-212436)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26992070;28832583;28834231;29493099;31844290;32357974;33912179;34185709;35580925;7557990;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation as a repressor., [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": "B4DFX2;B4DP87;E9PHI7;E9PHK7", "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": 2.5, "record_id": "P52744-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96QD9-1", "uniprot_id": "UIF_HUMAN", "mass": 35818.0, "length": 318, "protein_name": "UAP56-interacting factor", "gene_name": "FYTTD1", "organism": "Human", "refseq_name": "UAP56-interacting factor isoform 2", "refseq_ac": "NP_001011537", "gene_names_uniprotkb": "FYTTD1; UIF", "gene_names_refseq": "FYTTD1; UIF", "protein_names_uniprotkb": "UAP56-interacting factor; Forty-two-three domain-containing protein 1; Protein 40-2-3", "protein_names_refseq": "UAP56-interacting factor isoform 2; UAP56-interacting factor; forty-two-three domain-containing protein 1; protein 40-2-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:84248); (R-HSA-159236); (R-HSA-72187)", "pathway_count": 3, "publication_count": 129, "publication_id_list": "10228171;10323864;10489353;10668806;11073998;11230166;11237011;11256625;11259411;11259602;11579093;11739738;11756420;11979277;12093754;12871933;15998806;16314397;16964243;17000901;17081983;17190602;17984224;18364396;18411249;18423201;18578522;18691976;18957205;19413330;19651622;19664995;19836239;20068231;20129943;20388717;20573985;20844015;21406692;21947206;22207203;22893130;22928037;23186163;23222130;23299939;23481700;23826332;24244187;24714562;24715725;25418920;25576301;25645385;25662211;25755297;25836925;25880248;26154972;26375851;26728094;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30301920;30315122;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32357974;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33981976;34171305;34211107;34433824;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;36581221;37938771;9618489;9660949", "class_list": "", "function": "FYTTD1 was named UIF for UAP56 Interacting Factor. UIF is an mRNA export adaptor, recruited to mRNA by SSRP1 of the FACT complex. It also binds mRNA and NXF1. It is required for efficient nuclear export of mRNA in vertebrates and other animals., [RefSeq, PubMed]; In both ORF57 and ICP27 the interaction sites for ALYREF and UIF partially overlap, suggestive of mutually exclusive binding. The data provide a map of the binding sites responsible for promoting herpes virus mRNA export, enabling future studies to accurately probe these interactions and reveal the functional consequences for UIF and ALYREF redundancy Publication Status: Online-Only, [RefSeq, PubMed]; Required for mRNA export from the nucleus to the cytoplasm. Acts as an adapter that uses the DDX39B/UAP56-NFX1 pathway to ensure efficient mRNA export and delivering to the nuclear pore. Associates with spliced and unspliced mRNAs simultaneously with ALYREF/THOC4., [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": 8, "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": "A8MY74;B2RCB2;B7Z3R4;B7Z7V1;B7Z8I0;B7ZAJ3;C9J7P6;C9JNG6;C9JTH3;C9JY50;Q96SL9;Q9BQI8", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006406 mRNA export from nucleus", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q96QD9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60704-1", "uniprot_id": "TPST2_HUMAN", "mass": 41912.0, "length": 377, "protein_name": "Protein-tyrosine sulfotransferase 2", "gene_name": "TPST2", "organism": "Human", "refseq_name": "protein-tyrosine sulfotransferase 2 isoform 1", "refseq_ac": "NP_001008566", "gene_names_uniprotkb": "TPST2", "gene_names_refseq": "TANGO13B; TPST-2; TPST2", "protein_names_uniprotkb": "Protein-tyrosine sulfotransferase 2; 2.8.2.20; TPST-2; Tyrosylprotein sulfotransferase 2", "protein_names_refseq": "protein-tyrosine sulfotransferase 2 isoform 1; protein-tyrosine sulfotransferase 2; transport and golgi organization 13 homolog B; tyrosylprotein phosphotransferase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8459); (R-HSA-156584); (R-HSA-163841); (R-HSA-9674519); (R-HSA-9942503)", "pathway_count": 5, "publication_count": 81, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10199779;10224133;10503886;10512730;11016445;11077054;11154739;11230166;11237011;11457664;11739018;12039030;12056800;12145317;12372849;12889478;14622112;14633848;14672934;15102834;15137908;15358107;1554716;16303743;18477386;18606703;18672380;1898735;19158273;22195972;2268288;23479625;23481380;23584533;24190977;24971579;25059662;25660941;25813380;26108987;27920218;28514659;29393594;29557506;29632046;29632711;30459171;31154438;31611695;31844290;31848261;32265295;32287057;32350084;32387766;32897882;33592498;33951064;34171305;34509645;34531288;35051231;35251023;35580925;6139755;6770210;7678732;7779757;8051097;8185618;8697101;9034160;9463486;9501187;9566739;9733778;9736702;9852044", "class_list": "glycogene", "function": "Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3'-phosphoadenylyl sulfate (PAPS) as cosubstrate., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Genetic variations in the host dependency factors ALCAM and TPST2 impact HIV-1 disease progression., [RefSeq, PubMed]; Shear stress-dependent upregulation of TPST2 in human endothelium is mediated by a tyrosine kinase-dependent pathway Erratum:[Biochem Biophys Res Commun 2002 Jul 26;295(4):1033], [RefSeq, PubMed]; Sulfation of a FLAG tag mediated by SLC35B2 and TPST2 affects antibody recognition. Publication Status: Online-Only, [RefSeq, PubMed]; The first crystal structure of the human tyrosylprotein sulfotransferase isoform 2 complexed with a substrate peptide (C4P5Y3) derived from complement C4 and 3'-phosphoadenosine-5'-phosphate at 1.9 A resolution, is reported., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]., [RefSeq]; Using a quantum mechanics protocol of alanine scanning, the study identified unequivocally the role of the amino acids involved in the TPST-2 catalytic mechanism., [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 451, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B3KQA7;Q6FI98;Q9H0V4", "ec_number_list": "2.8.2.20", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0008476 protein-tyrosine sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005796 Golgi lumen;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0050427 3'-phosphoadenosine 5'-phosphosulfate metabolic process;GO:0006478 peptidyl-tyrosine sulfation", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "O60704-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86SZ2-1", "uniprot_id": "TPC6B_HUMAN", "mass": 17983.0, "length": 158, "protein_name": "Trafficking protein particle complex subunit 6B", "gene_name": "TRAPPC6B", "organism": "Human", "refseq_name": "trafficking protein particle complex subunit 6B isoform 1", "refseq_ac": "NP_001073005", "gene_names_uniprotkb": "TRAPPC6B", "gene_names_refseq": "NEDMEBA; TPC6; TRAPPC6B", "protein_names_uniprotkb": "Trafficking protein particle complex subunit 6B; TRAPP complex subunit 6B", "protein_names_refseq": "TRAPP complex subunit 6B; trafficking protein particle complex 6B; trafficking protein particle complex subunit 6B isoform 1", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (Disease Ontology:DOID:0060934)", "pathway": " (hsa:122553); (R-HSA-204005); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 264, "publication_id_list": "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;12684051;12944476;12972505;15037235;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16025134;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;1900457;19109890;19164740;19345684;19403694;19490898;19620288;19638414;19656848;19725050;19729655;19745841;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;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;23645161;23678941;23684622;23698585;23713133;23839779;23864707;24119662;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25202031;25341920;25343031;25406594;25472813;25492864;25576301;25586378;25619252;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26811146;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27569842;27920218;28063628;28397838;28467828;28626029;28904123;29242379;29393594;29557506;29632046;30410026;30833945;31844290;32157095;32357974;32387766;32938616;33592498;33968037;34171305;34509645;35051231;35580925;37713627;7688123;7911226;8144603;8221884;8408203;8522602;8620540;8663406;8863739;9020086;9020161;9030515;9094723;9136770;9150144;9177194;9307973;9323142;9590177;9647643;9733780", "class_list": "", "function": "Component of a transport protein particle (TRAPP) complex that may function in specific stages of inter-organelle traffic (PubMed:16025134, PubMed:16828797). Specifically involved in the early development of neural circuitry, likely by controlling the frequency and amplitude of intracellular calcium transients implicated in the regulation of neuron differentiation and survival (Probable)., [UniProtKB, PubMed, PubMed, PubMed]; TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions., [RefSeq, PubMed]; TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008]., [RefSeq]; This study identified a TRAPPC6B gene mutation associated to the RLS locus on chromosome 14., [RefSeq, PubMed]; This study provides clinical and functional evidence of the role of TRAPPC6B in brain development and function., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KPS2;Q5JPD6;Q86U35;Q86X35", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005801 cis-Golgi network;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0007399 nervous system development;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006901 vesicle coating;GO:0099022 vesicle tethering;GO:0048193 Golgi vesicle transport", "synthesized_glycan_count": 0, "hit_score": 26.5, "record_id": "Q86SZ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BTX3-1", "uniprot_id": "TM208_HUMAN", "mass": 19642.0, "length": 173, "protein_name": "Transmembrane protein 208", "gene_name": "TMEM208", "organism": "Human", "refseq_name": "transmembrane protein 208 isoform 2", "refseq_ac": "NP_001305146", "gene_names_uniprotkb": "TMEM208; HSPC171", "gene_names_refseq": "HSPC171; SND2; TMEM208; hSND2", "protein_names_uniprotkb": "Transmembrane protein 208", "protein_names_refseq": "SRP-independent targeting 2 homolog; transmembrane protein 208 isoform 2", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888)", "pathway": " (hsa:29100)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;23691174;25732826;26992070;28218747;28862756;28904123;29242379;29437277;29557506;29786170;31844290;32002553;32387766;32488085;32502341;32938616;32983136;33838053;34509645;34932366;35580925;38381787;38546073", "class_list": "", "function": "Exploring the Role and Prognostic Value of TMEM208 in Head and Neck Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; HSnd2/TMEM208 is an HIF-1alpha-targeted gene and contains a WH2 motif., [RefSeq, PubMed]; Human SND2 mediates ER targeting of GPI-anchored proteins with low hydrophobic GPI attachment signals., [RefSeq, PubMed]; Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability., [RefSeq, PubMed]; May function as a negative regulator of endoplasmic reticulum-stress induced autophagy., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Novel ER-located protein regulates both ER stress and autophagy Publication Status: Online-Only, [RefSeq, PubMed]; Snd2 protein represents an alternative targeting factor to the endoplasmic reticulum in human cells., [RefSeq, PubMed]; This gene encodes a highly conserved protein which is localized in the endoplasmic reticulum (ER). The protein is linked to autophagy and ER stress. Knockdown of this gene increased autophagy and triggered ER stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q05CT0;Q96D25;Q9NZZ7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0005773 vacuole", "go_biological_process": "GO:0006914 autophagy;GO:0006624 vacuolar protein processing", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9BTX3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "C9J7I0-1", "uniprot_id": "UMAD1_HUMAN", "mass": 15200.0, "length": 137, "protein_name": "UBAP1-MVB12-associated (UMA)-domain containing protein 1", "gene_name": "UMAD1", "organism": "Human", "refseq_name": "UBAP1-MVB12-associated (UMA)-domain containing protein 1 isoform a", "refseq_ac": "NP_001289277", "gene_names_uniprotkb": "UMAD1; RPA3-AS1; RPA3OS", "gene_names_refseq": "RPA3-AS1; RPA3OS; UMAD1", "protein_names_uniprotkb": "UBAP1-MVB12-associated (UMA)-domain containing protein 1; RPA3 antisense RNA 1; RPA3 opposite strand", "protein_names_refseq": "RPA3 antisense RNA 1; RPA3 opposite strand; UBAP1-MVB12-associated (UMA)-domain containing protein 1 isoform a; UBAP1-MVB12-associated (UMA)-domain containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:729852)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;25576301;26992070;29493099;30315122;30429286;31530632;31844290;32157095;32265295;32357974;32387766;32488085;32737115;32938616;32983136;33592498;33691108;33717175;33968037;33981976;34171305;34932366;35051231;35318648;35580925;36241641;37938771", "class_list": "", "function": "Association of the RPA3-UMAD1 locus with interstitial lung diseases complicated with rheumatoid arthritis in Japanese., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A4D104", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "C9J7I0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86YJ6-1", "uniprot_id": "THNS2_HUMAN", "mass": 54116.0, "length": 484, "protein_name": "Threonine synthase-like 2", "gene_name": "THNSL2", "organism": "Human", "refseq_name": "threonine synthase-like 2 isoform 2", "refseq_ac": "NP_001231605", "gene_names_uniprotkb": "THNSL2", "gene_names_refseq": "SOFAT; THNSL2; THS2; TSH2", "protein_names_uniprotkb": "Threonine synthase-like 2; 4.2.3.-; SOFAT; Secreted osteoclastogenic factor of activated T-cells; TSH2", "protein_names_refseq": "secreted osteoclastogenic factor of activated T cells; threonine synthase-like 2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55258)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;19877052;21299892;23481700;23619471;25645385;25916677;26480920;27035849;28904123;29489507;29632711;30315122;31848261;32157095;32849501;32938616;35051231;38253038", "class_list": "glycogene", "function": "A cytokine named SOFAT (secreted osteoclastogenic factor of activated T cells) can induce osteoblastic IL-6 production and osteoclast formation in the absence of osteoblasts or RANKL. It is insensitive to RANKL inhibitor osteoprotegerin., [RefSeq, PubMed]; Acts as a catabolic phospho-lyase on both gamma- and beta-phosphorylated substrates. Degrades O-phospho-threonine (PThr) to alpha-ketobutyrate, ammonia and phosphate (By similarity)., [UniProtKB]; May exacerbate inflammation and support osteoclast formation and bone destruction, [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]; Potent inducer of osteoblastic production of IL6. May act to exacerbate inflammation and/or bone turnover under inflammatory conditions., [UniProtKB, PubMed]; Secreted Osteoclastogenic Factor of Activated T Cells (SOFAT) Is Associated With Rheumatoid Arthritis and Joint Pain: Initial Evidences of a New Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; THNSL2 was found to have bimodal expression in human skeletal muscle tissue. Publication Status: Online-Only, [RefSeq, PubMed]; The present study demonstrated that SOFAT may play an important role in periodontitis., [RefSeq, PubMed]; These data support a putative role of SOFAT in the bone loss associated with chronic periodontal disease., [RefSeq, PubMed]; This gene encodes a threonine synthase-like protein. A similar enzyme in mouse can catalyze the degradation of O-phospho-homoserine to a-ketobutyrate, phosphate, and ammonia. This protein also has phospho-lyase activity on both gamma and beta phosphorylated substrates. In mouse an alternatively spliced form of this protein has been shown to act as a cytokine and can induce the production of the inflammatory cytokine IL6 in osteoblasts. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]., [RefSeq]; This study shows that SOFAT is a putative marker of osteoclasts in bone lesions, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 622, "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": "B3KTB1;B5MDX8;B7WPF8;D9ZZB8;Q6P2M7;Q6PI27;Q9NV54", "ec_number_list": "", "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0005125 cytokine activity;GO:0016829 lyase activity;GO:0016791 phosphatase activity;GO:0070905 serine binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q86YJ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NUQ7-1", "uniprot_id": "UFSP2_HUMAN", "mass": 53261.0, "length": 469, "protein_name": "Ufm1-specific protease 2", "gene_name": "UFSP2", "organism": "Human", "refseq_name": "ufm1-specific protease 2", "refseq_ac": "NP_060829", "gene_names_uniprotkb": "UFSP2; C4orf20", "gene_names_refseq": "BHD; C4orf20; DEE106; SEMDDR; UFSP2", "protein_names_uniprotkb": "Ufm1-specific protease 2; 3.4.22.-; UfSP2", "protein_names_refseq": "ufm1-specific protease 2", "tax_id": 9606, "disease": "early infantile epileptic encephalopathy (Disease Ontology:DOID:0050709); developmental and epileptic encephalopathy 106 (Disease Ontology:DOID:0070392); Beukes hip dysplasia (Disease Ontology:DOID:0111367); spondyloepimetaphyseal dysplasia, di rocco type (MONDO:MONDO:0060702)", "pathway": " (hsa:55325)", "pathway_count": 1, "publication_count": 82, "publication_id_list": "11237011;22424782;22544926;23481700;24714562;24715725;25219498;25418920;25576301;25732826;25880248;26154972;26375851;26428751;26728094;26992070;27351204;27846572;27862975;27920218;27926783;28218747;28228285;28649982;28832583;28834231;28892125;28904123;29242379;29393594;29437277;29493099;29557506;29632711;29786170;30315122;30379171;30410026;30429286;30524438;30783677;31092671;31154438;31595041;31844290;31848261;31937595;32157095;32160526;32357974;32387766;32502341;32755715;32897882;32938616;32983136;33141586;33298915;33473208;33514497;33592498;33633747;33691108;33936100;33968037;34211107;34509645;34561969;34932366;35051231;35394863;35561310;35580925;35926457;36010968;36284347;36543799;36893266;37214758;37795761;37938771;38383785", "class_list": "", "function": "Thiol-dependent isopeptidase that specifically cleaves UFM1, a ubiquitin-like modifier protein, from conjugated proteins, such as CD274/PD-L1, CYB5R3, DDRGK1, MRE11, RPL26/uL24, TRIP4 and RPL26/uL24 (PubMed:25219498, PubMed:27351204, PubMed:27926783, PubMed:30783677, PubMed:31595041, PubMed:32160526, PubMed:33473208, PubMed:35394863, PubMed:35926457, PubMed:36543799, PubMed:36893266, PubMed:37795761, PubMed:38383785). While it is also able to mediate the processing of UFM1 precursors, a prerequisite for conjugation reactions, UFSP2 mainly acts as a protein deUFMylase that mediates deconjugation of UFM1 from target proteins (PubMed:27926783). Mediates deUFMylation of RPL26/uL24, a critical step to release the UFM1 ribosome E3 ligase (UREL) complex during the recycling of 60S ribosome subunits from the endoplasmic reticulum (PubMed:38383785). Catalyzes deUFMylation of TRIP4, regulating intracellular nuclear receptors transactivation and thereby regulate cell proliferation and differentiation (PubMed:25219498)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple transcript variants. [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": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6IA77;Q96FS3", "ec_number_list": "", "go_molecular_function": "GO:0071567 deUFMylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0032790 ribosome disassembly;GO:0006508 proteolysis;GO:1903051 negative regulation of proteolysis involved in protein catabolic process;GO:0033146 regulation of intracellular estrogen receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q9NUQ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TCY9-1", "uniprot_id": "URGCP_HUMAN", "mass": 104987.0, "length": 931, "protein_name": "Up-regulator of cell proliferation", "gene_name": "URGCP", "organism": "Human", "refseq_name": "up-regulator of cell proliferation isoform 3", "refseq_ac": "NP_001071131", "gene_names_uniprotkb": "URGCP; KIAA1507; URG4", "gene_names_refseq": "URG4; URGCP", "protein_names_uniprotkb": "Up-regulator of cell proliferation; HBV X protein up-regulated gene 4 protein; HBxAg up-regulated gene 4 protein", "protein_names_refseq": "HBV X protein up-regulated gene 4 protein; HBxAg up-regulated gene 4 protein; up-regulated gene 4; up-regulator of cell proliferation isoform 3; up-regulator of cell proliferation", "tax_id": 9606, "disease": "", "pathway": " (hsa:55665)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "11237011;12082552;17217616;18972316;23186163;23481700;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28855257;28904123;29044221;29242379;29393594;29437277;29493099;29557506;29769354;29775749;29786170;30315122;30429286;30524438;30680688;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32897882;32938616;32983136;33034821;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34432785;34509645;34561969;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347", "class_list": "", "function": "All these results suggested that URGCP accelerates glioma growth through the NF-kappaB/c-myc/miR-16/Cyclin D1/E1 pathway, and both URGCP and miR-16 function as a novel cell cycle regulators in glioma and could be considered as potential targets for glioma therapy. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in cell cycle progression through the regulation of cyclin D1 expression. May participate in the development of hepatocellular carcinoma (HCC) by promoting hepatocellular growth and survival. May play an important role in development of gastric cancer., [UniProtKB, PubMed, PubMed]; Relationship between URG4/URGCP expression and clinicopathologic characteristics were evaluated and significant results were in various cancer types (review). Review article, [RefSeq, PubMed]; TNF-alpha Induces URG-4/URGCP Gene Expression in Hepatoma Cells through Starvation Dependent Manner., [RefSeq, PubMed]; URG4 is upregulated in the presence of hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development of hepatocellular carcinoma by promoting hepatocellular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM, Mar 2008]., [RefSeq]; URG4 may be a natural effector of HBxAg that contributes importantly to multistep hepatocarcinogenesis., [RefSeq, PubMed]; URG4 may play important roles in the development of osteosarcoma, and might be a useful molecular marker for predicting the prognosis of osteosarcoma., [RefSeq, PubMed]; URG4 overexpression in breast ductal carcinomas is significantly associated with good prognostic parameters., [RefSeq, PubMed]; URG4 plays an important role in the development of human gastric cancer by regulating the expression of cyclin D1., [RefSeq, PubMed]; [Epidermal Growth Factor Mediates Up-regulation of URGCP Oncogene in Human Hepatoma Cancer Cells]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "E9PFF6;Q658M4;Q68DH6;Q6MZZ5;Q8WV98;Q9NWR7;Q9P221", "ec_number_list": "", "go_molecular_function": "GO:0005525 GTP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q8TCY9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PJ69-1", "uniprot_id": "TRI65_HUMAN", "mass": 57353.0, "length": 517, "protein_name": "E3 ubiquitin-protein ligase TRIM65", "gene_name": "TRIM65", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM65 isoform 2", "refseq_ac": "NP_001243053", "gene_names_uniprotkb": "TRIM65", "gene_names_refseq": "4732463G12Rik; TRIM65", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM65; 2.3.2.27; Tripartite motif-containing protein 65", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM65 isoform 2; E3 ubiquitin-protein ligase TRIM65; tripartite motif-containing protein 65", "tax_id": 9606, "disease": "", "pathway": " (hsa:201292)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11237011;20112406;22223895;24715725;24778252;26992070;28084320;28218747;28594402;28832583;28904123;29437277;29493099;30315122;30410026;31160576;31310649;31332286;31844290;32157095;32387766;32488085;32502341;32938616;32983136;33141586;33373584;33392160;33592498;33633747;33968037;33981976;34019948;34087483;34171305;34405274;34509645;34512673;34932366;35051231;36010968;36215666;36241641;37608612;38218012;38301602;38932182;39005234", "class_list": "", "function": "E3 ubiquitin ligase that plays a role in several processes including innate immnity, autophagy or inflammation (PubMed:28594402, PubMed:34512673). Negatively regulates miRNAs by modulating the ubiquitination and stability of TNRC6A, a protein involved in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (PubMed:24778252). This ubiquitination results in the suppressed expression of miR-138-5p leading to increased autophagy (PubMed:31160576). Upon enteroviral infection, promotes 'Lys-63'-mediated ubiquitination activation of IFIH1/MDA5 leading to innate signaling cascade (PubMed:28594402). Mechanistically, selectively recognizes MDA5 filaments that occur on dsRNAs (PubMed:33373584). Plays also a role in limitation of inflammation through different mechanisms. First, promotes 'Lys-48'-mediated ubiquitination of VCAM1 leading to its degradation and limitation of LPS-induced lung inflammation (PubMed:31310649). In addition, negatively regulates inflammasome activation by promoting 'lys48'-linked ubiquitination of NLRP3 which is critical for the inhibition of NLRP3 inflammasome activation in resting macrophages (PubMed:34512673)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TRIM65 Suppresses oxLDL-induced Endothelial Inflammation by Interaction with VCAM-1 in Atherogenesis., [RefSeq, PubMed]; TRIM65 knockout inhibits the development of HCC by polarization tumor-associated macrophages towards M1 phenotype via JAK1/STAT1 signaling pathway., [RefSeq, PubMed]; TRIM65 promotes vascular smooth muscle cell phenotypic transformation by activating PI3K/Akt/mTOR signaling during atherogenesis., [RefSeq, PubMed]; TRIM65/NF2/YAP1 Signaling Coordinately Orchestrates Metabolic and Immune Advantages in Hepatocellular Carcinoma., [RefSeq, PubMed]; Tripartite Motif-Containing Protein 65 (TRIM65) Inhibits Hepatitis B Virus Transcription. 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": 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": "Q4G0F0;Q6DKJ6;Q9BRP6", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019904 protein domain specific binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0050728 negative regulation of inflammatory response;GO:0060337 type I interferon-mediated signaling pathway;GO:0010508 positive regulation of autophagy;GO:0032461 positive regulation of protein oligomerization;GO:0070936 protein K48-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q6PJ69-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61421-1", "uniprot_id": "VA0D1_HUMAN", "mass": 40329.0, "length": 351, "protein_name": "V-type proton ATPase subunit d 1", "gene_name": "ATP6V0D1", "organism": "Human", "refseq_name": "V-type proton ATPase subunit d 1", "refseq_ac": "NP_004682", "gene_names_uniprotkb": "ATP6V0D1; ATP6D; VPATPD", "gene_names_refseq": "ATP6DV; ATP6D; ATP6V0D1; P39; VATX; VMA6; VPATPD", "protein_names_uniprotkb": "V-type proton ATPase subunit d 1; 32 kDa accessory protein; V-ATPase 40 kDa accessory protein; V-ATPase AC39 subunit; V-ATPase subunit d 1; Vacuolar proton pump subunit d 1; p39", "protein_names_refseq": "32 kDa accessory protein; ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D; ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1; H(+)-transporting two-sector ATPase, subunit D; V-ATPase 40 KDa accessory protein; V-ATPase AC39 subunit; V-ATPase subunit d 1; V-ATPase, subunit D; V-type proton ATPase subunit d 1; vacuolar proton pump subunit d 1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); lipodystrophy (Disease Ontology:DOID:811)", "pathway": " (hsa:9114); (R-HSA-1222556); (R-HSA-381038); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712); (R-HSA-9857377)", "pathway_count": 8, "publication_count": 182, "publication_id_list": "10029572;10409623;10601334;10802645;10827079;11118322;11237011;11237855;11779865;11800564;11970843;12204115;12384298;12531241;15466936;15854902;15878852;16098514;16227996;16271887;16461360;16539657;16564538;16574064;16609065;16793765;17051221;17470430;17662945;17729390;18406720;18497260;18604198;18664523;18794901;19089323;19321446;20134026;20381137;21124855;21282569;21654843;21844891;22053050;22087256;22424782;22544926;22575674;22980980;23401004;23481700;23723238;24081491;24095279;24715725;25259925;25263562;25457612;25561175;25567906;25576301;25645385;25819761;25892735;26154972;26205815;26375851;26449471;26586190;26972053;26992070;27308486;27397612;27487210;27600516;27648300;27846572;28066558;28199306;28199315;28218747;28228285;2825632;28296633;28467828;2848506;28510447;28832583;28904123;29053970;29056322;29123071;29236692;29242379;29314611;29437277;29493099;29557506;29596046;29644770;29769354;29786170;2986535;30061680;30181260;30254208;30315122;30337524;30374053;30410026;30429286;3061785;30651352;31020640;31217245;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33065002;33091337;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34433824;34509645;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36640329;37938771;38665916;40914422;6141558;6309857;7499430;7590364;7929063;7980580;8250920;8300632;8537108;8666242;8682206;8995282;9037597;9450183;9465039;9473480;9609117;9793760", "class_list": "", "function": "ATP6V0D1 promotes alkaliptosis by blocking STAT3-mediated lysosomal pH homeostasis., [RefSeq, PubMed]; Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P12953;Q02547", "ec_number_list": "", "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0005769 early endosome;GO:0016020 membrane;GO:0043679 axon terminus;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0007034 vacuolar transport;GO:0006879 intracellular iron ion homeostasis;GO:0016241 regulation of macroautophagy;GO:0060271 cilium assembly;GO:0036295 cellular response to increased oxygen levels", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "P61421-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86XW9-1", "uniprot_id": "TXND6_HUMAN", "mass": 36856.0, "length": 330, "protein_name": "Thioredoxin domain-containing protein 6", "gene_name": "NME9", "organism": "Human", "refseq_name": "thioredoxin domain-containing protein 6 isoform b", "refseq_ac": "NP_835231", "gene_names_uniprotkb": "NME9; TXL2; TXNDC6", "gene_names_refseq": "NM23-H9; NME9; NXL2; TXL-2; TXL2; TXNDC6", "protein_names_uniprotkb": "Thioredoxin domain-containing protein 6; Thioredoxin-like protein 2; Txl-2", "protein_names_refseq": "NME gene family member 9; thioredoxin domain-containing protein 6 isoform b; thioredoxin domain-containing protein 6; thioredoxin-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:347736)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;12569107;18753468;23311631;25555669;28832583;31844290;33603952;39894887", "class_list": "", "function": "MMP-13 and thioredoxin-like 2 in lungs increased in patients with COPD. Thioredoxin-like 2 was primarily seen in the bronchial epithelium, [RefSeq, PubMed]; May be a regulator of microtubule physiology., [UniProtKB, PubMed]; Our results indicate that Txl-2b expression stimulates cancer cell proliferation, accelerates the cell cycle and contributes to apoptosis resistance in colon cancer and provides a potential therapeutic target for colon cancer treatment., [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]; Thioredoxin-like protein 2 is overexpressed in colon cancer and promotes cancer cell metastasis by interaction with ran., [RefSeq, PubMed]; This protein is characterized. It is a microtubule-binding thioredoxin expressed predominantly in the cilia of lung airway epithelium and spermatid manchette and axoneme, [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": "Q7Z4A8;Q8N1V7", "ec_number_list": "", "go_molecular_function": "GO:0004550 nucleoside diphosphate kinase activity", "go_cellular_component": "GO:0005930 axoneme;GO:0120293 dynein axonemal particle", "go_biological_process": "GO:0006183 GTP biosynthetic process;GO:0006228 UTP biosynthetic process;GO:0006241 CTP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q86XW9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14146-1", "uniprot_id": "URB2_HUMAN", "mass": 170544.0, "length": 1524, "protein_name": "Unhealthy ribosome biogenesis protein 2 homolog", "gene_name": "URB2", "organism": "Human", "refseq_name": "unhealthy ribosome biogenesis protein 2 homolog", "refseq_ac": "NP_001300950", "gene_names_uniprotkb": "URB2; KIAA0133", "gene_names_refseq": "KIAA0133; NET10; NPA2; URB2", "protein_names_uniprotkb": "Unhealthy ribosome biogenesis protein 2 homolog", "protein_names_refseq": "URB2 ribosome biogenesis 2 homolog; nucleolar preribosomal-associated protein 1; nucleolar preribosomal-associated protein 2; unhealthy ribosome biogenesis protein 2 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:9816)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;15635413;24714562;24715725;25505266;25576301;25880248;25892735;26154972;26811146;26992070;27846572;28904123;29493099;29557506;30410026;30429286;30484775;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34561969;34932366;35051231;35318648;35494241;35580925;36010968;36215666;36241641", "class_list": "", "function": "Essential for hematopietic stem cell development through the regulation of p53/TP53 pathway., [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": 3, "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": "Q5VYC9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005730 nucleolus;GO:0030496 midbody", "go_biological_process": "GO:1901796 regulation of signal transduction by p53 class mediator;GO:0042254 ribosome biogenesis", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q14146-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TED0-1", "uniprot_id": "UTP15_HUMAN", "mass": 58415.0, "length": 518, "protein_name": "U3 small nucleolar RNA-associated protein 15 homolog", "gene_name": "UTP15", "organism": "Human", "refseq_name": "U3 small nucleolar RNA-associated protein 15 homolog isoform 2", "refseq_ac": "NP_001271359", "gene_names_uniprotkb": "UTP15", "gene_names_refseq": "NET21; UTP15", "protein_names_uniprotkb": "U3 small nucleolar RNA-associated protein 15 homolog", "protein_names_refseq": "Src-associated protein SAW; U3 small nucleolar RNA-associated protein 15 homolog isoform 2; U3 small nucleolar RNA-associated protein 15 homolog; UTP15 SSU processome component; UTP15, U3 small nucleolar ribonucleoprotein, homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:84135); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 135, "publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;12429849;15199136;16037817;16043514;16381836;16738141;16782898;17189298;17353269;17412707;17636026;17699751;18065403;18438418;19033376;19106111;19332556;19463982;19564402;19801658;20038530;20047967;20056613;20068231;20112406;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22916032;23391857;23439679;23482395;2388630;24086612;24219289;24366607;24424021;24550520;24715725;25411247;25418920;25525153;25576301;25645385;25653167;25851604;25880248;25969445;26085946;26154972;26196125;26237581;26375851;26811146;26929215;26992070;27084949;27600516;27846572;27920218;28063628;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;30315122;30410026;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34516797;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36581221;9211966;9482744;9512526", "class_list": "", "function": "Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I (PubMed:17699751). 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, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B4DU75;B4DXK8;Q6IA60;Q96E08;Q9H9F8", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0001650 fibrillar center;GO:0032040 small-subunit processome", "go_biological_process": "GO:2000234 positive regulation of rRNA processing;GO:0006351 DNA-templated transcription;GO:0006364 rRNA processing;GO:0045943 positive regulation of transcription by RNA polymerase I;GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "Q8TED0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NVA1-1", "uniprot_id": "UQCC1_HUMAN", "mass": 34600.0, "length": 299, "protein_name": "Ubiquinol-cytochrome c reductase complex assembly factor 1", "gene_name": "UQCC1", "organism": "Human", "refseq_name": "ubiquinol-cytochrome c reductase complex assembly factor 1 isoform c", "refseq_ac": "NP_001171906", "gene_names_uniprotkb": "UQCC1; BZFB; C20orf44; UQCC", "gene_names_refseq": "BFZB; C20orf44; CBP3; UQCC1; UQCC", "protein_names_uniprotkb": "Ubiquinol-cytochrome c reductase complex assembly factor 1; Basic FGF-repressed Zic-binding protein; Ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog; bFGF-repressed Zic-binding protein; bFZb", "protein_names_refseq": "bFGF-repressed Zic-binding protein; basic FGF-repressed Zic-binding protein; cytochrome B protein synthesis 3 homolog; ubiquinol-cytochrome c reductase complex assembly factor 1 isoform c; ubiquinol-cytochrome c reductase complex chaperone CBP3 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:55245); (R-HSA-9865881)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "11118897;11237011;16959974;20072657;20444731;21278747;23168492;24385928;24714562;24715725;25008109;25605331;25645385;25848760;26154972;26992070;28218747;28228285;28380382;28510447;28673544;28834231;28844695;29243944;29786170;30379171;31844290;32157095;32929120;33717175;33912179;33968037;34357683;34969438;35051231;41018975", "class_list": "", "function": "Data show that a significant increase in plasma SDF-1alpha, and an immediate decrease in plasma VEGF and FGF levels after chemotherapy., [RefSeq, PubMed]; GPC3 was significantly more often and more strongly expressed in HCCs (72%) than in FLCs (17%)., [RefSeq, PubMed]; Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Involved in cytochrome b translation and/or stability., [UniProtKB, PubMed]; Single nucleotide polymorphism in UQCC is associated with developmental dysplasia of the hip. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]; This paper describes the cloning of the human UQCC gene., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B1AKV5;Q0VF37;Q5T348;Q5T351;Q5T353;Q86YU3;Q86YU4;Q96H66;Q9H438;Q9H452;Q9H9K8;Q9H9R5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0034551 mitochondrial respiratory chain complex III assembly", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9NVA1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96AQ2-1", "uniprot_id": "TM125_HUMAN", "mass": 22172.0, "length": 219, "protein_name": "Transmembrane protein 125", "gene_name": "TMEM125", "organism": "Human", "refseq_name": "transmembrane protein 125", "refseq_ac": "NP_001307173", "gene_names_uniprotkb": "TMEM125", "gene_names_refseq": "TMEM125", "protein_names_uniprotkb": "Transmembrane protein 125", "protein_names_refseq": "transmembrane protein 125", "tax_id": 9606, "disease": "", "pathway": " (hsa:128218)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;16959974;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": 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": "D3DPX1", "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": "Q96AQ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6N022-1", "uniprot_id": "TEN4_HUMAN", "mass": 307957.0, "length": 2769, "protein_name": "Teneurin-4", "gene_name": "TENM4", "organism": "Human", "refseq_name": "teneurin-4", "refseq_ac": "NP_001092286", "gene_names_uniprotkb": "TENM4; KIAA1302; ODZ4; TNM4", "gene_names_refseq": "Doc4; ETM5; ODZ4; TEN4; TENM4; TNM4; Ten-M4; ten-4", "protein_names_uniprotkb": "Teneurin-4; Protein Odd Oz/ten-m homolog 4; Ten-4; Ten-m4; Tenascin-M4; Teneurin transmembrane protein 4", "protein_names_refseq": "downstream of CHOP 4; odz, odd Oz/ten-m homolog 4; protein Odd Oz/ten-m homolog 4; tenascin-M4; teneurin-4", "tax_id": 9606, "disease": "essential tremor 5 (Disease Ontology:DOID:0111432)", "pathway": " (hsa:26011)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "10.1101/2023.09.13.557529;11237011;21926972;23481700;23611537;23991058;24190977;24715725;25576301;25892735;26188006;27569844;27846572;28158909;29557506;30315122;30379171;30429286;30459171;30573663;30976112;31844290;32157095;32357974;32387766;32488085;32938616;32983136;33592498;33968037;34087483;34171305;34185709;34509645;35051231;35580925;36010968;36284347;36689009;37074911;37217939;37938771;41350704", "class_list": "", "function": "An intronic variant in ODZ4 is being associated with bipolar disorder. Erratum:[Nat Genet. 2012 Sep;44(9):1072. Fullerton, Janice M [added]; Hyoun, Phil L [corrected to Lee, Phil H]; Meng, Fan Guo [corrected to Meng, Fan]] Publication Status: Online-Only, [RefSeq, PubMed]; Data indicate that expression of several predicted chimeric genes and genes with disrupted exon structure including ALK, NBAS, FHIT, PTPRD and ODZ4 in neuroblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Han family with essential tremor caused by the P421L variant of the TENM4 gene in China., [RefSeq, PubMed]; Involved in neural development, regulating the establishment of proper connectivity within the nervous system. Plays a role in the establishment of the anterior-posterior axis during gastrulation. Regulates the differentiation and cellular process formation of oligodendrocytes and myelination of small-diameter axons in the central nervous system (CNS) (PubMed:26188006). Promotes activation of focal adhesion kinase. May function as a cellular signal transducer (By similarity)., [UniProtKB, PubMed, UniProtKB]; Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. Mutant proteins mislocalize in oligodendrocyte precursor cells., [RefSeq, PubMed]; TENM4 is not a cause for essential tremor in a Canadian population., [RefSeq, PubMed]; The ODZ4 risk variant influences reward processing in the amygdala, [RefSeq, PubMed]; The protein encoded by this gene plays a role in establishing proper neuronal connectivity during development. Defects in this gene have been associated with hereditary essential tremor-5. [provided by RefSeq, Oct 2016]., [RefSeq]; This study demonstrated the TENM4 mutation associate with Essential tremor in Chinese., [RefSeq, 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": 9, "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": 9, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 139, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 1, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "A6ND26;Q7Z3C7;Q96MS6;Q9P2P4;Q9Y4S2", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0032289 central nervous system myelin formation;GO:0007165 signal transduction;GO:0048714 positive regulation of oligodendrocyte differentiation;GO:0031641 regulation of myelination;GO:0048666 neuron development", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q6N022-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92995-1", "uniprot_id": "UBP13_HUMAN", "mass": 97327.0, "length": 863, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 13", "gene_name": "USP13", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 13", "refseq_ac": "NP_003931", "gene_names_uniprotkb": "USP13; ISOT3", "gene_names_refseq": "ISOT3; IsoT-3; USP13", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 13; 3.4.19.12; Deubiquitinating enzyme 13; ISOT-3; Isopeptidase T-3; Ubiquitin thioesterase 13; Ubiquitin-specific-processing protease 13", "protein_names_refseq": "deubiquitinating enzyme 13; ubiquitin carboxyl-terminal hydrolase 13; ubiquitin specific peptidase 13 (isopeptidase T-3); ubiquitin specific protease 13 (isopeptidase T-3); ubiquitin thioesterase 13; ubiquitin thiolesterase 13; ubiquitin-specific-processing protease 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:8975); (R-HSA-5689880); (R-HSA-8948751)", "pathway_count": 3, "publication_count": 150, "publication_id_list": "10444327;10982817;11035045;11237011;11566882;11923872;12297295;12917689;12917691;14661020;15053880;15916963;16214042;16901786;16964248;17218260;17290220;17443180;17653289;17873522;17980597;17981138;18172164;18452278;18467330;18632802;18636086;18669648;19015242;19135894;19188362;19345329;19363159;19398555;19424180;19473982;19690332;19729658;19838211;19874889;19910467;20068231;20096447;20228808;20368735;20501646;21239494;21362556;21406692;21532586;21571647;21596315;21659512;21811243;21849505;21962518;22029577;22085928;22128162;22216260;22427670;23159851;23395819;23419514;23481700;23486064;23824326;23825189;23940278;24056413;24260525;24270891;24367090;24424410;24493797;24715725;24896179;25197364;25305019;25547115;25578727;25645385;25880248;26183061;26280536;26375851;26992070;27846572;27920218;28063628;28228285;28510447;28514659;28534493;28569838;28832583;28834231;28855257;28904123;29242379;29314611;29371260;29393594;29396516;29493099;29557506;29632046;30429286;30484775;30524438;31020640;31217245;31844290;32101753;32157095;32265295;32350084;32357974;32387766;32453420;32772043;32897882;32938616;32983136;33298915;33392160;33537174;33592498;33592542;33912179;33936100;33968037;33981976;34171305;34185709;34357683;35051231;35580925;36010968;36241641;36585612;37151889;37311811;37776917;37938771;38043062;38093367;38665916;7578059;9841226", "class_list": "", "function": "Deubiquitinase USP13 regulates glycolytic reprogramming and progression in osteosarcoma by stabilizing METTL3/m[6]A/ATG5 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Deubiquitinase that mediates deubiquitination of target proteins such as BECN1, MITF, SKP2 and USP10 and is involved in various processes such as autophagy, endoplasmic reticulum-associated degradation (ERAD), cell cycle progression or DNA damage response (PubMed:21571647, PubMed:32772043, PubMed:33592542). Component of a regulatory loop that controls autophagy and p53/TP53 levels: mediates deubiquitination of BECN1, a key regulator of autophagy, leading to stabilize the PIK3C3/VPS34-containing complexes. Alternatively, forms with NEDD4 a deubiquitination complex, which subsequently stabilizes VPS34 to promote autophagy (PubMed:32101753). Also deubiquitinates USP10, an essential regulator of p53/TP53 stability. In turn, PIK3C3/VPS34-containing complexes regulate USP13 stability, suggesting the existence of a regulatory system by which PIK3C3/VPS34-containing complexes regulate p53/TP53 protein levels via USP10 and USP13. Recruited by nuclear UFD1 and mediates deubiquitination of SKP2, thereby regulating endoplasmic reticulum-associated degradation (ERAD). Also regulates ERAD through the deubiquitination of UBL4A a component of the BAG6/BAT3 complex. Mediates stabilization of SIAH2 independently of deubiquitinase activity: binds ubiquitinated SIAH2 and acts by impairing SIAH2 autoubiquitination. Regulates the cell cycle progression by stabilizing cell cycle proteins such as SKP2 and AURKB (PubMed:32772043). In addition, plays an important role in maintaining genomic stability and in DNA replication checkpoint activation via regulation of RAP80 and TOPBP1 (PubMed:33592542). Deubiquitinates the multifunctional protein HMGB1 and subsequently drives its nucleocytoplasmic localization and its secretion (PubMed:36585612). Positively regulates type I and type II interferon signalings by deubiquitinating STAT1 but negatively regulates antiviral response by deubiquitinating STING1 (PubMed:23940278, PubMed:28534493)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes., [UniProtKB, UniProtKB]; Oncogenic KRAS effector USP13 promotes metastasis in non-small cell lung cancer through deubiquitinating beta-catenin., [RefSeq, PubMed]; Study identifies a new layer of Siah2 regulation mediated by USP13 binding to ubiquitinated Siah2 protein with a concomitant inhibitory effect on its activity under normoxia, [RefSeq, PubMed]; USP13 deubiquitinates and stabilizes cyclin D1 to promote gastric cancer cell cycle progression and cell proliferation., [RefSeq, PubMed]; USP13 deubiquitinates p62/SQSTM1 to induce autophagy and Nrf2 release for activating antioxidant response genes., [RefSeq, PubMed]; USP13 drives lung squamous cell carcinoma by switching lung club cell lineage plasticity. 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": 8, "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": "A8K2S3;B4DYF3;D3DNS2;Q96B25", "ec_number_list": "2.3.2.27;3.1.3.67;3.1.3.-;3.1.3.16;3.1.3.48;3.4.19.12", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0051087 protein-folding chaperone binding;GO:0031625 ubiquitin protein ligase binding;GO:1904288 BAT3 complex binding;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0006508 proteolysis;GO:0008283 cell population proliferation;GO:0010506 regulation of autophagy;GO:0016579 protein deubiquitination;GO:0070536 protein K63-linked deubiquitination", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q92995-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q502W6-1", "uniprot_id": "VWA3B_HUMAN", "mass": 145748.0, "length": 1294, "protein_name": "von Willebrand factor A domain-containing protein 3B", "gene_name": "VWA3B", "organism": "Human", "refseq_name": "von Willebrand factor A domain-containing protein 3B isoform 2", "refseq_ac": "NP_001332793", "gene_names_uniprotkb": "VWA3B", "gene_names_refseq": "SCAR22; VWA3B", "protein_names_uniprotkb": "von Willebrand factor A domain-containing protein 3B; VWA domain-containing protein 3B", "protein_names_refseq": "VWA domain-containing protein 3B; von Willebrand factor A domain-containing protein 3B isoform 2; von Willebrand factor A domain-containing protein 3B", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 22 (Disease Ontology:DOID:0111614)", "pathway": " (hsa:200403)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;18491316;26157035;26566883;29393594;29557506;30379171;31324691;32938616;33968037;35051231;36215666", "class_list": "", "function": "Mutated VWA3B was found to be likely associated with cerebellar degeneration with intellectual disability. Although a rare cause of cerebellar degeneration, these findings indicate a critical role for VWA3B in the apoptosis pathway in neuronal tissues., [RefSeq, PubMed]; This gene encodes an intracellular protein that contains a von Willebrand factor type A domain. Intracellular proteins with VWA domains are thought to function in transcription, DNA repair, ribosomal and membrane transport and the proteasome. Mutations in this gene are associated with Spinocerebellar ataxia, autosomal recessive 22. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 46, "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": "B9EK71;Q86T73;Q8N2D0;Q8N770;Q8NA79;Q8ND63;Q8ND65;Q8WW02", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q502W6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZ69-1", "uniprot_id": "TRM2A_HUMAN", "mass": 68726.0, "length": 625, "protein_name": "tRNA (uracil-5-)-methyltransferase homolog A", "gene_name": "TRMT2A", "organism": "Human", "refseq_name": "tRNA (uracil-5-)-methyltransferase homolog A isoform b", "refseq_ac": "NP_001244923", "gene_names_uniprotkb": "TRMT2A", "gene_names_refseq": "HTF9C; TRMT2A", "protein_names_uniprotkb": "tRNA (uracil-5-)-methyltransferase homolog A; 2.1.1.-; 2.1.1.35; mRNA (uracil-5-)-methyltransferase TRMT2A", "protein_names_refseq": "TRM2 tRNA methyltransferase 2 homolog A; hpaII tiny fragments locus 9c protein; mRNA (uracil-5-)-methyltransferase TRMT2A; tRNA (uracil-5-)-methyltransferase homolog A isoform b; tRNA (uracil-5-)-methyltransferase homolog A; tRNA methyltransferase 2 homolog A", "tax_id": 9606, "disease": "", "pathway": " (hsa:27037)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "11237011;16959974;18075473;18477386;18669648;19690332;20068231;20307320;23186163;23301498;23481700;25645385;26992070;27846572;27920218;28228285;28510447;28832583;28834231;28904123;29242379;29493099;29557506;29632046;30315122;30429286;30484775;31154438;31361898;31844290;31848261;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33298915;33592498;33717175;33799331;33968037;33981976;34019948;34123281;34171305;34556860;34932366;35051231;35251023;35580925;36010968;36215666;36241641;37395448", "class_list": "", "function": "Human TRMT2A methylates tRNA and contributes to translation fidelity., [RefSeq, PubMed]; M(5)U54 tRNA Hypomodification by Lack of TRMT2A Drives the Generation of tRNA-Derived Small RNAs. Publication Status: Online-Only, [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyl-uridine in tRNAs and some mRNAs (PubMed:31361898, PubMed:33799331, PubMed:34556860). Mainly catalyzes the methylation of uridine at position 54 (m5U54) in cytosolic tRNAs (PubMed:31361898, PubMed:33799331). Also able to mediate the formation of 5-methyl-uridine in some mRNAs (PubMed:34123281)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Single nucleotid polymorphisms of this gene may be associated with a deficit in sustained attention within schizophrenia, in a Taiwanese cohort. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TRMT2A staining showed a strong correlation with likelihood of recurrence at five years in 67 HER2+ breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is of unknown function. However, it is orthologous to the mouse Trmt2a gene and contains an RNA methyltransferase domain. Expression of this gene varies during the cell cycle, with aberrant expression being a possible biomarker in certain breast cancers. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DX25;Q32P57;Q96ME6;Q9H732", "ec_number_list": "2.1.1.-;2.1.1.35", "go_molecular_function": "GO:0003723 RNA binding;GO:0030697 tRNA (uracil(54)-C5)-methyltransferase activity, S-adenosyl methionine-dependent;GO:0008169 C-methyltransferase activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006397 mRNA processing;GO:0008033 tRNA processing;GO:0032259 methylation;GO:0006396 RNA processing", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q8IZ69-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P00750-1", "uniprot_id": "TPA_HUMAN", "mass": 62917.0, "length": 562, "protein_name": "Tissue-type plasminogen activator", "gene_name": "PLAT", "organism": "Human", "refseq_name": "tissue-type plasminogen activator isoform 1 preproprotein", "refseq_ac": "NP_000921", "gene_names_uniprotkb": "PLAT", "gene_names_refseq": "PLAT; T-PA; TPA", "protein_names_uniprotkb": "Tissue-type plasminogen activator; 3.4.21.68; t-PA; t-plasminogen activator; tPA", "protein_names_refseq": "alteplase; plasminogen/activator kringle; reteplase; t-plasminogen activator; tissue-type plasminogen activator isoform 1 preproprotein", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); acute promyelocytic leukemia (Disease Ontology:DOID:0060318); von Willebrand's disease 1 (Disease Ontology:DOID:0060573); osteonecrosis (Disease Ontology:DOID:10159); IgA vasculitis (Disease Ontology:DOID:11123); disseminated intravascular coagulation (Disease Ontology:DOID:11247); sciatic neuropathy (Disease Ontology:DOID:11446); diabetic angiopathy (Disease Ontology:DOID:11713); gestational diabetes (Disease Ontology:DOID:11714); factor VIII deficiency (Disease Ontology:DOID:12134); blood coagulation disease (Disease Ontology:DOID:1247); hemolytic-uremic syndrome (Disease Ontology:DOID:12554); status epilepticus (Disease Ontology:DOID:1824); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); severe acute respiratory syndrome (Disease Ontology:DOID:2945); antiphospholipid syndrome (Disease Ontology:DOID:2988); acute kidney failure (Disease Ontology:DOID:3021); Noonan syndrome (Disease Ontology:DOID:3490); middle cerebral artery infarction (Disease Ontology:DOID:3525); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); brain edema (Disease Ontology:DOID:4724); myocardial infarction (Disease Ontology:DOID:5844); leukopenia (Disease Ontology:DOID:615); peritonitis (Disease Ontology:DOID:8283); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetic neuropathy (Disease Ontology:DOID:9743); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5327); (R-HSA-186797); (R-HSA-75205)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10340997;10508235;10894090;11237011;11384978;12007600;12369853;12538485;1310033;1311092;134998;1368681;14759258;15053742;15207811;15615512;15767546;1602484;16331269;1639841;16436588;1645336;16474853;17367763;17604334;1762144;17666018;17943726;1823160;1829461;1846368;18559524;1900431;1901789;19564526;20813817;2107528;2124546;21251937;21376233;2156852;2166055;21925150;2226797;22933705;23090970;2318848;23193360;23483454;23583652;23584533;24190977;2440681;24900876;2496749;2503541;2513186;2514791;2521625;25328409;2544876;2558718;25597754;27862975;2824147;28435517;29093181;29137923;29263244;2935528;29408302;2962641;29741879;29964125;3009482;3011081;3023326;30389923;3090045;3090401;31085175;3133640;3161893;31844290;32157095;32938616;33968037;35580925;36284347;36501190;37074911;37545924;37574107;38665916;39294191;40930100;6089198;6337343;6433976;6448849;6572897;6682760;7199524;7524535;7582899;8462541;8613982;8687384;8900172;9305622;9334164;9414276;9739761;9886297", "class_list": "", "function": "Association of pro-fibrinolytic receptor AnnexinA2 with tissue plasminogen activator/Inhibitor-1 in pre-eclampsia., [RefSeq, PubMed]; Converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. During oocyte activation, plays a role in cortical granule reaction in the zona reaction, which contributes to the block to polyspermy (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Correlations between the Changing Levels of Tissue Plasminogen Activator and Adiposity Following Exercise-Induced Weight Loss. Publication Status: Online-Only, [RefSeq, PubMed]; Fibrinolytic and Non-fibrinolytic Roles of Tissue-type Plasminogen Activator in the Ischemic Brain. Review article, [RefSeq, PubMed]; This gene encodes tissue-type plasminogen activator, a secreted serine protease that converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. The encoded preproprotein is proteolytically processed by plasmin or trypsin to generate heavy and light chains. These chains associate via disulfide linkages to form the heterodimeric enzyme. This enzyme plays a role in cell migration and tissue remodeling. Increased enzymatic activity causes hyperfibrinolysis, which manifests as excessive bleeding, while decreased activity leads to hypofibrinolysis, which can result in thrombosis or embolism. Alternative splicing of this gene results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [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": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 34, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 111, "disease_count": 30, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K022;B2R8E8;Q15103;Q503B0;Q6PJA5;Q7Z7N2;Q86YK8;Q9BU99;Q9BZW1", "ec_number_list": "3.4.21.68", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0005102 signaling receptor binding;GO:0051219 phosphoprotein binding;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0009986 cell surface", "go_biological_process": "GO:0036211 protein modification process;GO:0006508 proteolysis;GO:0007596 blood coagulation;GO:0014909 smooth muscle cell migration;GO:0010757 negative regulation of plasminogen activation", "synthesized_glycan_count": 0, "hit_score": 23.7, "record_id": "P00750-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZN44-1", "uniprot_id": "UNC5A_HUMAN", "mass": 92932.0, "length": 842, "protein_name": "Netrin receptor UNC5A", "gene_name": "UNC5A", "organism": "Human", "refseq_name": "netrin receptor UNC5A precursor", "refseq_ac": "NP_588610", "gene_names_uniprotkb": "UNC5A; KIAA1976; UNC5H1", "gene_names_refseq": "UNC5A; UNC5H1", "protein_names_uniprotkb": "Netrin receptor UNC5A; Protein unc-5 homolog 1; Protein unc-5 homolog A", "protein_names_refseq": "netrin receptor UNC5A precursor; netrin receptor UNC5A; netrin receptor Unc5h1; protein unc-5 homolog 1; protein unc-5 homolog A; unc-5 homolog 1; unc5 (C.elegans homolog) a", "tax_id": 9606, "disease": "", "pathway": " (hsa:90249); (R-HSA-373752); (R-HSA-418886); (R-HSA-418889)", "pathway_count": 4, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11248093;12011067;12154370;12598906;12655055;12810718;15310786;15573119;15574733;16158190;16762451;17174565;19913121;24737586;25123307;25374360;25645385;28710382;28783179;28832583;29277614;29557506;29720215;32387766;35051231;35494241;9796814;9858595", "class_list": "", "function": "May represent tumor suppressor that inhibit tumor extension outside the region of netrin-1 availability by inducing apoptosis, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Receptor for netrin required for axon guidance. Functions in the netrin signaling pathway and promotes neurite outgrowth in response to NTN1. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand., [UniProtKB, UniProtKB]; Receptor for netrin required for axon guidance. Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding., [UniProtKB, UniProtKB]; Such data indicate that cooperation between the UPR and UNC5A depletion as previously observed by ourselves in HCC patients samples may foster liver cancer development and growth., [RefSeq, PubMed]; The results suggest that netrin-1 promotes glioma cell proliferation by activating NF-kappaB signaling via UNC5A. Publication Status: Online-Only, [RefSeq, PubMed]; These data suggest an important role for UNC5A, a candidate tumor suppressor, in predicting response to DNA damage induced by chemotherapeutic drug and regulating cell death in bladder cancer, [RefSeq, PubMed]; These studies reveal an unexpected role of the axon guidance receptor UNC5A in fine-tuning ERalpha and EGFR signaling and the luminal progenitor status of hormone-sensitive breast cancers. Furthermore, UNC5A knockdown cells provide an ideal model system to investigate metastasis of ERalpha(+) breast cancers Publication Status: Online-Only, [RefSeq, PubMed]; UNC5 orthologues define a new mechanism for both the positive (induction) and negative (suppression) regulation of apoptosis in cancer cells (review) Review article, [RefSeq, PubMed]; UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004]., [RefSeq]; UNC5A is capable of impeding autophagy and promoting HCV restriction through specific impact on virion infectivity, in a cell death-independent and DAPK-related manner., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 3, "predicted_s_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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RXE6;Q8TF26;Q96GP4", "ec_number_list": "", "go_molecular_function": "GO:0005042 netrin receptor activity", "go_cellular_component": "GO:0032589 neuron projection membrane;GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0032809 neuronal cell body membrane;GO:0016020 membrane", "go_biological_process": "GO:0031175 neuron projection development;GO:0006915 apoptotic process;GO:0038007 netrin-activated signaling pathway;GO:0033564 anterior/posterior axon guidance", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q6ZN44-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NB66-1", "uniprot_id": "UN13C_HUMAN", "mass": 250911.0, "length": 2214, "protein_name": "Protein unc-13 homolog C", "gene_name": "UNC13C", "organism": "Human", "refseq_name": "protein unc-13 homolog C isoform 1", "refseq_ac": "NP_001074003", "gene_names_uniprotkb": "UNC13C", "gene_names_refseq": "UNC13C", "protein_names_uniprotkb": "Protein unc-13 homolog C; Munc13-3", "protein_names_refseq": "Munc13-3; protein unc-13 homolog C isoform 1; protein unc-13 homolog C; unc-13-like 3", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:440279)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;18452278;19413330;22365152;23481700;24715725;25880248;26154972;26375851;27846572;27862975;28352266;28904123;29557506;30379171;31092671;31217245;31844290;32387766;32488085;32502341;33141586;33715625;35051231;35580925;36581221;37217939;37575271", "class_list": "", "function": "Circ-KIAA0907 inhibits the progression of oral squamous cell carcinoma by regulating the miR-96-5p/UNC13C axis. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. May be involved in the regulation of synaptic transmission at parallel fiber - Purkinje cell synapses (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Prognostic and Clinical Implications of UNC13C expression in Hepatocellular 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 41, "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": "Q0P613;Q8ND48;Q96NP3", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005543 phospholipid binding;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0019992 diacylglycerol binding", "go_cellular_component": "GO:0044305 calyx of Held;GO:0005886 plasma membrane;GO:0031594 neuromuscular junction;GO:0043195 terminal bouton;GO:0048786 presynaptic active zone", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0035249 synaptic transmission, glutamatergic;GO:0031914 negative regulation of synaptic plasticity;GO:0016082 synaptic vesicle priming;GO:0016081 synaptic vesicle docking", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8NB66-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPZ6-1", "uniprot_id": "THS7A_HUMAN", "mass": 185363.0, "length": 1657, "protein_name": "Thrombospondin type-1 domain-containing protein 7A", "gene_name": "THSD7A", "organism": "Human", "refseq_name": "thrombospondin type-1 domain-containing protein 7A precursor", "refseq_ac": "NP_056019", "gene_names_uniprotkb": "THSD7A; KIAA0960", "gene_names_refseq": "THSD7A", "protein_names_uniprotkb": "Thrombospondin type-1 domain-containing protein 7A", "protein_names_refseq": "thrombospondin type-1 domain-containing protein 7A precursor; thrombospondin type-1 domain-containing protein 7A; thrombospondin, type I, domain containing 7A", "tax_id": 9606, "disease": "", "pathway": " (hsa:221981); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 35, "publication_id_list": "10.1101/2023.09.13.557529;11067851;16464858;18452278;18488137;18720094;19796186;20020485;20414141;20808825;22194972;22588082;23889335;25394321;25544610;26992070;27214550;29314611;29555830;29557506;30520531;31844290;32387766;32935600;32983136;33141586;33249733;34040602;34509645;35051231;35580925;35670653;37074911;37157070;37217939", "class_list": "", "function": "Case Report: THSD7A-Positive Membranous Nephropathy Caused by Tislelizumab in a Lung Cancer Patient. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical characteristics of thrombospondin type-1 domain-containing 7A-associated membranous nephropathy., [RefSeq, PubMed]; Comprehensively characterizing cellular changes and the expression of THSD7A and PLA2R1 under multiple in vitro models of podocyte injury., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in actin cytoskeleton rearrangement., [UniProtKB, PubMed]; Renal expression of PLA2R, THSD7A, and IgG4 in patients with membranous nephropathy and correlation with clinical findings., [RefSeq, PubMed]; THSD7A is a membrane-associated N-glycoprotein with a soluble form., [RefSeq, PubMed]; The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]., [RefSeq]; The soluble form promotes endothelial cell migration and filopodia formation during sprouting angiogenesis via a FAK-dependent mechanism., [UniProtKB, PubMed]; Thrombospondin type I domain containing 7A (THSD7A) mediates endothelial cell migration and tube formation., [RefSeq, PubMed]; Variations may be important determinants of osteoporosis in Japanese women. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; [Clinical Significance of Thrombospondin Type 1 Domain-Containing 7A and Neural Epidermal Growth Factor-Like 1 Protein in M-Type Phospholipase A2 Receptor-Negative Membranous Nephropathy]., [RefSeq, PubMed]", "predicted_glycosites": 9, "predicted_n_glycosites": 9, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 114, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 24, "disease_count": 0, "glyco_site_count": 14, "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:0042995 cell projection", "go_biological_process": "GO:0001525 angiogenesis;GO:0030154 cell differentiation;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9UPZ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P33981-1", "uniprot_id": "TTK_HUMAN", "mass": 97072.0, "length": 857, "protein_name": "Dual specificity protein kinase TTK", "gene_name": "TTK", "organism": "Human", "refseq_name": "dual specificity protein kinase TTK isoform 2", "refseq_ac": "NP_001160163", "gene_names_uniprotkb": "TTK; MPS1L1; MPS1", "gene_names_refseq": "CT96; ESK; MPH1; MPS1L1; MPS1; PYT; TTK", "protein_names_uniprotkb": "Dual specificity protein kinase TTK; 2.7.12.1; PYT; Phosphotyrosine picked threonine-protein kinase", "protein_names_refseq": "cancer/testis antigen 96; dual specificity protein kinase TTK isoform 2; dual specificity protein kinase TTK; monopolar spindle 1 kinase; monopolar spindle 1-like 1; phosphotyrosine picked threonine kinase; phosphotyrosine picked threonine-protein kinase; threonine and tyrosine kinase", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); bipolar disorder (Disease Ontology:DOID:3312); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:7272)", "pathway_count": 1, "publication_count": 122, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11927556;1639825;17322306;17804818;17924679;18083840;18243099;18452278;18480048;18545697;18669648;18680479;18691976;18923149;19007248;19120698;19151762;19273613;19369195;19413330;1956325;19664994;19664995;20068231;20422024;21533207;21587233;21778823;22187426;22430208;23186163;23301498;23481700;24256217;24366607;24714562;24715725;24764296;25265012;25418920;25576301;25880248;26154972;26354417;26375851;26531827;26714015;26728094;26758079;26992070;27072896;27600516;27633003;27846572;27893789;27920218;28218747;28228285;28441529;28649982;28821799;28832583;28834231;28904123;29162720;29242379;29393594;29437277;29493099;29502948;29508533;29557506;29632046;29786170;30315122;30429286;30524438;30785839;31217245;31492838;31511308;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34509645;34767669;34846157;34932366;35051231;35318648;35850753;36010968;36241641;36284347;36581221;37815894;37894942;40136647;40307207;7678926", "class_list": "", "function": "CWH43 Is a Novel Tumor Suppressor Gene with Negative Regulation of TTK in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Hsp90 regulates the tumorigenic function of tyrosine protein kinase in osteosarcoma., [RefSeq, PubMed]; Human Mps1(TTK kinase) is essential for the establishment and/or maintenance of the spindle assembly checkpoint, but dispensable for centrosome duplication., [RefSeq, PubMed]; Involved in mitotic spindle assembly checkpoint signaling, a process that delays anaphase until chromosomes are bioriented on the spindle, and in the repair of incorrect mitotic kinetochore-spindle microtubule attachments (PubMed:18243099, PubMed:28441529, PubMed:29162720). Phosphorylates MAD1L1 to promote the mitotic spindle assembly checkpoint (PubMed:18243099, PubMed:29162720). Phosphorylates CDCA8/Borealin leading to enhanced AURKB activity at the kinetochore (PubMed:18243099). Phosphorylates SKA3 at 'Ser-34' leading to dissociation of the SKA complex from microtubules and destabilization of microtubule-kinetochore attachments (PubMed:28441529). Phosphorylates KNL1, KNTC1 and autophosphorylates (PubMed:28441529). Phosphorylates MCRS1 which enhances recruitment of KIF2A to the minus end of spindle microtubules and promotes chromosome alignment (PubMed:30785839)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; TTK Protein Kinase promotes temozolomide resistance through inducing autophagy in glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; TTK is a potential regulator of tumor progression correlated with dedifferentiation and immune cell infiltration in papillary thyroid cancer., [RefSeq, PubMed]; TTK predicts triple positive breast cancer prognosis and regulates tumor proliferation and invasion., [RefSeq, PubMed]; This gene encodes a dual specificity protein kinase with the ability to phosphorylate tyrosine, serine and threonine. Associated with cell proliferation, this protein is essential for chromosome alignment at the centromere during mitosis and is required for centrosome duplication. It has been found to be a critical mitotic checkpoint protein for accurate segregation of chromosomes during mitosis. Tumorigenesis may occur when this protein fails to degrade and produces excess centrosomes resulting in aberrant mitotic spindles. Alternative splicing results in multiple transcript variants. [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": 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": 38, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K8U5;B2RDW2;E1P543;Q15272;Q5TCS0;Q9BW51;Q9NTM0", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.10.1;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.32;2.7.1.82;2.7.10.4;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0004712 protein serine/threonine/tyrosine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005819 spindle;GO:0016020 membrane;GO:0000776 kinetochore", "go_biological_process": "GO:0033316 meiotic spindle assembly checkpoint signaling;GO:0007059 chromosome segregation;GO:0008284 positive regulation of cell population proliferation;GO:0007094 mitotic spindle assembly checkpoint signaling;GO:0007051 spindle organization", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "P33981-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0PJW6-1", "uniprot_id": "TM223_HUMAN", "mass": 22049.0, "length": 202, "protein_name": "Transmembrane protein 223", "gene_name": "TMEM223", "organism": "Human", "refseq_name": "transmembrane protein 223", "refseq_ac": "NP_001073970", "gene_names_uniprotkb": "TMEM223", "gene_names_refseq": "Mrx15; TMEM223", "protein_names_uniprotkb": "Transmembrane protein 223", "protein_names_refseq": "transmembrane protein 223", "tax_id": 9606, "disease": "", "pathway": " (hsa:79064); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "11237011;19503089;20877624;22342701;23125284;23260140;23345593;23481700;23746447;24403053;25645385;25926683;25959673;26321642;26992070;27693358;27846572;27920218;28082314;28199844;28330871;28514659;28832583;28834231;29154948;29242379;29393594;29493099;29557506;30429286;30779550;31222486;31536960;31844290;31848261;31937595;31998317;32157095;32161166;32317297;32350084;32375044;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33936100;33968037;34405274;34561969;34932366;34969438;35051231;35750769;36215666;37938771;9843204", "class_list": "", "function": "Defining the interactome of the human mitochondrial ribosome identifies SMIM4 and TMEM223 as respiratory chain assembly factors. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial ribosome-associated protein involved in the first steps of cytochrome c oxidase complex (complex IV) biogenesis (PubMed:34969438). Stimulates the translation of MT-CO1 mRNA and is a constituent of early MT-CO1 assembly intermediates (PubMed:34969438)., [UniProtKB, 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": 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": "Q504S0;Q86YD4;Q8WUC5;Q96HG0", "ec_number_list": "", "go_molecular_function": "GO:0097177 mitochondrial ribosome binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "A0PJW6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYU2-1", "uniprot_id": "UGGG1_HUMAN", "mass": 177190.0, "length": 1555, "protein_name": "UDP-glucose:glycoprotein glucosyltransferase 1", "gene_name": "UGGT1", "organism": "Human", "refseq_name": "UDP-glucose:glycoprotein glucosyltransferase 1 precursor", "refseq_ac": "NP_064505", "gene_names_uniprotkb": "UGGT1; GT; UGCGL1; UGGT; UGT1; UGTR", "gene_names_refseq": "CDG2CC; HUGT1; UGCGL1; UGGT1; UGT1", "protein_names_uniprotkb": "UDP-glucose:glycoprotein glucosyltransferase 1; 2.4.1.-; UDP--Glc:glycoprotein glucosyltransferase; UDP-glucose ceramide glucosyltransferase-like 1; UGT1; hUGT1", "protein_names_refseq": "UDP--Glc:glycoprotein glucosyltransferase; UDP-glucose ceramide glucosyltransferase-like 1; UDP-glucose:glycoprotein glucosyltransferase 1 precursor", "tax_id": 9606, "disease": "congenital disorder of glycosylation, type IIcc (MONDO:MONDO:0980705)", "pathway": " (hsa:56886); (R-HSA-901032)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10409699;10694380;11237011;12682060;12913004;15713668;16431915;17287340;18003979;18264092;18417469;18426978;19084021;20068231;21406692;23232094;23349634;23481700;23584533;24190977;24415556;24715725;25092655;25418920;25576301;25645385;25813380;25880248;26768311;26811146;26992070;27090790;27600516;27846572;27862975;28218747;28228285;28467828;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29557506;29741879;29769354;29786170;30059200;30315122;30397120;30410026;30429286;30484775;30573663;30779550;30833945;31020640;31092671;31154438;31217245;31611695;31844290;31848261;32119511;32157095;32161166;32350084;32357974;32502341;32938616;32983136;33298915;33320095;33592498;33633747;33691108;33909026;33912179;33968037;33981976;34019948;34171305;34357683;34725712;34932366;35008409;35051231;35138101;35154160;35251023;35580925;36010968;36241641;36284347;37074911;37345806;38272446;38665916;40267907;40914422", "class_list": "glycogene;glycosyltransferase", "function": "Polypeptide N-acetylgalactosaminyltransferase 18 retains in endoplasmic reticulum depending on its luminal regions interacting with ER resident UGGT1, PLOD3 and LPCAT1., [RefSeq, PubMed]; Quantitative glycoproteomics reveals cellular substrate selectivity of the ER protein quality control sensors UGGT1 and UGGT2. Publication Status: Online-Only, [RefSeq, PubMed]; Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells., [RefSeq, PubMed]; The ER folding sensor UGGT1 acts on TAPBPR-chaperoned peptide-free MHC I. Publication Status: Online-Only, [RefSeq, PubMed]; The amino-terminal 80% of HUGT1 is required for activation of the catalytic domain, [RefSeq, PubMed]; The substrate binding specificity, [RefSeq, PubMed]; UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, 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": 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": 2, "reported_phosphosites": 4, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 1736, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 30, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q53QP2;Q53SL3;Q8IW30;Q9H8I4", "ec_number_list": "2.4.1.-", "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0003980 UDP-glucose:glycoprotein glucosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0070062 extracellular exosome;GO:0044322 endoplasmic reticulum quality control compartment;GO:0005793 endoplasmic reticulum-Golgi intermediate compartment", "go_biological_process": "GO:0009101 glycoprotein biosynthetic process;GO:1904380 endoplasmic reticulum mannose trimming;GO:0051084 'de novo' post-translational protein folding", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "Q9NYU2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P50607-1", "uniprot_id": "TUB_HUMAN", "mass": 55651.0, "length": 506, "protein_name": "Tubby protein homolog", "gene_name": "TUB", "organism": "Human", "refseq_name": "tubby protein homolog isoform a", "refseq_ac": "NP_003311", "gene_names_uniprotkb": "TUB", "gene_names_refseq": "RDOB; TUB; rd5", "protein_names_uniprotkb": "Tubby protein homolog", "protein_names_refseq": "tubby bipartite transcription factor; tubby homologue; tubby protein homolog isoform a; tubby protein homolog", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970); retinal dystrophy and obesity (MONDO:MONDO:0014522)", "pathway": " (hsa:7275)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10591637;11237011;19837063;24375934;29557506;30379171;32938616;32956375;33577845;33983957;34171305;35051231;36215666;36241641;36498982;36650547;8612280;9096357", "class_list": "", "function": "A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family. Publication Status: Online-Only, [RefSeq, PubMed]; Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium. Publication Status: Online-Only, [RefSeq, PubMed]; Candidate variants in TUB are associated with familial tremor. Publication Status: Online-Only, [RefSeq, PubMed]; Common genetic variants associated with obesity in an African-American and Hispanic/Latino population. Publication Status: Online-Only, [RefSeq, PubMed]; Crystal structure of the core domain of the mouse Tubby protein., [RefSeq, PubMed]; Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages., [UniProtKB, PubMed]; Lnc-OIP5-AS1 exacerbates aorta wall injury during the development of aortic dissection through upregulating TUB via sponging miR-143-3p., [RefSeq, PubMed]; This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DQU4;O00293;Q6B007", "ec_number_list": "", "go_molecular_function": "GO:0001664 G protein-coupled receptor binding;GO:0044877 protein-containing complex binding;GO:0120160 intraciliary transport particle A binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006909 phagocytosis;GO:0050766 positive regulation of phagocytosis;GO:0042073 intraciliary transport;GO:0061512 protein localization to cilium", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "P50607-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H8W5-1", "uniprot_id": "TRI45_HUMAN", "mass": 64359.0, "length": 580, "protein_name": "E3 ubiquitin-protein ligase TRIM45", "gene_name": "TRIM45", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM45 isoform 2", "refseq_ac": "NP_001139107", "gene_names_uniprotkb": "TRIM45; RNF99", "gene_names_refseq": "RNF99; TRIM45", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM45; 2.3.2.27; RING finger protein 99", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM45 isoform 2; E3 ubiquitin-protein ligase TRIM45; ring finger protein 99", "tax_id": 9606, "disease": "", "pathway": " (hsa:80263); (R-HSA-877300)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10067896;10986460;11237011;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15351693;15388922;15530433;16237089;16467876;17125875;18362138;18452278;18591661;20049711;20130243;20304997;20363976;22634006;23061660;24417533;24681954;28542145;28832583;29557506;32387766;32938616;33239784;33592498;33968037;35051231;36681779;38037161;38755308;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "E3 ubiquitin-protein ligase that plays a role in the regulation of inflammatory response (PubMed:36681779). Mechanistically, mediates the 'Lys-48'-linked polyubiquitination of TAB2, a regulatory protein of the kinase TAK1, leading to its degradation via the proteasomal pathway and inhibition of the TLR-mediated inflammatory immune response (PubMed:36681779). May act as a transcriptional repressor in mitogen-activated protein kinase signaling pathway., [UniProtKB, PubMed, PubMed]; E3 ubiquitin-protein ligase that plays a role in the regulation of inflammatory response. Mechanistically, mediates the 'Lys-48'-linked polyubiquitination of TAB2, a regulatory protein of the kinase TAK1, leading to its degradation via the proteasomal pathway and inhibition of the TLR-mediated inflammatory immune response. May act as a transcriptional repressor in mitogen-activated protein kinase signaling pathway., [UniProtKB, UniProtKB]; TRIM45 aggravates microglia pyroptosis via Atg5/NLRP3 axis in septic encephalopathy. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM45 facilitates NASH-progressed HCC by promoting fatty acid synthesis via catalyzing FABP5 ubiquitylation., [RefSeq, PubMed]; TRIM45 may act as a new transcriptional repressor in mitogen-activated protein kinase signaling pathway, [RefSeq, PubMed]; The TRIM-FLMN protein TRIM45 directly interacts with RACK1 and negatively regulates PKC-mediated signaling pathway., [RefSeq, PubMed]; These findings suggest that TRIM45 acts as a repressor for the NF-kappaB signal and regulates cell growth., [RefSeq, PubMed]; These findings suggest that TRIM45 is a novel tumor suppressor that stabilizes and activates p53 in glioma. 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": 2, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53GN0;Q5T2K4;Q5T2K5;Q8IYV6", "ec_number_list": "2.3.2.27;2.7.7.84;1.8.4.-;1.8.-.-;2.3.2.-;3.6.1.-;3.6.5.-;2.7.11.1;2.3.1.-;6.3.2.n3", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0050728 negative regulation of inflammatory response;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0070936 protein K48-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9H8W5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q59H18-2", "uniprot_id": "TNI3K_HUMAN", "mass": 92851.0, "length": 835, "protein_name": "Serine/threonine-protein kinase TNNI3K", "gene_name": "TNNI3K", "organism": "Human", "refseq_name": "serine/threonine-protein kinase TNNI3K", "refseq_ac": "NP_057062", "gene_names_uniprotkb": "TNNI3K; CARK", "gene_names_refseq": "CARK; CCDD; TNNI3K", "protein_names_uniprotkb": "Serine/threonine-protein kinase TNNI3K; 2.7.11.1; Cardiac ankyrin repeat kinase; Cardiac troponin I-interacting kinase; TNNI3-interacting kinase", "protein_names_refseq": "cardiac ankyrin repeat kinase; cardiac troponin I-interacting kinase; serine/threonine-protein kinase TNNI3K", "tax_id": 9606, "disease": "cardiac conduction disease with or without dilated cardiomyopathy 1 (MONDO:MONDO:0700388)", "pathway": " (hsa:100526835); (hsa:51086)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "12721663;16959974;17344846;17660584;18205602;18552163;24925317;25791106;25892735;29769354;30010057;32357974;32529721;32897882;33664309;33912179;34440456;35051231;37199186;38424693", "class_list": "", "function": "A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family. Publication Status: Online-Only, [RefSeq, PubMed]; A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes. Publication Status: Online-Only, [RefSeq, PubMed]; Cloning of TNNI3K which interacts specifically with cardiac troponin I; data suggest that TNNI3K is a cardiac-specific kinase and plays important roles in the cardiac system, [RefSeq, PubMed]; Coexpression of AOP-1 inhibited TNNI3K kinase activity, [RefSeq, PubMed]; Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease., [RefSeq, PubMed]; May play a role in cardiac physiology., [UniProtKB, PubMed]; Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia., [RefSeq, PubMed]; TNNI3K exhibits dual-specific kinase activity and forms dimers or oligomers that may be necessary for its activation, [RefSeq, PubMed]; TNNI3K promotes cardiomyogenesis, enhances cardiac performance, and protects the myocardium from ischemic injury by suppressing p38/JNK-mediated apoptosis. Erratum:[Am J Physiol Heart Circ Physiol. 2008 Oct;295(4):H815], [RefSeq, PubMed]; This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 13, "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": "Q17RN0;Q49AR1;Q6MZS9;Q9Y2V6", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0086069 bundle of His cell to Purkinje myocyte communication;GO:0006468 protein phosphorylation;GO:1903779 regulation of cardiac conduction;GO:0055117 regulation of cardiac muscle contraction;GO:0002027 regulation of heart rate", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q59H18-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZJ1-1", "uniprot_id": "UNC5B_HUMAN", "mass": 103638.0, "length": 945, "protein_name": "Netrin receptor UNC5B", "gene_name": "UNC5B", "organism": "Human", "refseq_name": "netrin receptor UNC5B isoform 2 precursor", "refseq_ac": "NP_001231818", "gene_names_uniprotkb": "UNC5B; P53RDL1; PRO4326; UNC5H2", "gene_names_refseq": "UNC5B; UNC5H2; p53RDL1", "protein_names_uniprotkb": "Netrin receptor UNC5B; Protein unc-5 homolog 2; Protein unc-5 homolog B; p53-regulated receptor for death and life protein 1; p53RDL1", "protein_names_refseq": "netrin receptor UNC5B isoform 2 precursor; netrin receptor UNC5B; p53-regulated receptor for death and life protein 1; protein unc-5 homolog 2; protein unc-5 homolog B; transmembrane receptor Unc5H2; unc-5 homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:219699); (R-HSA-373752); (R-HSA-418886); (R-HSA-418889)", "pathway_count": 4, "publication_count": 47, "publication_id_list": "10.1101/2023.09.13.557529;11248093;12011067;12154370;12359238;12598906;12655055;12810718;12975309;15310786;15573119;15574733;15729359;16158190;16762451;17174565;18452278;18582460;22706990;23090970;23481700;24190977;24715725;25123307;25374360;25576301;26235030;29557506;30192525;30429286;30459171;31844290;31848261;32157095;32350084;32929029;32938616;33592498;34239689;34381052;34470826;35051231;35251023;35974411;38156865;9796814;9858595", "class_list": "", "function": "A ligand-insensitive UNC5B splicing isoform regulates angiogenesis by promoting apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Delta40p53 isoform up-regulates netrin-1/UNC5B expression and potentiates netrin-1 pro-oncogenic activity., [RefSeq, PubMed]; Hepatic Expression of NTN4 and Its Receptors in Patients with Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; May represent tumor suppressor that inhibit tumor extension outside the region of netrin-1 availability by inducing apoptosis, [RefSeq, PubMed]; Modulation of G(ialpha(2)) signaling by the axonal guidance of this protein, [RefSeq, PubMed]; Netrin-1 induces the anti-apoptotic and pro-survival effects of B-ALL cells through the Unc5b-MAPK axis. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for netrin required for axon guidance. Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding. Axon repulsion in growth cones may be caused by its association with DCC that may trigger signaling for repulsion (By similarity). Functions as a netrin receptor that negatively regulates vascular branching during angiogenesis. Mediates retraction of tip cell filopodia on endothelial growth cones in response to netrin (By similarity). It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand (PubMed:12598906). Mediates apoptosis by activating DAPK1. In the absence of NTN1, activates DAPK1 by reducing its autoinhibitory phosphorylation at Ser-308 thereby increasing its catalytic activity (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; This gene encodes a member of the netrin family of receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a group of proteins called dependence receptors (DpRs) which are involved in pro- and anti-apoptotic processes. Many DpRs are involved in embryogenesis and in cancer progression. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; UNC5B Promotes Vascular Endothelial Cell Senescence via the ROS-Mediated P53 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": 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": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5T3R9;Q5T3S0;Q86SN3;Q8N1Y2;Q9H9F3", "ec_number_list": "", "go_molecular_function": "GO:0005042 netrin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0001525 angiogenesis;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0006915 apoptotic process;GO:0043524 negative regulation of neuron apoptotic process;GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q8IZJ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXT4-1", "uniprot_id": "TDRD1_HUMAN", "mass": 132024.0, "length": 1180, "protein_name": "Tudor domain-containing protein 1", "gene_name": "TDRD1", "organism": "Human", "refseq_name": "tudor domain-containing protein 1 isoform 1", "refseq_ac": "NP_942090", "gene_names_uniprotkb": "TDRD1", "gene_names_refseq": "CT41.1; TDRD1", "protein_names_uniprotkb": "Tudor domain-containing protein 1; CT41.1; Cancer/testis antigen 41.1", "protein_names_refseq": "cancer/testis antigen 41.1; testicular tissue protein Li 193; tudor domain-containing protein 1 isoform 1; tudor domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56165); (R-HSA-5601884)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11237011;11279525;12704671;18922463;21465557;22233380;23056369;23319146;23826142;23980886;24656595;24715725;26375851;27272765;28411811;29331515;29557506;30379171;32036563;32059713;32157095;32681273;34087483;35051231;35580925;37041411;37217939;38740147", "class_list": "", "function": "Here we evaluate gene and protein expression levels of four key TDRDs (TDRD1, TDRD5, TDRD9 and TDRD12) in testicular biopsy samples obtained from men with obstructive azoospermia (OA, n = 29), as controls, and various types of non-obstructive azoospermia containing hypospermatogenesis (HP, 28), maturation arrest (MA, n = 30), and Sertoli cell-only syndrome (SCOS, n = 32) as cases. Publication Status: Online-Only, [RefSeq, PubMed]; Mutational alterations of TDRD 1, 4 and 9 genes in colorectal cancers., [RefSeq, PubMed]; Plays a central role during spermatogenesis by participating in the repression transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Required for the localization of Piwi proteins to the meiotic nuage. Involved in the piRNA metabolic process by ensuring the entry of correct transcripts into the normal piRNA pool and limiting the entry of cellular transcripts into the piRNA pathway. May act by allowing the recruitment of piRNA biogenesis or loading factors that ensure the correct entry of transcripts and piRNAs into Piwi proteins (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Prospective assessment of two-gene urinary test with multiparametric magnetic resonance imaging of the prostate for men undergoing primary prostate biopsy., [RefSeq, PubMed]; TDRD1 is the first identified upregulated direct ERG target gene that is strongly associated with ERG overexpression in primary prostate cancer, [RefSeq, PubMed]; TDRD1 protein is expressed in the majority of human prostate tumors, but not in normal prostate tissue., [RefSeq, PubMed]; The cancer testis antigen TDRD1 regulates prostate cancer proliferation by associating with the snRNP biogenesis machinery., [RefSeq, PubMed]; This gene encodes a protein containing a tudor domain that is thought to function in the suppression of transposable elements during spermatogenesis. The related protein in mouse forms a complex with piRNAs and Piwi proteins to promote methylation and silencing of target sequences. This gene was observed to be upregulated by ETS transcription factor ERG in prostate tumors. [provided by RefSeq, Sep 2018]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "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": "A6NEN3;A6NMN2;B3KVI4;B4E2L5;D3DRC2;Q4G0Y8;Q6P518;Q9H7B3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0045202 synapse;GO:1990904 ribonucleoprotein complex;GO:0071546 pi-body;GO:0033391 chromatoid body", "go_biological_process": "GO:0030719 P granule organization;GO:0007283 spermatogenesis;GO:0007281 germ cell development;GO:0034587 piRNA processing;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9BXT4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99594-1", "uniprot_id": "TEAD3_HUMAN", "mass": 48676.0, "length": 435, "protein_name": "Transcriptional enhancer factor TEF-5", "gene_name": "TEAD3", "organism": "Human", "refseq_name": "transcriptional enhancer factor TEF-5 isoform 1", "refseq_ac": "NP_003205", "gene_names_uniprotkb": "TEAD3; TEAD5; TEF5", "gene_names_refseq": "DTEF-1; ETFR-1; TEAD-3; TEAD3; TEAD5; TEF-5; TEF5", "protein_names_uniprotkb": "Transcriptional enhancer factor TEF-5; DTEF-1; TEA domain family member 3; TEAD-3", "protein_names_refseq": "TEA domain family member 3; TEA domain family member 5; transcriptional enhancer factor 5; transcriptional enhancer factor TEF-5 (DTEF-1); transcriptional enhancer factor TEF-5 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7005); (R-HSA-2032785); (R-HSA-8951671); (R-HSA-9909649)", "pathway_count": 4, "publication_count": 43, "publication_id_list": "10228168;10379887;10587520;11237011;16332960;18579750;19088198;19324876;19324877;19664995;20068231;20110263;23186163;25576301;26364597;29237092;29393594;29557506;30059200;30385408;30779550;31492838;31541452;31848261;32142794;32161166;32183950;32860047;32938616;33968037;34087483;35051231;35254053;35289036;35513511;36907139;39531497;39534244;39894887;40596516;9148898;9584153;9651244", "class_list": "", "function": "TEAD1 and TEAD3 Play Redundant Roles in the Regulation of Human Epidermal Proliferation., [RefSeq, PubMed]; TEAD3 inhibits the proliferation and metastasis of prostate cancer via suppressing ADRBK2., [RefSeq, PubMed]; The paper described that the translation initiation codon for the TEF-5 protein was a non-AUG (ATA) codon., [RefSeq, PubMed]; The paper described that the translation initiation codon for the TEF-5 protein was a non-AUG (AUA) codon., [RefSeq, PubMed]; This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is predominantly expressed in the placenta and is involved in the transactivation of the chorionic somatomammotropin-B gene enhancer. Translation of this protein is initiated at a non-AUG (AUA) start codon. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; YAP/TEAD3 signal mediates cardiac lineage commitment of human-induced pluripotent stem 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": 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": 6, "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": "O95910;Q5BJG7;Q8N6Y4", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin;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:0035329 hippo signaling;GO:0007565 female pregnancy", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q99594-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NEH6-1", "uniprot_id": "TM247_HUMAN", "mass": 25168.0, "length": 219, "protein_name": "Transmembrane protein 247", "gene_name": "TMEM247", "organism": "Human", "refseq_name": "transmembrane protein 247", "refseq_ac": "NP_001411113", "gene_names_uniprotkb": "TMEM247", "gene_names_refseq": "TMEM247", "protein_names_uniprotkb": "Transmembrane protein 247", "protein_names_refseq": "transmembrane protein 247; transmembrane protein ENSP00000343375", "tax_id": 9606, "disease": "", "pathway": " (hsa:388946)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NEH6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NFA1-1", "uniprot_id": "TIKI2_HUMAN", "mass": 57421.0, "length": 517, "protein_name": "Metalloprotease TIKI2", "gene_name": "TRABD2B", "organism": "Human", "refseq_name": "metalloprotease TIKI2 precursor", "refseq_ac": "NP_001181915", "gene_names_uniprotkb": "TRABD2B; HKAT; TIKI2", "gene_names_refseq": "TIKI2; TRABD2B", "protein_names_uniprotkb": "Metalloprotease TIKI2; 3.4.-.-; Heart, kidney and adipose-enriched transmembrane protein homolog; TRAB domain-containing protein 2B", "protein_names_refseq": "TRAB domain-containing protein 2B; UPF0632 protein A; heart, kidney and adipose-enriched transmembrane protein homolog; metalloprotease TIKI2 precursor; metalloprotease TIKI2", "tax_id": 9606, "disease": "", "pathway": " (hsa:388630)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "22726442;24771064;26631728;26942462;28832583;28855257;29242379;29393594;29557506;30429286;30459171;31844290;32983136;35051231;35182431;35580925", "class_list": "", "function": "Examination of the structural prediction and identification of the active site residues of human TIKI2 Erratum:[J Biol Chem. 2020 Jan 31;295(5):1367. doi: 10.1074/jbc.AAC120.012554. PMID: 32005644], [RefSeq, PubMed]; Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage of the 8 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. Able to cleave WNT3A, WNT5, but not WNT11., [UniProtKB, PubMed, PubMed]; Provided evidence that reduced expression of TIKI family protein in osteosarcoma may participate in the progression of osteosarcoma and restoring its expression was able to impair the growth of osteosarcoma, [RefSeq, PubMed]; Results of the present study indicate that TIKI2 is upregulated in renal cell carcinoma tissues and plays an oncogenic role in renal cell carcinoma, [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": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "I6U4Y0", "ec_number_list": "", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0017147 Wnt-protein binding", "go_cellular_component": "GO:0005886 plasma 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", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "A6NFA1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NGB7-1", "uniprot_id": "TM221_HUMAN", "mass": 30293.0, "length": 291, "protein_name": "Transmembrane protein 221", "gene_name": "TMEM221", "organism": "Human", "refseq_name": "transmembrane protein 221", "refseq_ac": "NP_001177773", "gene_names_uniprotkb": "TMEM221", "gene_names_refseq": "Jiraiya; TMEM221", "protein_names_uniprotkb": "Transmembrane protein 221", "protein_names_refseq": "Putative transmembrane protein ENSP00000342162; transmembrane protein 221", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130519)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "28832583;29331515;30429286;34087483;35051231;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:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A6NGB7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16762-1", "uniprot_id": "THTR_HUMAN", "mass": 33429.0, "length": 297, "protein_name": "Thiosulfate sulfurtransferase", "gene_name": "TST", "organism": "Human", "refseq_name": "thiosulfate sulfurtransferase", "refseq_ac": "NP_001257412", "gene_names_uniprotkb": "TST", "gene_names_refseq": "RDS; TST", "protein_names_uniprotkb": "Thiosulfate sulfurtransferase; 2.8.1.1; Rhodanese", "protein_names_refseq": "epididymis secretory sperm binding protein; thiosulfate sulfurtransferase (rhodanese); thiosulfate sulfurtransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:7263); (R-HSA-1614517); (R-HSA-1614558)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "10212249;10585886;11237011;12665801;12832624;12871026;16195549;16475804;17135237;17459792;17581819;18477386;18494801;18872649;19136963;19261609;19608861;19625201;20663881;21685364;22718265;23038267;23413359;236774;23698001;24981631;25418920;26327310;26437775;26811146;26992070;27270587;27484215;27600516;27862975;27920218;28218747;28412453;28832583;28834231;28904123;29055825;29372909;29557506;29789417;30379171;30429286;30833945;31154438;31844290;32061776;32156684;32157095;32387766;33298915;33912179;33968037;34171305;34185709;34357683;35051231;35580925;37938771;39894887;40033006;4441366;6361026;9070219;9537447", "class_list": "", "function": "Catalyzes the transfer of sulfur ion from thiosulfate to cyanide, although other thiol compounds, besides cyanide, can act as sulfur ion acceptors (By similarity). It also has weak mercaptopyruvate sulfurtransferase (MST) activity (By similarity). Has a pivotal role in cyanide detoxification (PubMed:40033006). Together with MRPL18, acts as a mitochondrial import factor for the cytosolic 5S rRNA. Only the nascent unfolded cytoplasmic form is able to bind to the 5S rRNA (PubMed:20663881, PubMed:21685364)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Silencing of the rhodanese gene caused not only a proportional decrease of 5 S rRNA import but also a general inhibition of mitochondrial translation, indicating the functional importance of the imported 5 S rRNA inside the organelle., [RefSeq, PubMed]; TST mRNA expression in adipose tissue correlated positively with insulin sensitivity in adipose tissue and negatively with fat mass. Erratum:[Nat Med. 2018 Apr 10;24(4):525. doi: 10.1038/nm0418-525e. PMID: 29634685], [RefSeq, PubMed]; This is one of two neighboring genes encoding similar proteins that each contain two rhodanese domains. The encoded protein is localized to the mitochondria and catalyzes the conversion of thiosulfate and cyanide to thiocyanate and sulfite. In addition, the protein interacts with 5S ribosomal RNA and facilitates its import into the mitochondria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]., [RefSeq]; Unraveling the role of thiosulfate sulfurtransferase in metabolic diseases. 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": 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": "B3KRM1;Q6IB06", "ec_number_list": "2.8.1.1;1.8.5.8", "go_molecular_function": "GO:0016783 sulfurtransferase activity;GO:0008097 5S rRNA binding;GO:0004792 thiosulfate-cyanide sulfurtransferase activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0009440 cyanate catabolic process;GO:0051029 rRNA transport;GO:0030855 epithelial cell differentiation;GO:0000098 sulfur amino acid catabolic process;GO:0035928 rRNA import into mitochondrion", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q16762-1", "record_type": "protein" }, { "uniprot_canonical_ac": "B5MCY1-1", "uniprot_id": "TDR15_HUMAN", "mass": 221722.0, "length": 1934, "protein_name": "Tudor domain-containing protein 15", "gene_name": "TDRD15", "organism": "Human", "refseq_name": "tudor domain-containing protein 15", "refseq_ac": "NP_001293066", "gene_names_uniprotkb": "TDRD15", "gene_names_refseq": "TDRD15", "protein_names_uniprotkb": "Tudor domain-containing protein 15", "protein_names_refseq": "tudor domain-containing protein 15; tudor domain-containing protein 6-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:100129278)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "30429286;30524438;32387766;35051231;35580925;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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 38, "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": 0.9, "record_id": "B5MCY1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VZQ5-1", "uniprot_id": "TEX36_HUMAN", "mass": 21545.0, "length": 186, "protein_name": "Testis-expressed protein 36", "gene_name": "TEX36", "organism": "Human", "refseq_name": "testis-expressed protein 36 isoform a", "refseq_ac": "NP_001121674", "gene_names_uniprotkb": "TEX36; C10orf122", "gene_names_refseq": "C10orf122; TEX36; bA383C5.1", "protein_names_uniprotkb": "Testis-expressed protein 36", "protein_names_refseq": "testis-expressed protein 36 isoform a; testis-expressed protein 36; testis-expressed sequence 36 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:387718)", "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": 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": "Q0P5T8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5VZQ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49221-1", "uniprot_id": "TGM4_HUMAN", "mass": 77145.0, "length": 684, "protein_name": "Protein-glutamine gamma-glutamyltransferase 4", "gene_name": "TGM4", "organism": "Human", "refseq_name": "protein-glutamine gamma-glutamyltransferase 4", "refseq_ac": "NP_003232", "gene_names_uniprotkb": "TGM4", "gene_names_refseq": "TGM4; TGP; hTGP", "protein_names_uniprotkb": "Protein-glutamine gamma-glutamyltransferase 4; 2.3.2.13; Fibrinoligase; Prostate transglutaminase; Prostate-specific transglutaminase; TG(P); TGP; TGase P; TGase-4; Transglutaminase P; Transglutaminase-4", "protein_names_refseq": "TGase P; TGase-4; fibrinoligase; prostate transglutaminase; prostate-specific transglutaminase; protein-glutamine gamma-glutamyltransferase 4; transglutaminase 4 (prostate); transglutaminase P", "tax_id": 9606, "disease": "", "pathway": " (hsa:7047)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;17552366;24715725;26084804;29557506;30410026;31249104;34830327;35051231;36585193;7916568;8645175", "class_list": "", "function": "Associated with the mammalian reproductive process. Catalyzes the cross-linking of proteins and the conjugation of polyamines to specific proteins in the seminal tract., [UniProtKB]; Biochemical Characterisation of Human Transglutaminase 4. Publication Status: Online-Only, [RefSeq, PubMed]; TGM4 is a prostatic secretory molecule with critical role in male reproduction., [RefSeq, PubMed]; TGM4 is elevated in the seminal plasma of prostate cancer patients., [RefSeq, PubMed]; Transglutaminase 4 has a relatively wide profile of expression in human cancer cell lines, [RefSeq, PubMed]; Transglutaminase-4 (Prostate Transglutaminase), a Potential Biological Factor and Clinical Indicator for the Diagnosis and Prognosis of Prostate Cancer. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q16707;Q96QN4", "ec_number_list": "2.3.2.13;3.4.-.-;2.3.1.-;3.5.1.44", "go_molecular_function": "GO:0046872 metal ion binding;GO:0003810 protein-glutamine gamma-glutamyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0018149 peptide cross-linking", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "P49221-1", "record_type": "protein" }, { "uniprot_canonical_ac": "H3BV60-1", "uniprot_id": "TGR3L_HUMAN", "mass": 30175.0, "length": 292, "protein_name": "Transforming growth factor-beta receptor type 3-like protein", "gene_name": "TGFBR3L", "organism": "Human", "refseq_name": "transforming growth factor-beta receptor type 3-like protein isoform 2", "refseq_ac": "NP_001182188", "gene_names_uniprotkb": "TGFBR3L", "gene_names_refseq": "GEMP; TGFBR3L; TGFR-3L", "protein_names_uniprotkb": "Transforming growth factor-beta receptor type 3-like protein; TGF-beta receptor type III-like protein; TGF-beta receptor type-3-like protein; TGFR-3L; Transforming growth factor-beta receptor type III-like protein", "protein_names_refseq": "TGF-beta receptor type III-like protein; TGF-beta receptor type-3-like protein; gonadotroph enriched membrane protein; transforming growth factor, beta receptor III-like; transforming growth factor-beta receptor type 3-like protein isoform 2; transforming growth factor-beta receptor type 3-like protein; transforming growth factor-beta receptor type III-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:100507588)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;15885500;23481700;26468016;28832583;29242379;34910520;36952069", "class_list": "", "function": "Data show that the rs11669203 G>C polymorphism, located in transforming growth factor-beta receptor type 3-like protein (TGFBR3L) promoter, is significantly associated with the risk of neuroblastoma (NB)., [RefSeq, PubMed]; Expressed in gonadotrope cells, acts as an inhibin B coreceptor and regulates follicle-stimulating hormone (FSH) levels and female fertility., [UniProtKB, PubMed]; TGFBR3L is associated with gonadotropin production in non-functioning gonadotroph pituitary neuroendocrine tumours., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0005024 transforming growth factor beta receptor activity;GO:0005114 type II transforming growth factor beta receptor binding;GO:0005539 glycosaminoglycan binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:0016477 cell migration;GO:0007179 transforming growth factor beta receptor signaling pathway;GO:0001837 epithelial to mesenchymal transition", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "H3BV60-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14788-1", "uniprot_id": "TNF11_HUMAN", "mass": 35478.0, "length": 317, "protein_name": "Tumor necrosis factor ligand superfamily member 11", "gene_name": "TNFSF11", "organism": "Human", "refseq_name": "tumor necrosis factor ligand superfamily member 11 isoform 1", "refseq_ac": "NP_003692", "gene_names_uniprotkb": "TNFSF11; OPGL; RANKL; TRANCE", "gene_names_refseq": "CD254; ODF; OPGL; OPTB2; RANKL; TNFSF11; TNLG6B; TRANCE; hRANKL2; sOdf", "protein_names_uniprotkb": "Tumor necrosis factor ligand superfamily member 11; ODF; OPGL; Osteoclast differentiation factor; Osteoprotegerin ligand; RANKL; Receptor activator of nuclear factor kappa-B ligand; TNF-related activation-induced cytokine; TRANCE", "protein_names_refseq": "TNF-related activation-induced cytokine; osteoclast differentiation factor; osteoprotegerin ligand; receptor activator of nuclear factor kappa B ligand; tumor necrosis factor (ligand) superfamily, member 11; tumor necrosis factor ligand 6B; tumor necrosis factor ligand superfamily member 11 isoform 1; tumor necrosis factor superfamily member 11", "tax_id": 9606, "disease": "autosomal recessive osteopetrosis 2 (Disease Ontology:DOID:0110943); osteoporosis (Disease Ontology:DOID:11476); mucopolysaccharidosis VI (Disease Ontology:DOID:12800); myocardial infarction (Disease Ontology:DOID:5844); myocarditis (Disease Ontology:DOID:820); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:8600); (R-HSA-5668541); (R-HSA-5669034); (R-HSA-5676594); (R-HSA-9856649)", "pathway_count": 5, "publication_count": 141, "publication_id_list": "10074428;10085077;10359578;10398604;10484778;10567402;10597252;10611221;10615125;10655586;10673502;10708588;10797013;11027551;11571266;11728344;11840323;11853672;11882293;11891324;11911831;11912130;11930005;12189164;12374738;12529173;12571250;12721620;12787562;12949498;14656435;14975237;15084608;15118077;15226305;15356117;15368291;15470070;15507434;15585864;15644327;15824857;16014379;16034366;16501042;1655907;16822840;1698554;1748288;17623675;17632511;17636564;18571443;18606301;18635759;18644867;18997792;18997794;19241374;19426221;19524539;19608861;19815541;20032458;20222921;20307208;20385556;20460180;20483727;20510730;20979233;21081755;21091114;21300286;21486943;21654843;21965087;22197273;22647378;22664871;22801960;23159739;23190890;23207919;23667509;24070496;24248355;24298274;24432023;24715725;25152365;25248477;25595898;27128622;27846572;27920218;28121444;28394346;28467828;28832583;29242379;29295999;29769354;30804224;32636443;33744299;34140478;35154160;35580925;37770430;38382805;38583439;38594779;38614129;39062686;5338216;7544915;7639698;7913952;7958932;8120384;8336698;8521496;8663299;8702708;8871664;9122217;9199364;9247583;9312132;9353119;9367155;9440696;9560246;9568710;9676189;9718306;9760192;9852070;9878548;9973413", "class_list": "", "function": "Accumulation of gammadeltaT cells in the decidua is promoted by RANKL which upregulates ICAM-1 via NF-kappaB. Publication Status: Online-Only, [RefSeq, PubMed]; Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T-cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy (PubMed:22664871). Induces osteoclastogenesis by activating multiple signaling pathways in osteoclast precursor cells, chief among which is induction of long lasting oscillations in the intracellular concentration of Ca (2+) resulting in the activation of NFATC1, which translocates to the nucleus and induces osteoclast-specific gene transcription to allow differentiation of osteoclasts. During osteoclast differentiation, in a TMEM64 and ATP2A2-dependent manner induces activation of CREB1 and mitochondrial ROS generation necessary for proper osteoclast generation (By similarity)., [UniProtKB, UniProtKB, PubMed]; Genetic Variants of the Receptor Activator Nuclear of kappaB Ligand Gene Increase the Risk of Rheumatoid Arthritis in a Mexican Mestizo Population: A Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; Osteoprotegerin and receptor activator of the nuclear factor kappa B ligand (RANKL) in healthy pubertal girls - relationships with physical growth and classical bone turnover markers., [RefSeq, PubMed]; Overexpression of TNFSF11 reduces GPX4 levels and increases sensitivity to ferroptosis inducers in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; RANK/RANKL axis promotes migration, invasion, and metastasis of osteosarcoma via activating NF-kappaB pathway., [RefSeq, PubMed]; This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dendritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. [provided by RefSeq, Mar 2026]., [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": 2, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O14723;Q96Q17;Q9P2Q3", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein 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_biological_process": "GO:0030316 osteoclast differentiation;GO:0071812 positive regulation of fever generation by positive regulation of prostaglandin secretion;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "O14788-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15417-1", "uniprot_id": "TNC18_HUMAN", "mass": 314519.0, "length": 2968, "protein_name": "Trinucleotide repeat-containing gene 18 protein", "gene_name": "TNRC18", "organism": "Human", "refseq_name": "trinucleotide repeat-containing gene 18 protein", "refseq_ac": "NP_001073964", "gene_names_uniprotkb": "TNRC18; CAGL79; KIAA1856", "gene_names_refseq": "CAGL79; TNRC18A; TNRC18", "protein_names_uniprotkb": "Trinucleotide repeat-containing gene 18 protein; Long CAG trinucleotide repeat-containing gene 79 protein", "protein_names_refseq": "long CAG trinucleotide repeat-containing gene 79 protein; trinucleotide repeat-containing gene 18 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:84629)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "11237011;16112985;18669648;19690332;20068231;23186163;23481700;24275569;24714562;24715725;25576301;25645385;26154972;26728094;26758079;26992070;27600516;27846572;27862975;28832583;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30059200;30192525;30315122;30429286;30524438;30779550;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32535594;32574038;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;35051231;35289036;35318648;35580925;36010968;36215666;36241641;36284347;37938770;38253038;39531497;40596516;9225980", "class_list": "", "function": "Chromatin reader involved in the silencing of endogenous retroviruses (ERV) class-I elements, such as LTR12 (PubMed:37938770). Specifically binds histone H3 trimethylated at 'Lys-9' (H3K9me3) deposited by SETB1 at class-I ERV and directly mediates recruitment of corepressor complexes, such as Sin3-type and N-Cor complexes, leading to ERV silencing (PubMed:37938770)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Disruption of PCDH10 and TNRC18 Genes due to a Balanced Translocation., [RefSeq, PubMed]", "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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 65, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A8MX41;Q96JH1;Q96K91", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0062072 histone H3K9me2/3 reader activity;GO:0140463 chromatin-protein adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0031965 nuclear membrane", "go_biological_process": "GO:0071168 protein localization to chromatin;GO:0141005 transposable element silencing by heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "O15417-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15482-1", "uniprot_id": "TEX28_HUMAN", "mass": 46131.0, "length": 410, "protein_name": "Testis-specific protein TEX28", "gene_name": "TEX28P1; TEX28P2; TEX28", "organism": "Human", "refseq_name": "testis-specific protein TEX28", "refseq_ac": "NP_001192130", "gene_names_uniprotkb": "TEX28P1; TEX28P2; TEX28; CXorf2", "gene_names_refseq": "CXorf2; MRX99; TEX28; fTEX", "protein_names_uniprotkb": "Testis-specific protein TEX28", "protein_names_refseq": "testis-specific protein TEX28", "tax_id": 9606, "disease": "alcohol-related neurodevelopmental disorder (Disease Ontology:DOID:0050667)", "pathway": " (hsa:1527)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "15378397;18452278;19098318;22424782;29557506;32502341;34561969;35051231;36284347;9268643", "class_list": "", "function": "Proposed a structure of the second gene of 3-gene arrays, Green-pTEX-Green-pTEX-Green-fTEX and Red-pTEX-Red-pTEX-Red-fTEX, in color-vision-deficient subjects, [RefSeq, PubMed]; TEX28 gene CNVs (copy number variations) appear to be associated with the MYP1 X-linked myopia phenotypes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1B1E8;D3DWW5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "O15482-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43548-1", "uniprot_id": "TGM5_HUMAN", "mass": 80778.0, "length": 720, "protein_name": "Protein-glutamine gamma-glutamyltransferase 5", "gene_name": "TGM5", "organism": "Human", "refseq_name": "protein-glutamine gamma-glutamyltransferase 5 isoform 2", "refseq_ac": "NP_004236", "gene_names_uniprotkb": "TGM5; TGMX", "gene_names_refseq": "PSS2; TG(X); TGASE5; TGASEX; TGM5; TGMX; TGX", "protein_names_uniprotkb": "Protein-glutamine gamma-glutamyltransferase 5; 2.3.2.13; TG(X); TGX; TGase X; TGase-5; Transglutaminase X; Transglutaminase-5", "protein_names_refseq": "TGase X; TGase-5; protein-glutamine gamma-glutamyltransferase 5 isoform 2; protein-glutamine gamma-glutamyltransferase 5; transglutaminase V; transglutaminase X", "tax_id": 9606, "disease": "peeling skin syndrome 2 (Disease Ontology:DOID:0070521)", "pathway": " (hsa:9333); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11390390;11590230;12230511;12902340;15033990;15290346;15290349;15337775;15797384;15803139;16061697;16380904;16639001;17515931;17562024;17596512;18843291;19190773;19194479;19440220;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481700;23629652;24715725;25576301;25645385;25926655;26154972;26390218;27726376;28832583;29242379;30379171;31844290;32387766;32618001;32897882;33141586;33298915;33968037;34211107;34509645;35051231;35254053;35318648;7543090;8824274;8999895;9395522;9452468;9565599", "class_list": "", "function": "A homozygous missense mutation in TGM5 abolishes epidermal TGM5 activity and causes acral peeling skin syndrome., [RefSeq, PubMed]; A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family., [RefSeq, PubMed]; Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes., [UniProtKB]; Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis., [RefSeq, PubMed]; Results demonstrate that transglutaminase 5 is able to induce cell death when intracellularly overexpressed., [RefSeq, PubMed]; This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]., [RefSeq]; Transglutaminase 5 contributes, as a secondary effect, to the hyperkeratotic phenotype in ichthyosis (both vulgaris and lamellar) and in psoriasis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 26, "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": "O43549;Q0VF40;Q9UEZ4", "ec_number_list": "2.3.2.13;3.4.-.-;2.3.1.-;3.5.1.44", "go_molecular_function": "GO:0046872 metal ion binding;GO:0003810 protein-glutamine gamma-glutamyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0036211 protein modification process;GO:0008544 epidermis development;GO:0018149 peptide cross-linking", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "O43548-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P25325-1", "uniprot_id": "THTM_HUMAN", "mass": 33178.0, "length": 297, "protein_name": "3-mercaptopyruvate sulfurtransferase", "gene_name": "MPST", "organism": "Human", "refseq_name": "3-mercaptopyruvate sulfurtransferase isoform 2", "refseq_ac": "NP_001013454", "gene_names_uniprotkb": "MPST; TST2", "gene_names_refseq": "MPST; MST; TST2; TUM1", "protein_names_uniprotkb": "3-mercaptopyruvate sulfurtransferase; 2.8.1.2; MST", "protein_names_refseq": "3-mercaptopyruvate sulfurtransferase isoform 2; 3-mercaptopyruvate sulfurtransferase; human liver rhodanese; tRNA thiouridin modification protein 1; testicular tissue protein Li 200", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352); encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (MONDO:MONDO:0009585)", "pathway": " (hsa:4357); (R-HSA-1614558)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10212249;11237011;12871026;16195549;16545926;17135237;17581819;18477386;18872649;19261609;1953758;19625201;19695240;20068231;20446008;22718265;23038267;23301498;23413359;236774;23698001;24275569;24715725;26154972;26327310;26437775;26992070;27484215;28412453;28510447;28904123;29055825;29372909;29437277;29557506;30429286;31154438;31844290;31937595;31998317;32156684;32157095;32502341;33141586;33298915;33936100;33968037;34019948;34171305;34211107;34229054;35051231;35243746;36126419;36732619;38631098;38665916;4690911;4973015;6945862;9070219;9537447", "class_list": "", "function": "3-Mercaptopyruvate sulfur transferase is a protein persulfidase., [RefSeq, PubMed]; 3-Mercaptopyruvate sulfurtransferase represses tumour progression and predicts prognosis in hepatocellular carcinoma., [RefSeq, PubMed]; Data suggest that impaired rhodanese expression is associated with increased whole cell reactive oxygen species as well as higher mitochondrial superoxide production and predicts mortality in hemodialysis patients., [RefSeq, PubMed]; In all the investigated cell lines, the activity of MPST was higher than that of CST, which suggests that in these cells, the main pathway of sulfane sulfur formation is the MPST-catalyzed reaction., [RefSeq, PubMed]; MPST deficiency promotes intestinal epithelial cell apoptosis and aggravates inflammatory bowel disease via AKT., [RefSeq, PubMed]; Role of the 3-mercaptopyruvate sulfurtransferase in colon/colorectal cancers., [RefSeq, PubMed]; This protein encoded by this gene catalyzes the transfer of a sulfur ion from 3-mercaptopyruvate to cyanide or other thiol compounds. It may be involved in cysteine degradation and cyanide detoxification. There is confusion in literature between this protein (mercaptopyruvate sulfurtransferase, MPST), which appears to be cytoplasmic, and thiosulfate sulfurtransferase (rhodanese, TST, GeneID:7263), which is a mitochondrial protein. Deficiency in MPST activity has been implicated in a rare inheritable disorder known as mercaptolactate-cysteine disulfiduria (MCDU). Alternatively spliced transcript variants encoding same or different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; This work is the first report of a functional genetic polymorphism affecting MPST and should help in investigation of disorders such as mercaptolactate-cysteine disulfiduria., [RefSeq, PubMed]; Transfer of a sulfur ion to cyanide or to other thiol compounds. Also has weak rhodanese activity. Detoxifies cyanide and is required for thiosulfate biosynthesis. Acts as an antioxidant. In combination with cysteine aminotransferase (CAT), contributes to the catabolism of cysteine and is an important producer of hydrogen sulfide in the brain, retina and vascular endothelial cells. Hydrogen sulfide H(2)S is an important synaptic modulator, signaling molecule, smooth muscle contractor and neuroprotectant. Its production by the 3MST/CAT pathway is regulated by calcium ions., [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": 3, "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": "A8MZ34;B3KP52;J3KPV7;O75750;Q6FHN9", "ec_number_list": "2.8.1.2", "go_molecular_function": "GO:0016783 sulfurtransferase activity;GO:0016784 3-mercaptopyruvate sulfurtransferase activity;GO:0042802 identical protein binding;GO:0004792 thiosulfate-cyanide sulfurtransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0045202 synapse;GO:0070062 extracellular exosome;GO:0043005 neuron projection", "go_biological_process": "GO:0002143 tRNA wobble position uridine thiolation;GO:0009440 cyanate catabolic process;GO:0001889 liver development;GO:0021510 spinal cord development;GO:0001822 kidney development", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "P25325-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49788-1", "uniprot_id": "TIG1_HUMAN", "mass": 33285.0, "length": 294, "protein_name": "Retinoic acid receptor responder protein 1", "gene_name": "RARRES1", "organism": "Human", "refseq_name": "retinoic acid receptor responder protein 1 isoform 2 precursor", "refseq_ac": "NP_002879", "gene_names_uniprotkb": "RARRES1; PEIG1; TIG1", "gene_names_refseq": "LXNL; PERG-1; RARRES1; TIG1", "protein_names_uniprotkb": "Retinoic acid receptor responder protein 1; PERG-1; Phorbol ester-induced gene 1 protein; RAR-responsive protein TIG1; Tazarotene-induced gene 1 protein", "protein_names_refseq": "RAR-responsive protein TIG1; latexin-like; phorbol ester-induced gene 1 protein; retinoic acid receptor responder (tazarotene induced) 1; retinoic acid receptor responder protein 1 isoform 2 precursor; retinoic acid receptor responder protein 1; tazarotene-induced gene 1 protein", "tax_id": 9606, "disease": "follicular lymphoma (Disease Ontology:DOID:0050873)", "pathway": " (hsa:5918)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "15059893;21081667;21303978;23090970;24190977;25576301;27399812;29093164;29331515;29557506;29786170;29789417;30779550;31154438;31844290;32157095;32488085;32502341;34185709;35051231;35318648;36213313;37224335;37247911;37453717;38697478;38898266;38940043;8601727;8832110", "class_list": "", "function": "GDF15 Mediates the Effect of Skeletal Muscle Contraction on Glucose-Stimulated Insulin Secretion., [RefSeq, PubMed]; Inhibitor of the cytoplasmic carboxypeptidase AGBL2, may regulate the alpha-tubulin tyrosination cycle., [UniProtKB, PubMed]; Podocyte-derived soluble RARRES1 drives kidney disease progression through direct podocyte and proximal tubular injury., [RefSeq, PubMed]; RARRES1 identified by comprehensive bioinformatic analysis and experimental validation as a promising biomarker in Skin Cutaneous Melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing of TIG1 promoter by hypermethylation is common in human cancers and may contribute to the loss of retinoic acid responsiveness in some neoplastic cells., [RefSeq, PubMed]; TIG1 Inhibits the mTOR Signaling Pathway in Malignant Melanoma Through the VAC14 Protein., [RefSeq, PubMed]; Tazarotene-induced Gene 1 Induces Melanoma Cell Death by Triggering Endoplasmic Reticulum Stress Response., [RefSeq, PubMed]; This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. [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": 1, "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": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "Q8N1D7", "ec_number_list": "", "go_molecular_function": "GO:0008191 metalloendopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "P49788-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51864-1", "uniprot_id": "TDGF3_HUMAN", "mass": 21181.0, "length": 188, "protein_name": "Protein CRIPTO3", "gene_name": "CRIPTO3", "organism": "Human", "refseq_name": "protein CRIPTO3 precursor", "refseq_ac": "NP_001384291", "gene_names_uniprotkb": "CRIPTO3; CRIPTO-3; TDGF1P3; TDGF2; TDGF3", "gene_names_refseq": "CR-3; CRIPTO-3; CRIPTO3; TDGF1P3; TDGF1; TDGF2; TDGF3", "protein_names_uniprotkb": "Protein CRIPTO3; Cripto, EGF-CFC family member 3; Cripto-3 growth factor; Epidermal growth factor-like cripto protein CR3; Teratocarcinoma-derived growth factor 1 pseudogene 3; Teratocarcinoma-derived growth factor 3", "protein_names_refseq": "Teratocarcinoma-derived growth factor-2; cripto-3 growth factor; epidermal growth factor-like cripto protein CR3; protein CRIPTO3 precursor; putative protein CRIPTO3; putative teratocarcinoma-derived growth factor 3; teratocarcinoma-derived growth factor 2 (retroposin, possibly expressed)", "tax_id": 9606, "disease": "", "pathway": " (hsa:6998); (R-HSA-1181150); (R-HSA-1433617)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "10067895;10473623;10822381;10934479;11024047;11294908;11389842;11485994;11779503;11779505;12063393;12592392;14978253;15062104;15150278;15350224;15485907;15531507;16260601;16954206;17272273;1882841;18835250;19114992;20694664;21356369;21383881;21532621;25603319;29557506;36436343;8878477;9288972;9311995;9670020;9702198", "class_list": "", "function": "CRIPTO-3, a processed pseudogene of CRIPTO-1 on the X chromosome, is expressed in undifferentiated NT2 cells and is regulated by germ cell nuclear factor in parallel to CRIPTO-1, [RefSeq, PubMed]; Could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm. Activates the Nodal-dependent signaling pathway., [UniProtKB, PubMed]; Pseudogene TDGF1P3 regulates the proliferation and metastasis of colorectal cancer cells via the miR-338-3p-PKM2 axis., [RefSeq, PubMed]; The TDGF3 locus has characteristics of a retrotransposon, including lack of introns and a poly(A) sequence. [provided by RefSeq, Jul 2008]., [RefSeq]; These data indicate that CRIPTO3 is an expressed gene, particularly in certain cancers, and suggest a potentially novel mechanism of oncogenesis through activation of a retrogene., [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": 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:0008083 growth factor activity;GO:0038100 nodal binding;GO:0070697 activin receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007165 signal transduction;GO:0007507 heart development;GO:0001568 blood vessel development;GO:0009952 anterior/posterior pattern specification;GO:0038092 nodal signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P51864-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53EQ6-1", "uniprot_id": "TIGD5_HUMAN", "mass": 69222.0, "length": 642, "protein_name": "Tigger transposable element-derived protein 5", "gene_name": "TIGD5", "organism": "Human", "refseq_name": "tigger transposable element-derived protein 5", "refseq_ac": "NP_116251", "gene_names_uniprotkb": "TIGD5", "gene_names_refseq": "TIGD5", "protein_names_uniprotkb": "Tigger transposable element-derived protein 5", "protein_names_refseq": "tigger transposable element-derived protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:84948)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "22424782;23481700;24714562;25418920;26154972;26811146;26929215;26992070;28063628;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29786170;30315122;30833945;31217245;31844290;32265295;32357974;32387766;32502341;32938616;33393181;33717175;33968037;34087483;34171305;34211107;34561969;35051231;36054307", "class_list": "", "function": "Comprehensive Integrative Analyses Identify TIGD5 rs75547282 as a Risk Variant for Autism Spectrum Disorder., [RefSeq, PubMed]; The TIGD5 gene located in 8q24 and frequently amplified in ovarian cancers is a tumor suppressor., [RefSeq, PubMed]; 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "E7EWS2;Q6NT83;Q8N5A1;Q96JW8", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0007379 segment specification;GO:0021556 central nervous system formation", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q53EQ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NUR3-1", "uniprot_id": "TM74B_HUMAN", "mass": 27551.0, "length": 256, "protein_name": "Transmembrane protein 74B", "gene_name": "TMEM74B", "organism": "Human", "refseq_name": "transmembrane protein 74B isoform 1", "refseq_ac": "NP_001291677", "gene_names_uniprotkb": "TMEM74B; C20orf46", "gene_names_refseq": "C20orf46; TMEM74B", "protein_names_uniprotkb": "Transmembrane protein 74B", "protein_names_refseq": "transmembrane protein 74B isoform 1; transmembrane protein C20orf46", "tax_id": 9606, "disease": "", "pathway": " (hsa:55321)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;31548259;33392160;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": "D3DVW5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9NUR3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T4D3-1", "uniprot_id": "TMTC4_HUMAN", "mass": 82991.0, "length": 741, "protein_name": "Protein O-mannosyl-transferase TMTC4", "gene_name": "TMTC4", "organism": "Human", "refseq_name": "protein O-mannosyl-transferase TMTC4 isoform 2", "refseq_ac": "NP_001073137", "gene_names_uniprotkb": "TMTC4", "gene_names_refseq": "DFNB122; TMTC4", "protein_names_uniprotkb": "Protein O-mannosyl-transferase TMTC4; 2.4.1.109; Transmembrane O-mannosyltransferase targeting cadherins 4; Transmembrane and tetratricopeptide repeat-containing 4", "protein_names_refseq": "protein O-mannosyl-transferase TMTC4 isoform 2; protein O-mannosyl-transferase TMTC4; transmembrane and TPR repeat-containing protein 4; transmembrane and tetratricopeptide repeat containing 4", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness (Disease Ontology:DOID:0050565); autosomal recessive nonsyndromic deafness 122 (Disease Ontology:DOID:0070669)", "pathway": " (hsa:84899)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16959974;24190977;25418920;26992070;27920218;28063628;28514659;28834231;28904123;28973932;29393594;29437277;29632046;29786170;30779550;31154438;31530632;31844290;32157095;32265295;32357974;32387766;32502341;32938616;33392160;33436046;33912179;33925440;33968037;34171305;35051231;35580925;36010968;37074911;37943620", "class_list": "", "function": "Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites. Publication Status: Online-Only, [RefSeq, PubMed]; TMTC4 is a hair cell-specific human deafness gene. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate protein-protein interactions in various cellular processes, such as synaptic vesicle fusion, protein folding, and protein translocation. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Apr 2017]., [RefSeq]; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3., [UniProtKB, PubMed]; Transmembrane and Tetratricopeptide Repeat Containing 4 Is a Novel Diagnostic Marker for Prostate Cancer with High Specificity and Sensitivity. 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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 7, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NLI7;B7Z666;Q5T4D4;Q5T4D5;Q5T4D6;Q8WV63;Q96SU8", "ec_number_list": "2.4.1.109", "go_molecular_function": "GO:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity;GO:0051117 ATPase binding;GO:0000030 mannosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "GO:0030968 endoplasmic reticulum unfolded protein response;GO:0035269 protein O-linked glycosylation via mannose", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q5T4D3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VVB8-1", "uniprot_id": "TM244_HUMAN", "mass": 14657.0, "length": 128, "protein_name": "Putative transmembrane protein 244", "gene_name": "TMEM244", "organism": "Human", "refseq_name": "putative transmembrane protein 244", "refseq_ac": "NP_001010876", "gene_names_uniprotkb": "TMEM244; C6orf191", "gene_names_refseq": "C6orf191; TMEM244; bA174C7.4", "protein_names_uniprotkb": "Putative transmembrane protein 244", "protein_names_refseq": "putative transmembrane protein 244; putative transmembrane protein C6orf191", "tax_id": 9606, "disease": "", "pathway": " (hsa:253582)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;28904123;30429286;32794659;36087622;36834942", "class_list": "", "function": "Hypomethylation of the promoter region drives ectopic expression of TMEM244 in Sezary cells., [RefSeq, PubMed]; TMEM244 Gene Expression as a Potential Blood Diagnostic Marker Distinguishing Sezary Syndrome from Mycosis Fungoides and Benign Erythroderma., [RefSeq, PubMed]; TMEM244 Is a Long Non-Coding RNA Necessary for CTCL 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0016020 membrane;GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5VVB8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VZ19-1", "uniprot_id": "TDR10_HUMAN", "mass": 40941.0, "length": 366, "protein_name": "Tudor domain-containing protein 10", "gene_name": "TDRD10", "organism": "Human", "refseq_name": "tudor domain-containing protein 10 isoform a", "refseq_ac": "NP_001091945", "gene_names_uniprotkb": "TDRD10; PRO34205", "gene_names_refseq": "TDRD10", "protein_names_uniprotkb": "Tudor domain-containing protein 10", "protein_names_refseq": "tudor domain-containing protein 10 isoform a; tudor domain-containing protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:126668)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12975309;24423473;35051231;35494241", "class_list": "", "function": "Suggest rs6674171 TDRD10 SNP is not a susceptibility factor for abdominal aortic aneurysms in an Italian population., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A4FU09;B0QZ53;B4DXV4;Q3ZCP1;Q3ZCS7;Q5SXY7;Q6UXV2;Q8TCN3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0034237 protein kinase A regulatory subunit binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5VZ19-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6B0B8-1", "uniprot_id": "TIGD3_HUMAN", "mass": 52027.0, "length": 471, "protein_name": "Tigger transposable element-derived protein 3", "gene_name": "TIGD3", "organism": "Human", "refseq_name": "tigger transposable element-derived protein 3", "refseq_ac": "NP_663771", "gene_names_uniprotkb": "TIGD3", "gene_names_refseq": "TIGD3", "protein_names_uniprotkb": "Tigger transposable element-derived protein 3", "protein_names_refseq": "tigger transposable element-derived protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:220359)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "22080934;26768311;30779550;31844290;31937595;32983136;33091337;35494241;35661819;36215666;36241641", "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]; The strongest candidate as CENP-B paralogue, TIGD3, demonstrated no native centromeric binding when using raised antibodies, either in human cells or in cenpb (-/-) mouse ES 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": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6B0B8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZMP0-1", "uniprot_id": "THSD4_HUMAN", "mass": 112450.0, "length": 1018, "protein_name": "Thrombospondin type-1 domain-containing protein 4", "gene_name": "THSD4", "organism": "Human", "refseq_name": "thrombospondin type-1 domain-containing protein 4 isoform 2 precursor", "refseq_ac": "NP_001273358", "gene_names_uniprotkb": "THSD4; PRO34005", "gene_names_refseq": "AAT12; ADAMTSL-6; ADAMTSL6; FVSY9334; PRO34005; THSD4", "protein_names_uniprotkb": "Thrombospondin type-1 domain-containing protein 4; A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6; ADAMTS-like protein 6; ADAMTSL-6", "protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6; ADAMTS-like protein 6; thrombospondin type-1 domain-containing protein 4 isoform 2 precursor; thrombospondin type-1 domain-containing protein 4; thrombospondin, type I, domain containing 4", "tax_id": 9606, "disease": "thoracic aortic aneurysm (Disease Ontology:DOID:14004); asthma (Disease Ontology:DOID:2841); aortic aneurysm, familial thoracic 12 (MONDO:MONDO:0030731)", "pathway": " (hsa:79875); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 33, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11067851;11237011;12975309;16464858;18488137;18720094;19240061;19796186;22588082;23090970;23584533;23889335;24190977;25410484;25544610;29242379;29393594;29557506;29741879;30429286;30459171;32157095;32855533;33592498;33875786;33912179;33968037;34087483;35051231;37074911;38665916", "class_list": "", "function": "In breast cancer, some GATA3 effects shift from tumor suppressing to tumor promoting during tumorigenesis, with deregulation of three genes, BCL2, DACH1, THSD4, representing major GATA3-controlled processes in cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Promotes FBN1 matrix assembly. Attenuates TGFB signaling, possibly by accelerating the sequestration of large latent complexes of TGFB or active TGFB by FBN1 microfibril assembly, thereby negatively regulating the expression of TGFB regulatory targets, such as POSTN., [UniProtKB, PubMed]; Variations may be important determinants of osteoporosis in Japanese women. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; ZNF37A promotes tumor metastasis through transcriptional control of THSD4/TGF-beta axis 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 24, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 24, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 24, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 43, "disease_count": 3, "glyco_site_count": 27, "binding_glycan_count": 0, "secondary_ac_list": "B2RTY3;B4DR13;Q6MZI3;Q6UXZ8;Q9H8E4", "ec_number_list": "", "go_molecular_function": "GO:0016787 hydrolase activity", "go_cellular_component": "GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0001527 microfibril", "go_biological_process": "GO:0160054 microfibril assembly", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q6ZMP0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZNK6-1", "uniprot_id": "TIFAB_HUMAN", "mass": 17888.0, "length": 161, "protein_name": "TRAF-interacting protein with FHA domain-containing protein B", "gene_name": "TIFAB", "organism": "Human", "refseq_name": "TRAF-interacting protein with FHA domain-containing protein B", "refseq_ac": "NP_001092691", "gene_names_uniprotkb": "TIFAB", "gene_names_refseq": "TIFAB", "protein_names_uniprotkb": "TRAF-interacting protein with FHA domain-containing protein B; TIFA-like protein", "protein_names_refseq": "TIFA-like protein; TIFA-related protein TIFAB; TRAF-interacting protein with FHA domain-containing protein B; TRAF-interacting protein with forkhead-associated domain, family member B", "tax_id": 9606, "disease": "", "pathway": " (hsa:497189)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "15047173;26458771;26992070;28832583;31154438;32101751;32910997;33592498;35580925", "class_list": "", "function": "Inhibits TIFA-mediated TRAF6 activation possibly by inducing a conformational change in TIFA., [UniProtKB, PubMed]; TIFA and TIFAB: FHA-domain proteins involved in inflammation, hematopoiesis, and disease. Review article, [RefSeq, PubMed]; TIFAB Regulates USP15-Mediated p53 Signaling during Stressed and Malignant Hematopoiesis., [RefSeq, PubMed]; TIFAB loss increases TRAF6 protein and the dynamic range of TLR4 signaling, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5H8A9", "ec_number_list": "", "go_molecular_function": "GO:0043021 ribonucleoprotein complex binding;GO:1990381 ubiquitin-specific protease binding;GO:0035800 deubiquitinase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0022625 cytosolic large ribosomal subunit", "go_biological_process": "GO:0048806 genitalia development;GO:0030432 peristalsis;GO:0031223 auditory behavior;GO:0048634 regulation of muscle organ development;GO:0071626 mastication", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6ZNK6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZT21-1", "uniprot_id": "TMPPE_HUMAN", "mass": 49453.0, "length": 453, "protein_name": "Transmembrane protein with metallophosphoesterase domain", "gene_name": "TMPPE", "organism": "Human", "refseq_name": "transmembrane protein with metallophosphoesterase domain isoform 1", "refseq_ac": "NP_001034859", "gene_names_uniprotkb": "TMPPE", "gene_names_refseq": "TMPPE", "protein_names_uniprotkb": "Transmembrane protein with metallophosphoesterase domain; 3.1.-.-", "protein_names_refseq": "transmembrane protein with metallophosphoesterase domain isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:643853)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "23481700;24715725;25892735;26154972;27397612;27452731;27846572;27862975;28467828;28832583;29242379;29493099;29557506;29769354;30429286;31154438;31844290;31848261;32387766;32938616;32983136;33141586;33592498;33717175;33912179;33968037;34211107;34357683;34509645;35051231;35580925;36581221", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RNG5;Q6ZRG1", "ec_number_list": "", "go_molecular_function": "GO:0016787 hydrolase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q6ZT21-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZUK4-1", "uniprot_id": "TMM26_HUMAN", "mass": 41672.0, "length": 368, "protein_name": "Transmembrane protein 26", "gene_name": "TMEM26", "organism": "Human", "refseq_name": "transmembrane protein 26", "refseq_ac": "NP_848600", "gene_names_uniprotkb": "TMEM26", "gene_names_refseq": "TMEM26", "protein_names_uniprotkb": "Transmembrane protein 26", "protein_names_refseq": "transmembrane protein 26", "tax_id": 9606, "disease": "", "pathway": " (hsa:219623)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;19349973;22299025;22986903;27224909;30779550;32387766;35051231;36581221;37611445", "class_list": "", "function": "High TMEM26 expression was found to be associated with a higher risk of recurrence., [RefSeq, PubMed]; Show novel expression of genes near regions of significantly associated SNPS, including TMEM26 and FOXA1 in airway epithelium and lung parenchyma, and ANK3 in alveolar macrophages in COPD, [RefSeq, PubMed]; The role of TMEM26 in disrupting tight junctions and activating NF-kappaB signaling to promote epithelial-mesenchymal transition in esophageal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein containing multiple transmembrane helices. It is a selective surface protein marker of brite/beige adipocytes, which may coexist with classical brown adipocytes in brown adipose tissue. Alternative splicing of this gene 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": 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": 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": "Q6ZVM0;Q8IVN9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6ZUK4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZUX3-1", "uniprot_id": "TGRM2_HUMAN", "mass": 111153.0, "length": 1019, "protein_name": "TOG array regulator of axonemal microtubules protein 2", "gene_name": "TOGARAM2", "organism": "Human", "refseq_name": "TOG array regulator of axonemal microtubules protein 2 isoform 1", "refseq_ac": "NP_954974", "gene_names_uniprotkb": "TOGARAM2; FAM179A", "gene_names_refseq": "FAM179A; TOGARAM2", "protein_names_uniprotkb": "TOG array regulator of axonemal microtubules protein 2; Crescerin-2", "protein_names_refseq": "TOG array regulator of axonemal microtubules protein 2 isoform 1; TOG array regulator of axonemal microtubules protein 2; crescerin-2; family with sequence similarity 179 member A; protein FAM179A", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340)", "pathway": " (hsa:165186)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;24715725;28904123;29493099;29557506;32387766;33968037;35051231;36215666;36284347;38374469", "class_list": "", "function": "Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2., [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": 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": "Q6ZUF5", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005929 cilium;GO:0005881 cytoplasmic microtubule", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6ZUX3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86UB9-1", "uniprot_id": "TM135_HUMAN", "mass": 52291.0, "length": 458, "protein_name": "Transmembrane protein 135", "gene_name": "TMEM135", "organism": "Human", "refseq_name": "transmembrane protein 135 isoform 2", "refseq_ac": "NP_001162195", "gene_names_uniprotkb": "TMEM135", "gene_names_refseq": "PMP52; TMEM135", "protein_names_uniprotkb": "Transmembrane protein 135; PMP52; Peroxisomal membrane protein 52", "protein_names_refseq": "peroxisomal membrane protein 52; peroxisomal protein 52; transmembrane protein 135 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:65084)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;18637193;23481700;25418920;25576301;25892735;26154972;26811146;26992070;27920218;28063628;28218747;28228285;28834231;28904123;29242379;29393594;29437277;29493099;29632046;29769354;29786170;30315122;30410026;30524438;30620550;31217245;31844290;31848261;32157776;32161166;32387766;32938616;33298915;33392160;33968037;33981976;34357683;35154160;35947339;36241641", "class_list": "", "function": "Involved in mitochondrial metabolism by regulating the balance between mitochondrial fusion and fission. May act as a regulator of mitochondrial fission that promotes DNM1L-dependent fission through activation of DNM1L. May be involved in peroxisome organization., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; MiR-100-5p inhibits osteogenic differentiation of human bone mesenchymal stromal cells by targeting TMEM135., [RefSeq, PubMed]; TMEM135 regulates primary ciliogenesis through modulation of intracellular cholesterol distribution., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q6AW91;Q8ND01;Q9H6M3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005811 lipid droplet;GO:0031966 mitochondrial membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0090140 regulation of mitochondrial fission;GO:0006633 fatty acid biosynthetic process;GO:0007031 peroxisome organization", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q86UB9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86UU9-1", "uniprot_id": "TKN4_HUMAN", "mass": 12305.0, "length": 113, "protein_name": "Tachykinin-4", "gene_name": "TAC4", "organism": "Human", "refseq_name": "tachykinin-4 isoform beta precursor", "refseq_ac": "NP_001070971", "gene_names_uniprotkb": "TAC4", "gene_names_refseq": "EK; HK-1; PPT-C; TAC4", "protein_names_uniprotkb": "Tachykinin-4; PPT-C; Preprotachykinin-C", "protein_names_refseq": "endokinin; preprotachykinin-C; tachykinin 4 (hemokinin); tachykinin-4 isoform beta precursor; tachykinin-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:255061)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "12383518;12716968;12788812;17101218;17437961;17655832;27456549;27458061;32600668;34090787", "class_list": "", "function": "Expression substance P/neurokinin A/hemokinin-1 and their preferred neurokinin 1/neurokinin 2 receptors are dysregulated in uterine leiomyomata., [RefSeq, PubMed]; Hemokinin-1 and substance P stimulate production of inflammatory cytokines and chemokines in human colonic mucosa via both NK1 and NK2 tachykinin receptors., [RefSeq, PubMed]; Kinase activation led to increased MMP-2 and MT1-MMP expression and melanoma cell migration induced by hHK-1. Thus, hHK-1 and the NK1 receptor are critical to melanoma cell migration and each may be a promising chemotherapeutic target, [RefSeq, PubMed]; Serum level of hemokinin-1 is significantly lower in patients with chronic spontaneous urticaria than in healthy subjects., [RefSeq, PubMed]; Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles. Endokinin-A induces thermal hyperalgesia and pain-related behavior such as scratching following intrathecal administration in rats. These effects are suppressed by treatment with endokinin-C. Endokinin-A/B reduces arterial blood pressure and increases sperm motility., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene is a member of the tachykinin family of neurotransmitter-encoding genes. Tachykinin proteins are cleaved into small, secreted peptides that activate members of a family of receptor proteins. The products of this gene preferentially activate tachykinin receptor 1, and are thought to regulate peripheral endocrine and paracrine functions including blood pressure, the immune system, and endocrine gland secretion. The products of this gene lack a dibasic cleavage site found in other tachykinin proteins. Consequently, the nature of the cleavage products generated in vivo remains to be determined. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q2M2P1;Q6ECK8;Q86UU6;Q86UU7;Q86UU8;Q8IWZ7", "ec_number_list": "", "go_molecular_function": "GO:0031835 substance P receptor binding;GO:0031837 substance K receptor binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:1904057 negative regulation of sensory perception of pain;GO:0006954 inflammatory response;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0008217 regulation of blood pressure;GO:0050965 detection of temperature stimulus involved in sensory perception of pain", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q86UU9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86X19-1", "uniprot_id": "TMM17_HUMAN", "mass": 23046.0, "length": 198, "protein_name": "Transmembrane protein 17", "gene_name": "TMEM17", "organism": "Human", "refseq_name": "transmembrane protein 17", "refseq_ac": "NP_938017", "gene_names_uniprotkb": "TMEM17", "gene_names_refseq": "TMEM17", "protein_names_uniprotkb": "Transmembrane protein 17", "protein_names_refseq": "transmembrane protein 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:200728)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1101/2023.09.13.557529;26982032;29769354;30459171;30833945;31154438;31844290;32938616;33968037;34171305;35051231;36010968;39206901;39894887", "class_list": "", "function": "TMEM17 Promotes Tumor Progression in Glioblastoma by Activating the PI3K/AKT Pathway., [RefSeq, PubMed]; Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)., [UniProtKB]", "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": 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": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q53QP7;Q53R98", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0036038 MKS complex;GO:0060170 ciliary membrane;GO:0035869 ciliary transition zone", "go_biological_process": "GO:0060271 cilium assembly;GO:0007224 smoothened signaling pathway;GO:1905515 non-motile cilium assembly;GO:1904491 protein localization to ciliary transition zone", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q86X19-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IU80-4", "uniprot_id": "TMPS6_HUMAN", "mass": 90000.0, "length": 811, "protein_name": "Transmembrane protease serine 6", "gene_name": "TMPRSS6", "organism": "Human", "refseq_name": "transmembrane protease serine 6 isoform 1", "refseq_ac": "NP_001275929", "gene_names_uniprotkb": "TMPRSS6; PRO618", "gene_names_refseq": "IRIDA; MT2; TMPRSS6", "protein_names_uniprotkb": "Transmembrane protease serine 6; 3.4.21.-; Matriptase-2", "protein_names_refseq": "membrane-bound mosaic serine proteinase matriptase-2; transmembrane protease serine 6 isoform 1; transmembrane protease, serine 6; type II transmembrane serine protease 6", "tax_id": 9606, "disease": "microcytic anemia (Disease Ontology:DOID:11252)", "pathway": " (hsa:164656); (R-HSA-1442490); (R-HSA-1474228)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10049780;10229672;10386589;10551873;10706100;10809722;10986281;11013208;11119712;11375993;11577169;11872628;11927537;12149247;12579531;12727852;12784999;12843408;12975309;14973287;15005656;15234972;15257288;15591058;15950618;15958533;16133547;1649600;16533768;16631740;16825197;16825321;16959974;1698775;1704217;1707285;17088321;17332331;17354228;17608959;17981570;18408718;18434311;18603562;18622425;18658137;18976966;19010778;19357398;19571574;19592582;19657146;19708871;19714641;19747362;19818657;2005102;20142769;20232450;20518742;20704562;21030783;21297635;21441952;21593211;21618415;21643693;21670566;2169335;21784848;21864727;21935455;22159414;22241472;22382088;2253219;22581667;23035980;23481700;23845380;24190977;25156943;2537292;2548603;2551898;25588876;2834383;2845110;3038863;3223920;32938616;35051231;38072851;38252872;38309700;38341535;38977031;6258630;6270089;6694361;7075587;7547873;7890717;8226919;8463259;8576151;8626565;8920930;8999957;9065415;9092507;9115292;9148753;9461298;9651395;9852107", "class_list": "", "function": "A functional interplay between the two BMP-SMAD pathway inhibitors TMPRSS6 and FKBP12 regulates hepcidin expression in vivo., [RefSeq, PubMed]; Membrane-bound serine protease (PubMed:18976966, PubMed:20518742, PubMed:25156943, PubMed:25588876). Through the cleavage of cell surface hemojuvelin (HJV), a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis (PubMed:18408718, PubMed:18976966, PubMed:25156943)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Novel TMPRSS6 variants and their impact on iron-refractory iron deficiency anaemia in pregnancy: A North Indian genotype phenotype study., [RefSeq, PubMed]; Possible effect of OAS1 and TMPRSS6 but not DPP4 and ZNF335 polymorphisms on COVID-19 severity in the Czech population., [RefSeq, PubMed]; Single Nucleotide Polymorphisms in TMPRSS6 is associated with breast cancer GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study). Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]; The role of TMPRSS6 gene polymorphism in iron resistance iron deficiency anaemia (IRIDA): a systematic review., [RefSeq, 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": 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": 2, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B0QYB4;B0QYB7;B0QYB8;Q5TI06;Q6ICC2;Q6UXD8;Q8IUE2;Q8IXV8", "ec_number_list": "3.4.24.80;3.4.21.-", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0016485 protein processing;GO:0022617 extracellular matrix disassembly;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006879 intracellular iron ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q8IU80-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IY95-1", "uniprot_id": "TM192_HUMAN", "mass": 30922.0, "length": 271, "protein_name": "Transmembrane protein 192", "gene_name": "TMEM192", "organism": "Human", "refseq_name": "transmembrane protein 192", "refseq_ac": "NP_001093859", "gene_names_uniprotkb": "TMEM192", "gene_names_refseq": "TMEM192", "protein_names_uniprotkb": "Transmembrane protein 192", "protein_names_refseq": "transmembrane protein 192", "tax_id": 9606, "disease": "", "pathway": " (hsa:201931)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;17525332;17897319;19690332;20370317;22736246;23186163;24275569;25502872;25892735;27989102;28218747;28467828;28904123;29242379;29314611;29317506;29393594;29437277;29632711;30429286;31217245;32157095;32350084;32387766;32488085;32983136;33592498;33936100;33968037;34357683;35051231;35154160;35251023;35705054;36010968", "class_list": "", "function": "Authors found that transmembrane protein 192 (TMEM192) interacted with TIG1. Authors also found that both TIG1A and TIG1B isoforms interacted and co-localized with TMEM192 in HtTA cervical cancer cells. The expression of TIG1 induced the expression of autophagy-related proteins., [RefSeq, PubMed]; TMEM192 deficiency can induce autophagy in tumor cells, and can further activate apoptosis by the mitochondrial pathway through autophagy., [RefSeq, PubMed]; TMEM192 was found to be strongly expressed in human kidney, liver, lung and pancreas tissue. The widespread tissue distribution could suggest an important role of TMEM192 for lysosomal function., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z3A1;Q8N928", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005768 endosome;GO:0048471 perinuclear region of cytoplasm;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0005770 late endosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8IY95-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N6L7-1", "uniprot_id": "TM252_HUMAN", "mass": 18703.0, "length": 170, "protein_name": "Transmembrane protein 252", "gene_name": "TMEM252", "organism": "Human", "refseq_name": "transmembrane protein 252", "refseq_ac": "NP_694969", "gene_names_uniprotkb": "TMEM252; C9orf71", "gene_names_refseq": "C9orf71; TMEM252", "protein_names_uniprotkb": "Transmembrane protein 252", "protein_names_refseq": "transmembrane protein 252; transmembrane protein C9orf71", "tax_id": 9606, "disease": "", "pathway": " (hsa:169693)", "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": 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": 0.1, "record_id": "Q8N6L7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NCS4-1", "uniprot_id": "TM35B_HUMAN", "mass": 16885.0, "length": 154, "protein_name": "Transmembrane protein 35B", "gene_name": "TMEM35B", "organism": "Human", "refseq_name": "transmembrane protein 35B precursor", "refseq_ac": "NP_001182085", "gene_names_uniprotkb": "TMEM35B; ZMYM6NB", "gene_names_refseq": "TMEM35B; ZMYM6NB", "protein_names_uniprotkb": "Transmembrane protein 35B; ZMYM6 neighbor protein", "protein_names_refseq": "ZMYM6 neighbor protein; transmembrane protein 35B precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:100506144)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "23481700;23783831;25418920;25645385;25892735;26154972;26992070;27600516;27726376;27862975;27920218;28228285;28832583;28834231;29242379;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30833945;31154438;31530632;31844290;31848261;32157095;32502341;32897882;32938616;32983136;33091337;33298915;33592498;33633747;33717175;33912179;33968037;34171305;34561969;34932366;35051231;35318648;35580925;36010968;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q8NCS4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WTV1-1", "uniprot_id": "THAP3_HUMAN", "mass": 27059.0, "length": 239, "protein_name": "THAP domain-containing protein 3", "gene_name": "THAP3", "organism": "Human", "refseq_name": "THAP domain-containing protein 3 isoform 1", "refseq_ac": "NP_001182681", "gene_names_uniprotkb": "THAP3", "gene_names_refseq": "THAP3", "protein_names_uniprotkb": "THAP domain-containing protein 3", "protein_names_refseq": "THAP domain containing, apoptosis associated protein 3; THAP domain-containing protein 3 isoform 1; THAP domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:90326)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;20200153;22645359;23186163;25418920;26024233;26811146;26929215;28063628;28904123;29242379;29393594;29493099;29557506;29632046;30379171;31844290;32938616;33298915;33633747;34509645;35251023;35580925;38664231", "class_list": "", "function": "Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1., [UniProtKB, PubMed]; THAP3 recruits SMYD3 to OXPHOS genes and epigenetically promotes mitochondrial respiration 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q569K1;Q5TH66;Q5TH67;Q8N8T6;Q9BSC7;Q9Y3H2;Q9Y3H3", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8WTV1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WY91-1", "uniprot_id": "THAP4_HUMAN", "mass": 62890.0, "length": 577, "protein_name": "Peroxynitrite isomerase THAP4", "gene_name": "THAP4", "organism": "Human", "refseq_name": "peroxynitrite isomerase THAP4 isoform 2", "refseq_ac": "NP_001157828", "gene_names_uniprotkb": "THAP4; CGI-36; PP238", "gene_names_refseq": "CGI-36; Nb(III); PP238; THAP4", "protein_names_uniprotkb": "Peroxynitrite isomerase THAP4; 5.99.-.-; Ferric Homo sapiens nitrobindin; Hs-Nb(III); THAP domain-containing protein 4", "protein_names_refseq": "THAP domain-containing protein 4; epididymis secretory sperm binding protein; ferric Homo sapiens nitrobindin; hs-Nb(III); nitrobindin; peroxynitrite isomerase THAP4 isoform 2; peroxynitrite isomerase THAP4", "tax_id": 9606, "disease": "", "pathway": " (hsa:51078)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;15498874;17525332;21387410;22645359;22898188;23186163;23481700;25418920;25576301;25880248;26992070;27600516;27846572;27920218;28063628;28218747;28514659;28832583;28904123;29242379;29393594;29557506;29632046;29786170;29789417;30410026;30429286;30524950;31844290;32157095;32265295;32295384;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33912179;33968037;34087483;34171305;34509645;35051231;35494241;35580925;36010968", "class_list": "", "function": "Heme-binding protein able to scavenge peroxynitrite and to protect free L-tyrosine against peroxynitrite-mediated nitration, by acting as a peroxynitrite isomerase that converts peroxynitrite to nitrate. Therefore, this protein likely plays a role in peroxynitrite sensing and in the detoxification of reactive nitrogen and oxygen species (RNS and ROS, respectively). Is able to bind nitric oxide (NO) in vitro, but may act as a sensor of peroxynitrite levels in vivo, possibly modulating the transcriptional activity residing in the N-terminal region., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 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": "Q53NU7;Q6GRN0;Q6IPJ3;Q9NW26;Q9Y325", "ec_number_list": "5.99.-.-", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0020037 heme binding;GO:0070026 nitric oxide binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0042126 nitrate metabolic process;GO:0006570 tyrosine metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q8WY91-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92664-1", "uniprot_id": "TF3A_HUMAN", "mass": 41515.0, "length": 365, "protein_name": "Transcription factor IIIA", "gene_name": "GTF3A", "organism": "Human", "refseq_name": "transcription factor IIIA", "refseq_ac": "NP_002088", "gene_names_uniprotkb": "GTF3A", "gene_names_refseq": "AP2; GTF3A; TFIIIA", "protein_names_uniprotkb": "Transcription factor IIIA; TFIIIA", "protein_names_refseq": "transcription factor IIIA", "tax_id": 9606, "disease": "", "pathway": " (hsa:2971); (R-HSA-749476); (R-HSA-76061)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "11237011;19413330;1946469;23481700;2404611;24120868;24715725;25576301;26992070;27600516;27862975;28832583;28834231;29242379;29632046;29786170;31844290;31848261;32357974;32387766;32938616;33298915;33912179;33925358;34509645;35051231;35580925;7568218;7622052;7789179;7995525;8063702;8407894;8423814;9171375;9312031", "class_list": "", "function": "Comprehensive Analysis of Prognostic and Genetic Signatures for General Transcription Factor III (GTF3) in Clinical Colorectal Cancer Patients Using Bioinformatics Approaches. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in ribosomal large subunit biogenesis. Binds the approximately 50 base pairs internal control region (ICR) of 5S ribosomal RNA genes. It is required for their RNA polymerase III-dependent transcription and may also maintain the transcription of other genes (PubMed:24120868). Also binds the transcribed 5S RNA's (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [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": 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": "B7ZBK5;Q12963;Q13097", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0008097 5S rRNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0042273 ribosomal large subunit biogenesis;GO:0009303 rRNA transcription;GO:0006383 transcription by RNA polymerase III;GO:0006351 DNA-templated transcription;GO:0042254 ribosome biogenesis", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q92664-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PF1-1", "uniprot_id": "TGM7_HUMAN", "mass": 79941.0, "length": 710, "protein_name": "Protein-glutamine gamma-glutamyltransferase Z", "gene_name": "TGM7", "organism": "Human", "refseq_name": "protein-glutamine gamma-glutamyltransferase Z", "refseq_ac": "NP_443187", "gene_names_uniprotkb": "TGM7", "gene_names_refseq": "TGM7; TGMZ", "protein_names_uniprotkb": "Protein-glutamine gamma-glutamyltransferase Z; 2.3.2.13; TG(Z); TGZ; TGase Z; TGase-7; Transglutaminase Z; Transglutaminase-7", "protein_names_refseq": "TG(Z); TGZ; TGase Z; TGase-7; protein-glutamine gamma-glutamyltransferase Z; transglutaminase Z", "tax_id": 9606, "disease": "", "pathway": " (hsa:116179)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11390390;23876241;25576301;29393594;31844290;32938616;35051231;35580925", "class_list": "", "function": "Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins., [UniProtKB]; Then, using the most efficient peptide, Z3S, we established an in vitro assay system to assess enzymatic activity of TG7., [RefSeq, PubMed]; Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[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": 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": "2.3.2.13;3.4.-.-;2.3.1.-;3.5.1.44", "go_molecular_function": "GO:0046872 metal ion binding;GO:0003810 protein-glutamine gamma-glutamyltransferase activity", "go_cellular_component": "", "go_biological_process": "GO:0018149 peptide cross-linking", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96PF1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96SK2-1", "uniprot_id": "TM209_HUMAN", "mass": 62922.0, "length": 561, "protein_name": "Transmembrane protein 209", "gene_name": "TMEM209", "organism": "Human", "refseq_name": "transmembrane protein 209 isoform 2", "refseq_ac": "NP_001288092", "gene_names_uniprotkb": "TMEM209", "gene_names_refseq": "NET31; TMEM209", "protein_names_uniprotkb": "Transmembrane protein 209", "protein_names_refseq": "testicular tissue protein Li 202; transmembrane protein 209 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84928)", "pathway_count": 1, "publication_count": 88, "publication_id_list": "11237011;17074750;18669648;18691976;19651622;20068231;21209280;22424782;22544926;22645359;22719065;23186163;23481700;24715725;25576301;25645385;25802875;25880248;26154972;26375851;26992070;27600516;27862975;27920218;28218747;28228285;28514659;28832583;28834231;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30524438;30779550;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34405274;34509645;34561969;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38253038;40596516", "class_list": "", "function": "Findings indicate that TMEM209 overexpression and TMEM209-NUP205 interaction are critical drivers of lung cancer proliferation., [RefSeq, PubMed]; Nuclear envelope protein which in association with NUP205, may be involved in nuclear transport of various nuclear proteins in addition to MYC., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 0, "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": "A4D1L1;Q49A50;Q6PF00;Q8NCH3;Q96SL6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q96SK2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BTD3-1", "uniprot_id": "TM121_HUMAN", "mass": 35814.0, "length": 319, "protein_name": "Transmembrane protein 121", "gene_name": "TMEM121", "organism": "Human", "refseq_name": "transmembrane protein 121", "refseq_ac": "NP_001318167", "gene_names_uniprotkb": "TMEM121; HHOLE", "gene_names_refseq": "TMEM121A; TMEM121; hhole; hole", "protein_names_uniprotkb": "Transmembrane protein 121", "protein_names_refseq": "transmembrane protein 121A; transmembrane protein 121", "tax_id": 9606, "disease": "", "pathway": " (hsa:80757)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "15950185;20714865;25645385;26992070;27211802;27846572;28832583;28834231;29557506;31154438;32502341;33968037", "class_list": "", "function": "HHole as a novel repressor of cardiac hypertrophy., [RefSeq, PubMed]; May play a role in MAPK signaling., [UniProtKB, PubMed]; There is an insertion-deletion (GCC/-) of SNP rs10569304 in the Southern Chinese people. People with the BB genotype are at greater risk of congenital heart disease. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BTD3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BU02-1", "uniprot_id": "THTPA_HUMAN", "mass": 25566.0, "length": 230, "protein_name": "Thiamine-triphosphatase", "gene_name": "THTPA", "organism": "Human", "refseq_name": "thiamine-triphosphatase isoform 1", "refseq_ac": "NP_001119811", "gene_names_uniprotkb": "THTPA", "gene_names_refseq": "THTPASE; THTPA; THTP", "protein_names_uniprotkb": "Thiamine-triphosphatase; 3.6.1.28; ThTPase", "protein_names_refseq": "thiamine-triphosphatase isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79178); (R-HSA-196819)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10391221;10391222;10391223;11237011;11342111;11342117;11827967;14615284;15109578;16371350;16705148;16790503;18280798;20583149;22223895;23481700;23707715;26154972;28228285;28832583;29557506;30315122;30429286;30833945;31530632;31844290;31848261;32157095;32488085;32502341;32938616;33141586;33968037;35580925;36010968;36284347", "class_list": "", "function": "Hydrolase highly specific for thiamine triphosphate (ThTP)., [UniProtKB, PubMed, PubMed]; The untagged recombinant human ThTPase (hThTPase) was expressed in E. coli and purified to homogeneity., [RefSeq, PubMed]; This gene encodes an enzyme which catalyzes the biosynthesis of thiamine disphophate (vitamin B1) by hydrolysis of thiamine triphosphate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 9, "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": "D3DS50;G3V4J3", "ec_number_list": "3.6.1.28", "go_molecular_function": "GO:0050333 thiamine triphosphate phosphatase activity;GO:0000287 magnesium ion binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0016311 dephosphorylation;GO:0042357 thiamine diphosphate metabolic process;GO:0006091 generation of precursor metabolites and energy;GO:0009229 thiamine diphosphate biosynthetic process;GO:0006772 thiamine metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9BU02-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZN2-1", "uniprot_id": "TGIF2_HUMAN", "mass": 25878.0, "length": 237, "protein_name": "Homeobox protein TGIF2", "gene_name": "TGIF2", "organism": "Human", "refseq_name": "homeobox protein TGIF2", "refseq_ac": "NP_001186442", "gene_names_uniprotkb": "TGIF2", "gene_names_refseq": "TGIF2", "protein_names_uniprotkb": "Homeobox protein TGIF2; 5'-TG-3'-interacting factor 2; TGF-beta-induced transcription factor 2; TGFB-induced factor 2", "protein_names_refseq": "5'-TG-3' interacting factor 2; TGF(beta)-induced transcription factor 2; TGFB-induced factor 2 (TALE family homeobox); homeobox protein TGIF2; transcription growth factor-beta-induced factor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:60436); (R-HSA-2173795); (R-HSA-2173796); (R-HSA-9764725)", "pathway_count": 4, "publication_count": 107, "publication_id_list": "10022869;10197981;10199400;10485843;10531062;10535941;10549282;10587642;10587654;10655587;11006116;11007770;11013220;11237011;11274402;11389444;11424093;11427533;11912130;12150994;12446674;12700765;12917425;14657019;15100235;15150273;15542832;15820681;16156666;16278212;16319104;16751101;16751102;17130829;17438144;17510063;17591695;17592128;18568018;19135894;19651622;19914168;19917253;20068231;20418909;20595680;20871592;21095583;22045334;22158034;22275377;23466526;24715725;25418920;25505266;25576301;25645385;25728771;26154972;26212009;26375851;27153775;27846572;27862975;27920218;28446606;28832583;29242379;29508533;29557506;29577978;29632711;29729076;29786170;30315122;30379171;30429286;30898548;31092671;31530632;31844290;31848261;31936902;31937595;32157095;32161166;32502341;32709240;32897882;32983136;33141586;33298915;33392160;33608512;33714261;33936100;34211107;34471941;34741437;35008676;35051231;35138000;35154160;35292107;35580925;35851744;36647029", "class_list": "", "function": "Circ-RNF13, as an oncogene, regulates malignant progression of HBV-associated hepatocellular carcinoma cells and HBV infection through ceRNA pathway of circ-RNF13/miR-424-5p/TGIF2. Publication Status: Online-Only, [RefSeq, PubMed]; Circular RNA circCPA4 promotes tumorigenesis by regulating miR-214-3p/TGIF2 in lung cancer., [RefSeq, PubMed]; Circular RNA circMMP1 Contributes to the Progression of Glioma Through Regulating TGIF2 Expression by Sponging miR-195-5p., [RefSeq, PubMed]; MiR-541 serves as a prognostic biomarker of osteosarcoma and its regulatory effect on tumor cell proliferation, migration and invasion by targeting TGIF2. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphorylation of TGIF2 represents a therapeutic target that drives EMT and metastasis of lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a DNA-binding homeobox protein and a transcriptional repressor, which appears to repress transcription by recruiting histone deacetylases to TGF beta-responsive genes. This gene is amplified and over-expressed in some ovarian cancers. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. Read-through transcription also exists between this gene and the neighboring downstream C20orf24 (chromosome 20 open reading frame 24) gene. [provided by RefSeq, Dec 2010]., [RefSeq]; Transcriptional repressor, which probably repress transcription by binding directly the 5'-CTGTCAA-3' DNA sequence or by interacting with TGF-beta activated SMAD proteins. Probably represses transcription via the recruitment of histone deacetylase proteins., [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": 6, "reported_mutagensis": 2, "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": "B2R9U3;E1P5T9;H0YNI0", "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:1990837 sequence-specific double-stranded 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:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q9GZN2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2L4-1", "uniprot_id": "TMM60_HUMAN", "mass": 15500.0, "length": 133, "protein_name": "Transmembrane protein 60", "gene_name": "TMEM60", "organism": "Human", "refseq_name": "transmembrane protein 60", "refseq_ac": "NP_116325", "gene_names_uniprotkb": "TMEM60; C7orf35; DC32", "gene_names_refseq": "C7orf35; DC32; TMEM60", "protein_names_uniprotkb": "Transmembrane protein 60", "protein_names_refseq": "transmembrane protein 60", "tax_id": 9606, "disease": "", "pathway": " (hsa:85025)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "20383146;28218747;28904123;29242379;29437277;30315122;30410026;31844290;32387766;32488085;32938616;33592498;33968037;34087483;34509645;36010968;36215666", "class_list": "", "function": "Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D1C3;Q86UM0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9H2L4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H330-2", "uniprot_id": "TM245_HUMAN", "mass": 97357.0, "length": 879, "protein_name": "Transmembrane protein 245", "gene_name": "TMEM245", "organism": "Human", "refseq_name": "transmembrane protein 245 isoform 1", "refseq_ac": "NP_114401", "gene_names_uniprotkb": "TMEM245; C9orf5", "gene_names_refseq": "C9orf5; CG-2; CG2; TMEM245", "protein_names_uniprotkb": "Transmembrane protein 245; Protein CG-2", "protein_names_refseq": "protein CG-2; transmembrane protein 245 isoform 1; transmembrane protein C9orf5", "tax_id": 9606, "disease": "", "pathway": " (hsa:23731)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "10.1101/2023.09.13.557529;10564813;17081983;18088087;18578522;18669648;18691976;19159218;19651622;20068231;20166139;23186163;23382809;23481700;24190977;24275569;24715725;25880248;26811146;26992070;27600516;27920218;28228285;28514659;28832583;28904123;29242379;29331515;29393594;29557506;29632046;29741879;29786170;30059200;30315122;30410026;31844290;32157095;32265295;32357974;32938616;33141586;33298915;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34211107;35051231;35254053;36010968;36241641;37074911;40307207;40596516", "class_list": "", "function": "We detected five SNPs in the first two genes/loci - BCL9 and C9orf5 - strongly associated with negative symptoms of schizophrenia, [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": 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4DSW7;Q5JTQ5;Q5SS43;Q6ZME3;Q8NDJ5;Q96CG6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9H330-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NS62-1", "uniprot_id": "THSD1_HUMAN", "mass": 94584.0, "length": 852, "protein_name": "Thrombospondin type-1 domain-containing protein 1", "gene_name": "THSD1", "organism": "Human", "refseq_name": "thrombospondin type-1 domain-containing protein 1 isoform 1 precursor", "refseq_ac": "NP_061146", "gene_names_uniprotkb": "THSD1; PRO9769; TMTSP", "gene_names_refseq": "ANIB12; LMPHM13; THSD1; TMTSP; UNQ3010", "protein_names_uniprotkb": "Thrombospondin type-1 domain-containing protein 1; Transmembrane molecule with thrombospondin module", "protein_names_refseq": "4833423O18Rik; thrombospondin type-1 domain-containing protein 1 isoform 1 precursor; thrombospondin type-1 domain-containing protein 1; thrombospondin, type I, domain containing 1; transmembrane molecule with thrombospondin module", "tax_id": 9606, "disease": "hereditary lymphedema (Disease Ontology:DOID:0050580); intracranial berry aneurysm 12 (Disease Ontology:DOID:0080975); lymphatic malformation 13 (MONDO:MONDO:0859379)", "pathway": " (hsa:55901); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 25, "publication_id_list": "11067851;12975309;15371459;16464858;17047544;18720094;19796186;22588082;23889335;25544610;26036949;27895300;29069646;29351928;29557506;29786170;30055085;30429286;30459171;32938616;33569873;35051231;35580925;36284347;38396816", "class_list": "", "function": "Is a positive regulator of nascent focal adhesion assembly, involved in the modulation of endothelial cell attachment to the extracellular matrix., [UniProtKB, PubMed, PubMed]; Manifestations of thrombospondin type-1 domain-containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis., [RefSeq, PubMed]; THSD1 Suppresses Autophagy-Mediated Focal Adhesion Turnover by Modulating the FAK-Beclin 1 Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; THSD1 forms a multimeric protein complex with FAK/talin/vinculin, wherein THSD1 promotes talin binding to FAK but not to vinculin, a key step in nascent adhesion assembly., [RefSeq, PubMed]; THSD1 mutation associated with Intracranial Aneurysm and Subarachnoid Hemorrhage. Erratum:[Stroke. 2017 Aug;48(8):e240. doi: 10.1161/STR.0000000000000139. PMID: 28739885], [RefSeq, PubMed]; The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]., [RefSeq]; The strong immunolocalization of thrombospondin (TSP) in the outer anulus of the intervertebral disc indicates a role for TSP in the avascular status of the adult human disc., [RefSeq, PubMed]; Thrombospondin has a role in inducing RhoA inactivation through FAK-dependent signaling to stimulate focal adhesion disassembly, [RefSeq, PubMed]; We report the novel truncating THSD1 variant, and describe new clinical features that have not been reported previously thus expanding the phenotype associate with loss-of-function mutations in THSD1 causing NIHF., [RefSeq, PubMed]", "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": 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": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A2A3J3;B2RCF5;Q6P3U1;Q6UXZ2", "ec_number_list": "", "go_molecular_function": "GO:0050840 extracellular matrix binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005768 endosome;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0010008 endosome membrane", "go_biological_process": "GO:0048041 focal adhesion assembly", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9NS62-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P016-1", "uniprot_id": "THYN1_HUMAN", "mass": 25697.0, "length": 225, "protein_name": "Thymocyte nuclear protein 1", "gene_name": "THYN1", "organism": "Human", "refseq_name": "thymocyte nuclear protein 1 isoform 2", "refseq_ac": "NP_001032381", "gene_names_uniprotkb": "THYN1; HSPC144; MDS012; My0054; THY28", "gene_names_refseq": "HSPC144; MDS012; MY105; THY28KD; THY28; THYN1", "protein_names_uniprotkb": "Thymocyte nuclear protein 1; Thymocyte protein Thy28", "protein_names_refseq": "thymocyte nuclear protein 1 isoform 2; thymocyte protein thy28", "tax_id": 9606, "disease": "", "pathway": " (hsa:29087)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "12384300;15939300;19237743;25418920;25810538;26992070;27846572;28063628;28218747;28510447;28514659;28832583;29242379;29351928;29437277;29557506;29632046;30315122;30429286;31154438;31844290;31848261;31937595;31998317;32157095;32350084;32387766;33298915;33392160;33633747;33912179;33968037;34019948;34509645;34932366;35051231;35083852;35251023;35318648;35580925;37938771;40596516", "class_list": "", "function": "HSPC144 was expressed and purified, and a stable fragment (residues 44-225) was identified by limited proteolysis method., [RefSeq, PubMed]; Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC., [UniProtKB]; Studies of the mouse counterpart., [RefSeq, PubMed]; The 2.3A-resolution structure revealed only one 2-fold axis of rotational pseudosymmetry. A potential RNA-binding domain from human YTH-domain-containing protein 2 has the most similar 3-D fold to that of the DUF55 domain; it may be an RNA-related domain., [RefSeq, PubMed]; This gene encodes a protein that is highly conserved among vertebrates and plant species and may be involved in the induction of apoptosis. Alternatively spliced transcript variants encoding different isoforms 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q567Q2;Q9H3L4;Q9HC20", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0001650 fibrillar center", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9P016-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P0N5-1", "uniprot_id": "TM216_HUMAN", "mass": 16487.0, "length": 145, "protein_name": "Transmembrane protein 216", "gene_name": "TMEM216", "organism": "Human", "refseq_name": "transmembrane protein 216 isoform 2", "refseq_ac": "NP_001167461", "gene_names_uniprotkb": "TMEM216; HSPC244", "gene_names_refseq": "HSPC244; RP98; TMEM216", "protein_names_uniprotkb": "Transmembrane protein 216", "protein_names_refseq": "transmembrane protein 216 isoform 2", "tax_id": 9606, "disease": "Joubert syndrome (Disease Ontology:DOID:0050777); retinitis pigmentosa 98 (Disease Ontology:DOID:0061109); Meckel syndrome 2 (Disease Ontology:DOID:0070116); Joubert syndrome 2 (Disease Ontology:DOID:0110988)", "pathway": " (hsa:51259); (R-HSA-5620912)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "11237011;16357211;17574030;17646400;17719545;18037885;18694559;18801063;19004860;19081074;19940019;20036350;20230748;20308558;20399632;20512146;20558667;21273506;21422230;21548880;21565611;21620453;21725307;21792235;22179047;22282472;22425360;22433857;22653444;23141531;23141541;23253480;23348840;23400999;23530209;23747070;23769972;23789104;24053599;24089205;24231678;24469809;24982133;25047611;25313408;26595381;29769354;32161166;32502341;32938616;33968037;34087483;39191256", "class_list": "", "function": "A TMEM216 mutation may have a role in Joubert syndrome 2 (JBTS2) in Ashkenazi Jews Erratum:[Am J Hum Genet. 2010 Feb;86(2):294. Shanske, Alan L [added]], [RefSeq, PubMed]; Essential for primary ciliogenesis and embryonic development, facilitating the activation of Hedgehog (Hh) signaling pathway. Disrupts the interaction of GLI2 and GLI3 with the negative regulator SUFU. Inhibiting SUFU's interaction with GLI2 promotes the entry of GLI2 into the nucleus, allowing it to activate Hh target gene expression. Disrupting SUFU's interaction with GLI3 prevents its conversion into the repressor form, leading to increased nuclear GLI3 and enhanced Hh signaling. Required for the proper development and structural integrity of photoreceptor outer segment disks, ensuring normal outer segment morphogenesis and survival of photoreceptors., [UniProtKB, UniProtKB, UniProtKB]; Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression., [RefSeq, PubMed]; This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MZ23;B7Z8N1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005929 cilium;GO:0016020 membrane;GO:0036038 MKS complex;GO:0035869 ciliary transition zone", "go_biological_process": "GO:0045880 positive regulation of smoothened signaling pathway;GO:0045494 photoreceptor cell maintenance;GO:0060271 cilium assembly;GO:1905515 non-motile cilium assembly;GO:1904491 protein localization to ciliary transition zone", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9P0N5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2C4-2", "uniprot_id": "TM181_HUMAN", "mass": 55015.0, "length": 475, "protein_name": "Transmembrane protein 181", "gene_name": "TMEM181", "organism": "Human", "refseq_name": "transmembrane protein 181 isoform 4", "refseq_ac": "NP_001363781", "gene_names_uniprotkb": "TMEM181; GPR178; KIAA1423", "gene_names_refseq": "GPR178; KIAA1423; TMEM181", "protein_names_uniprotkb": "Transmembrane protein 181", "protein_names_refseq": "G protein-coupled receptor 178; transmembrane protein 181 isoform 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:57583)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "17081983;18691976;19965467;20068231;27090790;37938771", "class_list": "", "function": "Mediates action of cytolethal distending toxins (CDT), which are secreted by many pathogenic bacteria. Expression level of TMEM181 is rate-limiting for intoxication., [UniProtKB, PubMed]; The TMEM181 gene encodes a putative G protein-coupled receptor expressed on the cell surface (Carette et al., 2009 [PubMed 19965467]; Wollscheid et al., 2009 [PubMed 19349973]).[supplied by OMIM, Jan 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A0A804HII6;Q5VTU1", "ec_number_list": "", "go_molecular_function": "GO:0015643 toxic substance binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9P2C4-2", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NK02-1", "uniprot_id": "TRI75_HUMAN", "mass": 53678.0, "length": 468, "protein_name": "Tripartite motif-containing protein 75", "gene_name": "TRIM75", "organism": "Human", "refseq_name": "tripartite motif-containing protein 75", "refseq_ac": "NP_001382999", "gene_names_uniprotkb": "TRIM75; TRIM75P", "gene_names_refseq": "TRIM75P; TRIM75", "protein_names_uniprotkb": "Tripartite motif-containing protein 75", "protein_names_refseq": "putative tripartite motif-containing protein 75; tripartite motif containing 75, pseudogene; tripartite motif-containing protein 75 pseudogene; tripartite motif-containing protein 75", "tax_id": 9606, "disease": "", "pathway": " (hsa:391714)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "24366607;31530632;35051231;35494241;35580925", "class_list": "", "function": "May play a role in female meiosis., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 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:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005819 spindle", "go_biological_process": "GO:0007144 female meiosis I;GO:0045087 innate immune response;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NK02-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6PVC2-1", "uniprot_id": "TTLL8_HUMAN", "mass": 94676.0, "length": 850, "protein_name": "Protein monoglycylase TTLL8", "gene_name": "TTLL8", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TTLL8", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein monoglycylase TTLL8; 6.3.2.-; Tubulin--tyrosine ligase-like protein 8", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:164714); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "11237011;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;18477386;19524510;19531357;20519502;21074048;23358242;24715725;25103237;25468068;25957412;29146868;29557506;30379171;7452228", "class_list": "", "function": "Monoglycylase which modifies both tubulin and non-tubulin proteins, adding a single glycine to the gamma-carboxyl groups of specific glutamate residues to generate monoglycine side chains within the C-terminal tail of target proteins. Not involved in elongation step of the polyglycylation reaction. Preferentially monoglycylates alpha-tubulin over beta-tubulin. Together with TTLL3, mediates microtubule glycylation of primary and motile cilia, which is essential for their stability and maintenance. Together with TTLL3, glycylates sperm flagella which regulates axonemal dynein motor activity, thereby controlling flagellar beat, directional sperm swimming and male fertility. Monoglycylates non-tubulin proteins such as ANP32A, ANP32B, SET, NCL and NAP1., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B5MDV0", "ec_number_list": "3.6.5.-;6.3.2.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0070735 protein-glycine ligase activity;GO:0070736 protein-glycine ligase activity, initiating", "go_cellular_component": "GO:0005829 cytosol;GO:0005874 microtubule;GO:0005929 cilium;GO:0015630 microtubule cytoskeleton;GO:0036126 sperm flagellum", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0035082 axoneme assembly;GO:0018094 protein polyglycylation", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "A6PVC2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CI25-1", "uniprot_id": "TRI49_HUMAN", "mass": 52888.0, "length": 452, "protein_name": "Tripartite motif-containing protein 49", "gene_name": "TRIM49", "organism": "Human", "refseq_name": "tripartite motif-containing protein 49", "refseq_ac": "NP_065091", "gene_names_uniprotkb": "TRIM49; RNF18", "gene_names_refseq": "RNF18; TRIM49A; TRIM49L2; TRIM49", "protein_names_uniprotkb": "Tripartite motif-containing protein 49; RING finger protein 18; Testis-specific RING-finger protein", "protein_names_refseq": "ring finger protein 18; testis-specific RING Finger protein; testis-specific ring-finger protein; tripartite motif-containing protein 49", "tax_id": 9606, "disease": "", "pathway": " (hsa:57093)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11018261;11237011;25892735;28832583;29107100;29242379;31530632", "class_list": "", "function": "Expressed and purified human TRIM49 protein, and investigated the role of the SPRY and RING domains of human TRIM49 protein in E3 ubiquitin ligase activity., [RefSeq, PubMed]; The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This gene has been found to be preferentially expressed in testis. Related pseudogenes and gene duplicates have also been identified on chromosome 11. [provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0AVR7;A0AVR9;Q6DJV1;Q9NS80", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019901 protein kinase 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": 0.8, "record_id": "P0CI25-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15643-1", "uniprot_id": "TRIPB_HUMAN", "mass": 227586.0, "length": 1979, "protein_name": "Thyroid receptor-interacting protein 11", "gene_name": "TRIP11", "organism": "Human", "refseq_name": "thyroid receptor-interacting protein 11 isoform 1", "refseq_ac": "NP_004230", "gene_names_uniprotkb": "TRIP11; CEV14", "gene_names_refseq": "ACG1A; CEV14; GMAP-210; GMAP210; ODCD1; ODCD; TRIP-11; TRIP11; TRIP230", "protein_names_uniprotkb": "Thyroid receptor-interacting protein 11; Clonal evolution-related gene on chromosome 14 protein; GMAP-210; Golgi-associated microtubule-binding protein 210; TR-interacting protein 11; TRIP-11; Trip230", "protein_names_refseq": "Golgi-microtubule-associated protein of 210 kDa; TR-interacting protein 11; clonal evolution-related gene on chromosome 14 protein; golgi-associated microtubule-binding protein 210; thyroid receptor-interacting protein 11 isoform 1", "tax_id": 9606, "disease": "achondrogenesis (Disease Ontology:DOID:0080043); achondrogenesis type IA (Disease Ontology:DOID:0080054); congenital heart disease (Disease Ontology:DOID:1682); odontochondrodysplasia 1 (MONDO:MONDO:0100325)", "pathway": " (hsa:9321); (R-HSA-5620924); (R-HSA-6811438); (R-HSA-9703465)", "pathway_count": 4, "publication_count": 224, "publication_id_list": "10.1101/2023.09.13.557529;10069812;10189370;10469654;10652308;10652516;11027663;11237011;11285270;11718716;11748249;12011112;12383348;12429822;12468433;12795688;15003515;15231740;15269286;15489852;15498859;15504911;15523559;15718469;15728195;15758030;15955805;16049494;16435301;16492809;16761019;16775004;16782012;17081983;17268528;17274799;17312020;17314406;17574030;17764812;18086915;18180368;18192505;18256213;18304522;18364699;18369462;18451304;18669648;18691976;18707149;18852297;18987736;19112494;19147001;19164740;19253336;19345670;19384852;19413330;19438505;19450523;19536132;19651622;19664994;19690332;19715559;19720863;19805633;20068231;20089971;20163571;20435895;20526327;20526328;20530210;20874812;20889716;21072051;21262971;21427764;21705501;21807881;21936775;22013193;22118932;22188167;22438257;22544926;22922713;22992454;23091056;23103841;23168613;23186163;23239882;23378023;23462996;23481700;23839779;23936529;23940353;23945166;23990561;24119662;24140113;24296415;24596149;24616010;24714562;24854988;25205765;25349261;25418920;25443296;25473115;25576301;25645385;25708460;25717001;25880248;26308771;26375851;26716518;26728094;26768311;26992070;27600516;27666490;27717682;27795560;27846572;27862975;28028030;28218747;28510447;28514659;28649982;28751768;28832583;28834231;28904123;29025582;29242379;29393594;29437277;29493099;29507660;29508533;29557506;29769354;29786170;29880609;30315122;30370255;30379171;30429286;30524438;30559310;30728324;30833945;31066629;31154438;31217245;31222486;31359998;31844290;31848261;31903676;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33691108;33746040;33912179;33968037;33981976;34019948;34057271;34087483;34171305;34211107;34357683;34509645;34932366;35051231;35251023;35318648;35494241;35561310;35580925;36010968;36240223;36241641;36284347;37217939;7776974;8516294;8522608;8636227;8945478;9114011;9244307;9256431;9373237;9476900;9510256;9585416;9585417;9653114;9707577;9852153;9915833;9918857", "class_list": "", "function": "Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A., [RefSeq, PubMed]; Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants., [RefSeq, PubMed]; Is a membrane tether required for vesicle tethering to Golgi. Has an essential role in the maintenance of Golgi structure and function (PubMed:25473115, PubMed:30728324). It is required for efficient anterograde and retrograde trafficking in the early secretory pathway, functioning at both the ER-to-Golgi intermediate compartment (ERGIC) and Golgi complex (PubMed:25717001). Binds the ligand binding domain of the thyroid receptor (THRB) in the presence of triiodothyronine and enhances THRB-modulated transcription., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A., [RefSeq, PubMed]; This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[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": 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": 14, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RUT2;O14689;O15154;O95949;Q6MZL5", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005856 cytoskeleton;GO:0002080 acrosomal membrane;GO:0030133 transport vesicle", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006366 transcription by RNA polymerase II;GO:0090161 Golgi ribbon formation;GO:0007030 Golgi organization;GO:0051216 cartilage development", "synthesized_glycan_count": 0, "hit_score": 23.1, "record_id": "Q15643-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJK0-1", "uniprot_id": "TSR3_HUMAN", "mass": 33596.0, "length": 312, "protein_name": "18S rRNA aminocarboxypropyltransferase", "gene_name": "TSR3", "organism": "Human", "refseq_name": "18S rRNA aminocarboxypropyltransferase", "refseq_ac": "NP_001001410", "gene_names_uniprotkb": "TSR3; C16orf42; UND313L", "gene_names_refseq": "C16orf42; HsTsr3; TSR3", "protein_names_uniprotkb": "18S rRNA aminocarboxypropyltransferase; 2.5.1.157; 20S S rRNA accumulation protein 3 homolog; HsTsr3", "protein_names_refseq": "18S rRNA aminocarboxypropyltransferase; 20S S rRNA accumulation protein 3 homolog; TSR3, 20S rRNA accumulation, homolog; TSR3, acp transferase ribosome maturation factor; probable ribosome biogenesis protein C16orf42; ribosome biogenesis protein TSR3 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:115939); (R-HSA-6790901)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10606270;11081632;11237011;11935223;11978965;12417735;15199136;16381836;16782898;17636026;18452278;18669648;19033376;19463982;19651622;19690332;20047967;20112406;23391857;23481700;24086612;24715725;25411247;25418920;25525153;25576301;25653167;25851604;26085946;26154972;26196125;26375851;26758079;26811146;26992070;27084949;27397612;27846572;27920218;28063628;28514659;28832583;28904123;29242379;29393594;29557506;29632046;29786170;30315122;30429286;30779550;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32265295;32387766;32983136;33141586;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;9211966;9512526", "class_list": "", "function": "Aminocarboxypropyltransferase that catalyzes the aminocarboxypropyl transfer on pseudouridine at position 1248 (Psi1248) in 18S rRNA (Probable). It constitutes the last step in biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA (Probable)., [UniProtKB, PubMed]; Structurally, Tsr3 represents a novel class of acp transferase enzymes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q6PJT8", "ec_number_list": "2.5.1.157", "go_molecular_function": "GO:0016740 transferase activity;GO:1904047 S-adenosyl-L-methionine binding;GO:0106388 rRNA small subunit aminocarboxypropyltransferase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0000455 enzyme-directed rRNA pseudouridine synthesis;GO:0000154 rRNA modification;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9UJK0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60637-1", "uniprot_id": "TSN3_HUMAN", "mass": 28018.0, "length": 253, "protein_name": "Tetraspanin-3", "gene_name": "TSPAN3", "organism": "Human", "refseq_name": "tetraspanin-3 isoform 3", "refseq_ac": "NP_001161884", "gene_names_uniprotkb": "TSPAN3; TM4SF8", "gene_names_refseq": "TM4-A; TM4SF8; TSPAN-3; TSPAN3", "protein_names_uniprotkb": "Tetraspanin-3; Tetraspanin TM4-A; Transmembrane 4 superfamily member 8; Tspan-3", "protein_names_refseq": "tetraspan 3; tetraspan TM4SF; tetraspanin TM4-A; tetraspanin-3 isoform 3; transmembrane 4 superfamily member 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:10099)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16303743;23090970;23345538;24190977;25502872;26212080;26930362;27818272;28855257;28904123;29741879;30315122;30367526;31154438;31530632;31837329;31844290;32119511;32161166;32350084;32357974;34078123;34357683;34433824;34725712;35289036;35580925;37074911;38665916;39333841;40596516;9714763", "class_list": "", "function": "High TSPAN3 expression is associated with progression and chemoresistance in acute myeloid leukemia., [RefSeq, PubMed]; Regulates the proliferation and migration of oligodendrocytes, a process essential for normal myelination and repair., [UniProtKB, UniProtKB, UniProtKB]; Studies indicate that tetraspanin 3 has a critical role in acute myeloid leukemia. Review article, [RefSeq, PubMed]; Study concluded that miR-139-5p suppressed the leukemogenesis in acute myeloid leukemia (AML) cells by targeting Tspan3 through inactivation of the PI3K/Akt pathway, providing a better understanding of AML progression., [RefSeq, PubMed]; Tetraspanin 3 promotes NSCLC cell proliferation via regulation of beta1 integrin intracellular recycling. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Multiple alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Dec 2009]., [RefSeq]; Tspan3 is a central endocytic membrane component regulating the expression of ADAM10, presenilin and the amyloid precursor protein., [RefSeq, PubMed]; Tspan3 is an important regulator of aggressive leukemias., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 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": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 65, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NEH4;B3KQQ2;B4DP19;Q9BW22;Q9NVX9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "O60637-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75365-1", "uniprot_id": "TP4A3_HUMAN", "mass": 19535.0, "length": 173, "protein_name": "Protein tyrosine phosphatase type IVA 3", "gene_name": "PTP4A3", "organism": "Human", "refseq_name": "protein tyrosine phosphatase type IVA 3 isoform 2", "refseq_ac": "NP_009010", "gene_names_uniprotkb": "PTP4A3; PRL3", "gene_names_refseq": "PRL-3; PRL-R; PRL3; PTP4A3", "protein_names_uniprotkb": "Protein tyrosine phosphatase type IVA 3; 3.1.3.48; PRL-3; PRL-R; Protein-tyrosine phosphatase 4a3; Protein-tyrosine phosphatase of regenerating liver 3", "protein_names_refseq": "potentially prenylated protein tyrosine phosphatase; protein tyrosine phosphatase type IVA 3 isoform 2; protein tyrosine phosphatase type IVA, member 3; protein-tyrosine phosphatase of regenerating liver 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:11156)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;11355880;11598267;12235145;12516958;12782572;14704153;15135076;23691193;25892735;26811146;27846572;29393594;29557506;29632046;29769354;29786170;29789417;30315122;30429286;31154438;31844290;31848261;32157095;32387766;33717175;34482023;34630392;35051231;35098869;35580925;35817112;36284347;36336860;37074911;37938771;9633825", "class_list": "", "function": "Data suggest that the PRL-3 gene is important for colorectal cancer metastasis and provide a new therapeutic target for these intractable lesions., [RefSeq, PubMed]; PTP4A3 Is a Prognostic Biomarker Correlated With Immune Infiltrates in Papillary Renal Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis. May be involved in the progression of cardiac hypertrophy by inhibiting intracellular calcium mobilization in response to angiotensin II., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Rag GTPases suppress PRL-3 degradation and predict poor clinical diagnosis of cancer patients with low PRL-3 mRNA expression., [RefSeq, PubMed]; The Deubiquitinating Enzyme USP4 Functions as an Oncoprotein in Gastric Cancer and Mediates NF-kappaB Signaling by Regulating PRL-3 Expression., [RefSeq, PubMed]; The effects of endosulfan on cell migration and invasion in prostate cancer cells via the KCNQ1OT1/miR-137-3p/PTP4A3 axis., [RefSeq, PubMed]; The phosphatase of regenerating liver-3 protein (PRL-3) promotes glioma cell invasiveness by interacting with beta3 -tubulin., [RefSeq, PubMed]; This gene encodes a member of the protein-tyrosine phosphatase family. Protein tyrosine phosphatases are cell signaling molecules that play regulatory roles in a variety of cellular processes. Studies of this class of protein tyrosine phosphatase in mice demonstrates that they are prenylated in vivo, suggesting their association with cell plasma membrane. The encoded protein may enhance cell proliferation, and overexpression of this gene has been implicated in tumor metastasis. 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": 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": 7, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 9474, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8IVN5;Q99849;Q9BTW5", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;3.1.3.5;3.1.3.2;2.7.10.1;3.1.3.67;3.1.3.27", "go_molecular_function": "GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005886 plasma membrane", "go_biological_process": "GO:0043542 endothelial cell migration;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "O75365-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95922-1", "uniprot_id": "TTLL1_HUMAN", "mass": 48988.0, "length": 423, "protein_name": "Polyglutamylase complex subunit TTLL1", "gene_name": "TTLL1", "organism": "Human", "refseq_name": "polyglutamylase complex subunit TTLL1", "refseq_ac": "NP_036395", "gene_names_uniprotkb": "TTLL1; C22orf7", "gene_names_refseq": "C22orf7; HS323M22B; TPGS3; TTLL1", "protein_names_uniprotkb": "Polyglutamylase complex subunit TTLL1; 6.3.2.-; PGs3; Tubulin polyglutamylase TTLL1; Tubulin polyglutamylase complex subunit 3; Tubulin--tyrosine ligase-like protein 1", "protein_names_refseq": "PGs3; catalytic subunit of neural tubulin polyglutamylase; polyglutamylase complex subunit TTLL1; polyglutamylase subunit 3; probable tubulin polyglutamylase TTLL1; tubulin polyglutamylase complex subunit 3; tubulin tyrosine ligase like 1; tubulin tyrosine ligase-like family, member 1; tubulin--tyrosine ligase-like protein 1; tubulin-tyrosine ligase", "tax_id": 9606, "disease": "primary ciliary dyskinesia (Disease Ontology:DOID:9562)", "pathway": " (hsa:25809); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "11054573;11230166;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;19767753;20519502;20564319;21074048;23358242;25103237;25468068;25957412;26992070;27920218;28218747;28228285;28832583;28904123;29146868;29242379;29437277;29786170;30315122;31492838;31844290;32387766;32938616;33298915;33912179;33968037;34357683;34509645;34782749;35051231;36010968;7452228", "class_list": "", "function": "Catalytic subunit of a polyglutamylase complex which modifies tubulin, generating side chains of glutamate on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin (PubMed:34782749). Probably involved in the side-chain elongation step of the polyglutamylation reaction rather than the initiation step. Modifies both alpha- and beta-tubulins with a preference for the alpha-tail. Unlike most polyglutamylases of the tubulin--tyrosine ligase family, only displays a catalytic activity when in complex with other proteins as it is most likely lacking domains important for autonomous activity. Part of the neuronal tubulin polyglutamylase complex. Mediates cilia and flagella polyglutamylation which is essential for their biogenesis and motility. Involved in respiratory motile cilia function through the regulation of beating asymmetry. Essential for sperm flagella biogenesis, motility and male fertility. Involved in KLF4 glutamylation which impedes its ubiquitination, thereby leading to somatic cell reprogramming, pluripotency maintenance and embryogenesis., [UniProtKB, PubMed, UniProtKB]; Meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study and meta-analysis 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": 1, "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": "B2RDS7;Q9BR27;Q9NRS9;Q9UMU0", "ec_number_list": "3.6.5.-;6.3.2.-", "go_molecular_function": "GO:0070740 tubulin-glutamic acid ligase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0015631 tubulin binding;GO:0106438 protein-glutamic acid ligase activity, elongating", "go_cellular_component": "GO:0005874 microtubule;GO:0031514 motile cilium;GO:0005930 axoneme;GO:0036064 ciliary basal body", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization;GO:0018095 protein polyglutamylation;GO:0007288 sperm axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "O95922-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07951-1", "uniprot_id": "TPM2_HUMAN", "mass": 32851.0, "length": 284, "protein_name": "Tropomyosin beta chain", "gene_name": "TPM2", "organism": "Human", "refseq_name": "tropomyosin beta chain isoform Tpm2.2st", "refseq_ac": "NP_003280", "gene_names_uniprotkb": "TPM2; TMSB", "gene_names_refseq": "AMCD1; CMYO23; CMYP23; DA1; DA2B4; DA2B; HEL-S-273; NEM4; TMSB; TPM2", "protein_names_uniprotkb": "Tropomyosin beta chain; Beta-tropomyosin; Tropomyosin-2", "protein_names_refseq": "epididymis secretory protein Li 273; nemaline myopathy type 4; tropomyosin 2 (beta); tropomyosin beta chain isoform Tpm2.2st; tropomyosin beta chain", "tax_id": 9606, "disease": "distal arthrogryposis (Disease Ontology:DOID:0050646); congenital myopathy 23 (Disease Ontology:DOID:0110932); distal arthrogryposis type 1A (Disease Ontology:DOID:0111597); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:7169); (R-HSA-390522); (R-HSA-445355)", "pathway_count": 3, "publication_count": 76, "publication_id_list": "10747208;10991994;11237011;11242081;11457814;11532985;11738357;11840567;11889009;12048254;12592607;14506282;14627618;15377279;156362;17055381;17339586;17434307;17846275;18974361;19047562;1930128;19345583;19380584;19664994;2059197;22421042;22778174;2303454;23271734;23678273;23834404;24692096;24872348;2526655;25418920;25576301;26362469;2764880;27679490;28467828;28741090;29557506;29786170;29789417;30285720;30429286;31217245;31844290;32157095;32387766;32938616;33066566;33091337;3368322;33919826;34019948;34171305;34405274;35008409;35051231;35580925;36010968;37217939;3780718;37938771;38219297;3865200;38665916;39990658;40914422;8858389;9481611;9598563;9600334;9855623", "class_list": "", "function": "Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. The non-muscle isoform may have a role in agonist-mediated receptor internalization., [UniProtKB, UniProtKB, UniProtKB]; Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln(147)Pro Tropomyosin. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations Q93H and E97K in TPM2 Disrupt Ca-Dependent Regulation of Actin Filaments. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]., [RefSeq]; Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NM85;P06468;Q13894;Q53FM4;Q5TCU4;Q5TCU7;Q9UH67", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005884 actin filament;GO:0015629 actin cytoskeleton;GO:0005862 muscle thin filament tropomyosin", "go_biological_process": "GO:0006936 muscle contraction;GO:0007015 actin filament organization;GO:0043462 regulation of ATP-dependent activity", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "P07951-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CF51-1", "uniprot_id": "TRGC1_HUMAN", "mass": 19804.0, "length": 173, "protein_name": "T cell receptor gamma constant 1", "gene_name": "TRGC1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRGC1; TCRGC1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor gamma constant 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:445347)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10430935;10931945;11237011;11719440;12865322;15150260;23348415;24076636;24238509;24387714;24600447;25674089;28153567;2879283;28920588;31371409", "class_list": "", "function": "Constant region 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": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "A0A075B6Q9", "ec_number_list": "", "go_molecular_function": "GO:0036094 small molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0050852 T cell receptor signaling pathway;GO:0002250 adaptive immune response;GO:0046629 gamma-delta T cell activation", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P0CF51-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P9F5-1", "uniprot_id": "TRI40_HUMAN", "mass": 29336.0, "length": 258, "protein_name": "E3 ubiquitin ligase TRIM40", "gene_name": "TRIM40", "organism": "Human", "refseq_name": "E3 ubiquitin ligase TRIM40 isoform a", "refseq_ac": "NP_001273562", "gene_names_uniprotkb": "TRIM40; RNF35", "gene_names_refseq": "RNF35; TRIM40", "protein_names_uniprotkb": "E3 ubiquitin ligase TRIM40; 2.3.2.27; Probable E3 NEDD8-protein ligase; RING finger protein 35", "protein_names_refseq": "E3 ubiquitin ligase TRIM40 isoform a; E3 ubiquitin ligase TRIM40; RING finger protein 35; probable E3 NEDD8-protein ligase; ring finger RNF35", "tax_id": 9606, "disease": "", "pathway": " (hsa:135644)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10.1101/2023.09.13.557529;12622776;16702430;19531498;19851445;20593013;21474709;29117565;29557506;34763147;36755029;37217939;39357549", "class_list": "", "function": "E3 ubiquitin-protein ligase that plays a role in the limitation of the innate immune response (PubMed:21474709, PubMed:29117565). Mediates inhibition of the RLR signaling pathway by ubiquitinating RIGI and IFIH1 receptors, leading to their proteasomal degradation (PubMed:21474709). Also promotes the neddylation of IKBKG/NEMO, stabilizing NFKBIA, and thereby inhibiting of NF-kappa-B nuclear translocation and activation (PubMed:21474709)., [UniProtKB, PubMed, PubMed]; E3 ubiquitin-protein ligase that plays a role in the limitation of the innate immune response. Mediates inhibition of the RLR signaling pathway by ubiquitinating RIGI and IFIH1 receptors, leading to their proteasomal degradation. Also promotes the neddylation of IKBKG/NEMO, stabilizing NFKBIA, and thereby inhibiting of NF-kappa-B nuclear translocation and activation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Findings suggest that TRIM40 inhibits NF-kappaB activity via neddylation of inhibitor of nuclear factor kappaB kinase subunit gamma and that TRIM40 prevents inflammation-associated carcinogenesis in the gastrointestinal tract, [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]; TRIM40 inhibits IgA1-induced proliferation of glomerular mesangial cells by inactivating NLRP3 inflammasome through ubiquitination., [RefSeq, PubMed]; TRIM40 interacts with ROCK1 directly and inhibits colorectal cancer cell proliferation through the c-Myc/p21 axis., [RefSeq, PubMed]; TRIM40 is a pathogenic driver of inflammatory bowel disease subverting intestinal barrier integrity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the tripartite motif (TRIM) protein family. The encoded protein may play a role as a negative regulator against inflammation and carcinogenesis in the gastrointestinal tract. Alternatively spliced transcript variants that encode different protein isoforms have been described. [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5SRJ6;Q5SS36;Q8TD96", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0008385 IkappaB kinase complex", "go_biological_process": "GO:0045087 innate immune response;GO:1900181 negative regulation of protein localization to nucleus;GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:1901223 negative regulation of non-canonical NF-kappaB signal transduction;GO:0042177 negative regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q6P9F5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6XPS3-1", "uniprot_id": "TPTE2_HUMAN", "mass": 61112.0, "length": 522, "protein_name": "Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2", "gene_name": "TPTE2", "organism": "Human", "refseq_name": "phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform delta", "refseq_ac": "NP_001135440", "gene_names_uniprotkb": "TPTE2; TPIP", "gene_names_refseq": "TPIP; TPTE2", "protein_names_uniprotkb": "Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2; 3.1.3.67; Lipid phosphatase TPIP; TPTE and PTEN homologous inositol lipid phosphatase", "protein_names_refseq": "PTEN-like inositol lipid phosphatase; TPIP lipid phosphatase; TPTE and PTEN homologous inositol lipid phosphatase; lipid phosphatase TPIP; phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 isoform delta; phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2; transmembrane phosphoinositide 3-phosphatase and tensin 2-like protein", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:93492); (R-HSA-1660514)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10101268;10419465;10559940;10567352;10764818;10766823;10805725;10806194;11237011;11279162;11706043;11716755;11923287;12324459;14527956;14659893;17555535;17556371;18950639;19211563;19664994;19668216;22164291;22311048;22896666;25676706;31154438;35051231;7628435;7761412;8634694;8999962;9148941;9405935;9516481;9878262", "class_list": "", "function": "Acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate., [UniProtKB, PubMed]; Findings suggest that C2-domain of TPIP-C2 may act as a dominant negative effector, which may bind to and arrest the cell proliferation signalling complex, [RefSeq, PubMed]; Shows no phosphoinositide phosphatase activity., [UniProtKB, PubMed]; TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]., [RefSeq]; TPTE2 was originally reported to be a phosphoinositide 3'-phosphatase, like the tumor suppressor PTEN. Later on, other homologous phosphatases, such as Ci-VSP and Dr-VSP, have been described. These proteins are 5'-phosphatases. More recently, using a chimeric construct, we have shown that the catalytic domain of TPTE2 behaves as a 5'-phosphatase as well., [RefSeq, PubMed]; The TPIP splice-variant (TPIP-C2) mRNA is expressed in human and mouse tissues and strongly inhibits cell growth in HeLa cells, [RefSeq, PubMed]; The role of TPTE2 in gallbladder cancer cells Erratum:[Chem Biol Drug Des. 2018 Oct;92(4):1816. doi: 10.1111/cbdd.13401. PMID: 30267484], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 28, "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": "A1A4X0;A1A4X1;A8MX64;B1AQ16;B4DWZ2;Q5VUH2;Q8WWL4;Q8WWL5", "ec_number_list": "3.1.3.48;3.1.3.67;3.1.3.-;3.1.3.16;3.1.3.86;3.1.3.95", "go_molecular_function": "GO:0016314 phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity;GO:0051800 phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity;GO:0005216 monoatomic ion channel activity;GO:0016791 phosphatase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006661 phosphatidylinositol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q6XPS3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZTA4-3", "uniprot_id": "TRI67_HUMAN", "mass": 83823.0, "length": 783, "protein_name": "Tripartite motif-containing protein 67", "gene_name": "TRIM67", "organism": "Human", "refseq_name": "tripartite motif-containing protein 67 isoform 1", "refseq_ac": "NP_001004342", "gene_names_uniprotkb": "TRIM67; TNL", "gene_names_refseq": "TNL; TRIM67", "protein_names_uniprotkb": "Tripartite motif-containing protein 67; TRIM9-like protein", "protein_names_refseq": "TRIM9-like protein TNL; tripartite motif-containing protein 67 isoform 1; tripartite motif-containing protein 67", "tax_id": 9606, "disease": "Opitz GBBB syndrome (Disease Ontology:DOID:0080697)", "pathway": " (hsa:440730)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "16434393;24714562;25645385;26992070;28228285;28832583;29242379;29557506;31239268;31844290;33981976;35806477;38477606", "class_list": "", "function": "Loss of TRIM67 Attenuates the Progress of Obesity-Induced Non-Alcoholic Fatty Liver Disease. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM67 functions as a pivotal tumor suppressor in colorectal cancer.Epigenetic silencing of TRIM67 correlates with poor survival in patients with colorectal cancer.TRIM67 stabilizes p53 and activates p53 signaling pathway.TRIM67 is a direct target gene of p53., [RefSeq, PubMed]; TRIM67 interacts with ENAH to regulate the apoptosis and autophagy of lung 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5TER7;Q5TER8;Q7Z4K7", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton", "go_biological_process": "GO:0032880 regulation of protein localization", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q6ZTA4-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZTW0-1", "uniprot_id": "TPGS1_HUMAN", "mass": 31275.0, "length": 290, "protein_name": "Tubulin polyglutamylase complex subunit 1", "gene_name": "TPGS1", "organism": "Human", "refseq_name": "tubulin polyglutamylase complex subunit 1", "refseq_ac": "NP_277048", "gene_names_uniprotkb": "TPGS1; C19orf20", "gene_names_refseq": "C19orf20; GTRGEO22; PGs1; TPGS1", "protein_names_uniprotkb": "Tubulin polyglutamylase complex subunit 1; PGs1", "protein_names_refseq": "gene trap ROSA b-geo 22; polyglutamylase subunit 1; tubulin polyglutamylase complex subunit 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:91978); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "12972506;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20519502;21074048;23186163;23358242;24366607;24715725;25103237;25418920;25468068;25576301;25957412;26992070;27600516;27846572;28904123;29146868;29242379;29393594;29557506;30429286;31844290;32157095;32265295;32357974;32387766;32897882;32938616;32983136;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34782749;34932366;35051231;36010968;36241641;38253038;7452228", "class_list": "", "function": "Isolation and functional characterization of the mouse PGs1 ortholog, and comparison to the human protein., [RefSeq, PubMed]; Subunit of the tubulin polyglutamylase complex (TPGC). The complex mediates cilia and flagella polyglutamylation which is essential for their biogenesis and motility (Probable). May act in the targeting of the tubulin polyglutamylase complex. Required for the development of the spermatid flagellum (By similarity)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96GE2", "ec_number_list": "", "go_molecular_function": "GO:0070740 tubulin-glutamic acid ligase activity;GO:0008017 microtubule binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005874 microtubule;GO:0030424 axon;GO:0030425 dendrite;GO:0005815 microtubule organizing center", "go_biological_process": "GO:0007288 sperm axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q6ZTW0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7L0X0-1", "uniprot_id": "TRIL_HUMAN", "mass": 88723.0, "length": 811, "protein_name": "TLR4 interactor with leucine rich repeats", "gene_name": "TRIL", "organism": "Human", "refseq_name": "TLR4 interactor with leucine rich repeats precursor", "refseq_ac": "NP_055632", "gene_names_uniprotkb": "TRIL; KIAA0644", "gene_names_refseq": "TRIL", "protein_names_uniprotkb": "TLR4 interactor with leucine rich repeats; Leucine-rich repeat-containing protein KIAA0644", "protein_names_refseq": "TLR4 interactor with leucine rich repeats precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:9865)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10.1038/emboj.2013.79;19710467;19834535;21911501;23090970;23481700;23584533;24190977;26477546;29557506;30410026;30459171;31844290;32161166;34087483;34475212;35051231;37074911", "class_list": "", "function": "Component of the TLR4 signaling complex. Mediates the innate immune response to bacterial lipopolysaccharide (LPS) leading to cytokine secretion., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TRIL is a component of the TLR4 (MIM 603030) complex and is induced in a number of cell types by lipopolysaccharide (LPS) (Carpenter et al., 2009 [PubMed 19710467]).[supplied by OMIM, Apr 2010]., [RefSeq]; Toll-like receptor 3 (TLR3) signaling requires TLR4 Interactor with leucine-rich REPeats (TRIL), [RefSeq, PubMed]; Tril dampens Nodal signaling through Pellino2- and Traf6-mediated activation of Nedd4l., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A4D1A6;O75139", "ec_number_list": "", "go_molecular_function": "GO:0001530 lipopolysaccharide binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0046696 lipopolysaccharide receptor complex", "go_biological_process": "GO:0002718 regulation of cytokine production involved in immune response;GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0034142 toll-like receptor 4 signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q7L0X0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7RTX0-1", "uniprot_id": "TS1R3_HUMAN", "mass": 93386.0, "length": 852, "protein_name": "Taste receptor type 1 member 3", "gene_name": "TAS1R3", "organism": "Human", "refseq_name": "taste receptor type 1 member 3 precursor", "refseq_ac": "NP_689414", "gene_names_uniprotkb": "TAS1R3; T1R3; TR3", "gene_names_refseq": "T1R3; TAS1R3", "protein_names_uniprotkb": "Taste receptor type 1 member 3; Sweet taste receptor T1R3", "protein_names_refseq": "sweet taste receptor T1R3; taste receptor type 1 member 3 precursor; taste receptor, type 1, member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:83756); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 90, "publication_id_list": "10761935;11007482;11208605;11894099;11917125;12015988;12120503;12706725;12892531;1325650;1329206;14634208;15194188;15299024;15353592;15385606;15576628;15738140;15951850;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23632330;23674604;24157691;24190977;24214976;24235081;24360415;24633359;2534964;25576301;25853419;26377607;26992070;27071541;2748346;28228285;28256214;2834384;28832583;29466837;29614098;29659026;29744740;29786170;30013099;30563861;31844290;32157095;32938616;32983136;35051231;35580925;36241641;36284347;37012338;37074911;37629122;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Findings demonstrate the different functional roles of T1R3 and T1R2 and the presence of multiple ligand binding sites on the sweet taste receptor, [RefSeq, PubMed]; Heterodimerization of Chemoreceptors TAS1R3 and mGlu2 in Human Blood Leukocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Prediction of dynamic allostery for the transmembrane domain of the sweet taste receptor subunit, TAS1R3. Publication Status: Online-Only, [RefSeq, PubMed]; Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners. TAS1R3 is essential for the recognition and response to the disaccharide trehalose (By similarity). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses., [UniProtKB, PubMed, PubMed]; Sequence differences in T1R receptors within and between species (human and mouse) can significantly influence the selectivity and specificity of taste responses, [RefSeq, PubMed]; The mechanism of interaction of the sweet protein monellin with T1R2-T1R3 receptor., [RefSeq, PubMed]; The protein encoded by this gene is a G-protein coupled receptor involved in taste responses. The encoded protein can form a heterodimeric receptor with TAS1R1 to elicit the umami taste response, or it can bind with TAS1R2 to form a receptor for the sweet taste response. [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": 9, "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": 9, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q5TA49;Q8NGW9", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008527 taste receptor activity", "go_cellular_component": "GO:1903767 sweet taste receptor complex;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0001582 detection of chemical stimulus involved in sensory perception of sweet taste;GO:0007186 G protein-coupled receptor signaling pathway;GO:0050916 sensory perception of sweet taste;GO:0050917 sensory perception of umami taste", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q7RTX0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z392-1", "uniprot_id": "TPC11_HUMAN", "mass": 128881.0, "length": 1133, "protein_name": "Trafficking protein particle complex subunit 11", "gene_name": "TRAPPC11", "organism": "Human", "refseq_name": "trafficking protein particle complex subunit 11 isoform a", "refseq_ac": "NP_068761", "gene_names_uniprotkb": "TRAPPC11; C4orf41", "gene_names_refseq": "C4orf41; FOIGR; GRY; LGMD2S; LGMDR18; TRAPPC11", "protein_names_uniprotkb": "Trafficking protein particle complex subunit 11", "protein_names_refseq": "foie gras homolog; gryzun homolog; trafficking protein particle complex 11; trafficking protein particle complex subunit 11 isoform a", "tax_id": 9606, "disease": "autosomal recessive limb-girdle muscular dystrophy type 2S (Disease Ontology:DOID:0110287); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:60684); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 266, "publication_id_list": "10818110;10990452;11038176;11179213;11230166;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;19608861;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;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;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23481700;23645161;23678941;23684622;23713133;23830518;23839779;24296415;24366607;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25418920;25472813;25648148;25713415;25892735;25925668;26055712;26154972;26177209;26245486;26375851;26434594;26538022;26912795;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27452731;27600516;27846572;27862579;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29855340;30315122;30429286;30524438;30843302;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35251023;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37197784;38955476;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant., [RefSeq, PubMed]; Homozygous mutations in the membrane trafficking component TRAPPC11 causes a form of autosomal-recessive, slowly progressive limb girdle muscular dystrophy with childhood onset and high serum creatine kinase., [RefSeq, PubMed]; Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis. Publication Status: Online-Only, [RefSeq, PubMed]; Recessive mutations in TRAPPC11 and GOSR2 are associated with congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan. Publication Status: Online-Only, [RefSeq, PubMed]; TRAPPC11 recruits ATG2B-WIPI4/WDR45 to preautophagosomal membranes. Fibroblasts from a patient with TRAPPC11 mutations failed to recruit ATG2B-WIPI4., [RefSeq, PubMed]; TRAPPC11 role in protein glycosylation and lipid-linked oligosaccharides biosynthesis, [RefSeq, PubMed]; The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4QPB8;B2RCD6;Q5U5I7;Q6FI73;Q86T25;Q9H0L1;Q9H5K9;Q9H8Q1;Q9H9I7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0030008 TRAPP complex", "go_biological_process": "GO:0045054 constitutive secretory pathway;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0048208 COPII vesicle coating;GO:0007030 Golgi organization;GO:0061635 regulation of protein complex stability", "synthesized_glycan_count": 0, "hit_score": 26.7, "record_id": "Q7Z392-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86W33-1", "uniprot_id": "TPRA1_HUMAN", "mass": 41053.0, "length": 373, "protein_name": "Transmembrane protein adipocyte-associated 1", "gene_name": "TPRA1", "organism": "Human", "refseq_name": "transmembrane protein adipocyte-associated 1 isoform 1", "refseq_ac": "NP_001129525", "gene_names_uniprotkb": "TPRA1; GPR175; PP6566; TMEM227", "gene_names_refseq": "GPR175; TMEM227; TPRA1; TPRA40", "protein_names_uniprotkb": "Transmembrane protein adipocyte-associated 1; Integral membrane protein GPR175; Transmembrane protein 227", "protein_names_refseq": "G protein-coupled receptor 175; integral membrane protein GPR175; seven transmembrane domain orphan receptor; transmembrane domain protein regulated in adipocytes 40 kDa; transmembrane protein 227; transmembrane protein adipocyte-associated 1 isoform 1; transmembrane protein, adipocyte asscociated 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:131601)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10342878;11237011;15498874;25502872;25576301;26451044;28228285;28904123;29242379;30315122;31844290;32157095;32350084;32938616;33592498;33912179;33968037;34087483;34405274;35251023;36010968;36215666", "class_list": "", "function": "Gpr175 is a novel positive regulator of the Hh signaling pathway, [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": 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": "A8MVB8;D3DNA9;Q8WZ24;Q96AJ6;Q9P2R4", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q86W33-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N9V2-1", "uniprot_id": "TRIML_HUMAN", "mass": 53002.0, "length": 468, "protein_name": "Probable E3 ubiquitin-protein ligase TRIML1", "gene_name": "TRIML1", "organism": "Human", "refseq_name": "probable E3 ubiquitin-protein ligase TRIML1", "refseq_ac": "NP_848651", "gene_names_uniprotkb": "TRIML1; RNF209", "gene_names_refseq": "RNF209; TRIML1", "protein_names_uniprotkb": "Probable E3 ubiquitin-protein ligase TRIML1; 2.3.2.27; RING finger protein 209; RING-type E3 ubiquitin transferase TRIML1; Tripartite motif family-like protein 1", "protein_names_refseq": "RING finger protein 209; RING-type E3 ubiquitin transferase TRIML1; probable E3 ubiquitin-protein ligase TRIML1", "tax_id": 9606, "disease": "", "pathway": " (hsa:339976)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "16959974;19156909;35051231;38253038", "class_list": "", "function": "Probable E3 ubiquitin-protein ligase which plays an important role in blastocyst development., [UniProtKB, UniProtKB]; The protein encoded by this gene is a tripartite motif family protein with similarities to E3 ubiquitin-protein ligases. While the function of the encoded protein has not been determined, the orthologous protein in mouse has been shown to bind ubiquitin-specific protease 5 and is involved in the blastocyst development stage. [provided by RefSeq, Sep 2016]., [RefSeq]; This paper describes the mouse ortholog of the human TRIML1 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": 29, "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": "Q96BE5", "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:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N9V2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NEZ2-1", "uniprot_id": "VP37A_HUMAN", "mass": 44314.0, "length": 397, "protein_name": "Vacuolar protein sorting-associated protein 37A", "gene_name": "VPS37A", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 37A isoform 2", "refseq_ac": "NP_001138624", "gene_names_uniprotkb": "VPS37A; HCRP1", "gene_names_refseq": "HCRP1; PQBP2; SPG53; VPS37A", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 37A; ESCRT-I complex subunit VPS37A; Hepatocellular carcinoma-related protein 1; hVps37A", "protein_names_refseq": "ESCRT-I complex subunit VPS37A; VPS37A, ESCRT-I subunit; hepatocellular carcinoma-related protein 1; polyglutamine binding protein 2; vacuolar protein sorting 37 homolog A; vacuolar protein sorting-associated protein 37A isoform 2; vacuolar protein sorting-associated protein 37A", "tax_id": 9606, "disease": "hereditary spastic paraplegia 53 (Disease Ontology:DOID:0110805)", "pathway": " (hsa:137492); (R-HSA-162588); (R-HSA-174490); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9615710)", "pathway_count": 6, "publication_count": 83, "publication_id_list": "11112487;11237011;11527981;11563910;12663786;14623289;14624836;15075231;15218037;15240819;15473846;15509564;15613341;16371348;16775314;16973552;18005716;18669648;19413330;19527882;19640981;21238931;21289126;21757351;2204156;22717650;22762019;23186163;23266279;23305486;24715725;25961502;26992070;2799391;28228285;28649982;28832583;28904123;29237092;29242379;29351928;29493099;29557506;30059200;30315122;31092671;31154438;31217245;31492838;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32938616;33214551;33298915;33392160;33537174;33592498;33968037;33981976;34019948;34185709;34357683;34509645;35051231;35132862;35254053;35513511;35580925;36010968;37340703;38665916;39302247;39531497;39534244;40596516;9506952;9525617", "class_list": "", "function": "Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Our results strongly suggest that HCRP1 might be a growth inhibitory protein and associated with decreasing the invasion of HCC cells, [RefSeq, PubMed]; This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [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": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q336D5;Q6NW27;Q8N3D7;Q8TBL7;Q96DL9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0031902 late endosome membrane;GO:0010008 endosome membrane;GO:0000813 ESCRT I complex", "go_biological_process": "GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex;GO:0043328 protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;GO:0006612 protein targeting to membrane;GO:0016236 macroautophagy", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q8NEZ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NG06-1", "uniprot_id": "TRI58_HUMAN", "mass": 54766.0, "length": 486, "protein_name": "E3 ubiquitin-protein ligase TRIM58", "gene_name": "TRIM58", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM58", "refseq_ac": "NP_056246", "gene_names_uniprotkb": "TRIM58", "gene_names_refseq": "BIA2; TRIM58", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM58; 2.3.2.27; Protein BIA2; RING-type E3 ubiquitin transferase TRIM58; Tripartite motif-containing protein 58", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM58; RING-type E3 ubiquitin transferase TRIM58; tripartite motif-containing protein 58", "tax_id": 9606, "disease": "", "pathway": " (hsa:25893)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "20112406;25241935;26154972;27862975;27926516;29557506;30418433;30429286;31844290;32387766;32502341;32983136;33141586;33392160;33406903;34509645;35051231;36208235;36644609;37516854;37938771", "class_list": "", "function": "E3 ubiquitin ligase induced during late erythropoiesis. Directly binds and ubiquitinates the intermediate chain of the microtubule motor dynein (DYNC1LI1/DYNC1LI2), stimulating the degradation of the dynein holoprotein complex. May participate in the erythroblast enucleation process through regulation of nuclear polarization., [UniProtKB, PubMed]; Our findings suggest that aberrant inactivation of TRIM58 consequent to CGI hypermethylation might stimulate the early carcinogenesis of LADC regardless of smoking status; furthermore, TRIM58 methylation might be a possible early diagnostic and epigenetic therapeutic target in LADC., [RefSeq, PubMed]; TRIM58 Interacts with ZEB1 to Suppress NSCLC Tumor Malignancy by Promoting ZEB1 Protein Degradation via UPP. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM58 functions as a tumor suppressor in colorectal cancer by promoting RECQL4 ubiquitination to inhibit the AKT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM58 is a prognostic biomarker remodeling the tumor microenvironment in KRAS-driven lung adenocarcinoma., [RefSeq, PubMed]; [Correlation between the Promoter Methylation Status of TRIM58 and Its mRNA Expression in 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": 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": "Q6B0H9", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0045504 dynein heavy chain binding;GO:0045505 dynein intermediate chain binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0061931 positive regulation of erythrocyte enucleation;GO:1902838 regulation of nuclear migration along microtubule;GO:0045087 innate immune response;GO:0000209 protein polyubiquitination;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8NG06-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NG68-1", "uniprot_id": "TTL_HUMAN", "mass": 43212.0, "length": 377, "protein_name": "Tubulin--tyrosine ligase", "gene_name": "TTL", "organism": "Human", "refseq_name": "tubulin--tyrosine ligase isoform 1", "refseq_ac": "NP_714923", "gene_names_uniprotkb": "TTL", "gene_names_refseq": "TTL", "protein_names_uniprotkb": "Tubulin--tyrosine ligase; 6.3.2.25; TTL", "protein_names_refseq": "2410003M22Rik; tubulin--tyrosine ligase isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:150465); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20468071;20519502;21074048;23358242;23481700;24715725;25103237;25468068;25576301;25645385;25880248;25908662;25957412;26375851;26992070;27920218;28218747;28228285;28832583;28834231;28904123;29146868;29242379;29393594;29437277;29557506;29786170;30315122;30429286;30779550;31154438;31844290;32157095;32265295;32357974;32387766;32488085;32938616;33592498;33912179;33968037;34087483;34185709;34357683;34405274;34509645;35051231;35580925;36010968;37938771;7452228", "class_list": "", "function": "Catalyzes the post-translational addition of a tyrosine to the C-terminal end of detyrosinated alpha-tubulin., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[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": 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": "Q585T3;Q7Z302;Q8N426", "ec_number_list": "3.6.5.-;6.3.2.25", "go_molecular_function": "GO:0004835 tubulin-tyrosine ligase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005876 spindle microtubule", "go_biological_process": "GO:0090235 regulation of metaphase plate congression;GO:0043687 post-translational protein modification;GO:0045931 positive regulation of mitotic cell cycle;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q8NG68-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96FV3-1", "uniprot_id": "TSN17_HUMAN", "mass": 30264.0, "length": 270, "protein_name": "Tetraspanin-17", "gene_name": "TSPAN17", "organism": "Human", "refseq_name": "tetraspanin-17 isoform c", "refseq_ac": "NP_001006617", "gene_names_uniprotkb": "TSPAN17; FBXO23; TM4SF17", "gene_names_refseq": "FBX23; FBXO23; TM4SF17; TSPAN17", "protein_names_uniprotkb": "Tetraspanin-17; F-box only protein 23; Tetraspan protein SB134; Transmembrane 4 superfamily member 17; Tspan-17", "protein_names_refseq": "F-box only protein 23, transmembrane 4 superfamily member 17; tetraspan protein SB134; tetraspanin-17 isoform c", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:26262)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10531035;11237011;28218747;28600292;28832583;31432186;37516108", "class_list": "", "function": "Data suggested that increased miR378a3p and decreased TSPAN17 levels were associated with improved survival in glioblastoma multiforme (GBM). Additionally, high levels of TSPAN17 were linked to the poor prognosis of patients with GBM aged 5060, larger tumor sizes and an advanced World Health Organization stage. TSPAN17 was identified and confirmed as a direct target of miR378a., [RefSeq, PubMed]; Endothelial Tspan5- and Tspan17-ADAM10 complexes may regulate inflammation by maintaining normal VE-cadherin expression and promoting T lymphocyte transmigration., [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:28600292, PubMed:37516108). Seems to regulate VE-cadherin expression in endothelial cells probably through interaction with ADAM10, promoting leukocyte transmigration (PubMed:28600292)., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the transmembrane 4 superfamily. It is characterized by four tetraspanin transmembrane segments. The function of this gene has not yet been determined. [provided by RefSeq, Mar 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": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6NXF7;Q96S98;Q9UKB9", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0072594 establishment of protein localization to organelle;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;GO:0051043 regulation of membrane protein ectodomain proteolysis", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q96FV3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NA8-1", "uniprot_id": "TSNA1_HUMAN", "mass": 55949.0, "length": 513, "protein_name": "t-SNARE domain-containing protein 1", "gene_name": "TSNARE1", "organism": "Human", "refseq_name": "t-SNARE domain-containing protein 1 isoform a", "refseq_ac": "NP_659440", "gene_names_uniprotkb": "TSNARE1", "gene_names_refseq": "TSNARE1", "protein_names_uniprotkb": "t-SNARE domain-containing protein 1", "protein_names_refseq": "t-SNARE domain-containing protein 1 isoform a; t-SNARE domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:203062)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;23186163;24166486;24714562;25471352;26992070;30524438;31844290;32897882;32983136;33592498;33968037;33981976;34481484;35051231;35580925", "class_list": "", "function": "GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus Publication Status: Online-Only, [RefSeq, PubMed]; MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; Study provides the first evidence that the minor allele of TSNARE1 rs10098073 is significantly associated with a reduced risk of schizophrenia in a Han Chinese population, suggesting TSNARE1 may represent a susceptibility gene for this 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": 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": "B7ZLB0;Q14D03", "ec_number_list": "", "go_molecular_function": "GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0012505 endomembrane system;GO:0008021 synaptic vesicle;GO:0031201 SNARE complex;GO:0016020 membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006906 vesicle fusion;GO:0048278 vesicle docking;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96NA8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQ50-2", "uniprot_id": "TREX2_HUMAN", "mass": 25922.0, "length": 236, "protein_name": "Three prime repair exonuclease 2", "gene_name": "TREX2", "organism": "Human", "refseq_name": "three prime repair exonuclease 2", "refseq_ac": "NP_542432", "gene_names_uniprotkb": "TREX2", "gene_names_refseq": "TREX2", "protein_names_uniprotkb": "Three prime repair exonuclease 2; 3'-5' exonuclease TREX2; 3.1.11.2", "protein_names_refseq": "3'-5' exonuclease TREX2 long form; three prime repair exonuclease 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:11219)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10391904;11278605;11279105;15581481;15661738;17426129;32917881;33357432;38066323", "class_list": "", "function": "Exonuclease with a preference for double-stranded DNA with mismatched 3' termini. May play a role in DNA repair., [UniProtKB, PubMed]; Nucleoporin TPR is an integral component of the TREX-2 mRNA export pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Polymorphisms exist in prostatic cancer patients., [RefSeq, PubMed]; Results suggest that TREX2 plays an important function during DNA metabolism and cellular proliferation., [RefSeq, PubMed]; TREX2 Exonuclease Causes Spontaneous Mutations and Stress-Induced Replication Fork Defects in Cells Expressing RAD51(K133A)., [RefSeq, PubMed]; The Human TREX-2 Complex Interacts with Subunits of the ORC Complex., [RefSeq, PubMed]; This gene encodes a nuclear protein with 3' to 5' exonuclease activity. The encoded protein participates in double-stranded DNA break repair, and may interact with DNA polymerase delta. [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": 0, "reported_mutagensis": 8, "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": "Q45F08;Q9UN77", "ec_number_list": "", "go_molecular_function": "GO:0008296 3'-5'-DNA exonuclease activity;GO:0060090 molecular adaptor activity;GO:0000287 magnesium ion binding;GO:0003677 DNA binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006281 DNA repair;GO:0006259 DNA metabolic process;GO:0006308 DNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9BQ50-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BSJ1-1", "uniprot_id": "TRI51_HUMAN", "mass": 52285.0, "length": 452, "protein_name": "Tripartite motif-containing protein 51", "gene_name": "TRIM51", "organism": "Human", "refseq_name": "tripartite motif-containing protein 51", "refseq_ac": "NP_116070", "gene_names_uniprotkb": "TRIM51; SPRYD5", "gene_names_refseq": "SPRYD5; TRIM51A; TRIM51", "protein_names_uniprotkb": "Tripartite motif-containing protein 51; SPRY domain-containing protein 5", "protein_names_refseq": "SPRY domain containing 5; SPRY domain-containing protein 5; tripartite motif-containing protein 51", "tax_id": 9606, "disease": "", "pathway": " (hsa:84767)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "25802875;26154972;26375851;29557506;31937595;32157095;33141586;39394480", "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": 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": "A6NMG2", "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": 0.9, "record_id": "Q9BSJ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYJ4-1", "uniprot_id": "TRI34_HUMAN", "mass": 56864.0, "length": 488, "protein_name": "E3 ubiquitin-protein ligase TRIM34", "gene_name": "TRIM34", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM34 isoform 1", "refseq_ac": "NP_001003827", "gene_names_uniprotkb": "TRIM34; IFP1; RNF21", "gene_names_refseq": "IFP1; RNF21; TRIM34", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM34; 2.3.2.27; Interferon-responsive finger protein 1; RING finger protein 21", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM34 isoform 1; E3 ubiquitin-protein ligase TRIM34; interferon-responsive finger protein 1; ring finger protein 21, interferon-responsive", "tax_id": 9606, "disease": "", "pathway": " (hsa:53840); (R-HSA-877300)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "10067896;10986460;11013086;11331580;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;17125875;17156811;18362138;18591661;20049711;20130243;20304997;20363976;21680743;22424782;23061660;24417533;24715725;25645385;26375851;26992070;27371841;29437277;29493099;30315122;30410026;31487507;31844290;31848261;31937595;31956709;32157095;32282853;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33239784;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34185709;34211107;34509645;34932366;35051231;35065966;35494241;35561310;35580925;36010968;36284347;38336254;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9029102;9111318;9143706", "class_list": "", "function": "Data show there was no distinguished colocalization relationship between the complex of tripartite motif-containing protein 34 (TRIM34)-micronulei and mitochondria., [RefSeq, PubMed]; Functions as antiviral protein and contributes to the defense against retroviral infections (PubMed:17156811, PubMed:32282853). Acts as a capsid-specific restriction factor with the help of TRIM5 and prevents infection from non-host-adapted retroviruses (PubMed:32282853). During influenza A virus infection, promotes programmed cell death by targeting ZBP1 for 'Lys-63'-linked polyubiquitination (PubMed:35065966). In turn, promotes ZBP1 recruitment of RIPK3 to mediate virus-induced programmed necrosis (PubMed:35065966). Negatively regulates the function of mitochondria by enhancing mitochondrial depolarization leading to cytochrome c release and mitochondria-dependent apoptosis (PubMed:31956709). Also promotes the formation of multinucleated giant cells by means of cell fusion and phagocytosis in epithelial cells (PubMed:31487507)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; TRIM34 modulates influenza virus-activated programmed cell death by targeting Z-DNA-binding protein 1 for K63-linked polyubiquitination., [RefSeq, PubMed]; TRIM34 proteins contribute to the formation of MGCs., [RefSeq, PubMed]; TRIM34 restricts HIV-1 and SIV capsids in a TRIM5alpha-dependent manner. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM34 suppresses non-small-cell lung carcinoma via inducing mTORC1-dependent glucose utilization and promoting cellular death., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. Expression of this gene is up-regulated by interferon. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from the upstream TRIM6 gene has also been observed, which results in a fusion product from these neighboring family members. [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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DQS7;Q9C016;Q9HCR0;Q9HCR1;Q9HCR2", "ec_number_list": "2.3.2.27;2.7.7.84;1.8.4.-;1.8.-.-;2.3.2.-;3.6.1.-;3.6.5.-;2.7.11.1;2.3.1.-;6.3.2.n3", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0016567 protein ubiquitination;GO:0010468 regulation of gene expression;GO:0080090 regulation of primary metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9BYJ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCN2-1", "uniprot_id": "TPIP1_HUMAN", "mass": 12935.0, "length": 124, "protein_name": "p53-regulated apoptosis-inducing protein 1", "gene_name": "TP53AIP1", "organism": "Human", "refseq_name": "p53-regulated apoptosis-inducing protein 1 isoform c", "refseq_ac": "NP_001182123", "gene_names_uniprotkb": "TP53AIP1", "gene_names_refseq": "P53AIP1; TP53AIP1", "protein_names_uniprotkb": "p53-regulated apoptosis-inducing protein 1; p53AIP1", "protein_names_refseq": "p53-regulated apoptosis-inducing protein 1 isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:63970); (R-HSA-6803204)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10807576;11030628;11511362;11684014;12019168;12402042;12606722;14707453;14729977;15004724;15126337;15273740;15607964;15657359;15735003;17349958;18617898;19377469;22334068;22766503;23365256;23684607;23931759;24316591;25080938;25108434;26071602;29359367;30864684;39223776;7834749", "class_list": "", "function": "Bioinformatic analysis identified TP53AIP1 as a direct target for miR-505., [RefSeq, PubMed]; Data indicate that p53-regulated apoptosis-inducing protein 1 (p53AIP1) inhibits the proliferation of PC-3M cells, arrests cell cycle at S/G2-M phase, decreases the abilities of invasion and migration and promotes cell apoptosis., [RefSeq, PubMed]; Expression of the p53 mutant, R248Q, in liver cancer cells may enhance their drug resistance and upregulation of P-glycoprotein activity may contribute to this protective effect., [RefSeq, PubMed]; May play an important role in mediating p53/TP53-dependent apoptosis., [UniProtKB, PubMed]; P53AIP1 regulates the mitochondrial apoptotic pathway., [RefSeq, PubMed]; Results show that constitutional truncating TP53AIP1 mutations predispose to CMM in the French population, [RefSeq, PubMed]; Roscovitine induced up-regulation of p53AIP1 protein and the depolarization of mitochondrial potential. Erratum:[Mol Cancer Ther. 2005 Mar;4(3):503], [RefSeq, PubMed]; TP53AIP1 induce autophagy via the AKT/mTOR signaling pathway in the breast cancer cells., [RefSeq, PubMed]; The expression of Ki67 and p53 in various forms of leukoplakia point to the increasing instability of the genome in parallel with the severity of leukoplakia., [RefSeq, PubMed]; These studies indicate the critical role of p53AIP1 under DNA damaging stresses for cell fate determination in rheumatoid arthritis-fibroblast-like synovioctes containing the p53R248Q mutation., [RefSeq, PubMed]; This gene is specifically expressed in the thymus, and encodes a protein that is localized to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "Q6NT40;Q7Z6F7;Q9HCN0;Q9HCN1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9HCN2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NUP7-1", "uniprot_id": "TRM13_HUMAN", "mass": 54247.0, "length": 481, "protein_name": "tRNA:m(4)X modification enzyme TRM13 homolog", "gene_name": "TRMT13", "organism": "Human", "refseq_name": "tRNA:m(4)X modification enzyme TRM13 homolog isoform 1", "refseq_ac": "NP_061956", "gene_names_uniprotkb": "TRMT13; CCDC76", "gene_names_refseq": "CCDC76; TRMT13; hTrmt13", "protein_names_uniprotkb": "tRNA:m(4)X modification enzyme TRM13 homolog; 2.1.1.225; Coiled-coil domain-containing protein 76", "protein_names_refseq": "coiled-coil domain containing 76; coiled-coil domain-containing protein 76; tRNA [Gm4] methyltransferase; tRNA guanosine-2'-O-methyltransferase TRM13 homolog; tRNA methyltransferase 13 homolog; tRNA:m(4)X modification enzyme TRM13 homolog isoform 1; tRNA:m(4)X modification enzyme TRM13 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:54482); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10.1101/2023.09.13.557529;10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;17071714;18567810;18703587;19017811;19414587;20068231;20123966;20308323;20354154;20584901;21059936;21131277;22223895;22344696;22591353;22995836;23042678;23048041;23381944;23481700;23604283;24126054;24204302;24901367;25261850;25404562;25576301;25916855;26154972;26160102;26310293;26992070;27055666;27846572;27920218;28228285;28832583;28834231;29242379;29393594;30429286;31217245;31481669;31844290;31848261;32157095;32488085;33298915;33968037;34850409;35051231;35561310;35580925;36610787;9430663;9851972", "class_list": "", "function": "A dual role of human tRNA methyltransferase hTrmt13 in regulating translation and transcription., [RefSeq, PubMed]; tRNA methylase which 2'-O-methylates cytidine(4) in tRNA(Pro) and tRNA(Gly)(GCC), and adenosine(4) in tRNA(His)., [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": 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": 13, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5VVL0;Q9NW65", "ec_number_list": "2.1.1.225", "go_molecular_function": "GO:0008175 tRNA methyltransferase activity;GO:0106050 tRNA 2'-O-methyltransferase activity;GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "GO:0030488 tRNA methylation", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q9NUP7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2J2-1", "uniprot_id": "TUTLA_HUMAN", "mass": 126580.0, "length": 1179, "protein_name": "Protein turtle homolog A", "gene_name": "IGSF9", "organism": "Human", "refseq_name": "protein turtle homolog A isoform a precursor", "refseq_ac": "NP_001128522", "gene_names_uniprotkb": "IGSF9; IGSF9A; KIAA1355; NRT1", "gene_names_refseq": "FP18798; IGSF9A; IGSF9; Nrt1", "protein_names_uniprotkb": "Protein turtle homolog A; IgSF9A; Immunoglobulin superfamily member 9A", "protein_names_refseq": "immunoglobulin superfamily member 9A; protein turtle homolog A isoform a precursor; protein turtle homolog A", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:57549)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1101/2023.09.13.557529;11991715;22299025;23090970;24190977;24275569;29500156;29557506;29741879;31092671;31844290;31848261;32161166;32938616;33691108;35013309;35051231;36088502;36639264", "class_list": "", "function": "Functions in dendrite outgrowth and synapse maturation., [UniProtKB]; Genomic alterations and evolution of cell clusters in metastatic invasive micropapillary carcinoma of the breast. Publication Status: Online-Only, [RefSeq, PubMed]; Immunoglobulin superfamily 9 (IGSF9) is trans-activated by p53, inhibits breast cancer metastasis via FAK., [RefSeq, PubMed]; In the group that combined individuals affected by isolated cleft lip and palate, tooth agenesis, supernumerary teeth, molar incisor hypomineralization, or dental caries, we found an association with rs622260 but not with the rs10798049 marker. We determined that the allele C of rs622260 was overrepresented in all individuals studied compared with a group of unrelated individuals who did not present any of, [RefSeq, PubMed]; The ALDH2, IGSF9, and PRDM16 Proteins as Predictive Biomarkers for Prognosis in Breast Cancer., [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": 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": 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": 31, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 6, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0030424 axon;GO:0030425 dendrite;GO:0060077 inhibitory synapse", "go_biological_process": "GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007411 axon guidance;GO:0070593 dendrite self-avoidance;GO:0090128 regulation of synapse maturation", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9P2J2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBN6-1", "uniprot_id": "TR10D_HUMAN", "mass": 41849.0, "length": 386, "protein_name": "Tumor necrosis factor receptor superfamily member 10D", "gene_name": "TNFRSF10D", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 10D precursor", "refseq_ac": "NP_003831", "gene_names_uniprotkb": "TNFRSF10D; DCR2; PRO288; TRAILR4; TRUNDD", "gene_names_refseq": "CD264; DCR2; TNFRSF10D; TRAIL-R4; TRAILR4; TRUNDD", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 10D; DcR2; Decoy receptor 2; TNF-related apoptosis-inducing ligand receptor 4; TRAIL receptor 4; TRAIL receptor with a truncated death domain; TRAIL-R4", "protein_names_refseq": "TNF receptor-related receptor for TRAIL; TNF-related apoptosis-inducing ligand receptor 4; TRAIL receptor 4; TRAIL receptor with a truncated death domain; decoy receptor 2; tumor necrosis factor receptor superfamily member 10D precursor; tumor necrosis factor receptor superfamily member 10d; tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain", "tax_id": 9606, "disease": "colon cancer (Disease Ontology:DOID:219); osteoarthritis (Disease Ontology:DOID:8398)", "pathway": " (hsa:8793); (R-HSA-202733); (R-HSA-6803211); (R-HSA-75158)", "pathway_count": 4, "publication_count": 96, "publication_id_list": "10.1074/mcp.M114.046862;10606205;10764623;10777207;10894160;11207550;11256994;11382926;11564780;11717445;11779189;11812992;12070135;12198154;12208882;12469115;12782713;12975309;14529530;14615387;14623878;15000751;15289308;15340161;15528364;15681301;15721307;15769996;1591491;16230375;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17327223;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;19279206;19615968;19664995;20353938;20852190;21193412;21659548;23365256;23481700;23945545;24043627;24764293;2538457;25813380;26378048;28228285;28860189;29242379;30524438;31183506;31612990;38787503;468991;7509040;7521878;7566179;8163559;8166770;8314844;8777713;9052782;9082980;9169774;9242610;9295288;9311998;9326928;9382840;9382878;9430226;9537512;9693095;9763524", "class_list": "", "function": "Data suggest that the determination of intracellular co-expression patterns of TRAIL-R1, TRAIL-R2, and TRAIL-R4 provides an innovative and robust method for risk stratification in breast cancer patients beyond conventional prognostic markers., [RefSeq, PubMed]; ELF3 plays an important role in defining TRAIL sensitivity in breast cancer by modulating the expression of decoy receptor 2 (DCR2). Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for the cytotoxic ligand TRAIL (PubMed:9430226). Contains a truncated death domain and hence is not capable of inducing apoptosis but protects against TRAIL-mediated apoptosis (PubMed:9537512). Reports are contradictory with regards to its ability to induce the NF-kappa-B pathway. According to PubMed:9382840, it cannot but according to PubMed:9430226, it can induce the NF-kappa-B pathway (PubMed:9382840, PubMed:9430226)., [UniProtKB, PubMed, PubMed, PubMed]; Survival of aging CD264(+) and CD264(-) populations of human bone marrow mesenchymal stem cells is independent of colony-forming efficiency., [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain, a transmembrane domain, and a truncated cytoplamic death domain. This receptor does not induce apoptosis, and has been shown to play an inhibitory role in TRAIL-induced cell apoptosis. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 17, "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": "B2R8W0;Q9Y6Q4", "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_biological_process": "GO:0007165 signal transduction;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q9UBN6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPQ4-1", "uniprot_id": "TRI35_HUMAN", "mass": 56540.0, "length": 493, "protein_name": "E3 ubiquitin-protein ligase TRIM35", "gene_name": "TRIM35", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM35 isoform 1", "refseq_ac": "NP_741983", "gene_names_uniprotkb": "TRIM35; HLS5; KIAA1098", "gene_names_refseq": "HLS5; MAIR; TRIM35", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM35; 2.3.2.27; Hemopoietic lineage switch protein 5", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM35 isoform 1; E3 ubiquitin-protein ligase TRIM35; hemopoietic lineage switch protein 5; tripartite motif-containing protein 35", "tax_id": 9606, "disease": "", "pathway": " (hsa:23087); (R-HSA-877300)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10067896;10986460;11237011;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14662771;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;17125875;18362138;18591661;18691976;19007248;20049711;20130243;20304997;20363976;21406692;23061660;23186163;23481700;24417533;24715725;25263439;25576301;25907537;26992070;27846572;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;30315122;30379171;30429286;30524438;31844290;32157095;32265295;32387766;32488085;32502341;32562145;32897882;32938616;32983136;33141586;33239784;33298915;33936100;33968037;33981976;34171305;34211107;34509645;34932366;35051231;35081724;35580925;36196894;37578239;37594849;39304904;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "E3 ubiquitin-protein ligase that participates in multiple biological processes including cell death, glucose metabolism, and in particular, the innate immune response. Mediates 'Lys-63'-linked polyubiquitination of TRAF3 thereby promoting type I interferon production via RIG-I signaling pathway (PubMed:32562145). Can also catalyze 'Lys-48'-linked polyubiquitination and proteasomal degradation of viral proteins such as influenza virus PB2 (PubMed:32562145). Acts as a negative feedback regulator of TLR7- and TLR9-triggered signaling. Mechanistically, promotes the 'Lys-48'-linked ubiquitination of IRF7 and induces its degradation via a proteasome-dependent pathway (PubMed:25907537). Reduces FGFR1-dependent tyrosine phosphorylation of PKM, inhibiting PKM-dependent lactate production, glucose metabolism, and cell growth (PubMed:25263439)., [UniProtKB, PubMed, PubMed, PubMed]; Gene located on chromosome 8p21, a region implicated in leukemias and solid tumors; enforced expression inhibited cell growth, clonogenicity, and tumorigenicity; conceivable HLS5 is one of the tumor suppressor genes thought to reside at the 8p21 locus, [RefSeq, PubMed]; IRF5 promotes glycolysis in the progression of hepatocellular carcinoma and is regulated by TRIM35., [RefSeq, PubMed]; Inhibition of human adenovirus replication by TRIM35-mediated degradation of E1A., [RefSeq, PubMed]; TRIM35 functions as a novel tumor suppressor in breast cancer by inducing cell apoptosis through ubiquitination of PDK1., [RefSeq, PubMed]; TRIM35 regulates the Warburg effect and tumorigenicity through interaction with PKM2 in hepatocellular carcinoma., [RefSeq, PubMed]; TRIM35 triggers cardiac remodeling by regulating SLC7A5-mediated amino acid transport and mTORC1 activation in fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM35 ubiquitination regulates the expression of PKM2 tetramer and dimer and affects the malignant behaviour of breast cancer by regulating the Warburg effect., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "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": "Q86XQ0;Q8WVA4", "ec_number_list": "2.3.2.27;2.7.7.84;1.8.4.-;1.8.-.-;2.3.2.-;3.6.1.-;3.6.5.-;2.7.11.1;2.3.1.-;6.3.2.n3", "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:0044790 suppression of viral release by host;GO:0043065 positive regulation of apoptotic process;GO:0045087 innate immune response;GO:0006915 apoptotic process;GO:0045930 negative regulation of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9UPQ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NGE7-1", "uniprot_id": "URAD_HUMAN", "mass": 19130.0, "length": 173, "protein_name": "Putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase", "gene_name": "URAD", "organism": "Human", "refseq_name": "putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase", "refseq_ac": "NP_001099047", "gene_names_uniprotkb": "URAD; PRHOXNB", "gene_names_refseq": "PRHOXNB; URAD", "protein_names_uniprotkb": "Putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase; 4.1.1.97; OHCU decarboxylase; Parahox neighbor; Ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase", "protein_names_refseq": "OHCU decarboxylase; parahox cluster neighbor; putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase", "tax_id": 9606, "disease": "", "pathway": " (hsa:646625)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "16462750;31848261;33968037", "class_list": "", "function": "Catalyzes the stereoselective decarboxylation of 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline (OHCU) to (S)-allantoin, a step in the uric acid degradation pathway following urate oxidation (By similarity). In humans, the protein appears to be poorly or not expressed, suggesting that this activity is likely not operative (Probable)., [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": 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": "4.1.1.97", "go_molecular_function": "GO:0016831 carboxy-lyase activity", "go_cellular_component": "GO:0005777 peroxisome", "go_biological_process": "GO:0006144 purine nucleobase metabolic process;GO:0000255 allantoin metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NGE7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NJT0-1", "uniprot_id": "UNC4_HUMAN", "mass": 53690.0, "length": 531, "protein_name": "Homeobox protein unc-4 homolog", "gene_name": "UNCX", "organism": "Human", "refseq_name": "homeobox protein unc-4 homolog", "refseq_ac": "NP_001073930", "gene_names_uniprotkb": "UNCX; UNCX4.1", "gene_names_refseq": "UNCX4.1; UNCX", "protein_names_uniprotkb": "Homeobox protein unc-4 homolog; Homeobox protein Uncx4.1", "protein_names_refseq": "UNC homeobox protein; Unc4.1 homeobox; homeobox protein Uncx4.1; homeobox protein unc-4 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:340260)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "28411256", "class_list": "", "function": "Our findings suggest a novel leukemogenic role of UNCX, associated with epigenetic modifications and with impaired cell proliferation and differentiation in AML., [RefSeq, PubMed]; This gene encodes a homeobox transcription factor that is involved in somitogenesis and neurogenesis and is required for the maintenance and differentiation of specific elements of the axial skeleton. This gene also plays a role in controlling the development of connections of hypothalamic neurons to pituitary elements, allowing central neurons to reach the peripheral blood circulation and deliver hormones that control peripheral functions. The expression of this gene is associated with an increased frequency of acute myeloid leukemia. [provided by RefSeq, Jul 2017]., [RefSeq]; Transcription factor involved in somitogenesis and neurogenesis. Required for the maintenance and differentiation of particular elements of the axial skeleton. May act upstream of PAX9. Plays a role in controlling the development of connections of hypothalamic neurons to pituitary elements, allowing central neurons to reach the peripheral blood circulation and to deliver hormones for control of peripheral functions (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": 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": "A4D221", "ec_number_list": "", "go_molecular_function": "GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NJT0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H347-1", "uniprot_id": "UBQL3_HUMAN", "mass": 70841.0, "length": 655, "protein_name": "Ubiquilin-3", "gene_name": "UBQLN3", "organism": "Human", "refseq_name": "ubiquilin-3", "refseq_ac": "NP_001334025", "gene_names_uniprotkb": "UBQLN3", "gene_names_refseq": "TUP-1; UBQLN3", "protein_names_uniprotkb": "Ubiquilin-3", "protein_names_refseq": "testicular tissue protein Li 220; ubiquilin-3", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis (Disease Ontology:DOID:332)", "pathway": " (hsa:50613)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10831842;11121057;11237011;24674348;25776854;29557506;30379171;31844290;32350084;32387766;33784796;35051231;38253038", "class_list": "", "function": "Functional analysis of the orthologous mouse gene., [RefSeq, PubMed]; Includes the identification of the ubiquilin 3 gene upstream of the beta-globin gene cluster and surrounding olfactory receptor genes., [RefSeq, PubMed]; MicroRNA-targeting in spermatogenesis: Over-expressions of microRNA-23a/b-3p and its affected targeting of the genes ODF2 and UBQLN3 in spermatozoa of patients with oligoasthenozoospermia., [RefSeq, PubMed]; This gene encodes a ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and are thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This gene is specifically expressed in the testis. It has been suggested that this gene may regulate cell-cycle progression during spermatogenesis, however, it has been shown that the ortholgous mouse gene is dispensable for embryonic development and spermatogenesis. [provided by RefSeq, Nov 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": 21, "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": "Q9NRE0", "ec_number_list": "", "go_molecular_function": "GO:0031593 polyubiquitin modification-dependent protein binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006511 ubiquitin-dependent protein catabolic process;GO:0033554 cellular response to stress;GO:0061136 regulation of proteasomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9H347-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q68DE3-1", "uniprot_id": "USF3_HUMAN", "mass": 241653.0, "length": 2245, "protein_name": "Basic helix-loop-helix domain-containing protein USF3", "gene_name": "USF3", "organism": "Human", "refseq_name": "basic helix-loop-helix domain-containing protein USF3", "refseq_ac": "NP_001009899", "gene_names_uniprotkb": "USF3; KIAA2018", "gene_names_refseq": "KIAA2018; USF3", "protein_names_uniprotkb": "Basic helix-loop-helix domain-containing protein USF3; Upstream transcription factor 3", "protein_names_refseq": "basic helix-loop-helix domain-containing protein USF3", "tax_id": 9606, "disease": "", "pathway": " (hsa:205717)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;25892735;28011713;28411811;29331515;29769354;30379171;31324691;31883164;32157095;32387766;32488085;32938616;32938750;33058301;34019948;35051231;35254053;36010968;37541260;38253038;39531497", "class_list": "glycogene;glycosylhydrolase", "function": "Involved in the negative regulation of epithelial-mesenchymal transition, the process by which epithelial cells lose their polarity and adhesion properties to become mesenchymal cells with enhanced migration and invasive properties., [UniProtKB, PubMed]; Osteoporosis genome-wide association study variant c.3781 C>A is regulated by a novel anti-osteogenic factor miR-345-5p., [RefSeq, PubMed]; Therefore, USF3 may be involved in the predisposition of thyroid cancer. Importantly, the results that glutamine-dependent survival and sensitivity to ER stress in USF3-deficient cells provide avenues for therapeutic and adjunct preventive interventions for both sporadic cancer as well as cancer predisposition syndromes with similar mechanisms., [RefSeq, PubMed]; This gene encodes a large protein that contains a helix-loop-helix domain and a polyglutamine region. A deletion in the polyglutamine region was associated with risk for thyroid carcinoma. [provided by RefSeq, May 2017]., [RefSeq]; USF3 modulates osteoporosis risk by targeting WNT16, RANKL, RUNX2, and two GWAS lead SNPs rs2908007 and rs4531631., [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": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2515, "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": "Q7Z3L9;Q8IVF3;Q9H8T4", "ec_number_list": "", "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0010719 negative regulation of epithelial to mesenchymal transition", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q68DE3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N806-1", "uniprot_id": "UBR7_HUMAN", "mass": 47999.0, "length": 425, "protein_name": "Putative E3 ubiquitin-protein ligase UBR7", "gene_name": "UBR7", "organism": "Human", "refseq_name": "putative E3 ubiquitin-protein ligase UBR7", "refseq_ac": "NP_786924", "gene_names_uniprotkb": "UBR7; C14orf130", "gene_names_refseq": "C14orf130; LICAS; UBR7", "protein_names_uniprotkb": "Putative E3 ubiquitin-protein ligase UBR7; 2.3.2.27; N-recognin-7; RING-type E3 ubiquitin transferase UBR7", "protein_names_refseq": "N-recognin-7; RING-type E3 ubiquitin transferase UBR7; putative E3 ubiquitin-protein ligase UBR7; ubiquitin protein ligase E3 component n-recognin 7 (putative)", "tax_id": 9606, "disease": "Li-Campeau syndrome (MONDO:MONDO:0030963)", "pathway": " (hsa:55148)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;23186163;23301498;23481700;24275569;24664117;25576301;25645385;25892735;26154972;26992070;27846572;27920218;28063628;28218747;28228285;28649982;28832583;28834231;28860189;29242379;29331515;29393594;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30779550;30833945;30923315;31154438;31530632;31844290;32157095;32161166;32488085;32502341;32897882;32938616;32983136;33141586;33340455;33392160;33571115;33717175;33912179;33981976;34019948;34087483;34185709;34509645;34786730;34932366;35051231;35561310;35580925;36010968;36284347;37938771;38923455", "class_list": "", "function": "E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; NOTCH1-driven UBR7 stimulates nucleotide biosynthesis to promote T cell acute lymphoblastic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Results established UBR7 as a histone H2B monoubiquitin ligase that suppresses tumorigenesis and metastasis of triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; These data provide the first evidence of ubiquitin ligase activity in mammalian spermatozoa and indicate UBR7 involvement in spermiogenesis., [RefSeq, PubMed]; This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]., [RefSeq]; UBR7 acts as a histone chaperone for post-nucleosomal histone H3., [RefSeq, PubMed]; UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism., [RefSeq, PubMed]; UBR7 in concert with EZH2 inhibits the TGF-beta signaling leading to extracellular matrix remodeling., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86U21;Q86UA9;Q96BY0;Q9NVV6", "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;GO:0010498 proteasomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q8N806-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q495M9-1", "uniprot_id": "USH1G_HUMAN", "mass": 51489.0, "length": 461, "protein_name": "pre-mRNA splicing regulator USH1G", "gene_name": "USH1G", "organism": "Human", "refseq_name": "pre-mRNA splicing regulator USH1G isoform 2", "refseq_ac": "NP_001269418", "gene_names_uniprotkb": "USH1G; SANS", "gene_names_refseq": "ANKS4A; SANS; USH1G", "protein_names_uniprotkb": "pre-mRNA splicing regulator USH1G; Scaffold protein containing ankyrin repeats and SAM domain; Usher syndrome type-1G protein", "protein_names_refseq": "Usher syndrome 1G (autosomal recessive); pre-mRNA splicing regulator USH1G isoform 2; pre-mRNA splicing regulator USH1G; scaffold protein containing ankyrin repeats and SAM domain; usher syndrome type-1G protein", "tax_id": 9606, "disease": "Usher syndrome (Disease Ontology:DOID:0050439); Usher syndrome type 1B (Disease Ontology:DOID:0070655); Usher syndrome type 1G (Disease Ontology:DOID:0110834)", "pathway": " (hsa:124590); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 17, "publication_id_list": "10025409;10821263;11163272;11237011;12588794;15660226;16283141;19028668;20142502;21311020;21709241;24608321;25255398;31637240;34023904;38139438;41018975", "class_list": "", "function": "Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in pre-mRNA splicing by regulating the release and transfer of U4/U6.U5 tri-small nuclear ribonucleoprotein (tri-snRNP) complexes from their assembly site in Cajal bodies to nuclear speckles, thereby contributing to the assembly of the pre-catalytic spliceosome on target pre-mRNAs (PubMed:34023904). May also participate in recycling of snRNPs back to Cajal bodies during splicing (PubMed:34023904). Plays a role in regulating MAGI2-mediated endocytosis (PubMed:24608321). Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles. Required for normal hearing., [UniProtKB, PubMed, PubMed, PubMed]; SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes., [RefSeq, PubMed]; This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "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": "Q8N251", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0030507 spectrin binding", "go_cellular_component": "GO:0097733 photoreceptor cell cilium;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0045494 photoreceptor cell maintenance;GO:2000369 regulation of clathrin-dependent endocytosis;GO:0007605 sensory perception of sound;GO:0050953 sensory perception of light stimulus;GO:0050957 equilibrioception", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q495M9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43915-1", "uniprot_id": "VEGFD_HUMAN", "mass": 40444.0, "length": 354, "protein_name": "Vascular endothelial growth factor D", "gene_name": "VEGFD", "organism": "Human", "refseq_name": "vascular endothelial growth factor D preproprotein", "refseq_ac": "NP_004460", "gene_names_uniprotkb": "VEGFD; FIGF", "gene_names_refseq": "FIGF; VEGF-D; VEGFD", "protein_names_uniprotkb": "Vascular endothelial growth factor D; FIGF; VEGF-D; c-Fos-induced growth factor", "protein_names_refseq": "c-fos induced growth factor (vascular endothelial growth factor D); vascular endothelial growth factor D preproprotein", "tax_id": 9606, "disease": "hypophosphatemia (Disease Ontology:DOID:0050336); hereditary hypophosphatemic rickets with hypercalciuria (Disease Ontology:DOID:0050947); infantile hypercalcemia 2 (Disease Ontology:DOID:0061135); hypophosphatemic nephrolithiasis/osteoporosis 1 (Disease Ontology:DOID:0080077); Fanconi renotubular syndrome 2 (Disease Ontology:DOID:0080758); Fanconi syndrome (Disease Ontology:DOID:1062); urinary bladder cancer (Disease Ontology:DOID:11054); hypothyroidism (Disease Ontology:DOID:1459); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); ovarian carcinoma (Disease Ontology:DOID:4001); nephrolithiasis (Disease Ontology:DOID:585); pancreatic intraductal papillary-mucinous neoplasm (Disease Ontology:DOID:7575); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); hyperthyroidism (Disease Ontology:DOID:7998); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:2277); (R-HSA-114608); (R-HSA-194313); (R-HSA-195399)", "pathway_count": 4, "publication_count": 38, "publication_id_list": "10542248;11004490;11387210;11532940;12576440;12871269;12881528;1417831;1435334;14630798;15297306;16534867;16633338;16835467;21148085;22299025;23640497;2479986;28411811;31254127;31986264;32576222;35363168;36869765;37686121;37986336;38350547;6457647;7824266;8467233;8617204;8637916;8700872;9205122;9207067;9435229;9479493;9722576", "class_list": "", "function": "Growth factor active in angiogenesis, lymphangiogenesis and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in the formation of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates VEGFR-2 (KDR/FLK1) and VEGFR-3 (FLT4) receptors., [UniProtKB, PubMed]; S100A6 drives lymphatic metastasis of liver cancer via activation of the RAGE/NF-kB/VEGF-D pathway., [RefSeq, PubMed]; Serum VEGF-D level is correlated with renal dysfunction and proteinuria in patients with diabetic chronic kidney disease., [RefSeq, PubMed]; The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endothelial cell growth. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-2 and VEGFR-3 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor C. Read-through transcription has been observed between this locus and the upstream PIR (GeneID 8544) locus. [provided by RefSeq, Feb 2011]., [RefSeq]; Vascular Endothelial Growth Factor-D (VEGF-D): An Angiogenesis Bypass in Malignant Tumors. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Vascular endothelial growth factor-D plasma levels and VEGFD genetic variants are independently associated with outcomes in patients with cardiovascular disease. Erratum:[Cardiovasc Res. 2023 Jun 13;119(6):1454. doi: 10.1093/cvr/cvad047. PMID: 36972152], [RefSeq, PubMed]; Vascular endothelial growth factor-D plasma levels in fluid overload and cardiac function evaluation of elderly patients with cardiovascular disease., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic; diagnostic", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R7Z3", "ec_number_list": "", "go_molecular_function": "GO:0005161 platelet-derived growth factor receptor binding;GO:0043185 vascular endothelial growth factor receptor 3 binding;GO:0042056 chemoattractant activity;GO:0042802 identical protein binding;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016020 membrane;GO:0031093 platelet alpha granule lumen", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0001666 response to hypoxia;GO:0051781 positive regulation of cell division;GO:0048010 vascular endothelial growth factor receptor signaling pathway;GO:0002040 sprouting angiogenesis", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "O43915-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75445-1", "uniprot_id": "USH2A_HUMAN", "mass": 575600.0, "length": 5202, "protein_name": "Usherin", "gene_name": "USH2A", "organism": "Human", "refseq_name": "usherin isoform B precursor", "refseq_ac": "NP_996816", "gene_names_uniprotkb": "USH2A", "gene_names_refseq": "RP39; US2; USH2A; USH2; dJ1111A8.1", "protein_names_uniprotkb": "Usherin; Usher syndrome type IIa protein; Usher syndrome type-2A protein", "protein_names_refseq": "Usher syndrome 2A (autosomal recessive, mild); usher syndrome type IIa protein; usher syndrome type-2A protein; usherin isoform B precursor", "tax_id": 9606, "disease": "Usher syndrome (Disease Ontology:DOID:0050439); nonsyndromic deafness (Disease Ontology:DOID:0050563); retinitis pigmentosa 39 (Disease Ontology:DOID:0110360); Usher syndrome type 2 (Disease Ontology:DOID:0110827); Usher syndrome type 2A (Disease Ontology:DOID:0110838); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:7399)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "10.1101/2023.09.13.557529;10729113;10738000;10775529;10909849;11311042;11788194;12112664;12427073;12433396;12525556;12786748;14676276;14970843;15015129;15025721;15241801;15325563;16098008;16114888;16301216;16301217;16434480;17081983;17085681;17296898;17360538;17405132;17693683;18273898;18452394;18826961;19615748;19683999;19737284;20309401;20440071;20507924;21248752;21593743;21686329;21835308;22004887;22334370;22898188;23481700;23737954;24227914;24715725;25388789;25418920;26377068;28281779;29508533;29557506;29786170;30379171;31154438;31217245;32157095;32387766;32502341;32897882;32938616;33912179;33968037;35051231;35580925;38253038;39044131;9624053", "class_list": "", "function": "A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy. Publication Status: Online-Only, [RefSeq, PubMed]; A previously unrecognized cysteine rich structural domain was identified, with three missense mutations that result in the loss of one of a pair of the defining cysteine-cysteine pairs., [RefSeq, PubMed]; Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport., [UniProtKB, UniProtKB]; Mutation analysis in 12 unrelated patients with Usher syndrome, each with one mutation in exons 1-21, revealed three different truncating mutations in four patients and two missense mutations in one patient, [RefSeq, PubMed]; This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]., [RefSeq]; Usherin in photoreceptors is tethered via its C terminus to the plasma membrane and its large extracellular domain projects into the periciliary matrix, where they may interact with the connecting cilium to fulfill important structural or signaling roles, [RefSeq, PubMed]", "predicted_glycosites": 68, "predicted_n_glycosites": 65, "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": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 468, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 70, "binding_glycan_count": 0, "secondary_ac_list": "Q5VVM9;Q6S362;Q9NS27", "ec_number_list": "", "go_molecular_function": "GO:0005518 collagen binding;GO:0017022 myosin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0016324 apical plasma membrane;GO:0005604 basement membrane;GO:0002142 stereocilia ankle link complex", "go_biological_process": "GO:0048496 maintenance of animal organ identity;GO:0007601 visual perception;GO:0045494 photoreceptor cell maintenance;GO:0045184 establishment of protein localization;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "O75445-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94874-1", "uniprot_id": "UFL1_HUMAN", "mass": 89595.0, "length": 794, "protein_name": "E3 UFM1-protein ligase 1", "gene_name": "UFL1", "organism": "Human", "refseq_name": "E3 UFM1-protein ligase 1", "refseq_ac": "NP_056138", "gene_names_uniprotkb": "UFL1; KIAA0776; MAXER; NLBP; RCAD", "gene_names_refseq": "KIAA0776; Maxer; NLBP; RCAD; UFL1", "protein_names_uniprotkb": "E3 UFM1-protein ligase 1; 2.3.2.-; E3 UFM1-protein transferase 1; Multiple alpha-helix protein located at ER; Novel LZAP-binding protein; Regulator of C53/LZAP and DDRGK1", "protein_names_refseq": "E3 UFM1-protein ligase 1; E3 UFM1-protein transferase 1; Regulator of CDK5RAP3 and DDRGK1; multiple alpha-helix protein located at ER; novel LZAP-binding protein; regulator of C53/LZAP and DDRGK1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23376); (R-HSA-983168)", "pathway_count": 2, "publication_count": 116, "publication_id_list": "11062501;11350924;12646216;14734113;15224091;15224092;15302935;15571818;16595681;16849449;16954532;17081983;18318008;18662542;19028597;19352404;19452197;19489725;19651622;19851334;19874575;19940261;20018847;20068231;20164180;20228063;20531390;21406692;22223895;2261476;23152784;23481700;24275569;24397554;25219498;25418920;25576301;25645385;25892735;26375851;26811146;26929215;26992070;27351204;28063628;28228285;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29769354;29786170;30315122;30354401;30429286;30484775;30626644;30779550;30783677;30886146;31154438;31217245;31530632;31844290;31848261;32050156;32157095;32160526;32161166;32350084;32357974;32387766;32807901;32897882;32938616;32983136;33298915;33592498;33691108;33912179;33968037;34087483;34357683;34509645;34561969;35051231;35318648;35394863;35561310;35580925;35753586;36010968;36121123;36241641;36284347;36543799;36893266;37036982;37311461;37595036;37795761;37938771;37988244;38377992;38383785;38383789;9380723;9668046", "class_list": "", "function": "E3 protein ligase that mediates ufmylation, the covalent attachment of the ubiquitin-like modifier UFM1 to lysine residues on target proteins, and which plays a key role in various processes, such as ribosome recycling, response to DNA damage, interferon response or reticulophagy (also called ER-phagy) (PubMed:20018847, PubMed:20164180, PubMed:20228063, PubMed:25219498, PubMed:27351204, PubMed:30626644, PubMed:30783677, PubMed:32160526, PubMed:32807901, PubMed:35394863, PubMed:36121123, PubMed:36543799, PubMed:36893266, PubMed:37036982, PubMed:37311461, PubMed:37595036, PubMed:37795761, PubMed:38377992, PubMed:38383785, PubMed:38383789). Catalyzes ufmylation of many protein, such as CD274/PD-L1, CDK5RAP3, CYB5R3, DDRGK1, EIF6, histone H4, MRE11, P4HB, PDCD1/PD-1, TRIP4, RPN1, RPS20/uS10, RPL10/uL16, RPL26/uL24, SYVN1/HRD1 and TP53/p53 (PubMed:20018847, PubMed:20531390, PubMed:25219498, PubMed:30783677, PubMed:30886146, PubMed:32160526, PubMed:35753586, PubMed:36543799, PubMed:36893266, PubMed:37036982, PubMed:37595036, PubMed:37795761, PubMed:38383785, PubMed:38383789). As part of the UREL complex, plays a key role in ribosome recycling by catalyzing mono-ufmylation of RPL26/uL24 subunit of the 60S ribosome (PubMed:38383785, PubMed:38383789). Ufmylation of RPL26/uL24 occurs on free 60S ribosomes following ribosome dissociation: it weakens the junction between post-termination 60S subunits and SEC61 translocons, promoting release and recycling of the large ribosomal subunit from the endoplasmic reticulum membrane (PubMed:38383785, PubMed:38383789). Ufmylation of RPL26/uL24 and subsequent 60S ribosome recycling either take place after normal termination of translation or after ribosome stalling during cotranslational translocation at the endoplasmic reticulum (PubMed:37036982, PubMed:37595036, PubMed:38383785, PubMed:38383789). Involved in reticulophagy in response to endoplasmic reticulum stress by mediating ufmylation of proteins such as CYB5R3 and RPN1, thereby promoting lysosomal degradation of ufmylated proteins (PubMed:23152784, PubMed:32160526, PubMed:36543799). Ufmylation in response to endoplasmic reticulum stress is essential for processes such as hematopoiesis, blood vessel morphogenesis or inflammatory response (PubMed:32050156). Mediates ufmylation of DDRGK1 and CDK5RAP3; the role of these modifications is however unclear: as both DDRGK1 and CDK5RAP3 act as substrate adapters for ufmylation, it is uncertain whether ufmylation of these proteins is, a collateral effect or is required for ufmylation (PubMed:20018847, PubMed:20531390). Acts as a negative regulator of T-cell activation by mediating ufmylation and stabilization of PDCD1/PD-1 (PubMed:38377992). Also involved in the response to DNA damage: recruited to double-strand break sites following DNA damage and mediates monoufmylation of histone H4 and ufmylation of MRE11 (PubMed:30783677, PubMed:30886146). Mediates ufmylation of TP53/p53, promoting its stability (PubMed:32807901). Catalyzes ufmylation of TRIP4, thereby playing a role in nuclear receptor-mediated transcription (PubMed:25219498). Required for hematopoietic stem cell function and hematopoiesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "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": 19, "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": "A0PJ53;B4DJ57;C0H5X5;Q8N765;Q9NTQ0", "ec_number_list": "2.3.2.24;2.3.2.23;2.3.2.26;2.3.2.27;2.3.2.31;2.3.2.-;6.2.1.-;2.3.2.34;2.3.2.32;3.6.4.-;2.3.2.25;2.3.2.36;2.7.11.1", "go_molecular_function": "GO:0071568 UFM1 transferase activity;GO:0019901 protein kinase binding;GO:0061666 UFM1 ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0032790 ribosome disassembly;GO:0006281 DNA repair;GO:0008284 positive regulation of cell population proliferation;GO:0060218 hematopoietic stem cell differentiation", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "O94874-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94966-1", "uniprot_id": "UBP19_HUMAN", "mass": 145651.0, "length": 1318, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 19", "gene_name": "USP19", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 19 isoform 1", "refseq_ac": "NP_001186089", "gene_names_uniprotkb": "USP19; KIAA0891; ZMYND9", "gene_names_refseq": "USP19; ZMYND9", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 19; 3.4.19.12; Deubiquitinating enzyme 19; Ubiquitin thioesterase 19; Ubiquitin-specific-processing protease 19; Zinc finger MYND domain-containing protein 9", "protein_names_refseq": "deubiquitinating enzyme 19; ubiquitin carboxyl-terminal hydrolase 19 isoform 1; ubiquitin carboxyl-terminal hydrolase 19; ubiquitin specific protease 19; ubiquitin thioesterase 19; ubiquitin thiolesterase 19; ubiquitin-specific-processing protease 19; zinc finger MYND domain-containing protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:10869); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 131, "publication_id_list": "10444327;10982817;11237011;11566882;11923872;12917689;12917691;14661020;15053880;15302935;15916963;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;18669648;19015242;19135894;19188362;19363159;19398555;19424180;19465887;19838211;19874889;19910467;20068231;20096447;20228808;20368735;20501646;21239494;21264218;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;22424782;22689415;23159851;23186163;23301498;23395819;23481700;23486064;23824326;23825189;24056413;24260525;24356957;24493797;24714562;24715725;24896179;25197364;25305019;25418920;25576301;25578727;25645385;26154972;26375851;26728094;26811146;26929215;26992070;27846572;27862975;28904123;29493099;29557506;30410026;30484775;31127032;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33094816;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33978709;33981976;34087483;34171305;34185709;34211107;34405274;34509645;34561969;34932366;35051231;35318648;35561310;35580925;35987969;36010968;36215666;36241641;36284347;36646950;37832781;37938771;38943386;40914422;7578059", "class_list": "", "function": "Ability of USP19 to regulate cell proliferation and p27(Kip1) levels; complete loss of USP19 function on cell growth may arise as a result of oncogenic transformation of cells. Publication Status: Online-Only, [RefSeq, PubMed]; Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants. Publication Status: Online-Only, [RefSeq, PubMed]; Deubiquitinating Enzyme USP19 Regulates Ferroptosis and Mitochondrial Damage in SH-SY5Y Cells by Targeting the NOX4 Protein., [RefSeq, PubMed]; Deubiquitinating enzyme that regulates the degradation of various proteins by removing ubiquitin moieties, thereby preventing their proteasomal degradation. Stabilizes RNF123, which promotes CDKN1B degradation and contributes to cell proliferation (By similarity). Decreases the levels of ubiquitinated proteins during skeletal muscle formation and acts to repress myogenesis. Modulates transcription of major myofibrillar proteins. Also involved in turnover of endoplasmic-reticulum-associated degradation (ERAD) substrates (PubMed:19465887, PubMed:24356957). Mechanistically, deubiquitinates and thereby stabilizes several E3 ligases involved in the ERAD pathway including SYVN1 or MARCHF6 (PubMed:24356957). Regulates the stability of other E3 ligases including BIRC2/c-IAP1 and BIRC3/c-IAP2 by preventing their ubiquitination (PubMed:21849505). Required for cells to mount an appropriate response to hypoxia by rescuing HIF1A from degradation in a non-catalytic manner and by mediating the deubiquitination of FUNDC1 (PubMed:22128162, PubMed:33978709). Attenuates mitochondrial damage and ferroptosis by targeting and stabilizing NADPH oxidase 4/NOX4 (PubMed:38943386). Negatively regulates TNF- and IL-1beta-triggered NF-kappa-B activation by hydrolyzing 'Lys-27'- and 'Lys-63'-linked polyubiquitin chains from MAP3K7 (PubMed:31127032). Modulates also the protein level and aggregation of polyQ-expanded huntingtin/HTT through HSP90AA1 (PubMed:33094816)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed]; Opposing USP19 splice variants in TGF-beta signaling and TGF-beta-induced epithelial-mesenchymal transition of breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This protein is a ubiquitin protein ligase and plays a role in muscle wasting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]., [RefSeq]; The USP19 deubiquitinase regulates the stability of c-IAP1 and c-IAP2., [RefSeq, PubMed]; The deubiquitinating enzyme USP19 facilitates hepatocellular carcinoma progression through stabilizing YAP., [RefSeq, PubMed]; USP19 is the first example of a membrane-anchored deubiquitinating enzymes involved in the turnover of endoplasmic-reticulum-associated degradation substrates., [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": 4, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "A5PKX8;A6H8U2;B4DGT3;B4DTZ0;E7EN22;E7ETS0;E9PEG8;Q3KQW4;Q641Q9;Q6NZY8;Q86XV9", "ec_number_list": "3.4.19.12;2.3.2.27", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0051879 Hsp90 protein binding;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:1904292 regulation of ERAD pathway;GO:0016579 protein deubiquitination;GO:0050821 protein stabilization;GO:0031647 regulation of protein stability;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "O94966-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95164-1", "uniprot_id": "UBL3_HUMAN", "mass": 13157.0, "length": 117, "protein_name": "Ubiquitin-like protein 3", "gene_name": "UBL3", "organism": "Human", "refseq_name": "ubiquitin-like protein 3", "refseq_ac": "NP_009037", "gene_names_uniprotkb": "UBL3; PNSC1", "gene_names_refseq": "HCG-1; PNSC1; UBL3", "protein_names_uniprotkb": "Ubiquitin-like protein 3; HsMUB; MUB; Membrane-anchored ubiquitin-fold protein; Protein HCG-1", "protein_names_refseq": "MUB; hsMUB; membrane-anchored ubiquitin-fold protein; protein HCG-1; ubiquitin-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:5412)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10375635;11230166;16831869;17567738;20068231;25418920;25645385;25880248;26992070;27600516;27846572;27862975;28832583;28855257;28904123;29242379;29393594;29493099;29557506;29632711;30429286;31154438;31844290;32157095;32296577;32357974;32983136;33592498;33912179;33981976;34357683;35051231;35154160;35197392;35580925;36284347;36672247", "class_list": "", "function": "Identification of a potential tumor suppressor gene, UBL3, in non-small cell lung cancer., [RefSeq, PubMed]; PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin-like 3 as a new protein-sorting factor for small extracellular vesicles. 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": 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": "B2R4J1;Q5RL72;Q5VZS0;Q6FIG8;Q96SG7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "O95164-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95670-1", "uniprot_id": "VATG2_HUMAN", "mass": 13604.0, "length": 118, "protein_name": "V-type proton ATPase subunit G 2", "gene_name": "ATP6V1G2", "organism": "Human", "refseq_name": "V-type proton ATPase subunit G 2 isoform c", "refseq_ac": "NP_001191007", "gene_names_uniprotkb": "ATP6V1G2; ATP6G2; ATP6G; NG38", "gene_names_refseq": "ATP6G2; ATP6G; ATP6V1G2; NG38; VMA10", "protein_names_uniprotkb": "V-type proton ATPase subunit G 2; V-ATPase 13 kDa subunit 2; V-ATPase subunit G 2; Vacuolar proton pump subunit G 2", "protein_names_refseq": "ATPase, H+ transporting, lysosomal (vacuolar proton pump); ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2; H(+)-transporting two-sector ATPase, subunit G2; V-ATPase 13 kDa subunit 2; V-type proton ATPase subunit G 2 isoform c; V-type proton ATPase subunit G 2; vacuolar ATP synthase subunit G 2; vacuolar proton pump G subunit 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:534); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712)", "pathway_count": 6, "publication_count": 85, "publication_id_list": "10.1101/2023.09.13.557529;10029572;10202016;10409623;10802645;11237011;11237855;11779865;11800564;11970843;12384298;12531241;15854902;15878852;16098514;16227996;16271887;16564538;16574064;16609065;16702430;16793765;17051221;17081065;17470430;17662945;17729390;18406720;18497260;18604198;18794901;19089323;19321446;20134026;20381137;21124855;22053050;22087256;22575674;22980980;23723238;24081491;24095279;25259925;25263562;25457612;25561175;25567906;25819761;26205815;26449471;26586190;26972053;27308486;27487210;27648300;28066558;28199306;28199315;2825632;2848506;29053970;29056322;29123071;29236692;29557506;29596046;2986535;30061680;30181260;30337524;3061785;30651352;6141558;6309857;7499430;7929063;7980580;8300632;8537108;8682206;8995282;9465039;9609117;9793760", "class_list": "", "function": "Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) 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": 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": 3, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B5MEF0;Q2L6F8;Q5HYU8;Q5RJ63", "ec_number_list": "", "go_molecular_function": "GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0098850 extrinsic component of synaptic vesicle membrane;GO:0005829 cytosol;GO:0042470 melanosome;GO:0030665 clathrin-coated vesicle membrane;GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:0016241 regulation of macroautophagy;GO:0097401 synaptic vesicle lumen acidification", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "O95670-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P00749-1", "uniprot_id": "UROK_HUMAN", "mass": 48523.0, "length": 431, "protein_name": "Urokinase-type plasminogen activator", "gene_name": "PLAU", "organism": "Human", "refseq_name": "urokinase-type plasminogen activator isoform 2", "refseq_ac": "NP_001138503", "gene_names_uniprotkb": "PLAU", "gene_names_refseq": "ATF; BDPLT5; PLAU; QPD; UPA; URK; u-PA", "protein_names_uniprotkb": "Urokinase-type plasminogen activator; 3.4.21.73; U-plasminogen activator; Urokinase; uPA", "protein_names_refseq": "U-plasminogen activator; plasminogen activator, urinary; urokinase-type plasminogen activator isoform 2; urokinase-type plasminogen activator", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); thrombosis (Disease Ontology:DOID:0060903); Alzheimer's disease 1 (Disease Ontology:DOID:0080348); urolithiasis (Disease Ontology:DOID:0080653); Quebec platelet disorder (Disease Ontology:DOID:0111050); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); urinary bladder cancer (Disease Ontology:DOID:11054); adult respiratory distress syndrome (Disease Ontology:DOID:11394); sciatic neuropathy (Disease Ontology:DOID:11446); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); breast cancer (Disease Ontology:DOID:1612); squamous cell carcinoma (Disease Ontology:DOID:1749); status epilepticus (Disease Ontology:DOID:1824); atherosclerosis (Disease Ontology:DOID:1936); hepatitis B (Disease Ontology:DOID:2043); transient cerebral ischemia (Disease Ontology:DOID:224); transitional cell carcinoma (Disease Ontology:DOID:2671); asthma (Disease Ontology:DOID:2841); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pulmonary fibrosis (Disease Ontology:DOID:3770); pleural empyema (Disease Ontology:DOID:3798); lung non-small cell carcinoma (Disease Ontology:DOID:3908); papillary thyroid carcinoma (Disease Ontology:DOID:3969); renal cell carcinoma (Disease Ontology:DOID:4450); brain edema (Disease Ontology:DOID:4724); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); peritonitis (Disease Ontology:DOID:8283); appendicitis (Disease Ontology:DOID:8337); steatotic liver disease (Disease Ontology:DOID:9452); meningitis (Disease Ontology:DOID:9471); mitral valve prolapse (Disease Ontology:DOID:988)", "pathway": " (hsa:5328); (R-HSA-6798695); (R-HSA-75205)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10.1038/emboj.2013.79;10340997;10636902;10805774;11237011;11384978;12007600;1327118;134998;1468573;14696115;15053742;15988036;16456079;17666018;1829461;1846368;18987736;1969415;20007542;2023947;2124546;2156852;2166055;21925150;23090970;2318848;23193360;23483454;23584533;23650620;2393398;2415429;24190977;2440681;24434139;24900876;2496749;2503541;2521625;2536903;25418920;2544876;28849762;2935528;2962641;2987867;3011081;3023326;30315122;3090045;32265295;33043033;3501295;37074911;38663475;38665916;38669542;38702016;3888571;39197889;4270330;6433976;6448849;6589620;6749491;6754569;6754572;7199524;8107091;8161544;8462541;8591045;8652631;8692836;9065988;9151681;9194591;9414276;9886297", "class_list": "", "function": "Bioinformatics Analysis of the Expression and Prognostic Value of PLAU Gene in Wilms' Tumor., [RefSeq, PubMed]; Gene Association Study of the Urokinase Plasminogen Activator and Its Receptor Gene in Alzheimer's Disease., [RefSeq, PubMed]; PLAU promotes cell proliferation and migration of head and neck cancer via STAT3 signaling pathway., [RefSeq, PubMed]; PLAU, transcriptionally negatively regulated by GATA6, promotes lung squamous carcinoma cell proliferation and migration., [RefSeq, PubMed]; Serine protease that cleaves the inactive precursor plasminogen at a specific Arg-Val peptide bond, converting it into active plasmin (PubMed:1969415, PubMed:2521625, PubMed:4270330). Secreted as an inactive zymogen, it is recruited and activated at the cell surface through interaction with the urokinase plasminogen activator receptor (uPAR). Cell-surface activation enables localized, plasmin-dependent pericellular proteolysis, regulating extracellular matrix degradation in cell migration and tissue remodeling (PubMed:1829461, PubMed:2521625, PubMed:28849762). Also contributes to fibrinolysis and blood clot clearance by promoting plasmin generation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Specifically cleaves the zymogen plasminogen to form the active enzyme plasmin., [UniProtKB, UniProtKB]; This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer's disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [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": 1, "reported_o_glycosites": 1, "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": 9, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 19, "disease_count": 36, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DPZ2;Q15844;Q16618;Q53XS3;Q5SWW9;Q969W6", "ec_number_list": "3.4.24.81;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.51;1.14.19.17;5.2.1.-;3.2.1.20;2.3.1.20;2.3.1.76;2.7.11.1;3.4.21.73;3.6.5.2;1.6.3.-;3.1.3.48;1.14.14.18;1.2.1.5;1.2.1.28;1.2.1.7;1.2.1.48;3.4.24.-;7.6.2.1;3.2.2.6;1.1.1.-;3.1.4.4;2.3.2.27;2.3.1.78", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface", "go_biological_process": "GO:0033628 regulation of cell adhesion mediated by integrin;GO:0038195 urokinase plasminogen activator signaling pathway;GO:0061041 regulation of wound healing;GO:2000097 regulation of smooth muscle cell-matrix adhesion;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "P00749-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04818-1", "uniprot_id": "TYSY_HUMAN", "mass": 35716.0, "length": 313, "protein_name": "Thymidylate synthase", "gene_name": "TYMS", "organism": "Human", "refseq_name": "thymidylate synthase isoform 1", "refseq_ac": "NP_001062", "gene_names_uniprotkb": "TYMS; SW-cl.29; TS", "gene_names_refseq": "DKCD; HST422; TMS; TS; TYMS", "protein_names_uniprotkb": "Thymidylate synthase; 2.1.1.45; TSase; TS", "protein_names_refseq": "TSase; thymidylate synthase isoform 1", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); digenic dyskeratosis congenita (Disease Ontology:DOID:0060984); urinary bladder cancer (Disease Ontology:DOID:11054); colon carcinoma (Disease Ontology:DOID:1520); cancer (Disease Ontology:DOID:162); cerebral infarction (Disease Ontology:DOID:3526); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); abdominal aortic aneurysm (Disease Ontology:DOID:7693); acute myeloid leukemia (Disease Ontology:DOID:9119); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:7298); (R-HSA-499943); (R-HSA-69205)", "pathway_count": 3, "publication_count": 187, "publication_id_list": "10.1101/2023.09.13.557529;10215863;10228158;10453732;10454584;10597240;10618642;10692433;10716435;10799505;10884394;10899599;11277919;11278511;11329255;11517226;11796141;11912132;11959842;11988738;12084460;12706868;12782299;12972261;13211603;14729598;14990995;15014447;15116427;15510213;15592455;15630091;16179339;16373698;16756507;16820675;17320107;177353;17824959;18067453;18446792;18469;1851158;18635542;18997010;19176520;19220460;19615748;19690332;19766732;20068231;20112406;21080915;211388;211390;21876188;22235121;22424782;2243092;22544926;22847445;22898188;23186163;23301498;23416111;24714562;24715725;2532645;2542324;25502872;25576301;25645385;25810538;25880248;25892735;26031574;26154972;2656695;2668278;26929215;26992070;27600516;27846572;27920218;28063628;28228285;28446606;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;2987839;30315122;30410026;30429286;30524438;30779550;31092671;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34433824;34509645;34725712;34845374;34932366;35051231;35251023;35318648;35561310;35580925;35931051;36010968;36215666;36241641;36284347;36581221;37628769;3839505;39179085;40596516;40615;5484814;6182143;6248551;7623816;7685356;7851394;7929342;8114698;8288595;8448179;8618861;8663313;8845352;8943353;9020173;9488696;9520412;9635586;9662327;9677297;9778043", "class_list": "", "function": "Association of Thymidylate Synthase (TS) Gene Polymorphisms with Incidence and Prognosis of Coronary Artery Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the reductive methylation of 2'-deoxyuridine 5'-monophosphate (dUMP) to thymidine 5'-monophosphate (dTMP), using the cosubstrate, 5,10- methylenetetrahydrofolate (CH2H4folate) as a 1-carbon donor and reductant and contributes to the mitochondrial and nuclear de novo thymidylate biosynthesis pathway., [UniProtKB, PubMed, PubMed, PubMed]; LncRNA BC200 promotes the development of EBV-associated nasopharyngeal carcinoma by competitively binding to miR-6834-5p to upregulate TYMS expression., [RefSeq, PubMed]; RTS gene expression likely plays a role in down-regulating TS through a natural RNA-based antisense mechanism. Review. Review article, [RefSeq, PubMed]; Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occurring antisense transcript, mitochondrial enolase superfamily member 1 (GeneID:55556), vary inversely when cell-growth progresses from late-log to plateau phase. Polymorphisms in this gene may be associated with etiology of neoplasia, including breast cancer, and response to chemotherapy. [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": 2, "mined_n_glycosites": 0, "mined_o_glycosites": 2, "mined_c_glycosites": 0, "mined_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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 12, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8WYK3;Q8WYK4", "ec_number_list": "2.1.1.45", "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:1990825 sequence-specific mRNA binding;GO:0004799 thymidylate synthase activity;GO:0005542 folic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0071897 DNA biosynthetic process;GO:0006231 dTMP biosynthetic process;GO:0006260 DNA replication;GO:0017148 negative regulation of translation;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "P04818-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P36543-1", "uniprot_id": "VATE1_HUMAN", "mass": 26145.0, "length": 226, "protein_name": "V-type proton ATPase subunit E 1", "gene_name": "ATP6V1E1", "organism": "Human", "refseq_name": "V-type proton ATPase subunit E 1 isoform b", "refseq_ac": "NP_001034455", "gene_names_uniprotkb": "ATP6V1E1; ATP6E2; ATP6E", "gene_names_refseq": "ARCL2C; ATP6E2; ATP6E; ATP6V1E1; ATP6V1E; P31; Vma4", "protein_names_uniprotkb": "V-type proton ATPase subunit E 1; V-ATPase 31 kDa subunit; V-ATPase subunit E 1; Vacuolar proton pump subunit E 1; p31", "protein_names_refseq": "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1; H(+)-transporting two-sector ATPase, 31kDa subunit; H+-transporting ATP synthase chain E, vacuolar; V-ATPase 31 kDa subunit; V-ATPase subunit E 1; V-ATPase, subunit E; V-type proton ATPase subunit E 1 isoform b; V-type proton ATPase subunit E 1; vacuolar proton pump subunit E 1", "tax_id": 9606, "disease": "autosomal recessive cutis laxa type IIC (Disease Ontology:DOID:0070140)", "pathway": " (hsa:529); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712); (R-HSA-9857377)", "pathway_count": 7, "publication_count": 164, "publication_id_list": "10029572;10409623;10802645;11237011;11237855;11399750;11779865;11800564;11970843;12036578;12531241;1533641;15854902;15878852;16098514;16227996;16271887;16564538;16574064;16609065;16793765;16959974;17051221;17470430;17662945;17729390;18292551;18406720;18477386;18497260;18604198;18794901;19089323;19321446;20134026;20381137;20717956;21124855;22053050;22087256;22575674;22980980;23401004;23723238;24081491;24095279;24714562;25259925;25263562;25418920;25457612;25561175;25567906;25576301;25645385;25819761;26154972;26205815;26375851;26449471;26586190;26811146;26929215;26972053;26992070;27308486;27384996;27452731;27487210;27600516;27648300;27846572;27920218;28065471;28066558;28199306;28199315;28228285;2825632;28467828;2848506;28514659;28832583;28834231;28904123;29053970;29056322;29123071;29236692;29242379;29331515;29393594;29493099;29508533;29557506;29596046;29632046;29786170;29789417;2986535;29993276;30061680;30181260;30254208;30315122;30337524;30379171;30484775;30573663;3061785;30651352;30779550;30833945;31154438;31530632;31844290;31848261;31998317;32001091;32157095;32161166;32265295;32350084;32387766;32488085;32897882;32938616;32983136;33043033;33065002;33141586;33592498;33717175;33912179;33936100;33968037;34143769;34171305;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;39695235;40596516;6141558;6309857;7499430;7929063;7980580;8004105;8250920;8300632;8537108;8682206;8995282;9465039;9609117;9793760", "class_list": "", "function": "Expression of the V-ATPase V1E1 has prognostic significance in esophageal squamous cell carcinoma, and is closely linked to migration, invasion, and aerobic glycolysis in esophageal cancer cells, [RefSeq, PubMed]; Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures. Publication Status: Online-Only, [RefSeq, PubMed]; Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; We report biallelic mutations in ATP6V1E1 and ATP6V1A, respectively encoding the E1 and A subunits of the V1 domain of V-ATPase, as a cause of distinct metabolic and multisystemic cutis laxa entities. Erratum:[Am J Hum Genet. 2020 Aug 6;107(2):374. doi: 10.1016/j.ajhg.2020.07.013. PMID: 32763190], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MUE4;A8MUN4", "ec_number_list": "", "go_molecular_function": "GO:0051117 ATPase binding;GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0016469 proton-transporting two-sector ATPase complex;GO:0005768 endosome;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0016241 regulation of macroautophagy;GO:0097401 synaptic vesicle lumen acidification;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "P36543-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P38606-1", "uniprot_id": "VATA_HUMAN", "mass": 68304.0, "length": 617, "protein_name": "V-type proton ATPase catalytic subunit A", "gene_name": "ATP6V1A", "organism": "Human", "refseq_name": "V-type proton ATPase catalytic subunit A", "refseq_ac": "NP_001681", "gene_names_uniprotkb": "ATP6V1A; ATP6A1; ATP6V1A1; VPP2", "gene_names_refseq": "ARCL2D; ATP6A1; ATP6V1A1; ATP6V1A; DEE93; HO68; IECEE3; VA68; VPP2; Vma1", "protein_names_uniprotkb": "V-type proton ATPase catalytic subunit A; 7.1.2.2; V-ATPase 69 kDa subunit; V-ATPase subunit A; Vacuolar ATPase isoform VA68; Vacuolar proton pump subunit alpha", "protein_names_refseq": "ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A; ATPase, H+ transporting, lysosomal, subunit A1; H(+)-transporting two-sector ATPase, subunit A; H+-transporting ATPase chain A, vacuolar (VA68 type); V-ATPase 69 kDa subunit 1; V-ATPase A subunit 1; V-ATPase subunit A; V-type proton ATPase (V-ATPase) catalytic subunit A; V-type proton ATPase catalytic subunit A; vacuolar proton pump alpha subunit 1; vacuolar proton pump subunit alpha; vacuolar-type H(+)-ATPase", "tax_id": 9606, "disease": "autosomal recessive cutis laxa type IID (Disease Ontology:DOID:0070129); developmental and epileptic encephalopathy 93 (Disease Ontology:DOID:0112275)", "pathway": " (hsa:523); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712); (R-HSA-9857377)", "pathway_count": 7, "publication_count": 205, "publication_id_list": "10029572;10409623;10802645;10931946;11237011;11237855;11779865;11800564;11970843;12531241;15854902;15878852;16098514;16227996;16271887;16564538;16574064;16609065;16793765;17051221;17470430;17662945;17729390;18406720;18497260;18604198;18794901;19089323;19321446;20068231;20134026;20381137;20525692;21124855;21136679;22053050;22087256;22299025;22424782;22575674;22980980;23035048;23186163;23301498;23401004;23481700;23723238;24081491;24095279;24714562;24715725;25259925;25263562;25457612;25505266;25561175;25567906;25576301;25645385;25819761;25880248;26154972;26205815;26375851;26449471;26586190;26728094;26758079;26768311;26972053;26992070;27308486;27397612;27452731;27487210;27600516;27648300;27726376;27846572;27862975;27920218;28065471;28066558;28199306;28199315;28218747;28228285;2825632;28296633;28467828;2848506;28514659;28657654;28832583;28834231;28904123;29053970;29056322;29123071;29236692;29237092;29242379;29331515;29371260;29393594;29437277;29493099;29508533;29557506;29596046;29632711;29668857;29786170;2986535;30059200;30061680;30181260;30254208;30315122;30337524;30410026;30429286;30484775;30524438;30573663;3061785;30651352;30779550;31020640;31154438;31492838;31786107;31844290;31848261;31937595;31998317;32001091;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33065002;33141586;33208464;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34229054;34357683;34405274;34509645;34561969;34725712;34932366;35008409;35051231;35154160;35251023;35254053;35318648;35580925;35675510;36010968;36215666;36241641;36284347;36748335;37217939;37574426;37938771;38253038;38665916;39336810;40307207;40596516;40914422;6141558;6309857;7499430;7929063;7980580;8300632;8463241;8537108;8682206;8995282;9465039;9609117;9793760", "class_list": "", "function": "(Microbial infection) Plays an important role in virion uncoating during Rabies virus replication after membrane fusion. Specifically, participates in the dissociation of incoming viral matrix M proteins uncoating through direct interaction., [UniProtKB, PubMed]; ATP6V1A variants are associated with childhood epilepsy with favorable outcome., [RefSeq, PubMed]; Catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:8463241, PubMed:22053050). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it promotes acidification of the extracellular environment (PubMed:32001091). The V-ATPase complex also acts as an activator for mTORC1 on lysosomal membrane by promoting the guanine nucleotide exchange factor (GEF) of the Ragulator complex, thereby enabling mTORC1 recruitment (PubMed:22053050). In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). May play a role in neurite development and synaptic connectivity (PubMed:29668857)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Hypoxia promotes EV secretion by impairing lysosomal homeostasis in HNSCC through negative regulation of ATP6V1A by HIF-1alpha. Erratum:[J Extracell Vesicles. 2023 Jun;12(6):e12330. doi: 10.1002/jev2.12330. PMID: 37243398], [RefSeq, PubMed]; Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis., [RefSeq, PubMed]; This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation 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": 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": 2, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RBR8;B7Z1R5;D3DN75;Q53YD9;Q96DY6;Q9UHY3", "ec_number_list": "7.1.2.2;2.7.10.2;2.7.11.1;1.11.1.-;3.6.5.-;2.1.1.-;2.3.2.27", "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0098850 extrinsic component of synaptic vesicle membrane;GO:0016469 proton-transporting two-sector ATPase complex;GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0016241 regulation of macroautophagy;GO:0046034 ATP metabolic process;GO:0048388 endosomal lumen acidification;GO:0007042 lysosomal lumen acidification", "synthesized_glycan_count": 0, "hit_score": 21.3, "record_id": "P38606-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P55089-1", "uniprot_id": "UCN1_HUMAN", "mass": 13458.0, "length": 124, "protein_name": "Urocortin", "gene_name": "UCN", "organism": "Human", "refseq_name": "urocortin preproprotein", "refseq_ac": "NP_003344", "gene_names_uniprotkb": "UCN", "gene_names_refseq": "UCN1; UCN; UI; UROC", "protein_names_uniprotkb": "Urocortin", "protein_names_refseq": "prepro-urocortin; urocortin preproprotein; urocortin, preproprotein", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); Parkinsonism (Disease Ontology:DOID:0080855); hypertension (Disease Ontology:DOID:10763); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); thromboangiitis obliterans (Disease Ontology:DOID:12918); dilated cardiomyopathy (Disease Ontology:DOID:12930); asthma (Disease Ontology:DOID:2841); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:7349); (R-HSA-373080); (R-HSA-422085)", "pathway_count": 3, "publication_count": 55, "publication_id_list": "10097073;10604470;10690896;11089560;11297558;11600536;11756331;12050285;12098667;12354137;12414809;12553549;12559132;14599721;15126574;15142980;15256494;15498814;15531481;15604212;16602827;17289852;17595255;18052377;18234674;18396350;18443287;18801728;19280057;19327128;19628676;20966082;24290358;26350463;29632046;32004470;32452055;35276788;35580925;3616618;36335102;39894887;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9064337;9628819", "class_list": "", "function": "Hormone that plays a central role in whole body adaptation to stress (PubMed:20966082, PubMed:24290358, PubMed:32004470, PubMed:36335102, PubMed:8612563). Released by the hypothalamus primarily in response to physical or psychological stress and acts by binding to CRH receptors CRHR1 and CRHR2 (PubMed:24290358, PubMed:26350463, PubMed:32004470, PubMed:36335102, PubMed:8612563). UCN-dependent signaling is a primary mediator of the neuroendocrine, autonomic (fight-or-flight) and behavioral responses to stress, acting as a key regulator of adaptation by activating the hypothalamus-pituitary-adrenal axis, leading to corticotropin hormone (ACTH) production (PubMed:8612563). Plays a role in the establishment of normal hearing thresholds (By similarity). Reduces food intake and regulates ghrelin levels in gastric body and plasma (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Identification of a four immune-related genes signature based on an immunogenomic landscape analysis of clear cell renal cell carcinoma., [RefSeq, PubMed]; This gene encodes a member of the sauvagine/corticotropin-releasing factor/urotensin I family. The encoded preproprotein is proteolytically processed to generate the mature peptide, an endogenous ligand for both corticotropin-releasing factor receptor 1 and corticotropin-releasing factor receptor 2. In the brain this peptide may be responsible for the effects of stress on appetite. This peptide may also play a role in mood disorders, neurodegeneration, and skeletal system disorders. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin-2. [provided by RefSeq, Feb 2016]., [RefSeq]; Urocortin Neuropeptide Levels Are Impaired in the PBMCs of Overweight Children. 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": 4, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6FG64", "ec_number_list": "", "go_molecular_function": "GO:0046811 histone deacetylase inhibitor activity;GO:0005184 neuropeptide hormone activity;GO:0051430 corticotropin-releasing hormone receptor 1 binding;GO:0051431 corticotropin-releasing hormone receptor 2 binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0030425 dendrite;GO:0043204 perikaryon;GO:0043679 axon terminus;GO:0043196 varicosity", "go_biological_process": "GO:0001964 startle response;GO:2000252 negative regulation of feeding behavior;GO:0006979 response to oxidative stress;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "P55089-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16831-1", "uniprot_id": "UPP1_HUMAN", "mass": 33934.0, "length": 310, "protein_name": "Uridine phosphorylase 1", "gene_name": "UPP1", "organism": "Human", "refseq_name": "uridine phosphorylase 1 isoform a", "refseq_ac": "NP_001274355", "gene_names_uniprotkb": "UPP1; UP", "gene_names_refseq": "UDRPASE; UPASE; UPP1; UPP; UP", "protein_names_uniprotkb": "Uridine phosphorylase 1; 2.4.2.3; UPase 1; UrdPase 1", "protein_names_refseq": "UPase 1; urdPase 1; uridine phosphorylase 1 isoform a", "tax_id": 9606, "disease": "middle cerebral artery infarction (Disease Ontology:DOID:3525)", "pathway": " (hsa:7378); (R-HSA-73614); (R-HSA-73621)", "pathway_count": 3, "publication_count": 86, "publication_id_list": "10364222;1063125;10681516;10899995;10989446;11083867;11133996;11237011;11306702;11807789;12084455;12115385;12124385;12199906;12352955;12429345;12808445;12849978;12947102;13737038;1406603;14609716;14725767;15130468;15385443;15689149;15733844;1590793;1597187;16377327;18991276;19291308;195585;19664994;1996353;20018850;2026611;20722631;20856879;2129526;2157703;2344353;2539852;2542307;2548513;25645385;27600516;27862975;2826576;2844225;28832583;28834231;28904123;29242379;30779550;31844290;32157095;32488085;32583596;32864839;32938616;32983136;33123756;3335503;33592498;3372530;33968037;33981976;34171305;34725712;35051231;35580925;36010968;36215666;36241641;36284347;38331898;38797519;7284378;7488099;7923172;8083224;8340387;9718352;9804782;9989599", "class_list": "", "function": "Catalyzes the reversible phosphorylytic cleavage of uridine to uracil and ribose-1-phosphate which can then be utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis (PubMed:7488099). Shows broad substrate specificity and can also accept deoxyuridine and other analogous compounds (Probable)., [UniProtKB, PubMed, PubMed]; Characterization of the promoter region of UPase has indicated a direct regulation of its expression by the tumor suppressor gene p53. Review. Review article, [RefSeq, PubMed]; Metabolites modulate the functional state of human uridine phosphorylase I., [RefSeq, PubMed]; The expression level of UPase gene may be an independent prognostic marker in human breast carcinoma, [RefSeq, PubMed]; This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. [provided by RefSeq, Oct 2016]., [RefSeq]; UPP1 promotes lung adenocarcinoma progression through the induction of an immunosuppressive microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; Uridine phosphorylase 1 is a novel immune-related target and predicts worse survival in brain glioma., [RefSeq, PubMed]; Uridine phosphorylase overexpression is associated with lymph node metastasis in oral neoplasms, [RefSeq, PubMed]; Uridine phosphorylase-1 promotes cell viability and cell-cycle progression in human epidermal keratinocytes via the glycolytic pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 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": "D3DVM4;Q15362", "ec_number_list": "2.4.2.3", "go_molecular_function": "GO:0004850 uridine phosphorylase activity;GO:0042802 identical protein binding;GO:0009032 thymidine phosphorylase activity;GO:0047847 deoxyuridine phosphorylase activity;GO:0016763 pentosyltransferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0046079 dUMP catabolic process;GO:0006218 uridine catabolic process;GO:0044206 UMP salvage;GO:0042149 cellular response to glucose starvation;GO:0006139 nucleobase-containing compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q16831-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3SY77-1", "uniprot_id": "UD3A2_HUMAN", "mass": 59547.0, "length": 523, "protein_name": "UDP-glycosyltransferase 3A2", "gene_name": "UGT3A2", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 3A2 isoform 2 precursor", "refseq_ac": "NP_001161788", "gene_names_uniprotkb": "UGT3A2; PRO1780; PSEC0073", "gene_names_refseq": "UGT3A2", "protein_names_uniprotkb": "UDP-glycosyltransferase 3A2; 2.4.1.170; 2.4.1.185; UDPGT 3A2", "protein_names_refseq": "UDP glycosyltransferase 3 family, polypeptide A2; UDP-glucuronosyltransferase 3A2 isoform 2 precursor; UDP-glucuronosyltransferase 3A2; UDPGT 3A2", "tax_id": 9606, "disease": "", "pathway": " (hsa:167127); (R-HSA-156588); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 57, "publication_id_list": "10.1101/2023.09.13.557529;10220572;10434065;11237011;11581266;12433823;12616642;12975309;1339448;13741103;14570768;15135306;16258079;16303743;16837570;16858120;16943252;16959974;17482904;1783992;18052085;19545173;19836360;20819778;21088224;22294686;22621930;22674043;25576301;25840124;26992070;27556486;28677105;28832583;29769354;30429286;3082969;3342084;34087483;34509645;35051231;3705620;4639028;5013373;5773090;5862532;6654901;6777177;6796486;6838677;7206363;7802672;8027054;8687483;9144407;931988;975718", "class_list": "glycogene;glycosyltransferase", "function": "A phenylalanine (Phe-391) in UGT3A2 favors UDP-Glc use., [RefSeq, PubMed]; Involved in biotransformation reactions in which lipophilic substrates are conjugated with sugars to increase water solubility and enhance excretion. Such reactions are of major importance in the elimination of potentially toxic xenobiotics and endogenous compounds. UGT3A2 catalyzes the addition of sugar residues from UDP-glucose and UDP-xylose to a broad range of acceptor substrates including 4-methylumbelliferone, 1-hydroxypyrene, bioflavones, and estrogens (PubMed:21088224). It has negligible activity toward bile acids and androgens (PubMed:21088224). To a lesser extent, is also able to use UDP-galactose but is inactive with UDP-glucuronic acid or UDP-N-acetylglucosamine as sugar donors (PubMed:21088224, PubMed:22621930)., [UniProtKB, PubMed, PubMed]; Lacks UDP-glycosyltransferase activity., [UniProtKB, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 754, "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": "B4DUQ7;E9PFK7;Q6UXC4;Q8NBP2", "ec_number_list": "2.4.1.17;2.4.1.170;2.4.1.185", "go_molecular_function": "GO:0008194 UDP-glycosyltransferase activity;GO:0015020 glucuronosyltransferase activity", "go_cellular_component": "GO:0043541 UDP-N-acetylglucosamine transferase complex", "go_biological_process": "GO:0071412 cellular response to genistein", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q3SY77-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6BDS2-1", "uniprot_id": "BLT3A_HUMAN", "mass": 159485.0, "length": 1440, "protein_name": "Bridge-like lipid transfer protein family member 3A", "gene_name": "BLTP3A", "organism": "Human", "refseq_name": "bridge-like lipid transfer protein family member 3A", "refseq_ac": "NP_060224", "gene_names_uniprotkb": "BLTP3A; C6orf107; UHRF1BP1", "gene_names_refseq": "BLTP3A; C6orf107; ICBP90; SHIP164B; UHRF1BP1; dJ349A12.1", "protein_names_uniprotkb": "Bridge-like lipid transfer protein family member 3A; ICBP90-binding protein 1; UHRF1-binding protein 1; Ubiquitin-like containing PHD and RING finger domains 1-binding protein 1", "protein_names_refseq": "ICBP90 binding protein 1; UHRF1 (ICBP90) binding protein 1; UHRF1 binding protein 1; bridge-like lipid transfer protein family member 3A; ubiquitin-like containing PHD and RING finger domains 1-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54887)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "15361834;18077418;18669648;19413330;19690332;19838195;20068231;21068098;21326321;23186163;24715725;26992070;27600516;27846572;27920218;28063628;28218747;28411811;28832583;28886272;28904123;29242379;29331515;29393594;29632046;29786170;30379171;30484775;31691269;31844290;31848261;31937595;32157095;32350084;32357974;32387766;32488085;32938616;33141586;33392160;33717175;33844396;33912179;33968037;33981976;34509645;35051231;35499567;35580925;36010968;38253038", "class_list": "", "function": "Cross-population confirmation establishes the involvement of UHRF1BP1 locus in SLE and indicates that distinct alleles are contributing to disease susceptibility., [RefSeq, PubMed]; Identified five new systemic lupus erythematosus susceptibility loci (P < 5 x 10(-8)): TNIP1 (odds ratio (OR) = 1.27), PRDM1 (OR = 1.20), JAZF1 (OR = 1.20), UHRF1BP1 (OR = 1.17) and IL10 (OR = 1.19). GeneRIF: Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PP7080 expedites the proliferation and migration of lung adenocarcinoma cells via sponging miR-670-3p and regulating UHRF1BP1., [RefSeq, PubMed]; Study shows that SESN1 mRNA, UHRF1BP11 mRNA and miRNA-377-3p levels are prognostically relevant in human papillomavirus-negative head and neck squamous cell carcinoma patients. Review article, [RefSeq, PubMed]; The association of the UHRF1BP1 gene with systemic lupus erythematosus was replicated in a Han Chinese population from mainland China., [RefSeq, PubMed]; Tube-forming lipid transport protein which probably mediates the transfer of lipids between membranes at organelle contact sites (PubMed:35499567). May be involved in the retrograde traffic of vesicle clusters in the endocytic pathway to the Golgi complex (PubMed:35499567)., [UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 27, "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": "Q9NXE0", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005770 late endosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q6BDS2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UW78-1", "uniprot_id": "UQCC3_HUMAN", "mass": 10081.0, "length": 93, "protein_name": "Ubiquinol-cytochrome-c reductase complex assembly factor 3", "gene_name": "UQCC3", "organism": "Human", "refseq_name": "ubiquinol-cytochrome-c reductase complex assembly factor 3", "refseq_ac": "NP_001078841", "gene_names_uniprotkb": "UQCC3; C11orf83; PRO1286", "gene_names_refseq": "C11orf83; CCDS41658.1; MC3DN9; UNQ655; UQCC3", "protein_names_uniprotkb": "Ubiquinol-cytochrome-c reductase complex assembly factor 3; Assembly factor CBP4 homolog", "protein_names_refseq": "UPF0723 protein C11orf83; assembly factor CBP4 homolog; ubiquinol-cytochrome-c reductase complex assembly factor 3", "tax_id": 9606, "disease": "mitochondrial complex III deficiency nuclear type 9 (Disease Ontology:DOID:0080118)", "pathway": " (hsa:790955); (R-HSA-9865881)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;12975309;15340161;20159687;21278747;21993680;23168492;23584533;24385928;25008109;25505266;25605331;25813380;28380382;28418037;28673544;28844695;28904123;29242379;29243944;30429286;30833945;31642232;31844290;32157095;32350084;32897882;32929120;32938616;33147459;33968037;33981976;34969438;35251023;36241641", "class_list": "", "function": "AY358935 gene has an anti-VSV effect, and its anti-virus mechanism may involve the interferon-associated natural immune response., [RefSeq, PubMed]; AY358935 is a predicted secretary protein with a small molecular weight that might have important functions in cellular proliferation and anti-viral innate immune regulation., [RefSeq, PubMed]; C11orf83 depletion in HeLa cells caused abnormal crista morphology, higher sensitivity to apoptosis, a decreased ATP level due to impaired respiration and subtle, but significant, changes in cardiolipin composition., [RefSeq, PubMed]; Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9. [provided by RefSeq, Dec 2014]., [RefSeq]; Mitochondrial C11orf83 is a potent antiviral protein independent of interferon production; and knockdown of either OAS3 or RNase L impaired the antiviral capability of C11orf83. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial UQCC3 Modulates Hypoxia Adaptation by Orchestrating OXPHOS and Glycolysis in Hepatocellular Carcinoma., [RefSeq, PubMed]; Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex), mediating cytochrome b recruitment and probably stabilization within the complex. Thereby, plays an important role in ATP production by mitochondria. Cardiolipin-binding protein, it may also control the cardiolipin composition of mitochondria membranes and their morphology., [UniProtKB, PubMed, PubMed]; UQCC3 functions in complex III assembly and that the c.59T>A mutation has a causal role in complex III deficiency., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q5FVD5", "ec_number_list": "", "go_molecular_function": "GO:0070300 phosphatidic acid binding;GO:1901612 cardiolipin binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006754 ATP biosynthetic process;GO:0042407 cristae formation;GO:0034551 mitochondrial respiratory chain complex III assembly;GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q6UW78-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZU65-1", "uniprot_id": "UBN2_HUMAN", "mass": 146089.0, "length": 1347, "protein_name": "Ubinuclein-2", "gene_name": "UBN2", "organism": "Human", "refseq_name": "ubinuclein-2", "refseq_ac": "NP_775840", "gene_names_uniprotkb": "UBN2; KIAA2030", "gene_names_refseq": "UBN2", "protein_names_uniprotkb": "Ubinuclein-2", "protein_names_refseq": "ubinuclein-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:254048)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "11237011;17525332;18452278;18669648;19029251;19608861;19651622;20068231;21406692;23186163;23301498;23481700;24275569;25418920;25645385;26154972;26811146;26992070;28218747;28832583;28834231;28904123;29237092;29242379;29437277;29557506;29632711;29786170;30059200;30379171;30429286;30524438;30620550;30779550;31492838;31637018;31844290;32157095;32357974;32938616;32938750;32983136;33141586;33214551;33298915;33592498;33691108;33717175;33981976;34019948;34846842;35051231;35132862;35138101;35254053;35289036;35513511;35580925;35705054;36284347;37340703;37541260;37805161;37938771;38253038;38665916;39302247;39531497;39534244;40307207;40596516", "class_list": "", "function": "MiR-455-3p mediates PPARalpha through UBN2 to promote apoptosis and autophagy in 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": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "A4D1S2;Q2YDY4;Q6P1K0;Q86XN9;Q8N7D1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006325 chromatin organization;GO:0006334 nucleosome assembly;GO:1902275 regulation of chromatin organization", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q6ZU65-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z3V4-1", "uniprot_id": "UBE3B_HUMAN", "mass": 123098.0, "length": 1068, "protein_name": "Ubiquitin-protein ligase E3B", "gene_name": "UBE3B", "organism": "Human", "refseq_name": "ubiquitin-protein ligase E3B isoform 3", "refseq_ac": "NP_001257378", "gene_names_uniprotkb": "UBE3B", "gene_names_refseq": "BPIDS; KOS; UBE3B", "protein_names_uniprotkb": "Ubiquitin-protein ligase E3B; 2.3.2.26; HECT-type ubiquitin transferase E3B", "protein_names_refseq": "HECT-type ubiquitin transferase E3B; ubiquitin-protein ligase E3B isoform 3", "tax_id": 9606, "disease": "Kaufman oculocerebrofacial syndrome (Disease Ontology:DOID:0111456)", "pathway": " (hsa:89910); (R-HSA-983168)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "11062501;11237011;11350924;12646216;12750860;12837265;14734113;15224091;15224092;15571818;16595681;16849449;16954532;17672918;18662542;18691976;19028597;19352404;19452197;19489725;19851334;19874575;19940261;2261476;23200864;23687348;24397554;24615390;24715725;26154972;26811146;26992070;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29789417;30315122;30429286;30808755;31217245;31844290;32157095;32249816;32357974;32387766;32488085;32502341;32938616;33141586;33298911;33298915;33717175;33912179;33936100;33968037;34171305;34357683;34561969;35051231;35251023;35561310;35580925;37783786;38410982;38914543;9380723;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Ubiquitinates BCKDK and targets it for degradation, thereby regulating various metabolic processes (By similarity). Involved in the positive regulation of neurite branching in hippocampal neurons and the control of neuronal spine number and morphology, through the ubiquitination of PPP3CC (By similarity)., [UniProtKB, UniProtKB]; Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population., [RefSeq, PubMed]; TRIB3 promotes MYC-associated lymphoma development through suppression of UBE3B-mediated MYC degradation. Publication Status: Online-Only, [RefSeq, PubMed]; The apparent occurrence of an unusual TG 3' splice site in intron 25 is discussed, [RefSeq, PubMed]; The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]; UBE3B is a novel E3 ligase, with a HECT-domain which constitutes the active site for ubiquitin transfer, [RefSeq, PubMed]; UBE3B promotes breast cancer progression by antagonizing HIF-2alpha degradation., [RefSeq, PubMed]; VHL suppresses UBE3B-mediated breast tumor growth and metastasis. 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": 14, "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": "A5D8Z3;Q05BX9;Q659F7;Q7Z7Q1;Q9BXZ4", "ec_number_list": "2.3.2.24;2.3.2.23;2.3.2.26;2.3.2.27;2.3.2.31;2.3.2.-;6.2.1.-;2.3.2.34;2.3.2.32;3.6.4.-;2.3.2.25;2.3.2.36;2.7.11.1", "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005739 mitochondrion;GO:0014069 postsynaptic density", "go_biological_process": "GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0150052 regulation of postsynapse assembly", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q7Z3V4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86V25-1", "uniprot_id": "VASH2_HUMAN", "mass": 40450.0, "length": 355, "protein_name": "Tubulinyl-Tyr carboxypeptidase 2", "gene_name": "VASH2", "organism": "Human", "refseq_name": "tubulinyl-Tyr carboxypeptidase 2 isoform 2", "refseq_ac": "NP_001129946", "gene_names_uniprotkb": "VASH2; VASHL", "gene_names_refseq": "VASH2", "protein_names_uniprotkb": "Tubulinyl-Tyr carboxypeptidase 2; 3.4.17.17; Vasohibin-2; Vasohibin-like protein", "protein_names_refseq": "testicular tissue protein Li 222; tubulinyl-Tyr carboxypeptidase 2 isoform 2; tubulinyl-Tyr carboxypeptidase 2; vasohibin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79805); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "11237011;1520276;15890843;16528006;16901895;17244817;17244818;17360631;17499049;18331838;19204325;19524510;19531357;20519502;20736312;21074048;21406692;22438034;22614011;22826464;23358242;24714562;24715725;25103237;25468068;25957412;26794318;27920218;28832583;28855257;28904123;29146868;29146869;29242379;29632046;30379171;31171830;31217245;31235911;31324789;31844290;33717175;33912179;34561969;34932366;35026646;35869758;35922907;37821528;38253038;38278467;7452228", "class_list": "", "function": "A preliminary study on the mechanism of VASH2 in childhood medulloblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; High Vasohibin-2 expression correlated with autophagy in proliferative diabetic retinopathy., [RefSeq, PubMed]; Pathological Study on the Expression of Vasohibins in Peripheral Artery Disease., [RefSeq, PubMed]; Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function (PubMed:29146869). Critical for spindle function and accurate chromosome segregation during mitosis since microtubule detyrosination regulates mitotic spindle length and postioning (PubMed:31171830). Acts as an activator of angiogenesis: expressed in infiltrating mononuclear cells in the sprouting front to promote angiogenesis (PubMed:19204325). Plays a role in axon formation (PubMed:31235911)., [UniProtKB, PubMed, PubMed, PubMed]; VASH2 contributes to the angiogenesis in hepatocellular carcinoma via an Small vasohibin binding protein-mediated paracrine mechanism., [RefSeq, PubMed]; VASH2 expressed in serous ovarian carcinoma cells promoted tumor growth and peritoneal dissemination by promoting angiogenesis., [RefSeq, PubMed]; Vasohibin-1 and -2 in pulmonary lymphangioleiomyomatosis (LAM) cells associated with angiogenic and prognostic factors., [RefSeq, PubMed]; Vasohibin-1 and vasohibin-2 mRNA are expressed in gastric cancer cells and in tumor-associated macrophages (TAMs), and their expressions are altered by hypoxia., [RefSeq, PubMed]; [Vasohibin-2 promotes proliferation and metastasis of cervical cancer cells by 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": 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": 13, "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": "B4DYZ5;Q2VT46;Q5VTE7;Q5VTE9;Q7Z6E3;Q8IZ24;Q9H9W5", "ec_number_list": "3.6.5.-;3.4.17.17", "go_molecular_function": "GO:0003779 actin binding;GO:0008017 microtubule binding;GO:0004181 metallocarboxypeptidase activity;GO:0106423 tubulin-tyrosine carboxypeptidase", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0006508 proteolysis;GO:0045766 positive regulation of angiogenesis;GO:0001938 positive regulation of endothelial cell proliferation;GO:0045765 regulation of angiogenesis;GO:0061564 axon development", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q86V25-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86WB7-1", "uniprot_id": "UN93A_HUMAN", "mass": 50270.0, "length": 457, "protein_name": "N-acetylglucosamine transporter UNC93A", "gene_name": "UNC93A", "organism": "Human", "refseq_name": "protein unc-93 homolog A isoform 2", "refseq_ac": "NP_001137419", "gene_names_uniprotkb": "UNC93A", "gene_names_refseq": "UNC93A; Unc-93A; dJ366N23.1; dJ366N23.2", "protein_names_uniprotkb": "N-acetylglucosamine transporter UNC93A; HmUnc-93A; Protein unc-93 homolog A; Unc-93A", "protein_names_refseq": "dJ366N23.1 (putative C. elegans UNC-93 (protein 1, C46F11.1) LIKE); dJ366N23.2 (putative C. elegans UNC-93 (protein 1, C46F11.1) C-terminal LIKE); protein unc-93 homolog A isoform 2; protein unc-93 homolog A; unc93 homolog A", "tax_id": 9606, "disease": "", "pathway": " (hsa:54346)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;12381271;25418920;33141586;41075780", "class_list": "", "function": "Results suggest that no evidence for UNC93A as a tumour suppressor gene in sporadic ovarian cancer has been identified and further research is required to evaluate its normal function and role in the pathogenesis of ovarian cancer., [RefSeq, PubMed]; Specifically transports N-acetylglucosamine across the plasma membrane., [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": 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": "B3KRP5;Q4QQJ4;Q5JZD6", "ec_number_list": "", "go_molecular_function": "GO:0015572 N-acetylglucosamine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q86WB7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IV45-1", "uniprot_id": "UN5CL_HUMAN", "mass": 57818.0, "length": 518, "protein_name": "UNC5C-like protein", "gene_name": "UNC5CL", "organism": "Human", "refseq_name": "UNC5C-like protein", "refseq_ac": "NP_775832", "gene_names_uniprotkb": "UNC5CL; ZUD", "gene_names_refseq": "MUXA; UNC5CL; ZUD", "protein_names_uniprotkb": "UNC5C-like protein; Protein unc-5 homolog C-like; ZU5 and death domain-containing protein", "protein_names_refseq": "UNC5C-like protein; ZU5 and death domain containing; protein unc-5 homolog C-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:222643)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;14769797;22158417;26129866;29557506;31154438;31844290;32983136;34087483;34932366;35051231;35580925", "class_list": "", "function": "Inhibits NF-kappa-B-dependent transcription by impairing NF-kappa-B binding to its targets., [UniProtKB, PubMed]; Rs2294693 near UNC5CL was significantly associated with Gastric non-cardia cancer risk (p=2.50x10(-8)), with OR (95% CI) of 1.18 (1.12 to 1.26), but there was only a nominal association for cardia cancer (p=1.47x10(-2)., [RefSeq, PubMed]; The death domain-containing protein Unc5CL is a novel MyD88-independent activator of the pro-inflammatory IRAK signaling cascade., [RefSeq, PubMed]; ZUD is an inhibitor of NF-kappaB activation and may provide an alternative regulatory mechanism for NF-kappaB-mediated transcription, [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": 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": "Q5TGU1", "ec_number_list": "", "go_molecular_function": "GO:0008233 peptidase activity;GO:0005042 netrin receptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0046330 positive regulation of JNK cascade;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8IV45-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N2C9-1", "uniprot_id": "UMAS1_HUMAN", "mass": 18019.0, "length": 162, "protein_name": "Uncharacterized protein UMODL1-AS1", "gene_name": "UMODL1-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "UMODL1-AS1; C21orf128", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein UMODL1-AS1; UMODL1 antisense RNA 1; UMODL1 antisense gene protein 1", "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": "Q8N2C9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92738-1", "uniprot_id": "US6NL_HUMAN", "mass": 94104.0, "length": 828, "protein_name": "USP6 N-terminal-like protein", "gene_name": "USP6NL", "organism": "Human", "refseq_name": "USP6 N-terminal-like protein isoform 2", "refseq_ac": "NP_001073960", "gene_names_uniprotkb": "USP6NL; KIAA0019", "gene_names_refseq": "RNTRE; TRE2NL; USP6NL-IT1; USP6NL", "protein_names_uniprotkb": "USP6 N-terminal-like protein; RN-tre; Related to the N-terminus of tre", "protein_names_refseq": "USP6 N-terminal-like protein isoform 2; USP6 N-terminal-like protein; related to the N-terminus of tre", "tax_id": 9606, "disease": "", "pathway": " (hsa:9712); (R-HSA-6811440)", "pathway_count": 2, "publication_count": 113, "publication_id_list": "10209123;10445031;10559959;10637310;10865125;10990452;11099046;11237011;11303027;11346801;11359012;11689439;11827983;11839770;12070132;12377769;12620188;12620189;14580338;14718928;15029241;15037235;15077113;15077114;15128430;15144186;15269279;15483056;15654769;15758030;15870108;15878329;16042553;16086013;16129887;16571679;16885419;16912714;16936697;17081983;17451557;17488291;17562788;17684057;17698061;18195106;18243103;18256213;18367545;18664496;18669648;18946081;19077034;19164740;19490898;19620288;19690332;20068231;20685960;21183348;21406692;21421921;21436057;21689688;21807881;22335553;22354037;22581368;22717455;23091056;23186163;23437303;24275569;24715725;24794632;25343031;25576301;25645385;27397612;27862975;28183528;28218747;28832583;28904123;29242379;29437277;29691252;31217245;31844290;32157095;32488085;32938616;33054738;33981976;34171305;35051231;35318648;36241641;36284347;39302247;39534244;7909812;8221884;8440258;8620540;8636227;8670882;8700515;8889548;9050864;9177194;9230071;9590177", "class_list": "", "function": "Acts as a GTPase-activating protein for RAB43, RAB5A and RAB30 (PubMed:11099046, PubMed:16086013, PubMed:17562788, PubMed:17684057). Involved in receptor trafficking. In complex with EPS8 inhibits internalization of EGFR. Involved in retrograde transport from the endocytic pathway to the Golgi apparatus. Involved in the transport of Shiga toxin from early and recycling endosomes to the trans-Golgi network. Required for structural integrity of the Golgi complex., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Acts as a GTPase-activating protein for RAB43, RAB5A and RAB30. Involved in receptor trafficking. In complex with EPS8 inhibits internalization of EGFR. Involved in retrograde transport from the endocytic pathway to the Golgi apparatus. Involved in the transport of Shiga toxin from early and recycling endosomes to the trans-Golgi network. Required for structural integrity of the Golgi complex., [UniProtKB, UniProtKB]; Genome-wide significant (GWS) associations in single-nucleotide polymorphism (SNP)-based tests (P < 5 x 10(-8)) were identified for SNPs in PFDN1/HBEGF, USP6NL/ECHDC3, and BZRAP1-AS1., [RefSeq, PubMed]; Study reports that USP6NL is overexpressed in breast cancer, mainly of the basal-like/integrative cluster 10 subtype. Increased USP6NL levels were accompanied by gene amplification and were associated with worse prognosis in the METABRIC dataset. High levels of USP6NL in breast cancer cells delayed endocytosis and degradation of the EGFR, causing chronic AKT activation., [RefSeq, PubMed]; USP6NL mediated by LINC00689/miR-142-3p promotes the development of triple-negative breast 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": 14, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8KA79;Q15400;Q5VV10;Q7L0K9", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0032588 trans-Golgi network membrane;GO:0031410 cytoplasmic vesicle;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0043547 positive regulation of GTPase activity;GO:0007030 Golgi organization;GO:0019068 virion assembly;GO:0048227 plasma membrane to endosome transport;GO:1903358 regulation of Golgi organization", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q92738-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQ65-1", "uniprot_id": "USB1_HUMAN", "mass": 30268.0, "length": 265, "protein_name": "U6 snRNA phosphodiesterase 1", "gene_name": "USB1", "organism": "Human", "refseq_name": "U6 snRNA phosphodiesterase 1 isoform 2", "refseq_ac": "NP_001182231", "gene_names_uniprotkb": "USB1; C16orf57; Mpn1", "gene_names_refseq": "C16orf57; HVSL1; Mpn1; PN; USB1; hMpn1; hUsb1", "protein_names_uniprotkb": "U6 snRNA phosphodiesterase 1; 3'-5' RNA exonuclease USB1; 4.6.1.-; Mutated in PN protein 1; Mutated in poikiloderma with neutropenia protein 1; hMpn1; hUsb1", "protein_names_refseq": "3'-5' RNA exonuclease USB1; HVSL motif containing 1; U six biogenesis 1; U6 snRNA biogenesis 1; U6 snRNA phosphodiesterase 1 isoform 2; U6 snRNA phosphodiesterase 1; UPF0406 protein C16orf57; mutated in PN protein 1; mutated in poikiloderma with neutropenia protein 1; putative U6 snRNA phosphodiesterase", "tax_id": 9606, "disease": "ablepharon macrostomia syndrome (Disease Ontology:DOID:0060550); poikiloderma with neutropenia (Disease Ontology:DOID:0060551)", "pathway": " (hsa:79650)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;17924679;20004881;20503306;22899009;23022480;23190533;24715725;25418920;26213367;26992070;27846572;27920218;28063628;28887445;28904123;29493099;29632046;30215753;31832688;31844290;32161166;32357974;32387766;32938616;33111394;33298915;33592498;33717175;34004352;35051231;35580925;36862787;36938655;37779259", "class_list": "", "function": "3'-5' RNA exonuclease that trims the 3' end of oligo(U) and oligo(A) tracts of the pre-U6 small nuclear RNA (snRNA) molecule, leading to the formation of a mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate. Participates in the U6 snRNA 3' end processing that prevents U6 snRNA degradation. In addition also removes uridines from the 3' end of U6atac snRNA and possibly the vault RNA VTRNA1-1., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; C16orf57 has a role in clericuzio-type poikiloderma with neutropenia Erratum:[Am J Hum Genet. 2010 Sep 10;87(3):445], [RefSeq, PubMed]; Chinese nontwin sisters suffer from poikiloderma with neutropenia harboring novel compound heterozygous USB1 gene mutations., [RefSeq, PubMed]; Clericuzio-type poikiloderma with neutropenia in a patient from India., [RefSeq, PubMed]; Defective monocyte plasticity and altered cAMP pathway characterize USB1-mutated poikiloderma with neutropenia Clericuzio type., [RefSeq, PubMed]; Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation., [RefSeq, PubMed]; Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate., [UniProtKB, HAMAP, UniProtKB]; This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]., [RefSeq]; USB1 is a miRNA deadenylase that regulates hematopoietic 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": 1, "reported_mutagensis": 8, "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": "B4DWE3;B4DZW5;Q96FZ9;Q9H8X8", "ec_number_list": "3.1.4.-;4.6.1.-", "go_molecular_function": "GO:0016829 lyase activity;GO:0000175 3'-5'-RNA exonuclease activity;GO:1990838 poly(U)-specific exoribonuclease activity, producing 3' uridine cyclic phosphate ends;GO:0016787 hydrolase activity;GO:0004518 nuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0008380 RNA splicing;GO:0034477 U6 snRNA 3'-end processing;GO:0034472 snRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9BQ65-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BT76-1", "uniprot_id": "UPK3B_HUMAN", "mass": 33882.0, "length": 320, "protein_name": "Uroplakin-3b", "gene_name": "UPK3B", "organism": "Human", "refseq_name": "uroplakin-3b isoform d precursor", "refseq_ac": "NP_001334613", "gene_names_uniprotkb": "UPK3B", "gene_names_refseq": "P35; UP3B; UPIIIB; UPK3B", "protein_names_uniprotkb": "Uroplakin-3b; UP3b; UPIIIb; Uroplakin IIIb; p35", "protein_names_refseq": "uroplakin IIIb; uroplakin-3b isoform d precursor; uroplakin-3b", "tax_id": 9606, "disease": "", "pathway": " (hsa:105375355)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "12446744;21984916;31848261;34171305;35051231;35318648;35580925", "class_list": "", "function": "Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity)., [UniProtKB]; LRRN4 was only detected in primary mesothelial cells, but MSLN and UPK3B were also detected in other cell types., [RefSeq, PubMed]; UPK3B is a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b (UPK1B; MIM 602380), one of the major conserved urothelium membrane proteins. The other major conserved integral membrane proteins of urothelial plaques are UPK1A (MIM 611557), UPK2 (MIM 611558), and UPK3A (MIM 611559) (Deng et al., 2002 [PubMed 12446744]).[supplied by OMIM, Mar 2008]., [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": 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": "A6NHH5;A8K231;A8MZA8;B3KPU5;Q75MM5;Q86W06", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9BT76-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BY64-1", "uniprot_id": "UDB28_HUMAN", "mass": 60906.0, "length": 529, "protein_name": "UDP-glucuronosyltransferase 2B28", "gene_name": "UGT2B28", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 2B28 isoform 2 precursor", "refseq_ac": "NP_001193933", "gene_names_uniprotkb": "UGT2B28", "gene_names_refseq": "UGT2B28", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 2B28; 2.4.1.17; UDPGT 2B28; UGT2B28", "protein_names_refseq": "UDP glucuronosyltransferase 2 family, polypeptide B28; UDP glycosyltransferase 2 family, polypeptide B28; UDP-glucuronosyltransferase 2B28 isoform 2 precursor; UDPGT 2B28", "tax_id": 9606, "disease": "", "pathway": " (hsa:54490); (R-HSA-156588); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 56, "publication_id_list": "10220572;10434065;11300766;11581266;12433823;12616642;1339448;13741103;14570768;15135306;16258079;16837570;16858120;16943252;17482904;1783992;18052085;19054851;19545173;19572376;19836360;19898482;20056642;21679149;22294686;22674043;25840124;25892735;27556486;28677105;29786170;30628680;3082969;31154438;31805979;3342084;35580925;35954173;36343786;36347965;3705620;4639028;5013373;5773090;5862532;6654901;6777177;6796486;6838677;7206363;7802672;8027054;8687483;9144407;931988;975718", "class_list": "glycogene;glycosyltransferase", "function": "Copy-number variations (CNVs) of the human sex steroid metabolizing genes UGT2B28, [RefSeq, PubMed]; Extensive metabolic consequences of human glycosyltransferase gene knockouts in prostate cancer., [RefSeq, PubMed]; Further analysis revealed 2 hemizygous deletions in the grandmother that segregate in several of her affected offspring. The first deletion was found in the UGT2B28 locus, spanning 7 informative sequence variants across at least 14 kb. The second deletion, located in USP17L2, spans 3 informative variants across at least 2 kb. On the whole, the findings of the presents study implicate 2 additional genes in the pathogenesis, [RefSeq, PubMed]; Lack UDP-glucuronosyltransferase (UGT) activity., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2013 May;45(5):578], [RefSeq, PubMed]; Patients with UGT2B28-rs2132039 - TT variant type had an earlier presentation of hepatocellular carcinoma (HCC), earlier post-surgery recurrence, metastasis and HCC-related death. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Two transcript variants encoding different isoforms have been found for this gene. While both isoforms are targeted to the endoplasmic reticulum, only the longer isoform appears to be active. [provided by RefSeq, May 2011]., [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:11300766). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:11300766). Catalyzes the glucuronidation of endogenous steroid hormones such as androgens (androsterone, 3alpha-androstanediol) and estrogens (estradiol, estrone) (PubMed:11300766). Catalyzes the glucuronidation of bile acid substrates, which are natural detergents for dietary lipids absorption (PubMed:11300766). Displays glucuronidation activity toward the phenolic compounds eugenol (PubMed:11300766)., [UniProtKB, PubMed]; UGT2B28 accelerates prostate cancer progression through stabilization of the endocytic adaptor protein HIP1 regulating AR and EGFR pathways., [RefSeq, PubMed]; UGT2B28 was clearly detected in breast and adipose tissue; GT2B28 expression in the breast was comparatively low, about 1.6% of GAPDH mRNA levels, and was less than 5% of normalized (against GAPDH) UGT2B7 and 2B10 mRNA expression levels in the liver, [RefSeq, PubMed]; Uridine Diphosphate Glucuronosyl Transferase 2B28 (UGT2B28) Promotes Tumor Progression and Is Elevated in African American Prostate Cancer Patients. 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": 914, "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": "B5BUM0;Q9BY62;Q9BY63", "ec_number_list": "2.4.1.17;2.4.1.170;2.4.1.185", "go_molecular_function": "GO:0015020 glucuronosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane;GO:0005640 nuclear outer membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0008202 steroid metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9BY64-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZM5-1", "uniprot_id": "ULBP2_HUMAN", "mass": 27368.0, "length": 246, "protein_name": "UL16-binding protein 2", "gene_name": "ULBP2", "organism": "Human", "refseq_name": "UL16-binding protein 2 preproprotein", "refseq_ac": "NP_079493", "gene_names_uniprotkb": "ULBP2; N2DL2; PRO791; RAET1H", "gene_names_refseq": "ALCAN-alpha; N2DL2; NKG2DL2; RAET1H; ULBP2", "protein_names_uniprotkb": "UL16-binding protein 2; ALCAN-alpha; N2DL-2; NKG2D ligand 2; NKG2DL2; Retinoic acid early transcript 1H", "protein_names_refseq": "NKG2D ligand 2; UL16-binding protein 2 preproprotein; retinoic acid early transcript 1H", "tax_id": 9606, "disease": "", "pathway": " (hsa:80328); (R-HSA-163125)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10.1101/2023.09.13.557529;11072085;11239445;11444831;11777960;11827464;12753652;12782710;12975309;23090970;24190977;2443973;32157095;32605922;33968037;33981976;34171305;3422494;34357683;35051231;35251023;36633827;37684232;37774496", "class_list": "", "function": "Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity., [UniProtKB, PubMed]; Staphylococcus aureus induces cell-surface expression of immune stimulatory NKG2D ligands on human monocytes., [RefSeq, PubMed]; This gene encodes a major histocompatibility complex (MHC) class I-related molecule that binds to the NKG2D receptor on natural killer (NK) cells to trigger release of multiple cytokines and chemokines that in turn contribute to the recruitment and activation of NK cells. The encoded protein undergoes further processing to generate the mature protein that is either anchored to membrane via a glycosylphosphatidylinositol moiety, or secreted. Many malignant cells secrete the encoded protein to evade immunosurveillance by NK cells. This gene is located in a cluster of multiple MHC class I-related genes on chromosome 6. [provided by RefSeq, Jul 2015]., [RefSeq]; ULBP2 binds to the NKG2D receptor and activates multiple signaling pathways in primary natural killer cells., [RefSeq, PubMed]; ULBP2 is a biomarker related to prognosis and immunity in colon cancer., [RefSeq, PubMed]; Upregulation of the NKG2D Ligand ULBP2 by JC Polyomavirus Infection Promotes Immune Recognition by Natural Killer 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5VUN4", "ec_number_list": "", "go_molecular_function": "GO:0046703 natural killer cell lectin-like receptor binding;GO:0034235 GPI anchor binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib;GO:0002486 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent;GO:0001916 positive regulation of T cell mediated cytotoxicity;GO:0030101 natural killer cell activation;GO:0042267 natural killer cell mediated cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9BZM5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZM6-1", "uniprot_id": "ULBP1_HUMAN", "mass": 27997.0, "length": 244, "protein_name": "UL16-binding protein 1", "gene_name": "ULBP1", "organism": "Human", "refseq_name": "UL16-binding protein 1 isoform 2 precursor", "refseq_ac": "NP_001304018", "gene_names_uniprotkb": "ULBP1; N2DL1; RAET1I", "gene_names_refseq": "N2DL-1; NKG2DL1; RAET1I; ULBP1", "protein_names_uniprotkb": "UL16-binding protein 1; ALCAN-beta; N2DL-1; NKG2D ligand 1; NKG2DL1; Retinoic acid early transcript 1I", "protein_names_refseq": "NKG2D ligand 1; UL16-binding protein 1 isoform 2 precursor; alcan-beta; retinoic acid early transcript 1I", "tax_id": 9606, "disease": "", "pathway": " (hsa:80329); (R-HSA-198933)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10499918;10746781;11239445;11265639;11489943;11491531;11513152;11556966;11777960;11807247;11827464;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12753652;12782710;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;24715725;25703557;25716998;25880248;26284469;26300885;32077634;32350084;32626772;33936100;35051231;35251023;35580925;36179070;38481217;39103915;39894887;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity., [UniProtKB, PubMed]; Epithelial-mesenchymal transition may be involved in the immune evasion of circulating gastric tumor cells via downregulation of ULBP1., [RefSeq, PubMed]; Human Cytomegalovirus UL24 and UL43 Cooperate to Modulate the Expression of Immunoregulatory UL16 Binding Protein 1., [RefSeq, PubMed]; Human esophageal cancer stem-like cells escape the cytotoxicity of natural killer cells via down-regulation of ULBP-1. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of the UL-16 binding protein 1 promotes osteoblast differentiation of human mesenchymal stem cells by activating the SMAD2/3 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a ligand of natural killer group 2, member D (NKG2D), an immune system-activating receptor on NK cells and T-cells. Binding of the encoded ligand to NKG2D leads to activation of several signal transduction pathways, including those of JAK2, STAT5, ERK and PI3K kinase/Akt. Also, in cytomegalovirus-infected cells, this ligand binds the UL16 glycoprotein and is prevented from activating the immune system. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]., [RefSeq]; UL16-Binding Protein 1 Induced HTR-8/SVneo Autophagy via NF-kappaB Suppression Mediated by TNF-alpha Secreted through uNK Cells. Publication Status: Online-Only, [RefSeq, PubMed]; ULBP1 binds to the NKG2D receptor and activates multiple signaling pathways in primary natural killer cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5VY81;Q8IZW3;Q8IZX6", "ec_number_list": "", "go_molecular_function": "GO:0046703 natural killer cell lectin-like receptor binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib;GO:0002486 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent;GO:0001916 positive regulation of T cell mediated cytotoxicity;GO:0030101 natural killer cell activation;GO:0042267 natural killer cell mediated cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q9BZM6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZX2-1", "uniprot_id": "UCK2_HUMAN", "mass": 29299.0, "length": 261, "protein_name": "Uridine-cytidine kinase 2", "gene_name": "UCK2", "organism": "Human", "refseq_name": "uridine-cytidine kinase 2 isoform 1", "refseq_ac": "NP_036606", "gene_names_uniprotkb": "UCK2; UMPK", "gene_names_refseq": "TSA903; UCK2; UK; UMPK", "protein_names_uniprotkb": "Uridine-cytidine kinase 2; 2.7.1.48; Cytidine monophosphokinase 2; Testis-specific protein TSA903; UCK 2; Uridine monophosphokinase 2", "protein_names_refseq": "cytidine monophosphokinase 2; testis-specific protein TSA903; uridine kinase; uridine monophosphate kinase; uridine monophosphokinase 2; uridine-cytidine kinase 2 isoform 1", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793)", "pathway": " (hsa:7371); (R-HSA-73614)", "pathway_count": 2, "publication_count": 111, "publication_id_list": "1063125;11237011;11306702;11494055;12199906;12429345;12808445;12849978;1406603;14609716;14725767;15130468;15689149;15733844;15735337;1590793;1597187;17081983;18691976;19291308;195585;19651622;1996353;20068231;2026611;20722631;21406692;22424782;23301498;23481700;24715725;2539852;25418920;2542307;2548513;25505266;25576301;25810538;26154972;26992070;27600516;27846572;27862975;27920218;28063628;28228285;2844225;28514659;28832583;28855257;28904123;29242379;29351928;29393594;29493099;29557506;29632046;30410026;30484775;30524438;31217245;31278886;31844290;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;3335503;33392160;33537174;33592498;33717175;3372530;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34509645;34561969;35051231;35580925;35583288;36010968;36215666;36241641;36447138;37534791;37938771;40307207;40596516;40914422;7284378;7488099;7923172;8340387;8812458;9804782;9989599", "class_list": "", "function": "Cytotoxic Flavokawain B Inhibits the Growth and Metastasis of Hepatocellular Carcinoma through UCK2 Modulation of the STAT3/Hif-1alpha/VEGF Signalling Pathway., [RefSeq, PubMed]; Increased intranuclear levels of UK may contribute to the metabolic build-up that is needed for Epstein-Barr virus nuclear protein EBNA-3-mediated B-cell blast transformation and rapid proliferation., [RefSeq, PubMed]; Lung cancer patients with high UCK2 expression had poorer first progression survival and overall survival than patients with low UCK2 expression. Cytology experiments show that knockdown of UCK2 could suppress the proliferation and migration of lung cancer cells. Study indicated that UCK2 might be a potential early diagnostic and prognostic biomarker for lung cancer., [RefSeq, PubMed]; Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate (PubMed:11306702, PubMed:11494055, PubMed:35583288). Does not phosphorylate deoxyribonucleosides or purine ribonucleosides (PubMed:11306702). Can use ATP or GTP as a phosphate donor (PubMed:11306702). Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine (PubMed:11306702)., [UniProtKB, PubMed, PubMed, PubMed]; Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine., [UniProtKB, UniProtKB]; Targeting uridine-cytidine kinase 2 induced cell cycle arrest through dual mechanism and could improve the immune response of hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[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": 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": 5, "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": "Q5VV91;Q7KZV3;Q92528;Q96KG5;Q9BU42", "ec_number_list": "2.7.1.48", "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0004849 uridine kinase activity;GO:0043771 cytidine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0044206 UMP salvage;GO:0044211 CTP salvage;GO:0007631 feeding behavior;GO:0048678 response to axon injury;GO:0071453 cellular response to oxygen levels", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q9BZX2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y3C8-1", "uniprot_id": "UFC1_HUMAN", "mass": 19458.0, "length": 167, "protein_name": "Ubiquitin-fold modifier-conjugating enzyme 1", "gene_name": "UFC1", "organism": "Human", "refseq_name": "ubiquitin-fold modifier-conjugating enzyme 1", "refseq_ac": "NP_057490", "gene_names_uniprotkb": "UFC1; CGI-126; HSPC155", "gene_names_refseq": "HSPC155; NEDSG; UFC1", "protein_names_uniprotkb": "Ubiquitin-fold modifier-conjugating enzyme 1; Ufm1-conjugating enzyme 1", "protein_names_refseq": "Ufm1-conjugating enzyme 1; ubiquitin-fold modifier-conjugating enzyme 1", "tax_id": 9606, "disease": "neurodevelopmental disorder with spasticity and poor growth (Disease Ontology:DOID:0070421)", "pathway": " (hsa:51506)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "15071506;16132835;17825256;19101823;20018847;23301498;24714562;24715725;25418920;25576301;25902260;26154972;26728094;26992070;27351204;27653677;27846572;27862975;28218747;28228285;28832583;28834231;28855257;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;29868776;30315122;30429286;30524438;30626644;30779550;30833945;30886146;31222486;31844290;31848261;32157095;32160526;32488085;32502341;32897882;32983136;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34588452;34932366;35051231;35318648;35394863;35561310;35580925;35926457;36010968;36121123;36241641;36284347;37036982;37938771;37988244;38383789;38665916", "class_list": "", "function": "E2-like enzyme which specifically catalyzes the second step in ufmylation (PubMed:15071506, PubMed:29868776, PubMed:30626644, PubMed:34588452, PubMed:35394863, PubMed:36121123, PubMed:38383789). Accepts the ubiquitin-like modifier UFM1 from the E1 enzyme UBA5 and forms an intermediate with UFM1 via a thioester linkage (PubMed:15071506, PubMed:29868776, PubMed:34588452, PubMed:38383789). Ufmylation is involved in various processes, such as ribosome recycling, response to DNA damage, interferon response or reticulophagy (also called ER-phagy) (PubMed:27351204, PubMed:32160526, PubMed:35394863, PubMed:37036982, PubMed:38383789)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identification of a novel enzyme called UFC1 for Ufm1-conjugating enzyme 1., [RefSeq, PubMed]; The structure of human Ufc1 was solved by using both NMR spectroscopy and X-ray crystallography, [RefSeq, PubMed]; UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 10, "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": "A8K9R1;D3DVF9;Q549X0;Q5VTX1;Q9BS96;Q9P009", "ec_number_list": "", "go_molecular_function": "GO:0071568 UFM1 transferase activity;GO:0061657 UFM1 conjugating enzyme activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007420 brain development;GO:0034976 response to endoplasmic reticulum stress;GO:0071569 protein ufmylation;GO:0061709 reticulophagy;GO:1990592 protein K69-linked ufmylation", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9Y3C8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5T5-1", "uniprot_id": "UBP16_HUMAN", "mass": 93570.0, "length": 823, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 16", "gene_name": "USP16", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 16 isoform b", "refseq_ac": "NP_001001992", "gene_names_uniprotkb": "USP16; MSTP039", "gene_names_refseq": "UBP-M; UBPM; USP16", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 16; 3.4.19.12; Deubiquitinating enzyme 16; Ubiquitin thioesterase 16; Ubiquitin-processing protease UBP-M; Ubiquitin-specific-processing protease 16", "protein_names_refseq": "deubiquitinating enzyme 16; ubiquitin carboxyl-terminal hydrolase 16 isoform b; ubiquitin carboxyl-terminal hydrolase 16; ubiquitin specific protease 16; ubiquitin thioesterase 16; ubiquitin thiolesterase 16; ubiquitin-processing protease UBP-M; ubiquitin-specific processing protease 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:10600); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 145, "publication_id_list": "10077596;10444327;10982817;11237011;11566882;11753566;11923872;12917689;12917691;14661020;15053880;15916963;16214042;16901786;16964248;17290220;17322306;17443180;17512543;17873522;17914355;17980597;17981138;18172164;18452278;18467330;18632802;18636086;18669648;18925961;19015242;19135894;19188362;19363159;19398555;19413330;19424180;19651622;19690332;19838211;19874889;19910467;20058876;20068231;20096447;20166139;20228808;20368735;20501646;21239494;21362556;21406692;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;22898188;23159851;23186163;23395819;23481700;23486064;23824326;23825189;24013421;24025767;24056413;24260525;24493797;24896179;25197364;25305019;25418920;25576301;25578727;26323689;26375851;26758079;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28380042;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30410026;30429286;30524438;30833945;31154438;31530632;31844290;31848261;32129764;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;32999190;33141586;33392160;33546726;33592498;33633747;33691108;33912179;33968037;33981976;34087483;34171305;34357683;34509645;35051231;35494241;35580925;35953000;36010968;36284347;37938771;38462164;7578059", "class_list": "", "function": "LncRNA MNX1-AS1 sustains inactivation of Hippo pathway through a positive feedback loop with USP16/IGF2BP3 axis in gallbladder cancer., [RefSeq, PubMed]; O-GlcNAcylation stimulates the deubiquitination activity of USP16 and regulates cell cycle progression., [RefSeq, PubMed]; Specifically deubiquitinates 'Lys-120' of histone H2A (H2AK119Ub), a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator (PubMed:17914355). Deubiquitination of histone H2A is a prerequisite for subsequent phosphorylation at 'Ser-11' of histone H3 (H3S10ph), and is required for chromosome segregation when cells enter into mitosis (PubMed:17914355). In resting B- and T-lymphocytes, phosphorylation by AURKB leads to enhance its activity, thereby maintaining transcription in resting lymphocytes. Regulates Hox gene expression via histone H2A deubiquitination (PubMed:17914355). Prefers nucleosomal substrates (PubMed:17914355). Does not deubiquitinate histone H2B (PubMed:17914355). Also deubiquitinates non-histone proteins, such as ribosomal protein RPS27A: deubiquitination of monoubiquitinated RPS27A promotes maturation of the 40S ribosomal subunit (PubMed:32129764). Also mediates deubiquitination of tektin proteins (TEKT1, TEKT2, TEK3, TEKT4 and TEKT5), promoting their stability., [UniProtKB, HAMAP, PubMed, PubMed]; Study reports the solution structure of the BUZ domain of Ubp-M, a ubiquitin-specific protease, and its interaction with ubiquitin; the Ubp-M BUZ domain features three zinc-binding sites consisting of 12 residues., [RefSeq, PubMed]; This gene encodes a deubiquitinating enzyme that is phosphorylated at the onset of mitosis and then dephosphorylated at the metaphase/anaphase transition. It can deubiquitinate H2A, one of two major ubiquitinated proteins of chromatin, in vitro and a mutant form of the protein was shown to block cell division. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; USP16 Regulates the Stability and Function of LDL receptor by Deubiquitination., [RefSeq, PubMed]; USP16 regulates castration-resistant prostate cancer cell proliferation by deubiquitinating and stablizing c-Myc. 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": 13, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MU43;B3KN13;B4DFV8;B4DY37;D3DSD9;Q53GP7;Q53HA0;Q5VKN8;Q8NEL3;Q9H3E6", "ec_number_list": "3.4.19.12", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0043024 ribosomal small subunit binding;GO:0042393 histone binding;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q9Y5T5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DP72-1", "uniprot_id": "VSXL2_HUMAN", "mass": 81629.0, "length": 767, "protein_name": "V-set and immunoglobulin domain-containing protein 10-like 2", "gene_name": "VSIG10L2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "VSIG10L2", "gene_names_refseq": "", "protein_names_uniprotkb": "V-set and immunoglobulin domain-containing protein 10-like 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:338667)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;35051231", "class_list": "", "function": "", "predicted_glycosites": 5, "predicted_n_glycosites": 3, "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": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0DP72-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A3KMH1-1", "uniprot_id": "VWA8_HUMAN", "mass": 214824.0, "length": 1905, "protein_name": "von Willebrand factor A domain-containing protein 8", "gene_name": "VWA8", "organism": "Human", "refseq_name": "von Willebrand factor A domain-containing protein 8 isoform b precursor", "refseq_ac": "NP_001009814", "gene_names_uniprotkb": "VWA8; KIAA0564", "gene_names_refseq": "KIAA0564; P7BP2; RP97; VWA8", "protein_names_uniprotkb": "von Willebrand factor A domain-containing protein 8; P7BP2; PEX7-binding protein 2", "protein_names_refseq": "PEX7-binding protein 2; Pex7p-binding protein 2; von Willebrand factor A domain-containing protein 8 isoform b precursor; von Willebrand factor A domain-containing protein 8", "tax_id": 9606, "disease": "retinitis pigmentosa 97 (Disease Ontology:DOID:0061110)", "pathway": " (hsa:23078)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "20528957;20663923;20934997;22424782;22544926;23481700;24715725;25418920;25505266;25576301;25645385;25880248;25892735;26154972;26375851;26552660;26811146;26992070;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29632711;29786170;30204880;30315122;30379171;30429286;30484775;30524438;31154438;31217245;31530632;31844290;31848261;31998317;32027355;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;34087483;34171305;34185709;34357683;34405274;34509645;34561969;34932366;35051231;35580925;36010968;36241641;37012052;40596516", "class_list": "", "function": "A novel dynein-type AAA+ protein with peroxisomal targeting signal type 2., [RefSeq, PubMed]; Data suggest that P7BP2 is localized to peroxisomes by binding to PEX5 via PEX7 in manner dependent on apparent PTS2 (type 2 peroxisomal targeting signal peptide) in N-terminal region of P7BP2; the PTS2 is subsequently cleaved off in peroxisomes. (P7BP2 = PEX7-binding protein-2; PEX5 = peroxisomal biogenesis factor-5; PEX7 = peroxisomal biogenesis factor-7), [RefSeq, PubMed]; Exhibits ATPase activity in vitro., [UniProtKB, UniProtKB]; Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 5, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "O60310;Q5JTP6;Q5VW08;Q7Z6I9;Q86YC9;Q8N3E4", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005777 peroxisome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "A3KMH1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MWX3-1", "uniprot_id": "WASH4_HUMAN", "mass": 51595.0, "length": 477, "protein_name": "Putative WAS protein family homolog 4", "gene_name": "WASH4P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "WASH4P; FAM39CP", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative WAS protein family homolog 4; Protein FAM39CP", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "10655549;18159949;24715725;31844290;32387766;34087483", "class_list": "", "function": "May act as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting., [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:0003779 actin binding;GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0055037 recycling endosome;GO:0031901 early endosome membrane;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0016197 endosomal transport;GO:0034314 Arp2/3 complex-mediated actin nucleation;GO:0034315 regulation of Arp2/3 complex-mediated actin nucleation;GO:0042147 retrograde transport, endosome to Golgi;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A8MWX3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15213-1", "uniprot_id": "WDR46_HUMAN", "mass": 68071.0, "length": 610, "protein_name": "WD repeat-containing protein 46", "gene_name": "WDR46", "organism": "Human", "refseq_name": "WD repeat-containing protein 46 isoform 2", "refseq_ac": "NP_001157739", "gene_names_uniprotkb": "WDR46; BING4; C6orf11; FP221", "gene_names_refseq": "BING4; C6orf11; FP221; UTP7; WDR46", "protein_names_uniprotkb": "WD repeat-containing protein 46; WD repeat-containing protein BING4", "protein_names_refseq": "WD repeat-containing protein 46 isoform 2; WD repeat-containing protein 46; WD repeat-containing protein BING4", "tax_id": 9606, "disease": "", "pathway": " (hsa:9277); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;15199136;15498874;16037817;16043514;16381836;16565220;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18220336;18438418;18669648;19007248;19033376;19106111;19332556;19463982;19564402;19691289;19801658;19851445;20038530;20047967;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21136679;22072790;22190735;22195017;22916032;23186163;23391857;23439679;23482395;23848194;2388630;24086612;24275569;24397554;24424021;24550520;24714562;24715725;25411247;25505266;25525153;25576301;25653167;25851604;25969445;26085946;26154972;26196125;26237581;26811146;26992070;27084949;27397612;27846572;27862975;28904123;29437277;29493099;29557506;30315122;30418433;30429286;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34516797;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;36581221;37938771;9211966;9482744;9512526;9545376", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Scaffold component of the nucleolar structure. Required for localization of DDX21 and NCL to the granular compartment of the nucleolus (PubMed:23848194). 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]; When WDR46 was knocked down, nucleolin and DDX21 were mislocalized from the granular component to the edges of the nucleoli., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A6NDP5;Q5HYZ0;Q5STK5;Q5STR3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "O15213-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00258-1", "uniprot_id": "GET1_HUMAN", "mass": 19780.0, "length": 174, "protein_name": "Guided entry of tail-anchored proteins factor 1", "gene_name": "GET1", "organism": "Human", "refseq_name": "guided entry of tail-anchored proteins factor 1 isoform 2", "refseq_ac": "NP_001139690", "gene_names_uniprotkb": "GET1; CHD5; WRB", "gene_names_refseq": "CHD5; GET1; WRB", "protein_names_uniprotkb": "Guided entry of tail-anchored proteins factor 1; Congenital heart disease 5 protein; Tail-anchored protein insertion receptor WRB; Tryptophan-rich basic protein", "protein_names_refseq": "congenital heart disease 5 protein; guided entry of tail-anchored proteins factor 1 isoform 2; tail-anchored protein insertion receptor WRB; tryptophan rich basic protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:7485); (R-HSA-9609523)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "11237011;15708368;16777091;17382883;18477612;20375064;20676083;21444755;21466504;21636303;21743475;22645359;23041287;23129660;23142665;23246001;23481700;23533635;24392163;25179605;25415308;25535373;25576301;25713138;26675233;26992070;27100087;27193484;27226539;27458190;28104892;28218747;28904123;29242231;29437277;29493099;29557506;30098192;30315122;31417168;31844290;32187542;32910895;32938616;33298915;33592498;33633747;33968037;33981976;34357683;35580925;36010968;36241641;9544840", "class_list": "", "function": "A significant association with nonaccommodative esotropia was discovered (odds ratio [OR] = 1.41, P = 2.84 x 10-09) and replicated (OR = 1.23, P = 0.01) at rs2244352 [T] located within intron 1 of the WRB (tryptophan rich basic protein) gene on chromosome 21, [RefSeq, PubMed]; Required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum (ER) (PubMed:21444755, PubMed:23041287, PubMed:24392163, PubMed:27226539). Together with CAMLG/GET2, acts as a membrane receptor for soluble GET3/TRC40, which recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol (PubMed:21444755, PubMed:23041287, PubMed:24392163, PubMed:27226539). Required to ensure correct topology and ER insertion of CAMLG (PubMed:31417168, PubMed:32187542)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Results indicate calcium-modulating cyclophilin ligand (CAML) and WRB as components of the TRC40 receptor complex and a crucial mechanism for driving ER membrane insertion of TA proteins in mammalian cells., [RefSeq, PubMed]; The coiled-coil domain of WRB is the binding site for TRC40/Asna1., [RefSeq, PubMed]; This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017]., [RefSeq]; WRB gene contains a maternally imprinted differentially methylated region (DMR). The maternally inherited 5mCpG imprints at the WRB DMR are uncoupled from the parental allele expression of WRB and ten neighboring genes in twelve biosamples (brain, blood, fallopian tube, fetal large and small intestine, hESCs, large airway epithelial cells, thyroid, muscle, epidermal keratinocytes, ovary, skin, and testis). 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": "A8KAP8;A8MQ44;D3DSH9;O60740", "ec_number_list": "", "go_molecular_function": "GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005789 endoplasmic reticulum membrane;GO:0043529 GET complex", "go_biological_process": "GO:0045048 protein insertion into ER membrane;GO:0050821 protein stabilization;GO:0071816 tail-anchored membrane protein insertion into ER membrane", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "O00258-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14609-1", "uniprot_id": "XKRY_HUMAN", "mass": 18083.0, "length": 159, "protein_name": "Testis-specific XK-related protein, Y-linked", "gene_name": "XKRY", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "XKRY; XKRY1", "gene_names_refseq": "", "protein_names_uniprotkb": "Testis-specific XK-related protein, Y-linked", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "9381176", "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:0016020 membrane", "go_biological_process": "GO:0007338 single fertilization", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "O14609-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15537-1", "uniprot_id": "XLRS1_HUMAN", "mass": 25592.0, "length": 224, "protein_name": "Retinoschisin", "gene_name": "RS1", "organism": "Human", "refseq_name": "retinoschisin precursor", "refseq_ac": "NP_000321", "gene_names_uniprotkb": "RS1; XLRS1", "gene_names_refseq": "RS1; RS; XLRS1", "protein_names_uniprotkb": "Retinoschisin; X-linked juvenile retinoschisis protein", "protein_names_refseq": "X-linked juvenile retinoschisis protein; retinoschisin precursor", "tax_id": 9606, "disease": "X-linked juvenile retinoschisis 1 (Disease Ontology:DOID:0060763); retinoschisis (Disease Ontology:DOID:8465)", "pathway": " (hsa:6247)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10079181;10220153;10234514;10450864;10533068;10915776;15644328;17286855;17304551;17615541;17631851;18491316;19093009;19849666;25880248;26812435;27114531;27798099;31844290;35580925;36402656;37317958;37642422;38317323;38816767;9326935;9618178;9760195", "class_list": "", "function": "Advances in understanding the molecular structure of retinoschisin while questions remain of biological function. Review article, [RefSeq, PubMed]; Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells (PubMed:27114531). Required for normal structure and function of the retina (PubMed:19093009)., [UniProtKB, UniProtKB, PubMed, PubMed]; Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort., [RefSeq, PubMed]; Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X-linked retinoschisis from North India., [RefSeq, PubMed]; Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008]., [RefSeq]; Vitreous Hemorrhage in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Outcomes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0QD39", "ec_number_list": "", "go_molecular_function": "GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0044877 protein-containing complex binding;GO:0001786 phosphatidylserine binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0009897 external side of plasma membrane;GO:0001917 photoreceptor inner segment;GO:0032991 protein-containing complex;GO:0098984 neuron to neuron synapse", "go_biological_process": "GO:0007155 cell adhesion;GO:0051260 protein homooligomerization;GO:0007601 visual perception;GO:0010842 retina layer formation;GO:0001654 eye development", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "O15537-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75083-1", "uniprot_id": "WDR1_HUMAN", "mass": 66194.0, "length": 606, "protein_name": "WD repeat-containing protein 1", "gene_name": "WDR1", "organism": "Human", "refseq_name": "WD repeat-containing protein 1 isoform 2", "refseq_ac": "NP_005103", "gene_names_uniprotkb": "WDR1", "gene_names_refseq": "AIP1; HEL-S-52; NORI-1; PFITS; WDR1", "protein_names_uniprotkb": "WD repeat-containing protein 1; AIP1; Actin-interacting protein 1; NORI-1", "protein_names_refseq": "WD repeat-containing protein 1 isoform 2; WD repeat-containing protein 1; actin-interacting protein 1; epididymis secretory protein Li 52", "tax_id": 9606, "disease": "periodic fever, immunodeficiency, and thrombocytopenia syndrome (MONDO:MONDO:0007883)", "pathway": " (hsa:9948); (R-HSA-114608)", "pathway_count": 2, "publication_count": 124, "publication_id_list": "10.1038/emboj.2013.79;10036186;11237011;12665801;1435334;14630798;14654843;15297306;15592455;15629458;16115862;18160138;18494608;19608861;19690332;20068231;22721921;23481700;23584533;23640497;24397554;24715725;25418920;25502872;25576301;25645385;25792565;25802875;25880248;25892735;26154972;26375851;26811146;26992070;27397612;27452731;27557945;27600516;27846572;27920218;27994071;28063628;28218747;28228285;28446606;28467828;28510447;28514659;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29437277;29440662;29493099;29557506;29632046;29632711;29751004;29786170;29789417;30315122;30397120;30410026;30429286;30524438;31154438;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32601462;32723865;32897882;32938616;32983136;33043033;33141586;33214551;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;34019948;34078123;34087483;34171305;34185709;34211107;34229054;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35154160;35251023;35318648;35561310;35580925;35861209;36010968;36215666;36241641;36284347;37938771;38665916;38743149;40914422;6457647;8467233", "class_list": "", "function": "Catastrophic actin filament bursting by cofilin, Aip1, and coronin., [RefSeq, PubMed]; Induces disassembly of actin filaments in conjunction with ADF/cofilin family proteins (PubMed:15629458, PubMed:27557945, PubMed:29751004). Enhances cofilin-mediated actin severing (By similarity). Involved in cytokinesis. Involved in chemotactic cell migration by restricting lamellipodial membrane protrusions (PubMed:18494608). Involved in myocardium sarcomere organization. Required for cardiomyocyte growth and maintenance (By similarity). Involved in megakaryocyte maturation and platelet shedding. Required for the establishment of planar cell polarity (PCP) during follicular epithelium development and for cell shape changes during PCP; the function seems to implicate cooperation with CFL1 and/or DSTN/ADF. Involved in the generation/maintenance of cortical tension (By similarity). Involved in assembly and maintenance of epithelial apical cell junctions and plays a role in the organization of the perijunctional actomyosin belt (PubMed:25792565)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; WD repeat-containing protein 1 maintains beta-Catenin activity to promote pancreatic cancer aggressiveness., [RefSeq, PubMed]; WDR1 promotes prostate cancer progression through Wnt/beta-catenin signaling. Publication Status: Online-Only, [RefSeq, PubMed]; YAP signaling is involved in WDR1-regulated proliferation and migration of non-small-cell lung cancer cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 3, "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": "A8K6E9;A8MPU4;O75313;Q8N6E5;Q9UG05;Q9UG78;Q9UQE0", "ec_number_list": "", "go_molecular_function": "GO:0051015 actin filament binding;GO:0003779 actin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005911 cell-cell junction;GO:0030054 cell junction", "go_biological_process": "GO:0043297 apical junction assembly;GO:0042247 establishment of planar polarity of follicular epithelium;GO:0030834 regulation of actin filament depolymerization;GO:0002446 neutrophil mediated immunity;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "O75083-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75436-1", "uniprot_id": "VP26A_HUMAN", "mass": 38170.0, "length": 327, "protein_name": "Vacuolar protein sorting-associated protein 26A", "gene_name": "VPS26A", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 26A isoform 2", "refseq_ac": "NP_001030337", "gene_names_uniprotkb": "VPS26A; VPS26", "gene_names_refseq": "HB58; Hbeta58; PEP8A; VPS26A; VPS26", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 26A; Vesicle protein sorting 26A; hVPS26", "protein_names_refseq": "VPS26 retromer complex comonent A; vacuolar protein sorting 26 homolog A; vacuolar protein sorting-associated protein 26A isoform 2; vacuolar protein sorting-associated protein 26A; vesicle protein sorting 26A", "tax_id": 9606, "disease": "brain cancer (Disease Ontology:DOID:1319); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:9559); (R-HSA-3238698)", "pathway_count": 2, "publication_count": 137, "publication_id_list": "10694878;11031247;11102511;11231171;11237011;11433298;12717451;15078902;15078903;15247922;16190980;16315276;16364628;16407403;16645052;16678095;16678096;16732284;16784798;16964243;17108000;17117926;17141155;17322306;17397399;17868075;18160347;18160348;18193032;18193037;18430724;18452278;19442504;19531583;19566487;19619488;19619496;19651622;19837038;20068231;20477987;20533886;20682791;20826466;20923837;21554866;21602791;21725318;21725319;21768372;21886182;22027831;22041890;22046319;22070227;22094269;22094272;22108505;22279231;22431521;22653731;22784633;22888000;22952392;22983114;23148298;23260141;23481700;23563491;24344282;24714562;25502872;25576301;25645385;25802875;25880248;25892735;26154972;26375851;26728094;26992070;27862975;28467828;28510447;28832583;28892079;28904123;29493099;29508533;29557506;29632711;30213940;30429286;30484775;30573663;31844290;32157095;32265295;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33043033;33392160;33537174;33592498;33717175;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34357683;34932366;35051231;35138101;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;36834898;37938771;40914422;8167409;8262072;8985181;9653160", "class_list": "", "function": "Acts as a component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins (Probable). The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5 (Probable). Required for retrograde transport of lysosomal enzyme receptor IGF2R (PubMed:15078902, PubMed:15078903). Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (PubMed:15247922). Required for the endosomal localization of WASHC2A (indicative for the WASH complex) (PubMed:22070227). Required for the endosomal localization of TBC1D5 (PubMed:20923837). Mediates retromer cargo recognition of SORL1 and is involved in trafficking of SORL1 implicated in sorting and processing of APP (PubMed:22279231). Involved in retromer-independent lysosomal sorting of F2R (PubMed:16407403). Involved in recycling of ADRB2 (PubMed:21602791). Enhances the affinity of SNX27 for PDZ-binding motifs in cargo proteins (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Membrane recruitment of the cargo-selective retromer subcomplex VPS35/29/26 is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5., [RefSeq, PubMed]; The Prognostic Value and the Oncogenic and Immunological Roles of Vacuolar Protein Sorting Associated Protein 26 A in Pancreatic Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "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": "A8MZ56;B2RDD3;Q8TBH4;Q9H982", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0030906 retromer, cargo-selective complex;GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005764 lysosome", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016241 regulation of macroautophagy;GO:0042147 retrograde transport, endosome to Golgi;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "O75436-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P41587-1", "uniprot_id": "VIPR2_HUMAN", "mass": 49479.0, "length": 438, "protein_name": "Vasoactive intestinal polypeptide receptor 2", "gene_name": "VIPR2", "organism": "Human", "refseq_name": "vasoactive intestinal polypeptide receptor 2 isoform 2 precursor", "refseq_ac": "NP_001291451", "gene_names_uniprotkb": "VIPR2; VIP2R", "gene_names_refseq": "C16DUPq36.3; DUP7q36.3; PACAP-R-3; PACAP-R3; VIP-R-2; VIPR2; VPAC2R; VPAC2; VPCAP2R", "protein_names_uniprotkb": "Vasoactive intestinal polypeptide receptor 2; Helodermin-preferring VIP receptor; PACAP type III receptor; PACAP-R-3; PACAP-R3; Pituitary adenylate cyclase-activating polypeptide type III receptor; VIP-R-2; VPAC2 receptor; VPAC2R", "protein_names_refseq": "PACAP type III receptor; VIP and PACAP receptor 2; VPAC2 receptor; helodermin-preferring VIP receptor; pituitary adenylate cyclase-activating polypeptide type III receptor; vasoactive intestinal polypeptide receptor 2 isoform 2 precursor; vasoactive intestinal polypeptide receptor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7434); (R-HSA-418555); (R-HSA-420092)", "pathway_count": 3, "publication_count": 86, "publication_id_list": "10322410;10481065;10698200;11007482;11060443;11237011;11946536;12036966;12058044;12106601;12180353;12860470;1333056;13549488;14671004;1517224;15464082;15471943;15765929;15769620;15951850;16313925;16687412;16923326;17168849;1739432;18044684;18577758;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24687066;24715725;2491850;2553411;2553705;26417854;26992070;2826231;2871555;29443750;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32387766;32497535;32540603;32618402;32715661;33049737;33392160;35051231;35477937;36215666;37807848;38222453;38809694;3899557;6085243;6192430;6745415;7589426;7680413;7700244;7811244;7902709;8144028;8340388;8390245;8514797;8672451;8926282;8933357;8938447;9263355;9417641;9651336;9990065", "class_list": "", "function": "G protein-coupled receptor activated by the neuropeptides vasoactive intestinal peptide (VIP) and pituitary adenylate cyclase-activating polypeptide (ADCYAP1/PACAP) (PubMed:7811244, PubMed:35477937, PubMed:8933357). Binds VIP and both PACAP27 and PACAP38 bioactive peptides with the following order of potency PACAP38 = VIP > PACAP27 (PubMed:35477937, PubMed:8933357). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors. Activates cAMP-dependent pathway (PubMed:7811244, PubMed:35477937, PubMed:8933357). May be coupled to phospholipase C., [UniProtKB, PubMed, PubMed, PubMed]; Outdoor time influences VIPR2 polymorphism rs2071623 to regulate axial length in Han Chinese children. Publication Status: Online-Only, [RefSeq, PubMed]; Seaweed intake modulates the association between VIPR2 variants and the incidence of metabolic syndrome in middle-aged Koreans. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. [provided by RefSeq, Aug 2011]., [RefSeq]; VPAC2 Receptor Signaling Promotes Growth and Immunosuppression in Pancreatic Cancer., [RefSeq, 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": 5, "reported_glycation": 0, "reported_snv": 21, "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": "Q13053;Q15870;Q53Y09;Q6ZN22;Q9UCW0", "ec_number_list": "", "go_molecular_function": "GO:0001634 pituitary adenylate cyclase-activating polypeptide receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0017046 peptide hormone binding;GO:0008528 G protein-coupled peptide receptor activity;GO:0004999 vasoactive intestinal polypeptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "P41587-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54219-1", "uniprot_id": "VMAT1_HUMAN", "mass": 56257.0, "length": 525, "protein_name": "Chromaffin granule amine transporter", "gene_name": "SLC18A1", "organism": "Human", "refseq_name": "chromaffin granule amine transporter isoform a", "refseq_ac": "NP_001129163", "gene_names_uniprotkb": "SLC18A1; VAT1; VMAT1", "gene_names_refseq": "CGAT; SLC18A1; VAT1; VMAT1", "protein_names_uniprotkb": "Chromaffin granule amine transporter; Solute carrier family 18 member 1; VAT1; Vesicular amine transporter 1", "protein_names_refseq": "chromaffin granule amine transporter isoform a; chromaffin granule amine transporter; solute carrier family 18 (vesicular monoamine transporter), member 1; solute carrier family 18 (vesicular monoamine), member 1; solute carrier family 18 member 1; vesicular amine transporter 1", "tax_id": 9606, "disease": "von Hippel-Lindau disease (Disease Ontology:DOID:14175); bipolar disorder (Disease Ontology:DOID:3312); schizophrenia (Disease Ontology:DOID:5419); amphetamine abuse (Disease Ontology:DOID:670); cocaine abuse (Disease Ontology:DOID:809)", "pathway": " (hsa:6570)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;12807698;16326835;23337945;30656852;31317476;31791232;31844290;32938616;35051231;35524772;36010968;37938771;8643547", "class_list": "", "function": "Electrogenic antiporter that exchanges one cationic monoamine with two intravesicular protons across the membrane of secretory and synaptic vesicles. Uses the electrochemical proton gradient established by the V-type proton-pump ATPase to accumulate high concentrations of monoamines inside the vesicles prior to their release via exocytosis. Transports catecholamines and indolamines with higher affinity for serotonin (PubMed:16326835, PubMed:23337945, PubMed:8643547). Regulates the transvesicular monoaminergic gradient that determines the quantal size. Mediates presynaptic monoaminergic vesicle transport in the amygdala and prefrontal brain regions related with emotion processing in response to environmental stimuli (PubMed:23337945)., [UniProtKB, PubMed, PubMed, PubMed]; Finding suggests that monoamine uptake by VMAT1 initially declined in early human evolution (from 130Glu/136Asn to 130Gly/136Thr) but increased along with the emergence of the 130Gly/136Ile variant around the time of the out of Africa dispersal of modern humans. Publication Status: Online-Only, [RefSeq, PubMed]; Human bronchial arterial smooth muscle cells express OCT-1 and extraneuronal monoamine transporter(EMT). EMT is the predominant plasma membrane transporter for norepinephrine uptake., [RefSeq, PubMed]; SLC18A1 variants correlated with Anger and Vigor scores, only among males., [RefSeq, PubMed]; SV2 was highly expressed in neuroblastoma (NB) and can thus be useful marker in NB diagnostics. VMAT1 and VMAT2 were also expressed in NB but similar to syn less reliable as tumor markers., [RefSeq, PubMed]; Sclerosing Paragangliomas: Correlations of Histological Features with Patients' Genotype and Vesicular Monoamine Transporter Expression., [RefSeq, PubMed]; The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]., [RefSeq]; Unable to uptake serotonin., [UniProtKB, PubMed]; VMAT1Delta15 is not localized in large, dense core vesicles as the native form but in the endoplasmic reticulum. While VMAT1 can take up serotonin, VMAT1Delta15 cannot, indicating different functions for the two forms of VMAT1., [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": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "E9PDJ5;Q9BRE4", "ec_number_list": "", "go_molecular_function": "GO:0008504 monoamine transmembrane transporter activity;GO:0005335 serotonin:sodium:chloride symporter activity;GO:0015311 monoamine:proton antiporter activity", "go_cellular_component": "GO:0070083 clathrin-sculpted monoamine transport vesicle membrane;GO:0043195 terminal bouton;GO:0005789 endoplasmic reticulum membrane;GO:0030667 secretory granule membrane;GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:0015844 monoamine transport;GO:0015872 dopamine transport;GO:0090494 dopamine uptake;GO:0051610 serotonin uptake;GO:0015842 aminergic neurotransmitter loading into synaptic vesicle", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "P54219-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q05940-1", "uniprot_id": "VMAT2_HUMAN", "mass": 55713.0, "length": 514, "protein_name": "Synaptic vesicular amine transporter", "gene_name": "SLC18A2", "organism": "Human", "refseq_name": "synaptic vesicular amine transporter", "refseq_ac": "NP_003045", "gene_names_uniprotkb": "SLC18A2; SVMT; VMAT2", "gene_names_refseq": "PKDYS2; SLC18A2; SVAT; SVMT; VAT2; VMAT2", "protein_names_uniprotkb": "Synaptic vesicular amine transporter; Solute carrier family 18 member 2; VAT2; Vesicular amine transporter 2; Vesicular monoamine transporter 2", "protein_names_refseq": "monoamine neurotransmitter transporter; solute carrier family 18 (vesicular monoamine transporter), member 2; synaptic vesicle amine transporter, brain; synaptic vesicle monoamine transporter, brain; synaptic vesicular amine transporter; vesicle monoamine transporter type 2; vesicle monoamine/H+ antiporter; vesicular amine transporter 2; vesicular monoamine transporter 2", "tax_id": 9606, "disease": "infantile parkinsonism-dystonia 2 (Disease Ontology:DOID:0070490); Parkinson's disease (Disease Ontology:DOID:14330); Machado-Joseph disease (Disease Ontology:DOID:1440); anxiety disorder (Disease Ontology:DOID:2030); substance-related disorder (Disease Ontology:DOID:303); toxic encephalopathy (Disease Ontology:DOID:3602); amphetamine abuse (Disease Ontology:DOID:670); cocaine abuse (Disease Ontology:DOID:809); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:6571); (R-HSA-181429); (R-HSA-181430); (R-HSA-212676)", "pathway_count": 4, "publication_count": 37, "publication_id_list": "11443533;12009896;12519779;15935055;17301226;17478680;17766642;17891149;17989281;18088087;18617632;22898188;23363473;2892215;32387766;32938616;33392160;35051231;35524772;36318270;37914936;38081299;38163846;38517752;39284862;7823026;7905859;8095030;8211186;8245983;8373557;8643547;8860238;9045708;9260930;9701566;9753324", "class_list": "", "function": "Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals., [RefSeq, PubMed]; Electrogenic antiporter that exchanges one cationic monoamine with two intravesicular protons across the membrane of secretory and synaptic vesicles. Uses the electrochemical proton gradient established by the V-type proton-pump ATPase to accumulate high concentrations of monoamines inside the vesicles prior to their release via exocytosis. Transports a variety of catecholamines such as dopamine, adrenaline and noradrenaline, histamine, and indolamines such as serotonin (PubMed:23363473, PubMed:37914936, PubMed:38081299, PubMed:38517752, PubMed:8643547). Regulates the transvesicular monoaminergic gradient that determines the quantal size. Mediates somatodendritic dopamine release in hippocampal neurons, likely as part of a regulated secretory pathway that integrates retrograde synaptic signals (By similarity). Acts as a primary transporter for striatal dopamine loading ensuring impulse-dependent release of dopamine at the synaptic cleft (By similarity). Responsible for histamine and serotonin storage and subsequent corelease from mast cell granules (PubMed:8860238)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Neurotransmitter recognition by human vesicular monoamine transporter 2. Publication Status: Online-Only, [RefSeq, PubMed]; Sclerosing Paragangliomas: Correlations of Histological Features with Patients' Genotype and Vesicular Monoamine Transporter Expression., [RefSeq, PubMed]; This gene encodes an transmembrane protein that functions as an ATP-dependent transporter of monoamines, such as dopamine, norepinephrine, serotonin, and histamine. This protein transports amine neurotransmitters into synaptic vesicles. Polymorphisms in this gene may be associated with schizophrenia, bipolar disorder, and other neurological/psychiatric ailments. [provided by RefSeq, Jun 2018]., [RefSeq]; Transport and inhibition mechanism for VMAT2-mediated synaptic vesicle loading of monoamines., [RefSeq, PubMed]; Transport and inhibition mechanisms of human VMAT2., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 63, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RC96;D3DRC4;Q15876;Q4G147;Q5VW49;Q9H3P6", "ec_number_list": "", "go_molecular_function": "GO:0008504 monoamine transmembrane transporter activity;GO:0005335 serotonin:sodium:chloride symporter activity;GO:0015311 monoamine:proton antiporter activity", "go_cellular_component": "GO:0070083 clathrin-sculpted monoamine transport vesicle membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:1903427 negative regulation of reactive oxygen species biosynthetic process;GO:0015844 monoamine transport;GO:0007268 chemical synaptic transmission;GO:0015872 dopamine transport;GO:0051615 histamine uptake", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q05940-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5JSH3-1", "uniprot_id": "WDR44_HUMAN", "mass": 101366.0, "length": 913, "protein_name": "WD repeat-containing protein 44", "gene_name": "WDR44", "organism": "Human", "refseq_name": "WD repeat-containing protein 44 isoform 2", "refseq_ac": "NP_001171894", "gene_names_uniprotkb": "WDR44; RPH11", "gene_names_refseq": "RAB11BP; RPH11; SYM-4; WDR44", "protein_names_uniprotkb": "WD repeat-containing protein 44; Rab11-binding protein; Rab11BP; Rabphilin-11", "protein_names_refseq": "WD repeat-containing protein 44 isoform 2; rab11-binding protein; rabphilin-11", "tax_id": 9606, "disease": "", "pathway": " (hsa:54521)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15302935;16964243;17081983;17287340;17525332;18077418;18220336;18452278;18510355;18669648;18691976;18767875;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068231;20166139;20230923;21406692;23186163;23301498;23481700;24275569;24715725;25576301;25892735;26154972;26768311;26992070;27600516;27846572;27920218;28218747;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30484775;30524438;30784271;31204173;31665227;31844290;31848261;32157095;32344433;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34171305;34357683;35051231;35251023;35580925;36284347;38191484", "class_list": "", "function": "Downstream effector for Rab11 which regulates Rab11 intracellular membrane trafficking functions such as endocytic recycling, intracellular ciliogenesis and protein export (PubMed:31204173, PubMed:32344433). ATK1-mediated phosphorylation of WDR44 induces binding to Rab11 which activates endocytic recycling of transferrin receptor back to the plasma membrane (PubMed:31204173). When bound to Rab11, prevents the formation of the ciliogenic Rab11-Rabin8/RAB3IP-RAB11FIP3 complex, therefore inhibiting preciliary trafficking and ciliogenesis (PubMed:31204173). Participates in neo-synthesized protein export by connecting the endoplasmic reticulum (ER) with the endosomal tubule via direct interactions with the integral ER proteins VAPA or VAPB and the endosomal protein GRAFs (GRAF1/ARHGAP26 or GRAF2/ARHGAP10), which facilitates the transfer of proteins such as E-cadherin, MPP14 and CFTR into a Rab8-Rab10-Rab11-dependent export route (PubMed:32344433)., [UniProtKB, PubMed, PubMed]; GRAF2, WDR44, and MICAL1 mediate Rab8/10/11-dependent export of E-cadherin, MMP14, and CFTR DeltaF508., [RefSeq, PubMed]; This gene encodes a protein that interacts with the small GTPase rab11. A similar protein in rat binds the GTP-containing active form of rab11. This protein may play a role in endosome recycling. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]., [RefSeq]; Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. 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": 46, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 22, "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": "B4DSE9;F8W913;Q0JS52;Q0JTF3;Q5JSH2;Q6ZSC1;Q7Z365;Q7Z3P6;Q8NAU8;Q8NHU5;Q9NUV4", "ec_number_list": "", "go_molecular_function": "GO:0031267 small GTPase binding;GO:0140313 molecular sequestering activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0010008 endosome membrane", "go_biological_process": "GO:1902018 negative regulation of cilium assembly;GO:0060627 regulation of vesicle-mediated transport;GO:0061824 cytosolic ciliogenesis", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q5JSH3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VTH9-1", "uniprot_id": "DNAI4_HUMAN", "mass": 94573.0, "length": 848, "protein_name": "Dynein axonemal intermediate chain 4", "gene_name": "DNAI4", "organism": "Human", "refseq_name": "dynein axonemal intermediate chain 4 isoform 1", "refseq_ac": "NP_079039", "gene_names_uniprotkb": "DNAI4; WDR78", "gene_names_refseq": "DIC4; DNAI4; WDR78", "protein_names_uniprotkb": "Dynein axonemal intermediate chain 4; WD repeat-containing protein 78", "protein_names_refseq": "WD repeat domain 78; WD repeat-containing protein 78; dynein axonemal intermediate chain 4 isoform 1; dynein intermediate chain 4, axonemal", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340)", "pathway": " (hsa:79819)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;26992070;31844290;32387766;33392160;33968037;34509645;35051231;37340703", "class_list": "", "function": "Plays a critical role in the assembly of axonemal dynein complex, thereby playing a role in ciliary motility., [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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K9W5;B5MDT3;H7BY80;Q5VTI0;Q8N5G5;Q9H5R9;Q9UF44", "ec_number_list": "", "go_molecular_function": "GO:0045503 dynein light chain binding;GO:0045504 dynein heavy chain binding", "go_cellular_component": "GO:0031514 motile cilium;GO:0005930 axoneme;GO:0005858 axonemal dynein complex;GO:0120293 dynein axonemal particle", "go_biological_process": "GO:0003341 cilium movement;GO:0070286 axonemal dynein complex assembly", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5VTH9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6I9-1", "uniprot_id": "TX264_HUMAN", "mass": 34189.0, "length": 313, "protein_name": "Testis-expressed protein 264", "gene_name": "TEX264", "organism": "Human", "refseq_name": "testis-expressed protein 264 isoform 1", "refseq_ac": "NP_001123356", "gene_names_uniprotkb": "TEX264; PRO536; ZSIG11", "gene_names_refseq": "TEX264; ZSIG11", "protein_names_uniprotkb": "Testis-expressed protein 264; Putative secreted protein Zsig11", "protein_names_refseq": "testis expressed gene 264; testis-expressed protein 264 isoform 1; testis-expressed protein 264; testis-expressed sequence 264 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51368); (R-HSA-114608)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;12975309;1435334;14630798;15297306;17081983;23186163;23640497;24275569;25502872;25813380;28228285;28510447;28904123;29317506;31006537;31006538;31092671;31611695;31844290;32152270;32157095;32350084;32357974;32983136;33592498;33633747;33968037;34357683;35251023;36010968;36241641;39265577;6457647;8467233", "class_list": "", "function": "A long intrinsically disordered region of TEX264 is required for its ER-phagy receptor function to bridge the gap between the ER and autophagosomal membranes independently of its amino acid sequence. These results suggest that TEX264 is a major ER-phagy receptor., [RefSeq, PubMed]; Major reticulophagy (also called ER-phagy) receptor that acts independently of other candidate reticulophagy receptors to remodel subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006537, PubMed:31006538). The ATG8-containing isolation membrane (IM) cradles a tubular segment of TEX264-positive ER near a three-way junction, allowing the formation of a synapse of 2 juxtaposed membranes with trans interaction between the TEX264 and ATG8 proteins (PubMed:31006537). Expansion of the IM would extend the capture of ER, possibly through a 'zipper-like' process involving continued trans TEX264-ATG8 interactions, until poorly understood mechanisms lead to the fission of relevant membranes and, ultimately, autophagosomal membrane closure (PubMed:31006537). Also involved in the repair of covalent DNA-protein cross-links (DPCs) during DNA synthesis: acts by bridging VCP/p97 to covalent DNA-protein cross-links (DPCs) and initiating resolution of DPCs by SPRTN (PubMed:32152270)., [UniProtKB, PubMed, PubMed, PubMed]; TEX264 drives selective autophagy of DNA lesions to promote DNA repair and cell survival., [RefSeq, PubMed]; TEX264 recognises both unmodified and SUMO1-modifed TOP1 and initiates TOP1cc repair by recruiting p97 and SPRTN. Publication Status: Online-Only, [RefSeq, PubMed]; TEX264, an endoplasmic reticulum (ER)resident protein, remodels subdomainsof the ER into ring-like structures inassociation with ATG8 proteins uponnutrient stress, which then fuse withlysosomes for ER turnover., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 2, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "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": "B3KN87;Q9UKD7", "ec_number_list": "", "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0061709 reticulophagy;GO:0106300 protein-DNA covalent cross-linking repair", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9Y6I9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H3S3-1", "uniprot_id": "TMPS5_HUMAN", "mass": 49560.0, "length": 457, "protein_name": "Transmembrane protease serine 5", "gene_name": "TMPRSS5", "organism": "Human", "refseq_name": "transmembrane protease serine 5 isoform 4", "refseq_ac": "NP_001275680", "gene_names_uniprotkb": "TMPRSS5", "gene_names_refseq": "SPINESIN; TMPRSS5", "protein_names_uniprotkb": "Transmembrane protease serine 5; 3.4.21.-; Spinesin", "protein_names_refseq": "transmembrane protease serine 5 isoform 4; transmembrane protease, serine 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:80975)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;11741986;12484779;17918732;25418920;32502341;35051231", "class_list": "", "function": "May play a role in hearing., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The purified IGF-binding protein-5 (IGFBP-5) protease fraction secreted by cultured human osteoblasts has been characterized as ADAM9., [RefSeq, PubMed]; This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008233 peptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043025 neuronal cell body", "go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9H3S3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZT98-1", "uniprot_id": "TTLL7_HUMAN", "mass": 102999.0, "length": 887, "protein_name": "Tubulin polyglutamylase TTLL7", "gene_name": "TTLL7", "organism": "Human", "refseq_name": "tubulin polyglutamylase TTLL7 isoform 1", "refseq_ac": "NP_078962", "gene_names_uniprotkb": "TTLL7", "gene_names_refseq": "TTLL7", "protein_names_uniprotkb": "Tubulin polyglutamylase TTLL7; 6.3.2.-; Testis development protein NYD-SP30; Tubulin--tyrosine ligase-like protein 7", "protein_names_refseq": "testis development protein NYD-SP30; tubulin polyglutamylase TTLL7 isoform 1; tubulin polyglutamylase TTLL7; tubulin tyrosine ligase-like family, member 7; tubulin--tyrosine ligase-like protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:79739); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "11237011;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20519502;21074048;23358242;25103237;25468068;25957412;25959773;26992070;27600516;28832583;28834231;28904123;29146868;29242379;29557506;31154438;31844290;31848261;32157095;32357974;32938616;33298915;33592498;33912179;33968037;34561969;35051231;36010968;7452228", "class_list": "", "function": "Polyglutamylase which modifies tubulin, generating polyglutamate side chains of variable lengths on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin (PubMed:16901895, PubMed:25959773). Mediates both ATP-dependent initiation and elongation steps of the polyglutamylation reaction (PubMed:16901895, PubMed:25959773). Preferentially modifies the beta-tubulin tail over an alpha-tail (PubMed:16901895, PubMed:25959773). Competes with monoglycylase TTLL3 for modification site on beta-tubulin substrate, thereby creating an anticorrelation between glycylation and glutamylation reactions (By similarity). Required for neurite growth; responsible for the strong increase in tubulin polyglutamylation during postnatal neuronal maturation (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 13, "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": "Q5TAX8;Q5TAX9;Q6P990;Q86YS1;Q9H5U4", "ec_number_list": "3.6.5.-;6.3.2.-;6.-.-.-", "go_molecular_function": "GO:0070740 tubulin-glutamic acid ligase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0015631 tubulin binding;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005874 microtubule;GO:0030425 dendrite;GO:0043204 perikaryon;GO:0036064 ciliary basal body", "go_biological_process": "GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0000226 microtubule cytoskeleton organization;GO:0018095 protein polyglutamylation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q6ZT98-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04216-1", "uniprot_id": "THY1_HUMAN", "mass": 17935.0, "length": 161, "protein_name": "Thy-1 membrane glycoprotein", "gene_name": "THY1", "organism": "Human", "refseq_name": "thy-1 membrane glycoprotein isoform 1 preproprotein", "refseq_ac": "NP_001298089", "gene_names_uniprotkb": "THY1", "gene_names_refseq": "CD90; CDw90; THY1", "protein_names_uniprotkb": "Thy-1 membrane glycoprotein; CDw90; Thy-1 antigen", "protein_names_refseq": "Thy-1 T-cell antigen; Thy-1 membrane glycoprotein; thy-1 antigen; thy-1 membrane glycoprotein isoform 1 preproprotein", "tax_id": 9606, "disease": "retinal ischemia (Disease Ontology:DOID:12510); retinal disease (Disease Ontology:DOID:5679)", "pathway": " (hsa:7070); (R-HSA-163125)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "37268159;10944468;11072085;11237011;19159218;19349973;24190977;2443973;25502872;25576301;27846572;28228285;2864690;28871256;29557506;29741879;29786170;31844290;32938616;33141586;33214551;33592498;3422494;34737243;35051231;36633486;36949573;37074911;37938771;38254918;38665916;7683034", "class_list": "", "function": "CD44, CD90 and CD96 expression in immune thrombocytopenia purpura (ITP) patients., [RefSeq, PubMed]; Circulating Cancer Stem Cells Expressing EpCAM/CD90 in Hepatocellular Carcinoma: A Pilot Study for Predicting Tumor Recurrence after Living Donor Liver Transplantation., [RefSeq, PubMed]; High Expression of THY1 in Intestinal Gastric Cancer as a Key Factor in Tumor Biology: A Poor Prognosis-Independent Marker Related to the Epithelial-Mesenchymal Transition Profile. Publication Status: Online-Only, [RefSeq, PubMed]; Integrative analysis implicates the significance of m6A in the liver fibrosis of biliary atresia by regulating THY1. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in cell-cell or cell-ligand interactions during synaptogenesis and other events in the brain., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a cell surface glycoprotein and member of the immunoglobulin superfamily of proteins. The encoded protein is involved in cell adhesion and cell communication in numerous cell types, but particularly in cells of the immune and nervous systems. The encoded protein is widely used as a marker for hematopoietic stem cells. This gene may function as a tumor suppressor in nasopharyngeal carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 67, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q16008;Q9NSP1", "ec_number_list": "", "go_molecular_function": "GO:0034235 GPI anchor binding;GO:0005096 GTPase activator activity;GO:0005178 integrin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0001525 angiogenesis;GO:0007229 integrin-mediated signaling pathway;GO:0007267 cell-cell signaling;GO:0043547 positive regulation of GTPase activity;GO:0006469 negative regulation of protein kinase activity", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "P04216-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N966-1", "uniprot_id": "ZDH22_HUMAN", "mass": 29100.0, "length": 263, "protein_name": "Palmitoyltransferase ZDHHC22", "gene_name": "ZDHHC22", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC22", "refseq_ac": "NP_777636", "gene_names_uniprotkb": "ZDHHC22; C14orf59", "gene_names_refseq": "C14orf59; ZDHHC22", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC22; 2.3.1.225; DHHC-22; Zinc finger DHHC domain-containing protein 22; zDHHC22", "protein_names_refseq": "DHHC-22; palmitoyltransferase ZDHHC22; putative palmitoyltransferase ZDHHC22; zinc finger DHHC domain-containing protein 22; zinc finger DHHC-type containing 22; zinc finger DHHC-type palmitoyltransferase 22; zinc finger, DHHC domain containing 22", "tax_id": 9606, "disease": "", "pathway": " (hsa:283576)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;16647879;22399288;29287726;32938616;33629465;35541896", "class_list": "", "function": "NS1-mediated upregulation of ZDHHC22 acyltransferase in influenza a virus infected cells., [RefSeq, PubMed]; Palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates and be involved in a variety of cellular processes (PubMed:22399288). Catalyzes the palmitoylation of KCNMA1, regulating localization of KCNMA1 to the plasma membrane (PubMed:22399288). Might also mediate palmitoylation of CNN3 (By similarity)., [UniProtKB, UniProtKB, PubMed]; Taken together, our results suggest that palmitoylation by ZDHHC22 at C241 in the CCN3 TSP1 domain may be required for the secretion of CCN3. Aberrant palmitoylation induces intracellular accumulation of CCN3, inhibiting neuronal axon growth., [RefSeq, PubMed]; ZDHHC22-mediated mTOR palmitoylation restrains breast cancer growth and endocrine therapy resistance. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NH02;B7Z2L5;Q149P4", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0019706 protein-cysteine S-palmitoyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0006612 protein targeting to membrane;GO:0018345 protein palmitoylation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8N966-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14763-1", "uniprot_id": "TR10B_HUMAN", "mass": 47878.0, "length": 440, "protein_name": "Tumor necrosis factor receptor superfamily member 10B", "gene_name": "TNFRSF10B", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 10B isoform 1 precursor", "refseq_ac": "NP_003833", "gene_names_uniprotkb": "TNFRSF10B; DR5; KILLER; PRO186; TRAILR2; TRICK2; ZTNFR9", "gene_names_refseq": "CD262; DR5; KILLER/DR5; KILLER; TNFRSF10B; TRAIL-R2; TRAILR2; TRICK2A; TRICK2B; TRICK2; TRICKB; ZTNFR9", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 10B; Death receptor 5; TNF-related apoptosis-inducing ligand receptor 2; TRAIL receptor 2; TRAIL-R2", "protein_names_refseq": "Fas-like protein; TNF-related apoptosis-inducing ligand receptor 2; apoptosis inducing protein TRICK2A/2B; apoptosis inducing receptor TRAIL-R2; cytotoxic TRAIL receptor-2; death domain containing receptor for TRAIL/Apo-2L; death receptor 5; p53-regulated DNA damage-inducible cell death receptor(killer); tumor necrosis factor receptor superfamily member 10B isoform 1 precursor; tumor necrosis factor receptor superfamily member 10B; tumor necrosis factor receptor superfamily, member 10b; tumor necrosis factor receptor-like protein ZTNFR9", "tax_id": 9606, "disease": "colon cancer (Disease Ontology:DOID:219); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); osteoarthritis (Disease Ontology:DOID:8398)", "pathway": " (hsa:8795); (R-HSA-140534); (R-HSA-202733); (R-HSA-3371378); (R-HSA-5213460); (R-HSA-5218900); (R-HSA-6803211); (R-HSA-69416); (R-HSA-75158)", "pathway_count": 9, "publication_count": 191, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10072170;10542098;10549288;10606205;10764623;10777207;10837247;10894160;11207550;11237011;11256994;11382926;11384965;11463813;11564780;11717445;11779189;11812992;12070135;12181749;12198154;12208882;12215447;12469115;12620239;12620240;12782713;12887920;12912912;12975309;14529530;14615387;14623878;14759258;15000751;15024054;15289308;15289496;15322075;15528364;15681301;15721307;15760909;15769996;15814722;1591491;16230375;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17327223;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18190721;18256533;18485876;18838202;18846110;19278658;19279206;19416807;19524512;19524513;19615968;19683492;20218968;20308068;20353938;20696707;20852190;20951169;21193412;21235526;21654843;21659548;21737330;22265413;22421439;22424782;22544926;22817896;23365256;23481700;23498957;23555243;23584533;23719902;23945545;24043627;24059293;24316671;24703947;24764293;24813885;2538457;25502872;25645385;25813380;26154972;26378048;28467828;29242379;29314611;29371260;29557506;29681455;29930286;30410026;30573663;30779550;30902834;31217245;31530632;31611695;31844290;31896813;32157095;32161166;32269263;32350084;32387766;32488085;32561730;32938616;32983136;33141586;33392160;33592498;33912179;33936100;33968037;33981976;34078123;34357683;34433824;34932366;35051231;35154160;35561310;35580925;36012252;36153316;36215666;36241641;36791922;36888983;37879960;468991;7509040;7521878;7566179;8163559;8166770;8314844;8777713;9052782;9082980;9169774;9242610;9242611;9285725;9295288;9311998;9325248;9326928;9373179;9382878;9430227;9693095;9721089;9763524;9880531", "class_list": "", "function": "Death receptor 5 promotes tumor progression in gastric cancer., [RefSeq, PubMed]; Inhibition of USP1 enhances anticancer drugs-induced cancer cell death through downregulation of survivin and miR-216a-5p-mediated upregulation of DR5. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for the cytotoxic ligand TNFSF10/TRAIL (PubMed:10549288). The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF-kappa-B. Essential for ER stress-induced apoptosis., [UniProtKB, PubMed, PubMed, PubMed]; Restoring TRAILR2/DR5-Mediated Activation of Apoptosis upon Endoplasmic Reticulum Stress as a Therapeutic Strategy in Cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; TNFRSF10B is involved in motor dysfunction in Parkinson's disease by regulating exosomal alpha-synuclein secretion from microglia., [RefSeq, PubMed]; TRAIL or TRAIL-R2 as a Predictive Biomarker for Mortality or Cardiovascular Events: A Systematic Review and Meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily, and contains an intracellular death domain. This receptor can be activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL/APO-2L), and transduces an apoptosis signal. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. Two transcript variants encoding different isoforms and one non-coding transcript have been found for this gene. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O14720;O15508;O15517;O15531;Q6UXM8;Q7Z360;Q9BVE0", "ec_number_list": "", "go_molecular_function": "GO:0045569 TRAIL binding;GO:0038023 signaling receptor activity;GO:0036463 TRAIL receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 19.7, "record_id": "O14763-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14669-1", "uniprot_id": "TMG2_HUMAN", "mass": 22393.0, "length": 202, "protein_name": "Transmembrane gamma-carboxyglutamic acid protein 2", "gene_name": "PRRG2", "organism": "Human", "refseq_name": "transmembrane gamma-carboxyglutamic acid protein 2 isoform 1 precursor", "refseq_ac": "NP_000942", "gene_names_uniprotkb": "PRRG2; PRGP2; TMG2", "gene_names_refseq": "PRGP2; PRRG2", "protein_names_uniprotkb": "Transmembrane gamma-carboxyglutamic acid protein 2; Proline-rich Gla protein 2; Proline-rich gamma-carboxyglutamic acid protein 2", "protein_names_refseq": "proline rich Gla (G-carboxyglutamic acid) 2; proline-rich Gla (G-carboxglutamic acid) polypeptide 2; proline-rich Gla (G-carboxyglutamic acid) polypeptide 2; proline-rich Gla protein 2; proline-rich gamma-carboxyglutamic acid protein 2; transmembrane gamma-carboxyglutamic acid protein 2 isoform 1 precursor; transmembrane gamma-carboxyglutamic acid protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5639)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;17502622;23873930;25576301;29557506;31844290;32357974;35051231;36215666;39880037;9256434", "class_list": "", "function": "Cellular localization and characterization of cytosolic binding partners for Gla domain-containing proteins PRRG4 and PRRG2., [RefSeq, PubMed]; PRGP2 may be involved in a signal transduction pathway, the impairment of which may be an unintended consequence of warfarin therapy, [RefSeq, PubMed]; The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]., [RefSeq]; Vitamin K-dependent protein that is essential for calcium homeostasis and haemostasis., [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": 11, "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": "Q6IBF8", "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": 1.2, "record_id": "O14669-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z410-1", "uniprot_id": "TMPS9_HUMAN", "mass": 114021.0, "length": 1059, "protein_name": "Transmembrane protease serine 9", "gene_name": "TMPRSS9", "organism": "Human", "refseq_name": "transmembrane protease serine 9 isoform 1", "refseq_ac": "NP_892018", "gene_names_uniprotkb": "TMPRSS9", "gene_names_refseq": "TMPRSS9", "protein_names_uniprotkb": "Transmembrane protease serine 9; 3.4.21.-; Polyserase-1; Polyserase-I; Polyserine protease 1", "protein_names_refseq": "polyserase-1; polyserase-I; polyserine protease 1; transmembrane protease serine 9 isoform 1; transmembrane protease, serine 9", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:360200)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;12886014;16872279;23229837;24756697;25645385;26758079;31943016;35051231", "class_list": "", "function": "Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder., [RefSeq, PubMed]; Polyserase-I is a human polyprotease with the ability to generate independent serine protease domains from a single translation product, [RefSeq, PubMed]; SNP rs4806846 in TMPRSS9 gene is associated with neuroticism in a European sample., [RefSeq, PubMed]; Serase-1 and serase-2 are serine proteases that hydrolyze the peptides N-t-Boc-Gln-Ala-Arg-AMC and N-t-Boc-Gln-Gly-Arg-AMC. In contrast, N-t-Boc-Ala-Phe-Lys-AMC and N-t-Boc-Ala-Pro-Ala-AMC are not significantly hydrolyzed., [UniProtKB]; The isolation and characterization of serase-1B, a splice variant of polyserase-1, is reported (accession AB109390.1)., [RefSeq, PubMed]; The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016]., [RefSeq]; These effects were mediated by the efficient conversion of pro-uPA to active uPA and high phosphorylation levels of ERK detected in the PANC-1 cells expressing exogenous polyserase-1., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 4, "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": 41, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZND6;Q7Z411", "ec_number_list": "", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0031639 plasminogen activation;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q7Z410-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6I9Y2-1", "uniprot_id": "THOC7_HUMAN", "mass": 23743.0, "length": 204, "protein_name": "THO complex subunit 7", "gene_name": "THOC7", "organism": "Human", "refseq_name": "THO complex subunit 7 isoform 2", "refseq_ac": "NP_001272333", "gene_names_uniprotkb": "THOC7; NIF3L1BP1", "gene_names_refseq": "NIF3L1BP1; THOC7; fSAP24; hTREX30", "protein_names_uniprotkb": "THO complex subunit 7; Functional spliceosome-associated protein 24; NIF3L1-binding protein 1; Ngg1-interacting factor 3-like protein 1-binding protein 1; fSAP24; hTREX30", "protein_names_refseq": "NIF3L1-binding protein 1; Ngg1 interacting factor 3 like 1 binding protein 1; THO complex 7 homolog; THO complex subunit 7 homolog; THO complex subunit 7 isoform 2; functional spliceosome-associated protein 24; ngg1-interacting factor 3-like protein 1-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80145); (R-HSA-159236); (R-HSA-72187)", "pathway_count": 3, "publication_count": 113, "publication_id_list": "10228171;10323864;10489353;10668806;11073998;11237011;11256625;11259411;11259602;11579093;11739738;11756420;11979277;12093754;12871933;12951069;15833825;15998806;16314397;17000901;17190602;17984224;18364396;18411249;18423201;18957205;18974867;18991276;19059247;19608861;19836239;20068231;20129943;20573985;20844015;21872626;21947206;22207203;22424782;22544926;22893130;22928037;23186163;23222130;23299939;23481700;23826332;24244187;24714562;24715725;25418920;25469497;25489052;25576301;25662211;25836925;25892735;26154972;26375851;26728094;26992070;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30524438;30769920;31530632;31844290;31937595;32065701;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33191911;33298915;33392160;33592498;33691108;33717175;33936100;33968037;34087483;34211107;34405274;34509645;35051231;35561310;35580925;36010968;37020021;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 (PubMed:23222130). 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:15833825, PubMed:15998806, PubMed:17190602)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Human THO maintains the stability of repetitive DNA., [RefSeq, PubMed]; THOC7 negatively regulates type I IFN production by promoting TBK1 proteasomal degradation in Sendai virus infection 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": 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": "Q6P1L3;Q8WUF2;Q9H5H0", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0000347 THO complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006397 mRNA processing;GO:0006406 mRNA export from nucleus;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q6I9Y2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y577-1", "uniprot_id": "TRI17_HUMAN", "mass": 54418.0, "length": 477, "protein_name": "E3 ubiquitin-protein ligase TRIM17", "gene_name": "TRIM17", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM17 isoform 1", "refseq_ac": "NP_001020111", "gene_names_uniprotkb": "TRIM17; RBCC; RNF16; TERF", "gene_names_refseq": "RBCC; RNF16; TRIM17; terf", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM17; 2.3.2.27; RING finger protein 16; RING-type E3 ubiquitin transferase TRIM17; Testis RING finger protein; Tripartite motif-containing protein 17", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM17 isoform 1; E3 ubiquitin-protein ligase TRIM17; RING finger protein terf; RING-type E3 ubiquitin transferase TRIM17; ring finger protein 16; testis RING finger protein; tripartite motif-containing protein 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:51127); (R-HSA-877300)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10067896;10986460;11237011;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;17125875;18362138;18591661;19358823;19472918;20049711;20130243;20304997;20363976;22023800;23061660;24417533;27562068;30042493;30379171;30429286;31409898;33239784;35894553;36284347;37219768;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706;9792805", "class_list": "", "function": "Data suggest LSD1 largely plays a tumor suppressor role in luminal breast cancer and the oncogenic program associated with LSD1-inhibition may be suppressed via TRIM37-inhibition, [RefSeq, PubMed]; E3 ubiquitin ligase that plays important roles in the regulation of neuronal apoptosis, selective autophagy or cell proliferation (PubMed:19358823, PubMed:22023800, PubMed:27562068). Stimulates the degradation of kinetochore ZW10 interacting protein ZWINT in a proteasome-dependent manner, leading to negative regulation of cell proliferation (PubMed:22023800). Inhibits autophagic degradation of diverse known targets while contributing to autophagy of midbodies. Autophagy-inhibitory activity involves MCL1, which TRIM17 assembles into complexes with the key autophagy regulator BECN1 (PubMed:27562068). Controls neuronal apoptosis by mediating ubiquitination and degradation of MCL1 to initiate neuronal death. In addition, regulates NFAT transcription factors NFATC3 and NFATC4 activities by preventing their nuclear localization, thus inhibiting their transcriptional activities. Decreases TRIM41-mediated degradation of ZSCAN2 thereby stimulating alpha-synuclein/SNCA transcription in neuronal cells (By similarity). Prevents the E3 ubiquitin-ligase activity of TRIM28 and its interaction with anti-apoptotic BCL2A1, blocking TRIM28 from ubiquitinating BCL2A1 (PubMed:19358823)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; MiR-1246 is responsible for lung cancer cells-derived exosomes-mediated promoting effects on lung cancer stemness via targeting TRIM17., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TRIM17-mediated ubiquitination and degradation of RBM38 promotes cisplatin resistance in non-small cell lung cancer., [RefSeq, PubMed]; Terf interacts with TRIM44;TRIM44 inhibited ubiquitination of terf, and thus stabilized the protein., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein is expressed almost exclusively in the testis, but its function is unknown. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DVJ2;Q5VST8", "ec_number_list": "2.3.2.27;2.7.7.84;1.8.4.-;1.8.-.-;2.3.2.-;3.6.1.-;3.6.5.-;2.7.11.1;2.3.1.-;6.3.2.n3", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0030674 protein-macromolecule adaptor activity;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005764 lysosome", "go_biological_process": "GO:0045087 innate immune response;GO:0032880 regulation of protein localization;GO:0006914 autophagy;GO:0010468 regulation of gene expression;GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9Y577-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GTD5-1", "uniprot_id": "SMI11_HUMAN", "mass": 15631.0, "length": 131, "protein_name": "Sperm microtubule inner protein 11", "gene_name": "SPMIP11", "organism": "Human", "refseq_name": "sperm microtubule inner protein 11 isoform 1", "refseq_ac": "NP_001338052", "gene_names_uniprotkb": "SPMIP11; TEX49", "gene_names_refseq": "LINC00935; SPMIP11; TEX49", "protein_names_uniprotkb": "Sperm microtubule inner protein 11; Testis-expressed protein 49", "protein_names_refseq": "long intergenic non-protein coding RNA 935; sperm microtubule inner protein 11 isoform 1; testis expressed 49; testis-expressed protein 49", "tax_id": 9606, "disease": "", "pathway": " (hsa:255411)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;33912179;35580925", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in flagellum axoneme. May serve to reinforce and thus stabilize the microtubule structure in the sperm flagella., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0036126 sperm flagellum;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A0A1B0GTD5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NLX4-1", "uniprot_id": "TM210_HUMAN", "mass": 15516.0, "length": 147, "protein_name": "Transmembrane protein 210", "gene_name": "TMEM210", "organism": "Human", "refseq_name": "transmembrane protein 210 precursor", "refseq_ac": "NP_001269406", "gene_names_uniprotkb": "TMEM210", "gene_names_refseq": "TMEM210", "protein_names_uniprotkb": "Transmembrane protein 210", "protein_names_refseq": "transmembrane protein 210 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:100505993)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;31429579;32488085;36241641", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0001669 acrosomal vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NLX4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92545-1", "uniprot_id": "TM131_HUMAN", "mass": 205138.0, "length": 1883, "protein_name": "Transmembrane protein 131", "gene_name": "TMEM131", "organism": "Human", "refseq_name": "transmembrane protein 131 precursor", "refseq_ac": "NP_056163", "gene_names_uniprotkb": "TMEM131; KIAA0257; RW1", "gene_names_refseq": "CC28; PRO1048; RW1; TMEM131; YR-23", "protein_names_uniprotkb": "Transmembrane protein 131; Protein RW1", "protein_names_refseq": "2610524E03Rik; transmembrane protein 131 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:23505)", "pathway_count": 1, "publication_count": 102, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16964243;17081983;18669648;19159218;19651622;20068231;23186163;23481700;24190977;24275569;24366607;25418920;25576301;25645385;25880248;26154972;26375851;26811146;26992070;27100087;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29317506;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29741879;29786170;29789417;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32095531;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34561969;34932366;35051231;35154160;35251023;35289036;35561310;35580925;36010968;36241641;36284347;37074911;37217939;37340703;37938771;38665916", "class_list": "", "function": "A statistically significant loss of methylation at CpG dinucleotide sites within the non-syntenic TMEM131 gene is observed in individuals with free trisomy 21 (Down syndrome) compared with control disomic samples. The loss is independent of the maternal or the paternal origin of the chromosome 21 nondisjunction event. Publication Status: Online-Only, [RefSeq, PubMed]; Collagen binding transmembrane protein involved in collagen secretion by recruiting the ER-to-Golgi transport complex TRAPPIII (PubMed:32095531). May play a role in the immune response to viral infection., [UniProtKB, 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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "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": 1, "reported_phosphosites": 13, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0005518 collagen binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0032964 collagen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q92545-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NXR4-1", "uniprot_id": "TTI2_HUMAN", "mass": 56915.0, "length": 508, "protein_name": "TELO2-interacting protein 2", "gene_name": "TTI2", "organism": "Human", "refseq_name": "TELO2-interacting protein 2 isoform 1", "refseq_ac": "NP_001095871", "gene_names_uniprotkb": "TTI2; C8orf41", "gene_names_refseq": "C8orf41; MRT39; TTI2", "protein_names_uniprotkb": "TELO2-interacting protein 2", "protein_names_refseq": "TELO2-interacting protein 2 isoform 1; Tel2 interacting protein 2 homolog", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 39 (Disease Ontology:DOID:0081204)", "pathway": " (hsa:80185)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;20801936;20810650;22424782;23956177;24714562;25576301;25645385;25802875;26154972;26812014;26992070;27846572;28228285;28510447;28832583;28834231;29242379;29557506;29769354;29786170;30315122;30429286;31154438;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34185709;34211107;34509645;34838521;35051231;35561310;35580925;36010968;37938771", "class_list": "", "function": "Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs., [UniProtKB, PubMed, PubMed]; Structure of the Human TELO2-TTI1-TTI2 Complex., [RefSeq, PubMed]; TTI1 and TTI2 protect cells from spontaneous DNA damage, and are required for the establishment of the intra-S and G2/M checkpoint., [RefSeq, PubMed]; The findings emphasises the role of the TTI2 gene in the etiology of intellectual disability., [RefSeq, PubMed]; This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [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": 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": "D3DSV7;Q96IM2;Q9H5N4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0110078 TTT Hsp90 cochaperone complex", "go_biological_process": "GO:0050821 protein stabilization;GO:2000003 positive regulation of DNA damage checkpoint", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q6NXR4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P41732-1", "uniprot_id": "TSN7_HUMAN", "mass": 27574.0, "length": 249, "protein_name": "Tetraspanin-7", "gene_name": "TSPAN7", "organism": "Human", "refseq_name": "tetraspanin-7", "refseq_ac": "NP_004606", "gene_names_uniprotkb": "TSPAN7; A15; DXS1692E; MXS1; TM4SF2", "gene_names_refseq": "A15; CCG-B7; CD231; DXS1692E; MRX58; MXS1; TALLA-1; TM4SF2b; TM4SF2; TSPAN7; XLID58", "protein_names_uniprotkb": "Tetraspanin-7; Cell surface glycoprotein A15; Membrane component chromosome X surface marker 1; T-cell acute lymphoblastic leukemia-associated antigen 1; TALLA-1; Transmembrane 4 superfamily member 2; Tspan-7", "protein_names_refseq": "CD231 antigen; T-cell acute lymphoblastic leukemia associated antigen 1; cell surface glycoprotein A15; membrane component chromosome X surface marker 1; membrane component, X chromosome, surface marker 1; tetraspanin protein; tetraspanin-7; transmembrane 4 superfamily 2b; transmembrane 4 superfamily member 2; transmembrane protein A15; tspan-7", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability 58 (Disease Ontology:DOID:0112024); neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:7102); (R-HSA-202733); (R-HSA-416993)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10606205;10655063;10764623;11207550;11237011;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12782713;14529530;14615387;15000751;15528364;15681301;15721307;1591491;16055064;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17555819;17563375;17580308;17600130;17615384;17625065;19279206;20630051;21193412;21659548;23945545;24043627;24764293;2538457;25576301;29557506;31154438;31844290;31848261;32314012;32468130;32488085;35051231;35580925;36264270;39031113;39175035;468991;7509040;7521878;7768645;8163559;8166770;8314844;8420826;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "Autoimmunity to tetraspanin-7 in type 1 diabetes. Review article, [RefSeq, PubMed]; Loss of tetraspanin-7 expression reduces pancreatic beta-cell exocytosis Ca[2+] sensitivity but has limited effect on systemic metabolism., [RefSeq, PubMed]; May be involved in cell proliferation and cell motility., [UniProtKB]; New insights into the role of tetraspanin 6, 7, and 8 in physiology and pathology. Review article, [RefSeq, PubMed]; Tetraspanin 7 and its closest paralog tetraspanin 6: membrane organizers with key functions in brain development, viral infection, innate immunity, diabetes and cancer. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked cognitive disability and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. [provided by RefSeq, Jul 2008]., [RefSeq]; Unveiling the unique role of TSPAN7 across tumors: a pan-cancer study incorporating retrospective clinical research and bioinformatic analysis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2R5W7;D3DWB1;Q8WVG5;Q9UEY9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "P41732-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q4G0F5-1", "uniprot_id": "VP26B_HUMAN", "mass": 39155.0, "length": 336, "protein_name": "Vacuolar protein sorting-associated protein 26B", "gene_name": "VPS26B", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 26B", "refseq_ac": "NP_443107", "gene_names_uniprotkb": "VPS26B", "gene_names_refseq": "Pep8b; VPS26B", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 26B; Vesicle protein sorting 26B", "protein_names_refseq": "vacuolar protein sorting-associated protein 26B; vesicle protein sorting 26B", "tax_id": 9606, "disease": "brain cancer (Disease Ontology:DOID:1319)", "pathway": " (hsa:112936)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;17525332;18669648;19413330;19690332;20068231;20166139;21406692;21920005;23186163;23301498;23481700;24275569;25576301;26113136;26375851;26811146;26992070;28063628;28228285;28832583;29242379;29393594;29493099;29508533;29557506;29632046;30429286;30524438;31154438;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33043033;33123756;33592498;33968037;33981976;34087483;34932366;35051231;35132862;35251023;35580925;36010968;36284347;37938771", "class_list": "", "function": "Acts as a component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5. May be involved in retrograde transport of SORT1 but not of IGF2R. Acts redundantly with VSP26A in SNX-27 mediated endocytic recycling of SLC2A1/GLUT1 (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Authors propose that PAR-2 plasma membrane repopulation is regulated by Vps26B-retromer, describing a potential novel role for this complex., [RefSeq, PubMed]; Colocalization of Vps26 paralogues with different endosomally located Rab proteins shows prolonged association of Vps26B-retromer with maturing endosomes relative to Vps26A-retromer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96A55", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098837 postsynaptic recycling endosome;GO:0030906 retromer, cargo-selective complex;GO:0005768 endosome;GO:0005769 early endosome", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016241 regulation of macroautophagy;GO:0042147 retrograde transport, endosome to Golgi;GO:0032456 endocytic recycling;GO:0098696 regulation of neurotransmitter receptor localization to postsynaptic specialization membrane", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q4G0F5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53HI1-1", "uniprot_id": "UNC50_HUMAN", "mass": 30373.0, "length": 259, "protein_name": "Protein unc-50 homolog", "gene_name": "UNC50", "organism": "Human", "refseq_name": "protein unc-50 homolog isoform 3", "refseq_ac": "NP_054763", "gene_names_uniprotkb": "UNC50; HSD-23; HSD23; UNCL", "gene_names_refseq": "GMH1; HSD23; PDLs22; UNC50; UNCL; URP", "protein_names_uniprotkb": "Protein unc-50 homolog; PDLs22; Periodontal ligament-specific protein 22; Protein GMH1 homolog; Uncoordinated-like protein; hGMH1", "protein_names_refseq": "geal-6 membrane-associated high-copy suppressor 1; periodontal ligament-specific protein 22; protein GMH1 homolog; protein unc-50 homolog isoform 3; protein unc-50 homolog; unc-50 related; unc-50-like protein; uncoordinated-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:25972)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10980252;11230166;11237011;11302735;12808035;17004066;22544926;23186163;23481700;24397554;24715725;25576301;25645385;25732826;25738771;26811146;27920218;28514659;28883040;28904123;29016857;29242379;29393594;29557506;30315122;31217245;31844290;31848261;32161166;32357974;32387766;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;34357683;34509645;34561969;34932366;35051231;35580925;36010968", "class_list": "", "function": "Data indicate that biallelic mutation in the UNC50 gene underlies AMC through a probable loss of AChR expression at the neuromuscular junction which is essential for the cholinergic transmission during human muscle development., [RefSeq, PubMed]; Depletion of UNC50 blocked early endosome-to-Golgi trafficking and induced lysosomal degradation of STx2. UNC50 acted by recruiting GBF1, an ADP ribosylation factor-guanine nucleotide exchange factor (ARF-GEF), to the Golgi., [RefSeq, PubMed]; Involved in the cell surface expression of neuronal nicotinic receptors (By similarity). Binds RNA (By similarity)., [UniProtKB, UniProtKB]; Involved in the cell surface expression of neuronal nicotinic receptors. Binds RNA., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; UNC50 may plays some roles in HCC progression by affecting the EGFR pathway Publication Status: Online-Only, [RefSeq, PubMed]; UNCL plays important roles in the development, differentiation, and maintenance of periodontal tissues and in the mechanotransduction of periodontal ligament fibroblasts., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "D3DVH4;Q53S98;Q53TD6;Q5U5U2;Q6X7B9;Q9UQF4;Q9Y4S6", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005637 nuclear inner membrane", "go_biological_process": "GO:0034394 protein localization to cell surface", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q53HI1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UWM9-1", "uniprot_id": "UD2A3_HUMAN", "mass": 60254.0, "length": 527, "protein_name": "UDP-glucuronosyltransferase 2A3", "gene_name": "UGT2A3", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 2A3 precursor", "refseq_ac": "NP_079019", "gene_names_uniprotkb": "UGT2A3; PRO6239", "gene_names_refseq": "UGT2A3", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 2A3; 2.4.1.17; UDPGT 2A3", "protein_names_refseq": "UDP glucuronosyltransferase 2 family, polypeptide A3; UDP-glucuronosyltransferase 2A3 precursor; UDP-glucuronosyltransferase 2A3; UDPGT 2A3", "tax_id": 9606, "disease": "", "pathway": " (hsa:79799); (R-HSA-156588); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10220572;10434065;11237011;11581266;12433823;12616642;12975309;1339448;13741103;14570768;15135306;16258079;16837570;16858120;16943252;17482904;1783992;18052085;18523138;19545173;19836360;19858781;20819778;22294686;22674043;25840124;27556486;28677105;29557506;30379171;3082969;3342084;35580925;3705620;37074911;4639028;5013373;5773090;5862532;6654901;6777177;6796486;6838677;7206363;7802672;8027054;8687483;9144407;931988;975718", "class_list": "glycogene;glycosyltransferase", "function": "Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; 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]; This is the first report establishing UGT2A3 as a functional enzyme. GeneRIF: Describes initial cloning, expression and functional characterization of UGT2A3. Shows mRNA expression primarily in liver and intestines; and selective glucuronidation of bile acids, particularly hyodeoxycholic acid., [RefSeq, PubMed]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions by conjugating glucuronic acid to lipophilic substrates, thereby increasing their water solubility and facilitating excretion. Catalyzes the glucuronidation of the bile acids hyodeoxycholic acid, deoxycholic acid, chenodeoxycholic acid, and ursodeoxycholic acid., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 905, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 19, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q9H6S4", "ec_number_list": "2.4.1.17;2.4.1.170;2.4.1.185", "go_molecular_function": "GO:0015020 glucuronosyltransferase activity;GO:0008194 UDP-glycosyltransferase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q6UWM9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N6G2-1", "uniprot_id": "TEX26_HUMAN", "mass": 33595.0, "length": 289, "protein_name": "Testis-expressed protein 26", "gene_name": "TEX26", "organism": "Human", "refseq_name": "testis-expressed protein 26 isoform a", "refseq_ac": "NP_689538", "gene_names_uniprotkb": "TEX26; C13orf26", "gene_names_refseq": "C13orf26; TEX26", "protein_names_uniprotkb": "Testis-expressed protein 26", "protein_names_refseq": "testis-expressed protein 26 isoform a; testis-expressed protein 26; testis-expressed sequence 26 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:122046)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;32488085;38253038;38538594", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8N6G2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N8G2-1", "uniprot_id": "VGLL2_HUMAN", "mass": 33426.0, "length": 317, "protein_name": "Transcription cofactor vestigial-like protein 2", "gene_name": "VGLL2", "organism": "Human", "refseq_name": "transcription cofactor vestigial-like protein 2 isoform 2", "refseq_ac": "NP_703154", "gene_names_uniprotkb": "VGLL2; VITO1", "gene_names_refseq": "VGL2; VGLL2; VITO1", "protein_names_uniprotkb": "Transcription cofactor vestigial-like protein 2; Protein VITO1; Vgl-2", "protein_names_refseq": "Vestigial and Tondu related protein 1; contains TEF-1 interaction domain; functional cofactor of TEF-1; related to Homo sapiens TONDU encoded by GenBank Accession Number AF137387 and to sequences with GenBank Accession Numbers Z98880 and AA586760; transcription cofactor vestigial-like protein 2 isoform 2; transcription cofactor vestigial-like protein 2; vestigial like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:245806)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "12376544;14516696;14762206;26501226;31154438;31844290;33060790;35580925;36656711", "class_list": "", "function": "A new perspective on the interaction between the Vg/VGLL1-3 proteins and the TEAD transcription factors. Publication Status: Online-Only, [RefSeq, PubMed]; Identify novel and recurrent VGLL2-related fusions in pediatric spindle and sclerosing rhabdomyosarcomas., [RefSeq, PubMed]; May act as a specific coactivator for the mammalian TEFs. May play a role in the development of skeletal muscles., [UniProtKB]; Role in promoting skeletal muscle differention, [RefSeq, PubMed]; This gene encodes a protein with a transcriptional enhancer factor 1 (TEF-1) interaction domain. The encoded protein may act as a co-factor of TEF-1 regulated gene expression during skeletal muscle development. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]., [RefSeq]; VGLL2-NCOA2 leverages developmental programs for pediatric sarcomagenesis., [RefSeq, PubMed]; VITO-1 is a crucial new cofactor of the muscle regulatory programme 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": "Q8WWX1", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity", "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", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8N8G2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MXK1-1", "uniprot_id": "VSTM5_HUMAN", "mass": 22377.0, "length": 200, "protein_name": "V-set and transmembrane domain-containing protein 5", "gene_name": "VSTM5", "organism": "Human", "refseq_name": "V-set and transmembrane domain-containing protein 5 precursor", "refseq_ac": "NP_001138343", "gene_names_uniprotkb": "VSTM5; C11orf90", "gene_names_refseq": "C11orf90; VSTM5", "protein_names_uniprotkb": "V-set and transmembrane domain-containing protein 5", "protein_names_refseq": "V-set and transmembrane domain-containing protein 5 precursor; V-set and transmembrane domain-containing protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:387804)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;25892735;29769354;31844290;35580925", "class_list": "", "function": "Cell adhesion-like membrane protein of the central nervous system (CNS) which modulates both the position and complexity of central neurons by altering their membrane morphology and dynamics. Involved in the formation of neuronal dendrites and protrusions including dendritic filopodia. In synaptogenesis, regulates synapse formation by altering dendritic spine morphology and actin distribution. Promotes formation of unstable neuronal spines such as thin and branched types. Regulates neuronal morphogenesis and migration during cortical development in the brain., [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": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0006955 immune response;GO:0046847 filopodium assembly;GO:0051260 protein homooligomerization;GO:0021517 ventral spinal cord development;GO:1904891 positive regulation of excitatory synapse assembly", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A8MXK1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ICI0-1", "uniprot_id": "LHPL7_HUMAN", "mass": 21740.0, "length": 200, "protein_name": "LHFPL tetraspan subfamily member 7 protein", "gene_name": "LHFPL7", "organism": "Human", "refseq_name": "LHFPL tetraspan subfamily member 7 protein isoform 1", "refseq_ac": "NP_001001663", "gene_names_uniprotkb": "LHFPL7; TMEM211", "gene_names_refseq": "LHFPL7; TMEM211; bA9F11.1", "protein_names_uniprotkb": "LHFPL tetraspan subfamily member 7 protein; Transmembrane protein 211", "protein_names_refseq": "LHFPL tetraspan subfamily member 7 protein isoform 1; LHFPL tetraspan subfamily member 7 protein; transmembrane protein 211", "tax_id": 9606, "disease": "", "pathway": " (hsa:255349)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;18477386;31154438;33091337;35494241", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6ICI0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6Q6-1", "uniprot_id": "TNR11_HUMAN", "mass": 66034.0, "length": 616, "protein_name": "Tumor necrosis factor receptor superfamily member 11A", "gene_name": "TNFRSF11A", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 11A isoform 2 precursor", "refseq_ac": "NP_001257878", "gene_names_uniprotkb": "TNFRSF11A; RANK", "gene_names_refseq": "CD265; FEO; LOH18CR1; ODFR; OFE; OPTB7; OSTS; PDB2; RANK; TNFRSF11A; TRANCE-R; TRANCER", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 11A; ODFR; Osteoclast differentiation factor receptor; Receptor activator of NF-KB", "protein_names_refseq": "Paget disease of bone 2; TRANCE receptor; familial expansile osteolysis; loss of heterozygosity, 18, chromosomal region 1; osteoclast differentiation factor receptor; receptor activator of NF-KB; receptor activator of nuclear factor-kappa B; tumor necrosis factor receptor superfamily member 11A isoform 2 precursor; tumor necrosis factor receptor superfamily member 11a; tumor necrosis factor receptor superfamily, member 11a, NFKB activator", "tax_id": 9606, "disease": "bone development disease (Disease Ontology:DOID:0080006); Paget's disease of bone 2 (Disease Ontology:DOID:0081365); autosomal recessive osteopetrosis 7 (Disease Ontology:DOID:0110946); familial expansile osteolysis (Disease Ontology:DOID:0111542); stomach cancer (Disease Ontology:DOID:10534); osteoporosis (Disease Ontology:DOID:11476); Paget's disease of bone (Disease Ontology:DOID:5408); myocarditis (Disease Ontology:DOID:820)", "pathway": " (hsa:8792); (R-HSA-5668541); (R-HSA-5676594)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "10.1101/2023.09.13.557529;10085077;10359578;10615125;10797013;11728344;11853672;12374738;12529173;12571250;12721620;12787562;15084608;15368291;15585864;15644327;15750601;15824857;17636564;18606301;18635759;18669648;18997792;18997794;19241374;19426221;19815541;20385556;20483727;21081755;21091114;23090970;23186163;23478294;23664977;23667509;24190977;24248355;24298274;24432023;25152365;25502872;26154972;27846572;28832583;29242379;29557506;30429286;31844290;32938616;33141586;34932366;35051231;35580925;36589815;38230588;39003954;39198400;39894887;7544915;7639698;8521496;8663299;8702708;9122217;9247583;9367155;9718306;9774460;9852070;9878548", "class_list": "", "function": "B-cell intrinsic RANK signaling cooperates with TCL1 to induce lineage-dependent B-cell transformation. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated tissue expression of RANKL and RANK is associated with poorer survival rates in pancreatic cancer patients., [RefSeq, PubMed]; Osteoclast-poor osteopetrosis with agammaglobulinemia due to TNFRSF11A (RANK) mutation is reported., [RefSeq, PubMed]; Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis (PubMed:9878548). Its interaction with EEIG1 promotes osteoclastogenesis via facilitating the transcription of NFATC1 and activation of PLCG2 (By similarity). Involved in the regulation of interactions between T-cells and dendritic cells (By similarity)., [UniProtKB, PubMed, UniProtKB]; TNFRSF11A variants contribute to systemic autoinflammatory diseases: A case series of 12 patients., [RefSeq, PubMed]; The RANK/RANKL/OPG system and tumor bone metastasis: Potential mechanisms and therapeutic strategies. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 8, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "I4EC36;I4EC38;I4EC39;I7JE63;N0GVH0;Q59EP9", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0046872 metal ion binding;GO:0005031 tumor necrosis factor receptor activity;GO:0019955 cytokine binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0060086 circadian temperature homeostasis;GO:0071812 positive regulation of fever generation by positive regulation of prostaglandin secretion;GO:0007165 signal transduction;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9Y6Q6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQZ8-1", "uniprot_id": "ZNF71_HUMAN", "mass": 54498.0, "length": 489, "protein_name": "Endothelial zinc finger protein induced by tumor necrosis factor alpha", "gene_name": "ZNF71", "organism": "Human", "refseq_name": "endothelial zinc finger protein induced by tumor necrosis factor alpha isoform 1", "refseq_ac": "NP_067039", "gene_names_uniprotkb": "ZNF71; EZFIT", "gene_names_refseq": "EZFIT; ZNF71", "protein_names_uniprotkb": "Endothelial zinc finger protein induced by tumor necrosis factor alpha; Zinc finger protein 71", "protein_names_refseq": "Kruppel-related zinc finger protein; endothelial zinc finger protein induced by tumor necrosis factor alpha isoform 1; endothelial zinc finger protein induced by tumor necrosis factor alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:58491); (R-HSA-212436)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10235266;10330177;11237011;11395415;11426589;14519192;1505991;15175151;15896744;1639391;16606702;16719718;2163759;26992070;28832583;29242379;31154438;32157095;32357974;32938616;33592498;33916522;34185709;35318648;36010968;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Molecular Analysis of ZNF71 KRAB in Non-Small-Cell 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q15919;Q9UC09;Q9UQD3", "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_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": "Q9NQZ8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NXG2-1", "uniprot_id": "THUM1_HUMAN", "mass": 39315.0, "length": 353, "protein_name": "THUMP domain-containing protein 1", "gene_name": "THUMPD1", "organism": "Human", "refseq_name": "THUMP domain-containing protein 1", "refseq_ac": "NP_001291479", "gene_names_uniprotkb": "THUMPD1", "gene_names_refseq": "NEDSOA; THUMPD1; Tan1", "protein_names_uniprotkb": "THUMP domain-containing protein 1", "protein_names_refseq": "THUMP domain containing 1; THUMP domain-containing protein 1", "tax_id": 9606, "disease": "neurodevelopmental disorder with speech delay and variable ocular anomalies (MONDO:MONDO:0859272)", "pathway": " (hsa:55623); (R-HSA-6790901)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10606270;11081632;11237011;11935223;11978965;12417735;15199136;16381836;16782898;17081983;17287340;17322306;17636026;18318008;18452278;18669648;18707149;18767875;19033376;19367720;19413330;19415658;19463982;19651622;19664994;19690332;20047967;20068231;20166139;20230923;23186163;23301498;23391857;23783831;24086612;24275569;25411247;25525153;25653167;25851604;26085946;26196125;27084949;28076326;28228285;28510447;28832583;29351928;29508533;29557506;30237576;30429286;30833945;31154438;31844290;31848261;32157095;32488085;33717175;33912179;34019948;34087483;34171305;34762107;34932366;35051231;35196516;35580925;36284347;37217939;40596516;40914422;9211966;9512526", "class_list": "", "function": "Functions as a tRNA-binding adapter to mediate NAT10-dependent tRNA acetylation modifying cytidine to N4-acetylcytidine (ac4C) (PubMed:25653167, PubMed:35196516)., [UniProtKB, PubMed, PubMed]; Pan-cancer analysis of N4-acetylcytidine adaptor THUMPD1 as a predictor for prognosis and immunotherapy., [RefSeq, PubMed]; THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder., [RefSeq, PubMed]; These results indicate that THUMPD1 promotes breast cancer cells invasion and migration via the AKT-GSK3beta-Snail 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": 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": 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": "Q9BWC3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0006400 tRNA modification", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9NXG2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NML5-1", "uniprot_id": "TM212_HUMAN", "mass": 21425.0, "length": 194, "protein_name": "Transmembrane protein 212", "gene_name": "TMEM212", "organism": "Human", "refseq_name": "transmembrane protein 212", "refseq_ac": "NP_001157908", "gene_names_uniprotkb": "TMEM212", "gene_names_refseq": "TMEM212", "protein_names_uniprotkb": "Transmembrane protein 212", "protein_names_refseq": "transmembrane protein 212", "tax_id": 9606, "disease": "", "pathway": " (hsa:389177)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;22828495", "class_list": "", "function": "The specialized function of this brain region suggests that TMEM212 could contribute to the innate architecture of face processing. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 0.3, "record_id": "A6NML5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P02585-1", "uniprot_id": "TNNC2_HUMAN", "mass": 18122.0, "length": 160, "protein_name": "Troponin C, skeletal muscle", "gene_name": "TNNC2", "organism": "Human", "refseq_name": "troponin C, skeletal muscle", "refseq_ac": "NP_003270", "gene_names_uniprotkb": "TNNC2", "gene_names_refseq": "CFAP85; CMYO15; CMYP15; FAP85; MYONRI; TNNC2", "protein_names_uniprotkb": "Troponin C, skeletal muscle", "protein_names_refseq": "troponin C type 2 (fast); troponin C, skeletal muscle", "tax_id": 9606, "disease": "congenital myopathy 15 (Disease Ontology:DOID:0081347)", "pathway": " (hsa:7125); (R-HSA-390522)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "10747208;11237011;2373703;29393594;29557506;29789417;31324732;3166492;33052895;33755597;35580925;978749", "class_list": "", "function": "A Mechanism Underlying Sex-Associated Differences in Ankylosing Spondylitis: Troponin C2, Fast Skeletal Type (TNNC2) and Calcium Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium., [RefSeq, PubMed]; Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq, Jul 2008]., [RefSeq]; Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "Q6FH92", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005861 troponin complex", "go_biological_process": "GO:0003009 skeletal muscle contraction;GO:0006937 regulation of muscle contraction", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "P02585-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96DX7-1", "uniprot_id": "TRI44_HUMAN", "mass": 38472.0, "length": 344, "protein_name": "Tripartite motif-containing protein 44", "gene_name": "TRIM44", "organism": "Human", "refseq_name": "tripartite motif-containing protein 44", "refseq_ac": "NP_060053", "gene_names_uniprotkb": "TRIM44; DIPB", "gene_names_refseq": "AN3; DIPB; HSA249128; MC7; TRIM44", "protein_names_uniprotkb": "Tripartite motif-containing protein 44; Protein DIPB", "protein_names_refseq": "tripartite motif-containing protein 44", "tax_id": 9606, "disease": "aniridia (Disease Ontology:DOID:12271); aniridia 3 (MONDO:MONDO:0014938)", "pathway": " (hsa:54765)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "16964243;19358823;19651622;22898188;23481700;24714562;24715725;25576301;25645385;26375851;26394807;26768311;27600516;27862975;28228285;28649982;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30524438;31154438;31217245;31530632;31844290;31848261;32161166;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;35051231;35580925;35633558;36010968;36215666;36241641;36512309;37070216;37938771;38691326;39152142", "class_list": "", "function": "Clinical Significance of TRIM44 Expression in Patients with Gastric Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression (PubMed:26394807)., [UniProtKB, PubMed, PubMed]; Overexpression of TRIM44 mediates the NF-kappaB pathway to promote the progression of ovarian cancer., [RefSeq, PubMed]; Silencing LINC00491 inhibits prostate cancer development through the miR-384/TRIM44 axis., [RefSeq, PubMed]; TRIM44 enhances autophagy via SQSTM1 oligomerization in response to oxidative stress. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM44 regulates tumor immunity in gastric cancer through LOXL2-dependent extracellular matrix remodeling., [RefSeq, PubMed]; This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DR14;Q96QY2;Q9UGK0", "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:0001961 positive regulation of cytokine-mediated signaling pathway;GO:0045087 innate immune response;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0045893 positive regulation of DNA-templated transcription;GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q96DX7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPU5-1", "uniprot_id": "UBP24_HUMAN", "mass": 294365.0, "length": 2620, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 24", "gene_name": "USP24", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 24", "refseq_ac": "NP_056121", "gene_names_uniprotkb": "USP24; KIAA1057", "gene_names_refseq": "USP24", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 24; 3.4.19.12; Deubiquitinating enzyme 24; Ubiquitin thioesterase 24; Ubiquitin-specific-processing protease 24", "protein_names_refseq": "deubiquitinating enzyme 24; ubiquitin carboxyl-terminal hydrolase 24; ubiquitin specific protease 24; ubiquitin thioesterase 24; ubiquitin thiolesterase 24; ubiquitin-specific processing protease 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:23358); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 163, "publication_id_list": "10.1101/2023.09.13.557529;10444327;10982817;11237011;11566882;11923872;12917689;12917691;14661020;15053880;15144186;15916963;16214042;16901786;16917932;16964243;16964248;17081983;17290220;17322306;17443180;17525332;17873522;17980597;17981138;18088087;18172164;18220336;18467330;18632802;18636086;18669648;18691976;18707149;18767875;19007248;19015242;19135894;19188362;19363159;19369195;19398555;19413330;19415658;19424180;19651622;19664994;19664995;19690332;19838211;19874889;19910467;20058876;20068231;20096447;20166139;20228808;20368735;20501646;21239494;21362556;21406692;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;22424782;22706990;23159851;23186163;23301498;23395819;23481700;23486064;23824326;23825189;24056413;24260525;24275569;24493797;24714562;24896179;25197364;25305019;25418920;25576301;25578727;25892735;26154972;26375851;26728094;26811146;26992070;27600516;27846572;27862975;27920218;27991932;28218747;28228285;28510447;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29695420;29769354;29786170;30315122;30410026;30429286;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33257797;33298915;33355202;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34326684;34357683;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36581221;37187452;37938771;38253038;39127151;7578059", "class_list": "", "function": "Data suggest that genetic variants in USP24 affect the risk for late-onset Parkinson disease (PD), which is consistent with the predicted role of the ubiquitination pathway in PD etiology. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; MiR-21-5p promotes sorafenib resistance and hepatocellular carcinoma progression by regulating SIRT7 ubiquitination through USP24., [RefSeq, PubMed]; Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]., [RefSeq]; USP24 Is a Cancer-Associated Ubiquitin Hydrolase, Novel Tumor Suppressor, and Chromosome Instability Gene Deleted in Neuroblastoma., [RefSeq, PubMed]; USP24 promotes hepatocellular carcinoma tumorigenesis through deubiquitinating and stabilizing TRAF2., [RefSeq, PubMed]; USP24 stabilizes bromodomain containing proteins to promote lung cancer malignancy. Publication Status: Online-Only, [RefSeq, PubMed]; USP24-GSDMB complex promotes bladder cancer proliferation via activation of the STAT3 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin-specific protease that regulates cell survival in various contexts through modulating the protein stability of some of its substrates including DDB2, MCL1 or TP53. Plays a positive role on ferritinophagy where ferritin is degraded in lysosomes and releases free iron., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 27, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "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": "Q6ZSY2;Q8N2Y4;Q9NXD1", "ec_number_list": "3.4.19.12", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "Q9UPU5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P32971-1", "uniprot_id": "TNFL8_HUMAN", "mass": 26017.0, "length": 234, "protein_name": "Tumor necrosis factor ligand superfamily member 8", "gene_name": "TNFSF8", "organism": "Human", "refseq_name": "tumor necrosis factor ligand superfamily member 8 isoform 1", "refseq_ac": "NP_001235", "gene_names_uniprotkb": "TNFSF8; CD30LG; CD30L", "gene_names_refseq": "CD153; CD30LG; CD30L; TNFSF8; TNLG3A", "protein_names_uniprotkb": "Tumor necrosis factor ligand superfamily member 8; CD30 ligand; CD30-L", "protein_names_refseq": "CD153 antigen; CD30 antigen ligand; CD30 ligand; CD30-L; tumor necrosis factor (ligand) superfamily, member 8; tumor necrosis factor ligand 3A; tumor necrosis factor ligand superfamily member 8 isoform 1; tumor necrosis factor superfamily member 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:944); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10074428;10359578;10398604;10484778;10597252;10615125;11237011;11571266;11882293;11911831;12189164;12949498;14656435;15356117;15470070;16501042;1655907;17632511;18571443;18606301;20032458;20222921;20307208;20510730;20979233;21300286;22197273;22664871;22801960;23481700;24070496;24190977;29557506;30202016;32424156;32983136;35051231;36301368;7913952;8120384;8391931;8871664;9349718;9878548", "class_list": "", "function": "Cytokine that binds to TNFRSF8/CD30. Induces proliferation of T-cells., [UniProtKB]; Polyfunctional CD153-expressing CD4 T cells are increased in latent Mycobacterium tuberculosis infection compared to active Tuberculosis., [RefSeq, PubMed]; Several genetic variants associated with systemic sclerosis in a Chinese Han population., [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 TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]., [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": 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": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O43404", "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:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0043374 CD8-positive, alpha-beta T cell differentiation;GO:0006955 immune response;GO:0007267 cell-cell signaling;GO:0042129 regulation of T cell proliferation", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "P32971-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYT8-1", "uniprot_id": "ULK2_HUMAN", "mass": 112694.0, "length": 1036, "protein_name": "Serine/threonine-protein kinase ULK2", "gene_name": "ULK2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase ULK2", "refseq_ac": "NP_001136082", "gene_names_uniprotkb": "ULK2; KIAA0623", "gene_names_refseq": "ATG1B; ULK2; Unc51.2", "protein_names_uniprotkb": "Serine/threonine-protein kinase ULK2; 2.7.11.1; Unc-51-like kinase 2", "protein_names_refseq": "serine/threonine-protein kinase ULK2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9706)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;12471243;17344846;18936157;21205641;21460634;21460635;21690395;21795849;24715725;25645385;25880248;26052940;28514659;28657654;28832583;29242379;29393594;30429286;30779550;31530632;31848261;32157095;32357974;32488085;32938616;33298915;33592498;34171305;34933019;35051231;35119028;36010968;36284347;37846507;38203816;39213022", "class_list": "", "function": "An ULK1/2-PXN mechanotransduction pathway suppresses breast cancer cell migration., [RefSeq, PubMed]; Association between Unc-51-like autophagy activating kinase 2 gene polymorphisms and schizophrenia in the Korean population., [RefSeq, PubMed]; CircARHGAP12 Triggers Mesenchymal Stromal Cell Autophagy to Facilitate its Effect on Repairing Diabetic Wounds by Sponging miR-301b-3p/ATG16L1 and miR-301b-3p/ULK2., [RefSeq, PubMed]; First identification and naming of ULK2 as an ortholog of mouse ULK2. Review article, [RefSeq, PubMed]; Inhibition of ULK1/2 and KRAS[G12C] controls tumor growth in preclinical models of lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3-kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and a negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK, also acts as a negative regulator of AMPK through phosphorylation of the AMPK subunits PRKAA1, PRKAB2 and PRKAG1. May phosphorylate ATG13/KIAA0652, FRS2, FRS3 and RPTOR; however such data need additional evidences. Not involved in ammonia-induced autophagy or in autophagic response of cerebellar granule neurons (CGN) to low potassium concentration. Plays a role early in neuronal differentiation and is required for granule cell axon formation: may govern axon formation via Ras-like GTPase signaling and through regulation of the Rab5-mediated endocytic pathways within developing axons., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008]., [RefSeq]; ULK2 Is a Key Pro-Autophagy Protein That Contributes to the High Chemoresistance and Disease Relapse in FLT3-Mutated Acute Myeloid Leukemia. 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": 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": "A8MY69;O75119", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "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:0030659 cytoplasmic vesicle membrane;GO:0005776 autophagosome;GO:0034045 phagophore assembly site membrane", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0007165 signal transduction;GO:0010506 regulation of autophagy;GO:0042594 response to starvation;GO:0046777 protein autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q8IYT8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00300-1", "uniprot_id": "TR11B_HUMAN", "mass": 46026.0, "length": 401, "protein_name": "Tumor necrosis factor receptor superfamily member 11B", "gene_name": "TNFRSF11B", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 11B precursor", "refseq_ac": "NP_002537", "gene_names_uniprotkb": "TNFRSF11B; OCIF; OPG", "gene_names_refseq": "OCIF; OPG; PDB5; TNFRSF11B; TR1", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 11B; Osteoclastogenesis inhibitory factor; Osteoprotegerin", "protein_names_refseq": "osteoclastogenesis inhibitory factor; osteoprotegerin; tumor necrosis factor receptor superfamily member 11B precursor; tumor necrosis factor receptor superfamily member 11B; tumor necrosis factor receptor superfamily, member 11b", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); lupus nephritis (Disease Ontology:DOID:0080162); Paget's disease of bone 5 (Disease Ontology:DOID:0081368); hereditary arterial and articular multiple calcification syndrome (Disease Ontology:DOID:0111582); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); hypertension (Disease Ontology:DOID:10763); osteoporosis (Disease Ontology:DOID:11476); nephrotic syndrome (Disease Ontology:DOID:1184); secondary hyperparathyroidism (Disease Ontology:DOID:12466); aortic valve stenosis (Disease Ontology:DOID:1712); bipolar disorder (Disease Ontology:DOID:3312); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); peripheral vascular disease (Disease Ontology:DOID:341); cerebral infarction (Disease Ontology:DOID:3526); coronary stenosis (Disease Ontology:DOID:4248); Paget's disease of bone (Disease Ontology:DOID:5408); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); end stage renal disease (Disease Ontology:DOID:783); myocarditis (Disease Ontology:DOID:820); periapical periodontitis (Disease Ontology:DOID:823); osteoarthritis (Disease Ontology:DOID:8398); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:4982); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10074428;10359578;10398604;10484778;10597252;10615125;11237011;11505389;11571266;11882293;11911831;12110935;12189164;12949498;14656435;15340161;15356117;15470070;16491292;16501042;1655907;17632511;18571443;18606301;20032458;20112406;20222921;20307208;20510730;20979233;21300286;22197273;22664871;22801960;23090970;24070496;24190977;28467828;29242379;30348163;31844290;32125861;35051231;35580925;37074911;38097649;38374135;38443806;38583439;38665916;38906326;40930100;7913952;8120384;8871664;9108485;9168977;9478964;9492069;9571159;9603945;9688283;9878548", "class_list": "", "function": "Acts as a decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis. Inhibits the activation of osteoclasts and promotes osteoclast apoptosis in vitro. Bone homeostasis seems to depend on the local ratio between TNFSF11 and TNFRSF11B. May also play a role in preventing arterial calcification. May act as decoy receptor for TNFSF10/TRAIL and protect against apoptosis. TNFSF10/TRAIL binding blocks the inhibition of osteoclastogenesis., [UniProtKB, PubMed, PubMed]; Circulating osteoprotegerin levels and cardiovascular outcomes in patients with pre-dialysis chronic kidney disease: results from the KNOW-CKD study. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of osteoprotegerin in colorectal cancer cells promotes liver metastasis via activating tumor-associated macrophage. Publication Status: Online-Only, [RefSeq, PubMed]; Osteopontin, osteoprotegerin and musculoskeletal ultrasound findings in first-degree relatives of rheumatoid arthritis: potential markers of preclinical disease. Publication Status: Online-Only, [RefSeq, PubMed]; Osteoprotegerin and receptor activator of the nuclear factor kappa B ligand (RANKL) in healthy pubertal girls - relationships with physical growth and classical bone turnover markers., [RefSeq, PubMed]; Osteoprotegerin mediates adipogenesis in obesity., [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [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": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "risk", "glycan_count": 30, "disease_count": 26, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2R9A8;O60236;Q53FX6;Q9UHP4", "ec_number_list": "", "go_molecular_function": "GO:1904399 heparan sulfate binding;GO:0005125 cytokine activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007165 signal transduction;GO:0006915 apoptotic process;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "O00300-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2S6-1", "uniprot_id": "TNMD_HUMAN", "mass": 37130.0, "length": 317, "protein_name": "Tenomodulin", "gene_name": "TNMD", "organism": "Human", "refseq_name": "tenomodulin", "refseq_ac": "NP_071427", "gene_names_uniprotkb": "TNMD; CHM1L; PRO1565", "gene_names_refseq": "BRICD4; CHM1L; TEM; TNMD", "protein_names_uniprotkb": "Tenomodulin; ChM1L; Chondromodulin-1-like protein; Chondromodulin-I-like protein; Myodulin; TeM; Tendin; hChM1L; hTeM", "protein_names_refseq": "BRICHOS domain containing 4; chondromodulin-1-like protein; chondromodulin-I-like protein; chondromodulin-IB; hChM1L; hTeM; myodulin; tendin; tenomodulin", "tax_id": 9606, "disease": "", "pathway": " (hsa:64102)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10.1101/2023.09.13.557529;11162640;11162673;11357195;12975309;19602561;19780194;22700804;30379171;32083813;34996340", "class_list": "", "function": "Associations between the TNMD rs4828038 and ACE2 rs879922 polymorphisms and preeclampsia susceptibility: a case-control study., [RefSeq, PubMed]; Loss of tenomodulin expression is a risk factor for age-related intervertebral disc degeneration., [RefSeq, PubMed]; May be an angiogenesis inhibitor., [UniProtKB]; This gene encodes a protein that is related to chondromodulin-I, which is a cartilage-specific glycoprotein that functions to stimulate chondrocyte growth and to inhibit tube formation of endothelial cells. This protein is also an angiogenesis inhibitor. Genetic variation in this gene is associated with a risk for type 2 diabetes, central obesity and serum levels of systemic immune mediators in a body size-dependent manner. This gene is also a candidate gene for age-related macular degeneration, though a direct link has yet to be demonstrated. [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": 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": 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": "Q9HBX0;Q9UJG0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0001937 negative regulation of endothelial cell proliferation;GO:0016525 negative regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9H2S6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WUN7-1", "uniprot_id": "UBTD2_HUMAN", "mass": 26190.0, "length": 234, "protein_name": "Ubiquitin domain-containing protein 2", "gene_name": "UBTD2", "organism": "Human", "refseq_name": "ubiquitin domain-containing protein 2", "refseq_ac": "NP_689490", "gene_names_uniprotkb": "UBTD2; DCUBP; SB72", "gene_names_refseq": "DCUBP; UBTD2", "protein_names_uniprotkb": "Ubiquitin domain-containing protein 2; DC-UbP; Dendritic cell-derived ubiquitin-like protein; Ubiquitin-like protein SB72", "protein_names_refseq": "ubiquitin domain-containing protein 2; ubiquitin-like protein SB72", "tax_id": 9606, "disease": "", "pathway": " (hsa:92181)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "12507522;15987890;20440844;25207809;28218747;28832583;29242379;29508533;31844290;32502341;32938616;33592498;33968037", "class_list": "", "function": "A ubiquitin shuttle DC-UbP reconciles protein ubiquitination and deubiquitination via linking UbE1 and USP5 enzymes. Publication Status: Online-Only, [RefSeq, PubMed]; Cloning and identification; DC-UbP might be downregulated during cellular differentiation and apoptosis, [RefSeq, PubMed]; Solution NMR structure of the ubiquitin-like domain of DC-UbP is very similar to that of ubiquitin despite low similarity (<30%) in amino-acid sequence., [RefSeq, PubMed]; The results show that DC-UbP_N holds a novel structural fold and acts as a Ub-binding domain (UBD) but with low affinity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8TDQ3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8WUN7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "C4AMC7-1", "uniprot_id": "WASH3_HUMAN", "mass": 49995.0, "length": 463, "protein_name": "Putative WAS protein family homolog 3", "gene_name": "WASH3P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "WASH3P; FAM39DP", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative WAS protein family homolog 3; Protein FAM39DP", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 16, "publication_id_list": "10655549;18159949;20175130;20498093;22869377;23481700;25576301;25645385;26375851;26758079;31844290;31848261;33298915;33592498;34171305;36581221", "class_list": "", "function": "Acts as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:18159949, PubMed:20175130). Involved in endocytic trafficking of EGF (PubMed:20175130). Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration (By similarity). In T-cells involved in endosome-to-membrane recycling of receptors including T-cell receptor (TCR), CD28 and ITGAL; proposed to be implicated in T cell proliferation and effector function. In dendritic cells involved in endosome-to-membrane recycling of major histocompatibility complex (MHC) class II probably involving retromer and subsequently allowing antigen sampling, loading and presentation during T-cell activation. Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling (By similarity). Involved in the exocytosis of MMP14 leading to matrix remodeling during invasive migration and implicating late endosome-to-plasma membrane tubular connections and cooperation with the exocyst complex (By similarity). Involved in negative regulation of autophagy independently from its role in endosomal sorting by inhibiting BECN1 ubiquitination to inactivate PIK3C3/Vps34 activity (By similarity)., [UniProtKB, PubMed, 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": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0030027 lamellipodium;GO:0055037 recycling endosome;GO:0031901 early endosome membrane", "go_biological_process": "GO:0007032 endosome organization;GO:0045022 early endosome to late endosome transport;GO:0016197 endosomal transport;GO:0006622 protein targeting to lysosome;GO:0034314 Arp2/3 complex-mediated actin nucleation", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "C4AMC7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HAD4-1", "uniprot_id": "WDR41_HUMAN", "mass": 51728.0, "length": 459, "protein_name": "WD repeat-containing protein 41", "gene_name": "WDR41", "organism": "Human", "refseq_name": "WD repeat-containing protein 41", "refseq_ac": "NP_060738", "gene_names_uniprotkb": "WDR41; MSTP048", "gene_names_refseq": "MSTP048; WDR41", "protein_names_uniprotkb": "WD repeat-containing protein 41", "protein_names_refseq": "WD repeat-containing protein 41", "tax_id": 9606, "disease": "", "pathway": " (hsa:55255)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;19913121;20628086;21502949;22544926;23555621;24397554;24715725;26154972;26992070;27103069;27193190;27617292;28195531;28218747;28832583;28834231;28904123;29242379;29557506;29995611;30410026;31217245;31844290;32157095;32303654;32387766;32394588;32488085;32502341;32848248;32897882;32938616;33141586;33298915;33597295;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34509645;34932366;35051231", "class_list": "", "function": "Aberrant methylation of WD-repeat protein 41 contributes to tumour progression in triple-negative breast cancer., [RefSeq, PubMed]; Non-catalytic component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27103069, PubMed:27193190, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:27103069). As part of the C9orf72-SMCR8 complex, stimulates RAB8A and RAB11A GTPase activity in vitro, however WDR42 is shown not be an essential complex component for this function (PubMed:32303654). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ULK1/ATG1 kinase complex and inhibiting its protein kinase activity (PubMed:27103069, PubMed:27617292)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, 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]; Our study not only illustrates the basis of C9ORF72-SMCR8-WDR41 complex assembly but also reveals the GAP activity of the C9ORF72-SMCR8 complex, [RefSeq, PubMed]; Receptor-like role for PQLC2 amino acid transporter in the lysosomal sensing of cationic amino acids., [RefSeq, PubMed]; Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD., [RefSeq, PubMed]; Study reveals an essential role for WDR41 in supporting the regulated binding of C9orf72 to lysosomes and solidifies the requirement for a larger C9orf72 containing protein complex in coordinating lysosomal responses to changes in amino acid availability., [RefSeq, PubMed]; The peak of association was found in and around two genes, WDR41 and PDE8B, involved in dopamine signaling and development., [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": 6, "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": "B4DT55;Q7Z792;Q8IWG3;Q8IXA9;Q8NDA7;Q9NV62", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005765 lysosomal membrane;GO:0032045 guanyl-nucleotide exchange factor complex", "go_biological_process": "GO:0010506 regulation of autophagy;GO:0006914 autophagy;GO:0050777 negative regulation of immune response;GO:0045920 negative regulation of exocytosis", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9HAD4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N2E2-1", "uniprot_id": "VWDE_HUMAN", "mass": 176780.0, "length": 1590, "protein_name": "von Willebrand factor D and EGF domain-containing protein", "gene_name": "VWDE", "organism": "Human", "refseq_name": "von Willebrand factor D and EGF domain-containing protein isoform 1 precursor", "refseq_ac": "NP_001129396", "gene_names_uniprotkb": "VWDE", "gene_names_refseq": "VWDE", "protein_names_uniprotkb": "von Willebrand factor D and EGF domain-containing protein", "protein_names_refseq": "von Willebrand factor D and EGF domain-containing protein isoform 1 precursor; von Willebrand factor D and EGF domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:221806)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;16303743;32938616", "class_list": "", "function": "", "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": 64, "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": "B7ZM77;Q96SQ3", "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_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8N2E2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P98182-1", "uniprot_id": "ZN200_HUMAN", "mass": 45534.0, "length": 395, "protein_name": "Zinc finger protein 200", "gene_name": "ZNF200", "organism": "Human", "refseq_name": "zinc finger protein 200 isoform 3", "refseq_ac": "NP_001138918", "gene_names_uniprotkb": "ZNF200; ZNFMF", "gene_names_refseq": "ZNF200", "protein_names_uniprotkb": "Zinc finger protein 200", "protein_names_refseq": "zinc finger protein 200 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:7752); (R-HSA-212436)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;17584299;2163759;24714562;25576301;26992070;28832583;28904123;29242379;30429286;31844290;32157095;32897882;32983136;33981976;34171305;35051231;35318648;35580925;39513743;8183939;8769649;9288094;9637681;9653119;9787081", "class_list": "", "function": "Localizes protein arginine N-methyltransferase PRMT3 to the nucleus., [UniProtKB, PubMed]; ZNF200 is a novel binding partner of G9a., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "D3DUB7;D3DUB8;O15361;Q5XKM5;Q7Z5V1", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0034504 protein localization to nucleus", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "P98182-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYT6-1", "uniprot_id": "ZN226_HUMAN", "mass": 91921.0, "length": 803, "protein_name": "Zinc finger protein 226", "gene_name": "ZNF226", "organism": "Human", "refseq_name": "zinc finger protein 226 isoform a", "refseq_ac": "NP_001027544", "gene_names_uniprotkb": "ZNF226", "gene_names_refseq": "ZNF226", "protein_names_uniprotkb": "Zinc finger protein 226", "protein_names_refseq": "Kruppel-associated box protein; zinc finger protein 226 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:7769); (R-HSA-212436)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10235266;10330177;11237011;11395415;12743021;14519192;15175151;15896744;16606702;16719718;2163759;23481700;25576301;26154972;28832583;28904123;30429286;31154438;31844290;31848261;32157095;32357974;32897882;32938616;33298915;33592498;33912179;33968037;34185709;34211107;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": "Q8WWE6;Q96TE6;Q9NS44", "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": 3.5, "record_id": "Q9NYT6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H582-1", "uniprot_id": "ZN644_HUMAN", "mass": 149565.0, "length": 1327, "protein_name": "Zinc finger protein 644", "gene_name": "ZNF644", "organism": "Human", "refseq_name": "zinc finger protein 644 isoform 2", "refseq_ac": "NP_057704", "gene_names_uniprotkb": "ZNF644; KIAA1221; ZEP2", "gene_names_refseq": "BM-005; MYP21; NatF; ZEP-2; ZNF644", "protein_names_uniprotkb": "Zinc finger protein 644; Zep-2; Zinc finger motif enhancer-binding protein 2", "protein_names_refseq": "zinc finger motif enhancer binding protein 2; zinc finger protein 644 isoform 2", "tax_id": 9606, "disease": "myopia (Disease Ontology:DOID:11830)", "pathway": " (hsa:84146)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "15302935;16959974;18452278;18669648;18691976;19413330;19651622;19664994;19664995;19691289;20068231;21406692;21695231;21993680;22539872;23186163;23481700;24714562;24715725;24991186;25114211;25218447;25505266;25525168;25576301;25645385;25755297;25772364;25789554;26375851;26728094;26992070;27034204;27846572;28904123;29557506;30379171;30429286;30524438;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;35051231;36010968;36052886;39531497", "class_list": "", "function": "Data indicate zinc finger proteins ZNF644 and WIZ as two core subunits in the histone-lysine N-methyltransferase G9a/GLP complex, and interact with the transcription activation domain of G9a and GLP. Erratum:[Elife. 2015 Apr 22;4. doi: 10.7554/eLife.08168. PMID: 25900010] Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of circ-ZNF644 alleviates LPS-induced HK2 cell injury via miR-335-5p/HIPK1 axis., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; Mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2. Publication Status: Online-Only, [RefSeq, PubMed]; Our data suggested that genetic variants in GRM6 are associated with high myopia. The mechanism of GRM6 in the development of high myopia need to be further investigated., [RefSeq, PubMed]; The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]; Two novel variants in ZNF644 are associated with high-grade myopia in a US cohort., [RefSeq, PubMed]; ZNF644 might be a causal gene for high myopia in a monogenic form., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "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": "A2RU71;Q2TAM0;Q5TCC0;Q6BEP7;Q6P446;Q6PI06;Q7LG67;Q9ULJ9", "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:0001222 transcription corepressor 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": 8.1, "record_id": "Q9H582-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5FWF6-1", "uniprot_id": "ZN789_HUMAN", "mass": 49984.0, "length": 425, "protein_name": "Zinc finger protein 789", "gene_name": "ZNF789", "organism": "Human", "refseq_name": "zinc finger protein 789 isoform 2", "refseq_ac": "NP_001013276", "gene_names_uniprotkb": "ZNF789", "gene_names_refseq": "ZNF789", "protein_names_uniprotkb": "Zinc finger protein 789", "protein_names_refseq": "zinc finger protein 789 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:285989)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;23481700;30379171", "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": 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": "A4D282;A6NH61;Q6ZMZ9", "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": 0.6, "record_id": "Q5FWF6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q499Z4-1", "uniprot_id": "ZN672_HUMAN", "mass": 50224.0, "length": 452, "protein_name": "Zinc finger protein 672", "gene_name": "ZNF672", "organism": "Human", "refseq_name": "zinc finger protein 672", "refseq_ac": "NP_079112", "gene_names_uniprotkb": "ZNF672", "gene_names_refseq": "ZNF672", "protein_names_uniprotkb": "Zinc finger protein 672", "protein_names_refseq": "zinc finger protein 672", "tax_id": 9606, "disease": "", "pathway": " (hsa:79894)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;26811146;26992070;27920218;28832583;28834231;28904123;29242379;29393594;29632046;31848261;32938616;33968037;33981976", "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": "Q96H65;Q96IM3;Q9H6G5", "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:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q499Z4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N9L1-1", "uniprot_id": "ZIC4_HUMAN", "mass": 36567.0, "length": 334, "protein_name": "Zinc finger protein ZIC 4", "gene_name": "ZIC4", "organism": "Human", "refseq_name": "zinc finger protein ZIC 4 isoform 1", "refseq_ac": "NP_001161850", "gene_names_uniprotkb": "ZIC4", "gene_names_refseq": "ZIC4", "protein_names_uniprotkb": "Zinc finger protein ZIC 4; Zinc finger protein of the cerebellum 4", "protein_names_refseq": "Zic family member 4; zinc family member 4 protein HZIC4; zinc finger protein ZIC 4 isoform 1; zinc finger protein ZIC 4; zinc finger protein of the cerebellum 4", "tax_id": 9606, "disease": "Dandy-Walker syndrome (Disease Ontology:DOID:2785); holoprosencephaly (Disease Ontology:DOID:4621)", "pathway": " (hsa:84107)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;15338008;23301498;30429286;31154438;31848261;33097694;34475426;35997131;39266576", "class_list": "", "function": "Binds to DNA., [UniProtKB]; Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy., [RefSeq, PubMed]; Epigenetic silencing of ZIC4 contributes to cancer progression in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Epigenetic silencing of ZIC4 unveils a potential tumor suppressor role in pediatric choroid plexus carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Dec 2009]., [RefSeq]; Through physical mapping of 3q2 interstitial deletions in several individuals with Dandy-Walker malformation (DWM), we defined the first critical region associated with DWM, encompassing two adjacent Zinc finger in cerebellum genes, ZIC1 and ZIC4., [RefSeq, PubMed]; Transcriptional expression of ZICs as an independent indicator of survival in gliomas. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0AVA2;B2RMQ8;B4DF89;B7Z2L2;C9J7D5;J3KQG1;Q4G157;Q9BZ94", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8N9L1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z2F6-1", "uniprot_id": "KRBD5_HUMAN", "mass": 14454.0, "length": 126, "protein_name": "KRAB domain-containing protein 5", "gene_name": "KRABD5", "organism": "Human", "refseq_name": "KRAB domain-containing protein 5 isoform 9", "refseq_ac": "NP_001124385", "gene_names_uniprotkb": "KRABD5; KRBOX5; ZNF720", "gene_names_refseq": "KRABD5; KRBOX5; ZNF720", "protein_names_uniprotkb": "KRAB domain-containing protein 5", "protein_names_refseq": "KRAB box domain containing 5; KRAB domain-containing protein 5 isoform 9; KRAB domain-containing protein 5; putative protein ZNF720; zinc finger protein 720", "tax_id": 9606, "disease": "", "pathway": " (hsa:124411); (R-HSA-212436)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;22645359;25880248;26024233;26154972;26992070;28218747;28228285;28832583;29437277;29508533;29557506;30315122;30410026;31217245;31844290;32157095;32357974;32897882;32983136;33633747;35051231;36284347;8183939;8769649;9637681;9653119", "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": "Q6ZQX1", "ec_number_list": "", "go_molecular_function": "GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0003677 DNA binding;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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q7Z2F6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8K0R7-1", "uniprot_id": "ZN839_HUMAN", "mass": 87484.0, "length": 811, "protein_name": "Zinc finger protein 839", "gene_name": "ZNF839", "organism": "Human", "refseq_name": "zinc finger protein 839 isoform 2", "refseq_ac": "NP_001254756", "gene_names_uniprotkb": "ZNF839; C14orf131", "gene_names_refseq": "C14orf131; ZNF839", "protein_names_uniprotkb": "Zinc finger protein 839; Renal carcinoma antigen NY-REN-50", "protein_names_refseq": "renal carcinoma antigen NY-REN-50; zinc finger protein 839 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55778); (R-HSA-212436)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;28063628;28138309;28228285;28904123;29242379;29485866;29632046;31092671;31844290;32387766;33392160;8183939;8769649;9637681;9653119", "class_list": "", "function": "ZNF839 single nucleotide polymorphism association with colorectal cancer patients survival 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": "B3KSD2;Q53FH5;Q6GPI5;Q86TU1;Q9BQ86;Q9NUU3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "A8K0R7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NK53-1", "uniprot_id": "ZN233_HUMAN", "mass": 76861.0, "length": 670, "protein_name": "Zinc finger protein 233", "gene_name": "ZNF233", "organism": "Human", "refseq_name": "zinc finger protein 233 isoform 1", "refseq_ac": "NP_001193934", "gene_names_uniprotkb": "ZNF233", "gene_names_refseq": "ZNF233", "protein_names_uniprotkb": "Zinc finger protein 233", "protein_names_refseq": "zinc finger protein 233 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:353355); (R-HSA-212436)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10235266;10330177;11237011;11395415;12743021;14519192;15175151;15896744;16606702;16719718;2163759;30179682;30379171;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Study shows that manipulation of ZNF233 expression in hepatocellular carcinoma (HCC) cells affected cell growth through regulating cell cycle progression. Tumorigenicity assay further found that silencing ZNF233 suppressed HCC cell proliferation in vivo, suggesting an oncogenic role of ZNF233 in HCC 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": 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": "B2RN78;B2RN79;Q86WL8", "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": 2.0, "record_id": "A6NK53-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14628-1", "uniprot_id": "ZN195_HUMAN", "mass": 72332.0, "length": 629, "protein_name": "Zinc finger protein 195", "gene_name": "ZNF195", "organism": "Human", "refseq_name": "zinc finger protein 195 isoform 2", "refseq_ac": "NP_001123991", "gene_names_uniprotkb": "ZNF195; ZNFP104", "gene_names_refseq": "HRF1; ZNF195; ZNFP104", "protein_names_uniprotkb": "Zinc finger protein 195", "protein_names_refseq": "hypoxia-regulated factor-1; krueppel family zinc finger protein (znfp104); zinc finger protein 195 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7748); (R-HSA-212436)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10.1101/2023.09.13.557529;10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;19608861;2163759;24714562;24817947;25218447;25576301;25645385;25802875;25892735;26375851;26992070;27846572;27893789;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29769354;29786170;29789417;30315122;30484775;30779550;31154438;31217245;31844290;31848261;32157095;32357974;32387766;32488085;33141586;33392160;33537174;33592498;33912179;34185709;35580925;36010968;36284347;37938771;8183939;8769649;9344677;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein belonging to the Krueppel C2H2-type zinc-finger protein family. These family members are transcription factors that are implicated in a variety of cellular processes. This gene is located near the centromeric border of chromosome 11p15.5, next to an imprinted domain that is associated with maternal-specific loss of heterozygosity in Wilms' tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]., [RefSeq]; ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines. 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": 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": 20, "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": "A8K234;B3KTK2;B4DEL0;C9JLY9;L7MNK2;Q0VAJ6;Q658N8;Q6ZNA9", "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": 6.3, "record_id": "O14628-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HAH1-1", "uniprot_id": "ZN556_HUMAN", "mass": 51581.0, "length": 456, "protein_name": "Zinc finger protein 556", "gene_name": "ZNF556", "organism": "Human", "refseq_name": "zinc finger protein 556 isoform 2", "refseq_ac": "NP_001287772", "gene_names_uniprotkb": "ZNF556", "gene_names_refseq": "ZNF556", "protein_names_uniprotkb": "Zinc finger protein 556", "protein_names_refseq": "zinc finger protein 556 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:80032); (R-HSA-212436)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26992070;28411811;30484775;32387766;36215666;37217939;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": 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": "Q96GM3", "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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9HAH1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99437-1", "uniprot_id": "VATO_HUMAN", "mass": 21406.0, "length": 205, "protein_name": "V-type proton ATPase 21 kDa proteolipid subunit c''", "gene_name": "ATP6V0B", "organism": "Human", "refseq_name": "V-type proton ATPase 21 kDa proteolipid subunit c'' isoform 2", "refseq_ac": "NP_001034546", "gene_names_uniprotkb": "ATP6V0B; ATP6F", "gene_names_refseq": "ATP6F; ATP6V0B; HATPL; VMA16", "protein_names_uniprotkb": "V-type proton ATPase 21 kDa proteolipid subunit c''; V-ATPase 21 kDa proteolipid subunit c''; Vacuolar proton pump 21 kDa proteolipid subunit c''; hATPL", "protein_names_refseq": "ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b; ATPase, H+ transporting, lysosomal, 21-KD, V0 subunit C-prime, prime; ATPase, H+ transporting, lysosomal, subunit F; H(+)-transporting two-sector ATPase, subunit F; V-ATPase 21 kDa proteolipid subunit c''; V-ATPase subunit b; V-ATPase subunit c''; V-type proton ATPase 21 kDa proteolipid subunit c'' isoform 2; V-type proton ATPase 21 kDa proteolipid subunit c''; V-type proton ATPase 21 kDa proteolipid subunit; vacuolar ATP synthase 21 kDa proteolipid subunit; vacuolar proton pump 21 kDa proteolipid subunit c''; vacuolar proton pump 21 kDa proteolipid subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:533); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712); (R-HSA-9857377)", "pathway_count": 7, "publication_count": 134, "publication_id_list": "10029572;10409623;10802645;11237011;11237855;11779865;11800564;11970843;12531241;15854902;15878852;16098514;16227996;16271887;16564538;16574064;16609065;16793765;16959974;17051221;17470430;17662945;17729390;18406720;18497260;18604198;18794901;19089323;19321446;20134026;20381137;21124855;22053050;22087256;22575674;22980980;23401004;23723238;24081491;24095279;24715725;25259925;25263562;25457612;25561175;25567906;25576301;25819761;26205815;26449471;26586190;26972053;26992070;27308486;27487210;27600516;27648300;27846572;28066558;28199306;28199315;28228285;2825632;2848506;28514659;28832583;28834231;28904123;29053970;29056322;29123071;29236692;29242379;29331515;29557506;29596046;29632711;2986535;30061680;30181260;30254208;30315122;30337524;30410026;30429286;3061785;30651352;30779550;31154438;31222486;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33065002;33592498;33691108;33968037;33981976;34087483;34171305;34357683;34509645;35051231;35154160;35580925;36010968;36215666;36241641;36284347;37938771;6141558;6309857;7499430;7929063;7980580;8300632;8537108;8682206;8995282;9465039;9609117;9653649;9793760", "class_list": "", "function": "Proton-conducting pore forming of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment., [UniProtKB, UniProtKB, UniProtKB]; Proton-conducting pore forming subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed]; This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. 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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "D3DPY5;Q6IB32", "ec_number_list": "", "go_molecular_function": "GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0030670 phagocytic vesicle membrane", "go_biological_process": "GO:0016241 regulation of macroautophagy;GO:0048388 endosomal lumen acidification;GO:0007042 lysosomal lumen acidification;GO:0007035 vacuolar acidification;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "Q99437-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12901-1", "uniprot_id": "ZN155_HUMAN", "mass": 62081.0, "length": 538, "protein_name": "Zinc finger protein 155", "gene_name": "ZNF155", "organism": "Human", "refseq_name": "zinc finger protein 155 isoform 1", "refseq_ac": "NP_001247415", "gene_names_uniprotkb": "ZNF155", "gene_names_refseq": "ZNF155; pHZ-96", "protein_names_uniprotkb": "Zinc finger protein 155", "protein_names_refseq": "KRAB A domain; zinc finger protein 155 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7711); (R-HSA-212436)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10235266;10330177;11237011;11395415;12743021;14519192;15175151;15896744;16606702;16719718;16959974;2163759;25892735;29557506;29769354;31492838;31844290;32265295;33968037;7557990;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": 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": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2BDE6;B2RB63;B4DM95;J3KQ08;Q6AZZ8;Q9UIE1;Q9UK14", "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:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q12901-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NE65-1", "uniprot_id": "ZN738_HUMAN", "mass": 43875.0, "length": 375, "protein_name": "Zinc finger protein 738", "gene_name": "ZNF738", "organism": "Human", "refseq_name": "zinc finger protein 738 isoform 1", "refseq_ac": "NP_001342166", "gene_names_uniprotkb": "ZNF738", "gene_names_refseq": "ZNF738", "protein_names_uniprotkb": "Zinc finger protein 738", "protein_names_refseq": "protein ZNF738; zinc finger protein 738 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:148203); (R-HSA-212436)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;33298915;33912179;37217939;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": 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": "A8K4N7", "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:0004842 ubiquitin-protein transferase activity;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:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q8NE65-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2M218-1", "uniprot_id": "ZN630_HUMAN", "mass": 76094.0, "length": 657, "protein_name": "Zinc finger protein 630", "gene_name": "ZNF630", "organism": "Human", "refseq_name": "zinc finger protein 630 isoform 1", "refseq_ac": "NP_001032824", "gene_names_uniprotkb": "ZNF630", "gene_names_refseq": "ZNF630; dJ54B20.2", "protein_names_uniprotkb": "Zinc finger protein 630", "protein_names_refseq": "dJ54B20.2 (novel KRAB box containing C2H2 type zinc finger protein); zinc finger protein 630 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57232)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;20186789;27893789;28832583;31844290;32357974", "class_list": "", "function": "Detected 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "F8WAG4;Q5H8Z5", "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:0031981 nuclear lumen;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": 0.7, "record_id": "Q2M218-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3KP31-1", "uniprot_id": "ZN791_HUMAN", "mass": 66872.0, "length": 576, "protein_name": "Zinc finger protein 791", "gene_name": "ZNF791", "organism": "Human", "refseq_name": "zinc finger protein 791", "refseq_ac": "NP_699189", "gene_names_uniprotkb": "ZNF791", "gene_names_refseq": "ZNF791", "protein_names_uniprotkb": "Zinc finger protein 791", "protein_names_refseq": "zinc finger protein 791", "tax_id": 9606, "disease": "", "pathway": " (hsa:163049); (R-HSA-212436)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;24715725;25576301;28832583;29242379;29493099;29786170;31217245;31844290;31848261;32157095;32897882;32983136;33717175;33968037;34932366;35318648;35989482;36241641;39302247;8183939;8769649;9637681;9653119", "class_list": "", "function": "LncRNA KCNQ1OT1 contributes to hydrogen peroxide-induced apoptosis, inflammation, and oxidative stress of cardiomyocytes via miR-130a-3p/ZNF791 axis., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B7Z586;Q8NC99", "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": 3.6, "record_id": "Q3KP31-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H8G1-1", "uniprot_id": "ZN430_HUMAN", "mass": 66319.0, "length": 570, "protein_name": "Zinc finger protein 430", "gene_name": "ZNF430", "organism": "Human", "refseq_name": "zinc finger protein 430 isoform 1", "refseq_ac": "NP_079465", "gene_names_uniprotkb": "ZNF430", "gene_names_refseq": "ZNF430", "protein_names_uniprotkb": "Zinc finger protein 430", "protein_names_refseq": "zinc finger protein 430 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80264); (R-HSA-212436)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25880248;26992070;27920218;28063628;28904123;29393594;29632046;29786170;30379171;30429286;31217245;31844290;31848261;32157095;32265295;32357974;32983136;33592498;33691108;33912179;33968037;33981976;34171305;35051231;35561310;37217939;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": "Q86V70", "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:0021762 substantia nigra development", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9H8G1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13360-1", "uniprot_id": "ZN177_HUMAN", "mass": 54782.0, "length": 481, "protein_name": "Zinc finger protein 177", "gene_name": "ZNF177", "organism": "Human", "refseq_name": "zinc finger protein 177 isoform a", "refseq_ac": "NP_001166122", "gene_names_uniprotkb": "ZNF177", "gene_names_refseq": "ZNF177", "protein_names_uniprotkb": "Zinc finger protein 177", "protein_names_refseq": "zinc finger protein 177 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:100529215); (hsa:7730)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11237011;11549323;32157095;32357974;33592498;33968037;35051231;8661005", "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": "B4DY57;E9PDG0;I3L0I4;Q96ER2", "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:0072562 blood microparticle", "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": 0.9, "record_id": "Q13360-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BSK1-1", "uniprot_id": "ZN577_HUMAN", "mass": 54939.0, "length": 485, "protein_name": "Zinc finger protein 577", "gene_name": "ZNF577", "organism": "Human", "refseq_name": "zinc finger protein 577 isoform b", "refseq_ac": "NP_001129062", "gene_names_uniprotkb": "ZNF577", "gene_names_refseq": "ZNF577", "protein_names_uniprotkb": "Zinc finger protein 577", "protein_names_refseq": "zinc finger protein 577 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:84765); (R-HSA-212436)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;18452278;2163759;32390948;35051231;35561310;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; ZNF577 Methylation Levels in Leukocytes From Women With Breast Cancer Is Modulated by Adiposity, Menopausal State, and the Mediterranean Diet. 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": 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": "A8K0B4;A8K6Z7;C9JFB9", "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:0005654 nucleoplasm;GO:0005730 nucleolus", "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": "Q9BSK1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9C0J8-1", "uniprot_id": "WDR33_HUMAN", "mass": 145891.0, "length": 1336, "protein_name": "pre-mRNA 3' end processing protein WDR33", "gene_name": "WDR33", "organism": "Human", "refseq_name": "pre-mRNA 3' end processing protein WDR33 isoform 2", "refseq_ac": "NP_001006623", "gene_names_uniprotkb": "WDR33; WDC146", "gene_names_refseq": "NET14; WDC146; WDR33", "protein_names_uniprotkb": "pre-mRNA 3' end processing protein WDR33; WD repeat-containing protein 33; WD repeat-containing protein of 146 kDa", "protein_names_refseq": "WD repeat-containing protein 33; WD repeat-containing protein WDC146; WD repeat-containing protein of 146 kDa; pre-mRNA 3' end processing protein WDR33 isoform 2; pre-mRNA 3' end processing protein WDR33", "tax_id": 9606, "disease": "primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:55339); (R-HSA-159231); (R-HSA-72187); (R-HSA-73856); (R-HSA-77595); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 133, "publication_id_list": "10669729;11014198;11060040;11162572;11237011;11747608;11979277;12871933;14519844;14749727;14762106;15037765;15084397;15120988;15565158;15998806;17081983;17128255;17190602;17317185;17984224;18288197;18411249;18452278;18669648;18707149;18957205;19217410;19413330;19494120;19608861;19651622;19836239;20058876;20068231;2017161;20573985;20630994;20695905;20844015;21295486;21406692;21911577;21947206;22207203;22813749;22928037;23186163;23222130;23299939;23481700;23582887;23804756;23874216;24076191;24129315;24149845;24244187;24275569;25218447;25301780;25301781;25576301;25645385;25662211;25802875;25836925;25892735;26092250;26375851;26992070;27108190;27600516;27846572;27920218;28096519;28218747;28228285;28832583;28834231;28911096;29186539;29242379;29274231;29437277;29557506;29632711;29769354;29786170;29902443;30139799;30257008;30315122;30379171;30410026;30429286;30599162;30779550;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32816001;32938616;32983136;33177556;33298915;33537174;33592498;33717175;33912179;33968037;34019948;34185709;34357683;35051231;35177536;35215846;35580925;36010968;36284347;37938771;38253038;38430516;39327832;40596516;9659921", "class_list": "", "function": "Essential for both cleavage and polyadenylation of pre-mRNA 3' ends., [UniProtKB, PubMed]; Non-canonical isoforms of the mRNA polyadenylation factor WDR33 regulate STING-mediated immune responses., [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. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; WDR33 alternative polyadenylation is dependent on stochastic poly(a) site usage and splicing efficiencies., [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": 8, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q05DP8;Q53FG9;Q587J1;Q69YF7;Q6NUQ0;Q9NUL1", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0001650 fibrillar center;GO:0005847 mRNA cleavage and polyadenylation specificity factor complex", "go_biological_process": "GO:0007283 spermatogenesis;GO:0006301 DNA damage tolerance;GO:0031124 mRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q9C0J8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BU19-1", "uniprot_id": "ZN692_HUMAN", "mass": 56968.0, "length": 519, "protein_name": "Zinc finger protein 692", "gene_name": "ZNF692", "organism": "Human", "refseq_name": "zinc finger protein 692 isoform 1", "refseq_ac": "NP_001129508", "gene_names_uniprotkb": "ZNF692; AREBP; ZFP692", "gene_names_refseq": "AREBP; ZNF692; Zfp692", "protein_names_uniprotkb": "Zinc finger protein 692; AICAR responsive element binding protein", "protein_names_refseq": "AICAR responsive element binding protein; zinc finger protein 692 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55657); (R-HSA-212436)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;17097062;18452278;2163759;21910974;23186163;24715725;25418920;26992070;28218747;28669730;28832583;29242379;29393594;29437277;29557506;29632046;30466806;30816443;31844290;32157095;33912179;33936100;33968037;34171305;35051231;37980166;38291502;38382671;38650011;8183939;8769649;9637681;9653119", "class_list": "", "function": "Cloning and characterization of a novel zinc finger transcription factor referred to as AREBP. AREBP is phosphorylated at Ser(470) by AMPK., [RefSeq, PubMed]; Comprehensive analysis of ZNF692 as a potential biomarker associated with immune infiltration in a pan cancer analysis and validation in hepatocellular carcinoma., [RefSeq, PubMed]; May act as an transcriptional repressor for PCK1 gene expression, in turn may participate in the hepatic gluconeogenesis regulation through the activated AMPK signaling pathway., [UniProtKB, PubMed, PubMed]; Results found that ZNF692 was upregulated in colon adenocarcinoma (COAD) tissues and cells and that high ZNF692 expression was significantly correlated with lymph node metastasis, distant metastasis and tumor stage in COAD patients. Furthermore, ZNF692 promoted COAD cell proliferation, migration and invasion via the PI3K/AKT pathway, suggesting that ZNF692 may serve as a novel oncogene for COAD., [RefSeq, PubMed]; The results show that ZNF692 is expressed in LUAD tissues compared to adjacent normal tissues, and hyper-expression of ZNF692 in LUAD is an independent risk factor for worse overall survival in LUAD patients (HR: 8.800, 95%CI: 1.082-71.560, P = 0.042) by Tissue Microarray stain assay (TMA)., [RefSeq, PubMed]; ZNF692 promotes CC cells proliferation and invasion through suppressing p27(kip1) transcription by directly binding its promoter region., [RefSeq, PubMed]; ZNF692 promotes cell proliferation, invasion and migration of human prostate cancer cells by targeting the EMT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; ZNF692 promotes osteosarcoma cell proliferation, migration, and invasion through TNK2-mediated activation of the MEK/ERK pathway. Publication Status: Online-Only, [RefSeq, PubMed]; ZNF692 regulates nucleolar morphology by interacting with NPM1 and modifying its self-assembly properties., [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": 4, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 11, "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": "B4DXZ0;Q5SRA5;Q5SRA6;Q9HBC9;Q9NW93;Q9NWY6;Q9UF97", "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:0005730 nucleolus", "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:0006111 regulation of gluconeogenesis;GO:0080090 regulation of primary metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9BU19-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94892-1", "uniprot_id": "ZN432_HUMAN", "mass": 74836.0, "length": 652, "protein_name": "Zinc finger protein 432", "gene_name": "ZNF432", "organism": "Human", "refseq_name": "zinc finger protein 432", "refseq_ac": "NP_001309213", "gene_names_uniprotkb": "ZNF432; KIAA0798", "gene_names_refseq": "ZNF432", "protein_names_uniprotkb": "Zinc finger protein 432", "protein_names_refseq": "zinc finger protein 432", "tax_id": 9606, "disease": "", "pathway": " (hsa:9668); (R-HSA-212436)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;16777052;16959974;2163759;23481700;24280104;29242379;29671580;31844290;32157095;33091337;34087483;34185709;35580925;37823600;39894887;8183939;8769649;9637681;9653119", "class_list": "", "function": "Homologous recombination repressor that functions as a poly(ADP-ribose) (PAR) reader regulating DNA damage response and PARP inhibition. Once recruited to DNA lesions via DNA-, in a PAR-dependent mechanism, stimulates PARP1 activity (PubMed:37823600). Binds preferentially ssDNA and inhibits EXO1-mediated resection, probably through a PAR-independent DNA-binding mechanism (PubMed:37823600)., [UniProtKB, PubMed]; Inhaled corticosteroids appear to modulate the association of bronchodilator response with variant(s) in the ZNF432 gene among adults and children with asthma., [RefSeq, PubMed]; ZNF432 stimulates PARylation and inhibits DNA resection to balance PARPi sensitivity and resistance., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "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:0030674 protein-macromolecule adaptor activity;GO:0003684 damaged 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:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "O94892-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZ20-1", "uniprot_id": "ZN683_HUMAN", "mass": 56905.0, "length": 524, "protein_name": "Tissue-resident T-cell transcription regulator protein ZNF683", "gene_name": "ZNF683", "organism": "Human", "refseq_name": "tissue-resident T-cell transcription regulator protein ZNF683 isoform 1", "refseq_ac": "NP_001108231", "gene_names_uniprotkb": "ZNF683", "gene_names_refseq": "Hobit; ZNF683", "protein_names_uniprotkb": "Tissue-resident T-cell transcription regulator protein ZNF683; Hobit; Homolog of Blimp-1 in T-cell; Zinc finger protein 683", "protein_names_refseq": "homolog of Blimp-1 in T cells; homolog of Blimp-1 in T-cell; hypothetical protein MGC33414; tissue-resident T-cell transcription regulator protein ZNF683 isoform 1; tissue-resident T-cell transcription regulator protein ZNF683", "tax_id": 9606, "disease": "", "pathway": " (hsa:257101)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;20921622;26179882;26440905;28751776;29242379;29786170;30051906;32938616;35051231;35458449;36245253;36581221;36869093", "class_list": "", "function": "Cancer-specific tissue-resident memory T-cells express ZNF683 in colorectal cancer., [RefSeq, PubMed]; Hobit's function in human T cells is highly adapted to lifelong, periodic challenges with varying, physiological doses of pathogens. Review article, [RefSeq, PubMed]; Lacks transcriptional repressor activity. Binds to DNA within promoter regions of the transcriptional repressor PRDM1/BLIMP1 target sites. Unable to regulate interferon-gamma (IFN-gamma) production in cytomegalovirus (CMV)-infected effector CD8(+) T-cells., [UniProtKB, PubMed]; Single-cell transcriptome profiling reveals the key role of ZNF683 in natural killer cell exhaustion in multiple myeloma., [RefSeq, PubMed]; These data implicate Hobit as a novel transcriptional regulator in quiescent human effector-type CD8(+) T cells that regulates their immediate effector functions., [RefSeq, PubMed]; These findings suggest that Blimp-1 initiates cytotoxic effector function and that Hobit maintains cytotoxicity in a deployment-ready modus in tissue-resident memory CD8 T cells., [RefSeq, PubMed]; Transcription Factor ZNF683 Inhibits SIV/HIV Replication through Regulating IFNgamma Secretion of CD8+ T Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor Hobit identifies a subset of NK cells in Human livers that express a distinct set of adhesion molecules and chemokine receptors consistent with tissue residency. These data suggest that Hobit is involved in regulating tissue-residency of human intrahepatic CD56bright NK cells in a subset of NK cells in inflamed livers. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T-cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue-resident lymphocyte T cell types in non-lymphoid organs, such as the skin and gut, but also in other nonbarrier tissues like liver and kidney, and therefore may provide immediate immunological protection against reactivating infections or viral reinfection. Also plays a role in the differentiation of both thymic and peripheral NKT cells. Negatively regulates the accumulation of interferon-gamma (IFN-gamma) in NKT cells at steady state or after antigenic stimulation. Positively regulates granzyme B production in NKT cells after innate stimulation. Associates with the transcriptional repressor PRDM1/BLIMP1 to chromatin at gene promoter regions., [UniProtKB, UniProtKB]; Transcriptional repressor that binds to DNA within promoter regions of the transcriptional repressor PRDM1/BLIMP1 target sites. Regulates interferon-gamma (IFN-gamma) production in cytomegalovirus (CMV)-infected effector CD8(+) T cells., [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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5T141;Q5T146;Q5T147;Q5T149;Q8NEN4", "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:1990841 promoter-specific chromatin binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0032823 regulation of natural killer cell differentiation;GO:0033082 regulation of extrathymic T cell differentiation;GO:0051136 regulation of NK T cell differentiation;GO:0032826 regulation of natural killer cell differentiation involved in immune response;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8IZ20-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15090-1", "uniprot_id": "ZN536_HUMAN", "mass": 141417.0, "length": 1300, "protein_name": "Zinc finger protein 536", "gene_name": "ZNF536", "organism": "Human", "refseq_name": "zinc finger protein 536 isoform 1", "refseq_ac": "NP_055532", "gene_names_uniprotkb": "ZNF536; KIAA0390", "gene_names_refseq": "ZNF536", "protein_names_uniprotkb": "Zinc finger protein 536", "protein_names_refseq": "zinc finger protein 536 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9745)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;14621294;17065439;19398580;19690332;25418920;25645385;26929215;27846572;30379171;30429286;31844290;32157095;32387766;34561969;35051231;38720348", "class_list": "", "function": "Characterization of zinc finger protein 536, a neuroendocrine regulator, using pan-cancer analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation. [provided by RefSeq, Sep 2015]., [RefSeq]; Transcriptional repressor that negatively regulates neuron differentiation by repressing retinoic acid-induced gene transcription (PubMed:19398580). Binds and interrupts RARA from binding to retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5 (PubMed:19398580). Recognizes and binds 2 copies of the core DNA sequence 5'-CCCCCA-3' (PubMed:14621294)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; ZFP536 promotes the late phase of oligodendrocyte 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 140, "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": "A2RU18", "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: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": 2.0, "record_id": "O15090-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95780-1", "uniprot_id": "ZN682_HUMAN", "mass": 58361.0, "length": 498, "protein_name": "Zinc finger protein 682", "gene_name": "ZNF682", "organism": "Human", "refseq_name": "zinc finger protein 682 isoform 1", "refseq_ac": "NP_149973", "gene_names_uniprotkb": "ZNF682", "gene_names_refseq": "BC39498_3; ZNF682", "protein_names_uniprotkb": "Zinc finger protein 682", "protein_names_refseq": "zinc finger protein 682 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:91120); (R-HSA-212436)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B3KU64;E9PFJ5;Q96JV9", "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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "O95780-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TAF7-1", "uniprot_id": "ZN461_HUMAN", "mass": 66214.0, "length": 563, "protein_name": "Zinc finger protein 461", "gene_name": "ZNF461", "organism": "Human", "refseq_name": "zinc finger protein 461 isoform 2", "refseq_ac": "NP_001284552", "gene_names_uniprotkb": "ZNF461; GIOT1", "gene_names_refseq": "GIOT-1; GIOT1; HZF28; ZNF461", "protein_names_uniprotkb": "Zinc finger protein 461; GIOT-1; Gonadotropin-inducible ovary transcription repressor 1", "protein_names_refseq": "gonadotropin-inducible ovarian transcription factor-1; gonadotropin-inducible ovary transcription repressor 1; zinc finger protein 28; zinc finger protein 461 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:92283); (R-HSA-212436)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15004467;15175151;15896744;16606702;16719718;2163759;30833945;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Molecular cloning and tissue distribution of ZNF461., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8K9W9;Q6VSF7;Q9ULZ8", "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": 1.7, "record_id": "Q8TAF7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPR6-1", "uniprot_id": "ZFR2_HUMAN", "mass": 101330.0, "length": 939, "protein_name": "Zinc finger RNA-binding protein 2", "gene_name": "ZFR2", "organism": "Human", "refseq_name": "zinc finger RNA-binding protein 2 isoform 2", "refseq_ac": "NP_001139112", "gene_names_uniprotkb": "ZFR2; KIAA1086", "gene_names_refseq": "KIAA1086; ZFR2", "protein_names_uniprotkb": "Zinc finger RNA-binding protein 2", "protein_names_refseq": "zinc finger RNA-binding protein 2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23217)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;22645359;26024233;26992070;32387766;33633747;34509645;35051231", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "B4DHD0", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003725 double-stranded RNA binding;GO:0003727 single-stranded RNA binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9UPR6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q0VGE8-1", "uniprot_id": "ZN816_HUMAN", "mass": 75725.0, "length": 651, "protein_name": "Zinc finger protein 816", "gene_name": "ZNF816", "organism": "Human", "refseq_name": "zinc finger protein 816", "refseq_ac": "NP_001026835", "gene_names_uniprotkb": "ZNF816; ZNF816A", "gene_names_refseq": "ZNF816A; ZNF816", "protein_names_uniprotkb": "Zinc finger protein 816", "protein_names_refseq": "zinc finger protein 816A; zinc finger protein 816", "tax_id": 9606, "disease": "", "pathway": " (hsa:125893); (R-HSA-9843940)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10330177;11237011;11959841;12869583;14536086;15882967;16567619;16954381;18082607;2028256;20953187;25274305;25576301;25892735;26813693;28273063;31289231;31427381;31844290;32157095;32983136;35051231;8769649;9016654", "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": 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": "A8K7H5;Q3KR39;Q659B3", "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": 2.5, "record_id": "Q0VGE8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q68DY1-1", "uniprot_id": "ZN626_HUMAN", "mass": 60893.0, "length": 528, "protein_name": "Zinc finger protein 626", "gene_name": "ZNF626", "organism": "Human", "refseq_name": "zinc finger protein 626 isoform 1", "refseq_ac": "NP_001070143", "gene_names_uniprotkb": "ZNF626", "gene_names_refseq": "ZNF626", "protein_names_uniprotkb": "Zinc finger protein 626", "protein_names_refseq": "CTC-513N18.7; zinc finger protein 626 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:199777); (R-HSA-212436)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;32157095;32357974;33592498;35051231;35580925;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": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N8T4;Q96QM1", "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": 2.0, "record_id": "Q68DY1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "B1APH4-1", "uniprot_id": "ZN487_HUMAN", "mass": 23773.0, "length": 207, "protein_name": "Zinc finger protein 487", "gene_name": "ZNF487", "organism": "Human", "refseq_name": "zinc finger protein 487 isoform 1", "refseq_ac": "NP_001342373", "gene_names_uniprotkb": "ZNF487; KRBO1; ZNF487P", "gene_names_refseq": "KRBO1; ZNF487P; ZNF487", "protein_names_uniprotkb": "Zinc finger protein 487; KRAB domain only protein 1", "protein_names_refseq": "KRAB domain only 1; KRAB domain only protein 1; putative zinc finger protein 487; zinc finger protein 487 isoform 1; zinc finger protein 487, pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:642819)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "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": "A0A494C0H0;B1APH5;B7Z7S5", "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: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": 0.2, "record_id": "B1APH4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZNC4-1", "uniprot_id": "ZN704_HUMAN", "mass": 45276.0, "length": 412, "protein_name": "Zinc finger protein 704", "gene_name": "ZNF704", "organism": "Human", "refseq_name": "zinc finger protein 704 isoform 1", "refseq_ac": "NP_001028895", "gene_names_uniprotkb": "ZNF704", "gene_names_refseq": "Gig1; ZNF704", "protein_names_uniprotkb": "Zinc finger protein 704", "protein_names_refseq": "glucocorticoid induced gene 1; zinc finger protein 704 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:619279); (R-HSA-212436)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;18669648;2163759;30379171;30429286;31376183;32651256;33141586;33592498;33981976;35051231;38937788;8183939;8769649;9637681;9653119", "class_list": "", "function": "Circadian Rhythm Is Disrupted by ZNF704 in Breast Carcinogenesis., [RefSeq, PubMed]; Circular RNA HSDL2 promotes breast cancer progression via miR-7978 ZNF704 axis and regulating hippo signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor which binds to RE2 sequence elements in the MYOD1 enhancer., [UniProtKB, UniProtKB]; Tumor marker zinc finger protein 704 as part of a four gene transcript score has prognostic value for metastatic-lethal progression in men treated for localized prostate 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": 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": 15, "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": "B2RNE6;B9EGW6", "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: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": 2.8, "record_id": "Q6ZNC4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PJI9-1", "uniprot_id": "WDR59_HUMAN", "mass": 109793.0, "length": 974, "protein_name": "GATOR2 complex protein WDR59", "gene_name": "WDR59", "organism": "Human", "refseq_name": "GATOR2 complex protein WDR59 isoform 2", "refseq_ac": "NP_001311100", "gene_names_uniprotkb": "WDR59; FP977; KIAA1923", "gene_names_refseq": "CDW12; FP977; WDR59; p90-120", "protein_names_uniprotkb": "GATOR2 complex protein WDR59; WD repeat-containing protein 59", "protein_names_refseq": "CDw12 antigen; GATOR complex protein WDR59; GATOR2 complex protein WDR59 isoform 2; GATOR2 complex protein WDR59; WD repeat-containing protein 59", "tax_id": 9606, "disease": "", "pathway": " (hsa:79726); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "11237011;15498874;15854902;15878852;16098514;17470430;18497260;18604198;18669648;19413330;19664994;19844255;20068231;20381137;22053050;22575674;22980980;23186163;23481700;23723238;24081491;24095279;24275569;24714562;25259925;25263562;25418920;25457612;25561175;25567906;25576301;25819761;26375851;26449471;26586190;26728094;26972053;26992070;27308486;27487210;27648300;28066558;28199306;28199315;28228285;28832583;28834231;28904123;29053970;29056322;29123071;29236692;29242379;29437277;29508533;29632711;29786170;30061680;30181260;30315122;30410026;30651352;30779550;31844290;31848261;32157095;32161166;32357974;32488085;32502341;32897882;32938616;33298915;33717175;33912179;33968037;33981976;34171305;34185709;35051231;35580925;35831510;36010968;36528027;36577058;7499430", "class_list": "", "function": "As a component of the GATOR2 complex, functions as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway (PubMed:23723238, PubMed:25457612, PubMed:27487210, PubMed:35831510, PubMed:36528027, PubMed:36577058). The GATOR2 complex indirectly activates mTORC1 through the inhibition of the GATOR1 subcomplex (PubMed:23723238, PubMed:27487210, PubMed:35831510, PubMed:36528027). GATOR2 probably acts as an E3 ubiquitin-protein ligase toward GATOR1 (PubMed:36528027). In the presence of abundant amino acids, the GATOR2 complex mediates ubiquitination of the NPRL2 core component of the GATOR1 complex, leading to GATOR1 inactivation (PubMed:36528027). In the absence of amino acids, GATOR2 is inhibited, activating the GATOR1 complex (PubMed:25457612, PubMed:27487210)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 8, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 34, "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": "B3KRC3;Q71RE7;Q96PW5;Q9BSW6;Q9HA43", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005765 lysosomal membrane;GO:0005774 vacuolar membrane;GO:0061700 GATOR2 complex;GO:0035859 Seh1-associated complex", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0072659 protein localization to plasma membrane;GO:0031669 cellular response to nutrient levels;GO:0034198 cellular response to amino acid starvation;GO:1904262 negative regulation of TORC1 signaling", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q6PJI9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UK10-1", "uniprot_id": "ZN225_HUMAN", "mass": 82471.0, "length": 706, "protein_name": "Zinc finger protein 225", "gene_name": "ZNF225", "organism": "Human", "refseq_name": "zinc finger protein 225", "refseq_ac": "NP_001308614", "gene_names_uniprotkb": "ZNF225", "gene_names_refseq": "ZNF225", "protein_names_uniprotkb": "Zinc finger protein 225", "protein_names_refseq": "zinc finger protein 225", "tax_id": 9606, "disease": "", "pathway": " (hsa:7768); (R-HSA-212436)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10235266;10330177;11237011;11395415;12743021;14519192;15175151;15896744;16606702;16719718;2163759;23481700;26992070;28834231;29393594;29508533;33592498;33968037;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": "A8K8S2;Q53F12;Q9NS46;Q9UID8", "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: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": 2.3, "record_id": "Q9UK10-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q504Y3-1", "uniprot_id": "ZCPW2_HUMAN", "mass": 41376.0, "length": 356, "protein_name": "Zinc finger CW-type PWWP domain protein 2", "gene_name": "ZCWPW2", "organism": "Human", "refseq_name": "zinc finger CW-type PWWP domain protein 2 isoform a", "refseq_ac": "NP_001035522", "gene_names_uniprotkb": "ZCWPW2", "gene_names_refseq": "ZCW2; ZCWPW2", "protein_names_uniprotkb": "Zinc finger CW-type PWWP domain protein 2", "protein_names_refseq": "zinc finger CW-type PWWP domain protein 2 isoform a; zinc finger CW-type PWWP domain protein 2; zinc finger CW-type and PWWP domain 2; zinc finger, CW type with PWWP domain 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:152098)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;25576301;26933034;34087483;35217607", "class_list": "", "function": "Histone methylation reader which binds to non-methylated (H3K4me0), monomethylated (H3K4me1), dimethylated (H3K4me2) and trimethylated (H3K4me3) 'Lys-4' on histone H3 (PubMed:26933034). The order of binding preference is H3K4me3 > H3K4me2 > H3K4me1 > H3K4me0 (PubMed:26933034)., [UniProtKB, PubMed]; PRDM9 losses in vertebrates are coupled to those of paralogs ZCWPW1 and ZCWPW2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 28, "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:0140002 histone H3K4me3 reader activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q504Y3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14588-1", "uniprot_id": "ZN234_HUMAN", "mass": 80560.0, "length": 700, "protein_name": "Zinc finger protein 234", "gene_name": "ZNF234", "organism": "Human", "refseq_name": "zinc finger protein 234", "refseq_ac": "NP_001138296", "gene_names_uniprotkb": "ZNF234; ZNF269", "gene_names_refseq": "HZF4; ZNF234; ZNF269", "protein_names_uniprotkb": "Zinc finger protein 234; Zinc finger protein 269; Zinc finger protein HZF4", "protein_names_refseq": "C2-H2 type zinc finger protein; Homo sapiens zinc finger 234; zinc finger protein 234, partial sequence; zinc finger protein 234; zinc finger protein 269; zinc finger protein 4; zinc finger protein HZF4", "tax_id": 9606, "disease": "", "pathway": " (hsa:10780); (R-HSA-212436)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10235266;10330177;11237011;11395415;12743021;14519192;15175151;15896744;16606702;16719718;2163759;25576301;26992070;28834231;29242379;30524438;31844290;32157095;32357974;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": 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": "A8K1C8;Q96IR4;Q9NS45;Q9NYT7", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0043565 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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q14588-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NDQ6-1", "uniprot_id": "ZN540_HUMAN", "mass": 77094.0, "length": 660, "protein_name": "Zinc finger protein 540", "gene_name": "ZNF540", "organism": "Human", "refseq_name": "zinc finger protein 540 isoform a", "refseq_ac": "NP_001165696", "gene_names_uniprotkb": "ZNF540; Nbla10512", "gene_names_refseq": "Nbla10512; ZNF540", "protein_names_uniprotkb": "Zinc finger protein 540", "protein_names_refseq": "CTD-3064H18.6; putative protein product of Nbla10512; zinc finger protein 540 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:163255); (R-HSA-212436)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10235266;10330177;11237011;11395415;12880961;14519192;15175151;15896744;16606702;16719718;16815308;16959974;19413330;2163759;23033978;25892735;28832583;30315122;31154438;31530632;33592498;8183939;8769649;9637681;9653119", "class_list": "", "function": "May act as a transcriptional repressor., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Taken together, these results suggest that ZNF540 may act as a transcriptional repressor in MAPK signaling pathway to mediate cellular functions., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A0AVS5;A8K371;Q05D58;Q3LIC5;Q6ZN36;Q7Z3C8;Q86T31", "ec_number_list": "", "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor 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:0003677 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:0045892 negative regulation of DNA-templated transcription;GO:0017148 negative regulation of translation;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8NDQ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PG37-1", "uniprot_id": "ZN790_HUMAN", "mass": 74571.0, "length": 636, "protein_name": "Zinc finger protein 790", "gene_name": "ZNF790", "organism": "Human", "refseq_name": "zinc finger protein 790", "refseq_ac": "NP_001229729", "gene_names_uniprotkb": "ZNF790", "gene_names_refseq": "ZNF790", "protein_names_uniprotkb": "Zinc finger protein 790", "protein_names_refseq": "zinc finger protein 790", "tax_id": 9606, "disease": "", "pathway": " (hsa:388536); (R-HSA-212436)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25892735;31844290;32938616;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": 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: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": "Q6PG37-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N554-1", "uniprot_id": "ZN276_HUMAN", "mass": 67219.0, "length": 614, "protein_name": "Zinc finger protein 276", "gene_name": "ZNF276", "organism": "Human", "refseq_name": "zinc finger protein 276 isoform a", "refseq_ac": "NP_001106997", "gene_names_uniprotkb": "ZNF276; CENP-Z; ZFP276; ZNF477", "gene_names_refseq": "CENP-Z; CENPZ; ZADT; ZFP276; ZNF276; ZNF477", "protein_names_uniprotkb": "Zinc finger protein 276; Zfp-276; Zinc finger protein 477", "protein_names_refseq": "centromere protein Z; zinc finger protein 276 homolog; zinc finger protein 276 isoform a; zinc finger protein 477; zinc finger, AD-type", "tax_id": 9606, "disease": "", "pathway": " (hsa:92822)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;14605947;20813266;26992070;28834231;28904123;29493099;29557506;29789417;31844290;32157095;32161166;32387766;34171305;34932366;35051231;35580925;36284347;37217939", "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": "Q0VGA1;Q2TBE8;Q3B7H7", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000776 kinetochore", "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": "Q8N554-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZU2-1", "uniprot_id": "WDR17_HUMAN", "mass": 147703.0, "length": 1322, "protein_name": "WD repeat-containing protein 17", "gene_name": "WDR17", "organism": "Human", "refseq_name": "WD repeat-containing protein 17 isoform 1", "refseq_ac": "NP_733828", "gene_names_uniprotkb": "WDR17", "gene_names_refseq": "WDR17", "protein_names_uniprotkb": "WD repeat-containing protein 17", "protein_names_refseq": "WD repeat-containing protein 17 isoform 1; WD repeat-containing protein 17; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:116966)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;12401215;17286855;19727342;23481700;25892735;27846572;27920218;28218747;28228285;28832583;28855257;28904123;29437277;29557506;29769354;30315122;31324691;31844290;32357974;32488085;32502341;33392160;33912179;33968037", "class_list": "", "function": "Cloning and characterization of gene which represents a new member of the WD repeat family abundant in retina and testis, [RefSeq, PubMed]; Strong candidate gene for retinitis pigmentosa, RP29 (human 4q32-q34). Conclusion is based on a massive expression data set for mouse (103 strains) and joint analysis of RetNet database. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E7EQX0;Q0QD35", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8IZU2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TF20-1", "uniprot_id": "ZN721_HUMAN", "mass": 105084.0, "length": 911, "protein_name": "Zinc finger protein 721", "gene_name": "ZNF721", "organism": "Human", "refseq_name": "zinc finger protein 721", "refseq_ac": "NP_597731", "gene_names_uniprotkb": "ZNF721; KIAA1982", "gene_names_refseq": "ZNF721", "protein_names_uniprotkb": "Zinc finger protein 721", "protein_names_refseq": "zinc finger protein 721", "tax_id": 9606, "disease": "", "pathway": " (hsa:170960); (R-HSA-212436)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25418920;25576301;25645385;26992070;27600516;27846572;27920218;28063628;28832583;28834231;28855257;29242379;29393594;29493099;29557506;29632046;29786170;30429286;31154438;31217245;31844290;31848261;32157095;32265295;32387766;32897882;33592498;34932366;35051231;35494241;35561310;35580925;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": 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": "Q69YG7", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding", "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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q8TF20-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y4E6-1", "uniprot_id": "WDR7_HUMAN", "mass": 163810.0, "length": 1490, "protein_name": "WD repeat-containing protein 7", "gene_name": "WDR7", "organism": "Human", "refseq_name": "WD repeat-containing protein 7 isoform 1", "refseq_ac": "NP_056100", "gene_names_uniprotkb": "WDR7; KIAA0541; TRAG", "gene_names_refseq": "TRAG; WDR7", "protein_names_uniprotkb": "WD repeat-containing protein 7; Rabconnectin-3 beta; TGF-beta resistance-associated protein TRAG", "protein_names_refseq": "TGF-beta resistance associated; TGF-beta resistance-associated protein TRAG; WD repeat-containing protein 7 isoform 1; WD repeat-containing protein 7; rabconnectin-3 beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:23335)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "11237011;12786944;18669648;19240061;19651622;20068231;23186163;23481700;24366607;24715725;25418920;25576301;26154972;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;30315122;30379171;30410026;30429286;30524438;30779550;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32750315;32897882;32938616;32983136;33141586;33298915;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34932366;35051231;35251023;35318648;35580925;36010968;37217939;37938771", "class_list": "", "function": "Evolution of a Human-Specific Tandem Repeat Associated with ALS., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [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) that 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. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 35, "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": "A7E2C8;Q86UX5;Q86VP2;Q96PS7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0007035 vacuolar acidification", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q9Y4E6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BSG1-2", "uniprot_id": "ZNF2_HUMAN", "mass": 48707.0, "length": 425, "protein_name": "Zinc finger protein 2", "gene_name": "ZNF2", "organism": "Human", "refseq_name": "zinc finger protein 2 isoform b", "refseq_ac": "NP_001017396", "gene_names_uniprotkb": "ZNF2; ZNF661", "gene_names_refseq": "A1-5; ZNF2; ZNF661; Zfp661", "protein_names_uniprotkb": "Zinc finger protein 2; Zinc finger protein 2.2; Zinc finger protein 661", "protein_names_refseq": "zinc finger protein 2 isoform b; zinc finger protein 2.2; zinc finger protein 661", "tax_id": 9606, "disease": "", "pathway": " (hsa:7549); (R-HSA-212436)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;1945843;2163759;31217245;31844290;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; The protein encoded by this gene belongs to the C2H2-type zinc-finger protein family. The exact function of this gene is not known, however, zinc-finger proteins are known to interact with DNA and function as transcription regulators. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8MWV7;B0AZN8;B4DIR4;Q4ZFY6;Q96G44;Q9UMC5", "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": 1.7, "record_id": "Q9BSG1-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UXN9-1", "uniprot_id": "WDR82_HUMAN", "mass": 35079.0, "length": 313, "protein_name": "WD repeat-containing protein 82", "gene_name": "WDR82", "organism": "Human", "refseq_name": "WD repeat-containing protein 82", "refseq_ac": "NP_079498", "gene_names_uniprotkb": "WDR82; PRO34047; SWD2; TMEM113; WDR82A", "gene_names_refseq": "MST107; MSTP107; PRO2730; PRO34047; SWD2; TMEM113; WDR82A; WDR82", "protein_names_uniprotkb": "WD repeat-containing protein 82", "protein_names_refseq": "WD repeat-containing protein 82; transmembrane protein 113", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:80335); (R-HSA-9772755); (R-HSA-9930044)", "pathway_count": 3, "publication_count": 156, "publication_id_list": "11237011;12393701;12482972;12670868;12975309;14636557;14992727;15199122;16227571;16239140;16253997;16829959;16878130;16892064;17041588;17174896;17355966;17412707;17500065;17612494;17671196;17925232;17998332;18598942;18829457;18829459;18838386;18838538;19103755;19124460;19187761;19556245;20018852;20068231;20516061;20575550;20716525;20961854;21106533;21124902;21131905;21135039;21220120;21705430;21855801;22266653;22327296;22652693;22665483;23508102;23995757;24244196;24368734;24680668;24714562;24715725;25561738;25576301;25578728;25593305;25645385;26154972;26324722;26728094;26886794;26992070;27397612;27434818;27563068;27698142;27760318;27846572;27862975;27871484;27920218;28063628;28121444;28182322;28218747;28228285;28398509;28510447;28649982;28832583;28855257;28904123;29138278;29242379;29298432;29437277;29493099;29557506;29632046;29632711;29786170;29897600;29906447;29937342;30315122;30410026;30429286;30484775;30524438;31154438;31217245;31400120;31485071;31530632;31544921;31844290;31848261;31950173;32157095;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33592498;33633747;33657400;33691108;33717175;33767452;33912179;33913806;33968037;33981976;34012049;34019948;34171305;34357683;34509645;34932366;34933446;35033534;35051231;35190547;35318648;35325203;35439434;35561310;35580925;36010968;36241641;36284347;37030068;37875486;37938771;39603239;39603240", "class_list": "", "function": "Molecular insight into the SETD1A/B N-terminal region and its interaction with WDR82., [RefSeq, PubMed]; Regulatory component of the SET1/COMPASS complex implicated in the tethering of this complex to transcriptional start sites of active genes (PubMed:17998332, PubMed:18838538, PubMed:20516061). Facilitates histone H3 'Lys-4' methylation (H3K4me) via recruitment of the SETD1A or SETD1B to the 'Ser-5' phosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A) (PubMed:17998332, PubMed:18838538). Component of the PNUTS-PP1 protein phosphatase complex, a protein phosphatase 1 (PP1) complex that promotes RNA polymerase II transcription pause-release, allowing transcription elongation (PubMed:39603240, PubMed:39603239). PNUTS-PP1 also plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase (PubMed:20516061). Together with ZC3H4, but independently of the SET1 complex, part of a transcription termination checkpoint that promotes transcription termination of long non-coding RNAs (lncRNAs) (PubMed:33767452, PubMed:33913806). The transcription termination checkpoint is activated by the inefficiently spliced first exon of lncRNAs and promotes transcription termination of lncRNAs and their subsequent degradation by the exosome (PubMed:33767452)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Suggest a model for how the mammalian RNA polymerase II machinery is linked with histone H3-Lys4 histone methyltransferase complexes at transcriptionally active genes, [RefSeq, PubMed]; TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Jul 2010]., [RefSeq]; ZWC complex-mediated SPT5 phosphorylation suppresses divergent antisense RNA transcription at active gene promoters., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5R5;Q8TEB2", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0106222 lncRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0035097 histone methyltransferase complex;GO:0048188 Set1C/COMPASS complex;GO:0072357 PTW/PP1 phosphatase complex", "go_biological_process": "GO:0032785 negative regulation of DNA-templated transcription, elongation;GO:0006353 DNA-templated transcription termination;GO:0001111 RNA polymerase II promoter clearance;GO:0032968 positive regulation of transcription elongation by RNA polymerase II;GO:0071027 nuclear RNA surveillance", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "Q6UXN9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWB7-1", "uniprot_id": "WDFY1_HUMAN", "mass": 46324.0, "length": 410, "protein_name": "WD repeat and FYVE domain-containing protein 1", "gene_name": "WDFY1", "organism": "Human", "refseq_name": "WD repeat and FYVE domain-containing protein 1", "refseq_ac": "NP_065881", "gene_names_uniprotkb": "WDFY1; FENS1; KIAA1435; WDF1; ZFYVE17", "gene_names_refseq": "FENS-1; FENS1; WDF1; WDFY1; ZFYVE17", "protein_names_uniprotkb": "WD repeat and FYVE domain-containing protein 1; FENS-1; FYVE domain-containing protein localized to endosomes 1; Phosphoinositide-binding protein 1; WD40- and FYVE domain-containing protein 1; Zinc finger FYVE domain-containing protein 17", "protein_names_refseq": "FYVE domain-containing protein localized to endosomes 1; WD repeat and FYVE domain-containing protein 1; WD40- and FYVE domain-containing protein 1; phosphoinositide-binding protein SR1; zinc finger FYVE domain-containing protein 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:57590)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "11237011;11739631;19296456;20068231;24714562;24715725;25502872;25576301;25645385;25736436;26154972;27026195;27600516;27846572;27862975;28218747;28832583;29242379;29437277;29508533;29557506;29632711;29786170;30315122;30429286;31217245;31844290;31848261;32157095;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;34211107;34357683;34433824;34509645;35051231;35154160;35251023;35580925;36010968;36241641;36284347;37217939;37938771;38665916", "class_list": "", "function": "NRP2 inhibits WDFY1 transcription by preventing the nuclear localization of a transcription factor, Fetal ALZ50-reactive clone 1 (FAC1). Publication Status: Online-Only, [RefSeq, PubMed]; Positively regulates TLR3- and TLR4-mediated signaling pathways by bridging the interaction between TLR3 or TLR4 and TICAM1. Promotes TLR3/4 ligand-induced activation of transcription factors IRF3 and NF-kappa-B, as well as the production of IFN-beta and inflammatory cytokines (PubMed:25736436)., [UniProtKB, PubMed]; The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]., [RefSeq]; WDFY1 mediates TLR3/TLR4 signaling by recruiting TRIF., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q53S17;Q9H9D5;Q9P2B3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005545 1-phosphatidylinositol binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0034141 positive regulation of toll-like receptor 3 signaling pathway;GO:0034145 positive regulation of toll-like receptor 4 signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q8IWB7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NW82-1", "uniprot_id": "WDR70_HUMAN", "mass": 73201.0, "length": 654, "protein_name": "WD repeat-containing protein 70", "gene_name": "WDR70", "organism": "Human", "refseq_name": "WD repeat-containing protein 70 isoform 1", "refseq_ac": "NP_060504", "gene_names_uniprotkb": "WDR70", "gene_names_refseq": "WDR70", "protein_names_uniprotkb": "WD repeat-containing protein 70", "protein_names_refseq": "WD repeat-containing protein 70 isoform 1; WD repeat-containing protein 70", "tax_id": 9606, "disease": "", "pathway": " (hsa:55100); (R-HSA-72163)", "pathway_count": 2, "publication_count": 150, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;16964243;17081983;17095540;17332742;17606899;18322460;18593880;18767875;19103666;19165350;19413330;19415658;19536130;19608861;19651622;19664994;19690332;20068231;20230923;20423332;20980672;21406692;21536652;2176635;22110043;22365833;22424782;22544926;22959432;22961380;23186163;23222130;23236153;23345524;23481700;24196718;24304693;24448447;24737827;24914973;25218447;25555158;25576301;2558966;25645385;25892735;26375851;26385511;26420826;26969736;26992070;27098497;27377154;27459055;27600516;27683217;27846572;27862975;28062851;28076346;28502770;28510447;28781166;28832583;28904123;29130659;29242379;29301961;29360106;29361316;29437277;29557506;2963332;30315122;30315277;30379171;30429286;30484775;30705154;30728453;30765414;30975767;31154438;31217245;31222486;31409651;31844290;31848261;31937595;32157095;32161166;32179686;32329775;32357974;32387766;32488085;32494006;32897882;32938616;32983136;33141586;33243851;33298915;33392160;33446560;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34301950;34509645;34822310;35051231;35385551;35561310;35580925;36010968;36215666;36284347;36581221;3757028;37682991;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "CRL4(Wdr70) regulates H2B monoubiquitination and facilitates Exo1-dependent DNA repair resection. Publication Status: Online-Only, [RefSeq, PubMed]; Ovarian cancer had different expression of WDR70 and H2B monoubiquitination compared with normal tissue, [RefSeq, PubMed]; Requirement of WDR70 for POLE3-mediated DNA double-strand breaks repair., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9H053", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035861 site of double-strand break", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q9NW82-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PCB0-1", "uniprot_id": "VWA1_HUMAN", "mass": 46804.0, "length": 445, "protein_name": "von Willebrand factor A domain-containing protein 1", "gene_name": "VWA1", "organism": "Human", "refseq_name": "von Willebrand factor A domain-containing protein 1 isoform 1 precursor", "refseq_ac": "NP_073745", "gene_names_uniprotkb": "VWA1", "gene_names_refseq": "HMNMYO; HMNR7; VWA1; WARP", "protein_names_uniprotkb": "von Willebrand factor A domain-containing protein 1", "protein_names_refseq": "von Willebrand factor A domain-containing protein 1 isoform 1 precursor; von Willebrand factor A domain-containing protein 1; von Willebrand factor A domain-related protein", "tax_id": 9606, "disease": "autosomal recessive distal hereditary motor neuronopathy 7 (Disease Ontology:DOID:0081426); motor neuron disease (Disease Ontology:DOID:231)", "pathway": " (hsa:64856); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 91, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;14527666;15126567;15308688;15469690;15485880;15525596;15642270;16407285;17047378;17187823;17249697;17312271;17985932;23584533;2476804;2479552;25576301;25813380;26091039;26213126;27726376;28832583;29242379;29557506;30459171;30779550;31844290;32157095;32350084;33459760;33559681;33592498;33968037;33981976;35051231;35251023;35318648;35580925;36284347;37074911;37938771;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Bi-allelic truncating mutations in VWA1 cause neuromyopathy., [RefSeq, PubMed]; Evolutionary relationship between von Willebrand factor A domain-related protein (WARP), and the fibril-associated collagen with interrupted triple helix (FACIT) and FACIT-like subfamilies of collagens., [RefSeq, PubMed]; Our results reveal the molecular mechanism of collagen-regulated, A1-mediated platelet adhesion enhancement., [RefSeq, PubMed]; Promotes matrix assembly (By similarity). Involved in the organization of skeletal muscles and in the formation of neuromuscular junctions (Probable)., [UniProtKB, UniProtKB, PubMed]; Urea was used as a surrogate for shear to study denaturation of the individual VWF recombinant A domains, A1, A2, and A3, and the domain triplet, A1-A2-A3., [RefSeq, PubMed]; VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010]., [RefSeq]; WARP forms macromolecular structures that interact with perlecan to contribute to the assembly and/or maintenance of 'permanent' cartilage structures during development and in mature cartilages, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 27, "disease_count": 2, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A8K692;B3KUA1;E9PB53;Q7L5D7;Q9H6J5", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0050436 microfibril binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0005604 basement membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q6PCB0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PFW1-1", "uniprot_id": "VIP1_HUMAN", "mass": 159521.0, "length": 1433, "protein_name": "Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1", "gene_name": "PPIP5K1", "organism": "Human", "refseq_name": "inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1 isoform 5", "refseq_ac": "NP_001124330", "gene_names_uniprotkb": "PPIP5K1; HISPPD2A; IP6K; IPS1; KIAA0377; VIP1", "gene_names_refseq": "HISPPD2A; IP6K; IPS1; PPIP5K1; VIP1; hsVIP1", "protein_names_uniprotkb": "Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1; 2.7.4.24; Diphosphoinositol pentakisphosphate kinase 1; Histidine acid phosphatase domain-containing protein 2A; IP6 kinase; Inositol pyrophosphate synthase 1; InsP6 and PP-IP5 kinase 1; VIP1 homolog; hsVIP1", "protein_names_refseq": "IP6 kinase; VIP1 homolog; histidine acid phosphatase domain containing 2A; histidine acid phosphatase domain-containing protein 2A; inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1 isoform 5; inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1; inositol pyrophosphate synthase 1; insP6 and PP-IP5 kinase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9677); (R-HSA-1855167)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10419486;10585413;10777568;10827188;11042108;11237011;11502751;11909533;12084730;12105228;12121577;12825070;16964243;17412958;17690096;17702752;17705785;18220336;18355727;18981179;21222653;22119861;22424782;22869377;23186163;23481700;24275569;25576301;25645385;26154972;26375851;26854614;26992070;27397612;27776974;27846572;28126903;28228285;28411811;28649982;28834231;28904123;29242379;29557506;30315122;30429286;31844290;32157095;32357974;32387766;32502341;32938616;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34171305;34357683;34509645;34561969;35051231;35580925;36284347;9822604", "class_list": "", "function": "Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates inositol hexakisphosphate (InsP6) at position 1 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to produce (PP)2-InsP4. Alternatively, phosphorylates PP-InsP5 at position 1, produced by IP6Ks from InsP6, to produce (PP)2-InsP4. Activated when cells are exposed to hyperosmotic stress., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Bifunctional inositol kinase that acts in concert with the IP6K kinases to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, may regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, and exocytosis. Phosphorylates inositol hexakisphosphate (InsP6)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; PPIP5K is a rare example of a single protein that catalyzes a kinase/phosphatase futile cycle. (Review) Review article, [RefSeq, PubMed]; Results suggest that PPIP5K1 might play an important role in regulating function of exocyst complex in establishing cellular polarity and directional migration of cells, [RefSeq, PubMed]; This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]., [RefSeq]; This study characterized kinetic properties of the bifunctional inositol pyrophosphate 5-diphosphoinositol 1,2,3,4,6-pentakisphosphatekinase/inositol pyrophosphate, 1,5-bisdiphosphoinositol 2,3,4,6-tetrakisphosphate phosphatase activities of full-length diphosphoinositol pentakisphosphate kinase 1 and 2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 2, "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": "O15082;Q5HYF8;Q7Z3A7;Q86TE7;Q86UV3;Q86UV4;Q86XW8;Q8IZN0", "ec_number_list": "2.7.4.24", "go_molecular_function": "GO:0000827 inositol-1,3,4,5,6-pentakisphosphate kinase activity;GO:0000828 inositol hexakisphosphate kinase activity;GO:0000829 diphosphoinositol pentakisphosphate kinase activity;GO:0000832 inositol hexakisphosphate 5-kinase activity;GO:0052723 inositol hexakisphosphate 1-kinase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006020 inositol metabolic process;GO:0043647 inositol phosphate metabolic process;GO:0032958 inositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q6PFW1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6VEQ5-1", "uniprot_id": "WASH2_HUMAN", "mass": 50312.0, "length": 465, "protein_name": "WAS protein family homolog 2", "gene_name": "WASH2P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "WASH2P; FAM39B", "gene_names_refseq": "", "protein_names_uniprotkb": "WAS protein family homolog 2; CXYorf1-like protein on chromosome 2; Protein FAM39B", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 13, "publication_id_list": "10655549;15233989;18159949;25505266;26992070;28467828;29557506;30429286;32502341;32561536;33141586;33392160;33981976", "class_list": "", "function": "Acts as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Involved in endocytic trafficking of EGF. Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration. In T-cells involved in endosome-to-membrane recycling of receptors including T-cell receptor (TCR), CD28 and ITGAL; proposed to be implicated in T-cell proliferation and effector function. In dendritic cells involved in endosome-to-membrane recycling of major histocompatibility complex (MHC) class II probably involving retromer and subsequently allowing antigen sampling, loading and presentation during T-cell activation. Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling. Involved in the exocytosis of MMP14 leading to matrix remodeling during invasive migration and implicating late endosome-to-plasma membrane tubular connections and cooperation with the exocyst complex. Involved in negative regulation of autophagy independently from its role in endosomal sorting by inhibiting BECN1 ubiquitination to inactivate PIK3C3/Vps34 activity (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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:0003779 actin binding;GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0055037 recycling endosome;GO:0031901 early endosome membrane;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0015031 protein transport;GO:0016197 endosomal transport;GO:0034314 Arp2/3 complex-mediated actin nucleation;GO:0034315 regulation of Arp2/3 complex-mediated actin nucleation;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q6VEQ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZS81-1", "uniprot_id": "WDFY4_HUMAN", "mass": 353610.0, "length": 3184, "protein_name": "WD repeat- and FYVE domain-containing protein 4", "gene_name": "WDFY4", "organism": "Human", "refseq_name": "WD repeat- and FYVE domain-containing protein 4 isoform 1", "refseq_ac": "NP_065996", "gene_names_uniprotkb": "WDFY4; C10orf64; KIAA1607", "gene_names_refseq": "C10orf64; WDFY4", "protein_names_uniprotkb": "WD repeat- and FYVE domain-containing protein 4", "protein_names_refseq": "WD repeat- and FYVE domain-containing protein 4 isoform 1; WD repeat- and FYVE domain-containing protein 4", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); primary autosomal dominant microcephaly 18 (Disease Ontology:DOID:0070295); Chediak-Higashi syndrome (Disease Ontology:DOID:2935)", "pathway": " (hsa:57705)", "pathway_count": 1, "publication_count": 95, "publication_id_list": "11237011;15254788;16385451;18519826;21872626;21993680;22424782;22544926;23481700;23783831;24366607;24397554;24714562;24715725;25418920;25502872;25505266;25576301;25880248;25892735;26154972;26375851;26758079;26811146;26929215;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28514659;28649982;28832583;28834231;28904123;29242379;29331962;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30524438;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32162841;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33043033;33141586;33189404;33298915;33392160;33633747;33691108;33717175;33912179;33936100;33968037;34185709;34211107;34357683;34509645;34561969;34932366;35051231;35154160;35188604;35561310;35580925;36010968;36215666;36241641;36284347;36637178", "class_list": "", "function": "Analysis of WDFY4 rs7097397 and PHLDB1 rs7389 polymorphisms in Chinese patients with systemic lupus erythematosus., [RefSeq, PubMed]; BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes., [RefSeq, PubMed]; Clinical trial and genome-wide association 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]; Plays a critical role in the regulation of cDC1-mediated cross-presentation of viral and tumor antigens in dendritic cells. Mechanistically, acts near the plasma membrane and interacts with endosomal membranes to promote endosomal-to-cytosol antigen trafficking. Also plays a role in B-cell survival through regulation of autophagy., [UniProtKB, UniProtKB]; WDFY4 polymorphisms in Chinese patients with anti-MDA5 dermatomyositis is associated with rapid progressive interstitial lung disease., [RefSeq, PubMed]; We identified a variant in WDFY4 that was significantly associated with clinically amyopathic dermatomyositis (CADM). This variant had a cis-splicing quantitative trait locus effect for a truncated WDFY4isoform (tr-WDFY4), with higher expression in the risk allele., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9ZVP2;Q86WZ4;Q8N4A3;Q8TEN7;Q96BE1;Q9H7H8;Q9HCG5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005769 early endosome;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0006914 autophagy;GO:0019882 antigen processing and presentation", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q6ZS81-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N0U8-1", "uniprot_id": "VKORL_HUMAN", "mass": 19836.0, "length": 176, "protein_name": "Vitamin K epoxide reductase complex subunit 1-like protein 1", "gene_name": "VKORC1L1", "organism": "Human", "refseq_name": "vitamin K epoxide reductase complex subunit 1-like protein 1 isoform 2", "refseq_ac": "NP_001271271", "gene_names_uniprotkb": "VKORC1L1", "gene_names_refseq": "VKORC1L1", "protein_names_uniprotkb": "Vitamin K epoxide reductase complex subunit 1-like protein 1; 1.17.4.4; VKORC1-like protein 1", "protein_names_refseq": "VKORC1-like protein 1; vitamin K epoxide reductase complex subunit 1 like 1; vitamin K epoxide reductase complex subunit 1-like protein 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:154807); (R-HSA-6806664)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "11237011;12060134;14765194;14765195;15743920;17996924;20953171;21367861;23919835;23928358;24085302;24532791;25639072;25742604;25874989;27918545;27941861;28228285;28832583;29242379;30315122;31844290;32161166;33912179;34357683;35051231", "class_list": "", "function": "Involved in vitamin K metabolism. Can reduce inactive vitamin K 2,3-epoxide to active vitamin K, and may contribute to vitamin K-mediated protection against oxidative stress. Plays a role in vitamin K-dependent gamma-carboxylation of Glu residues in target proteins., [UniProtKB, PubMed, PubMed, PubMed]; Molecular cloning, [RefSeq, PubMed]; This gene encodes an enzyme important in the vitamin K cycle, which is involved in the carboxylation of glutamate residues present in vitamin K-dependent proteins. The encoded enzyme catalyzes the de-epoxidation of vitamin K 2,3-epoxide. Oxidative stress may upregulate expression of this gene and the encoded protein may protect cells and membrane proteins form oxidative damage. This gene and a related gene (Gene ID: 79001) may have arisen by gene duplication of an ancestral gene. [provided by RefSeq, Oct 2016]., [RefSeq]; VKORC1L1 does not affect the variability of warfarin dose requirement in a Japanese patient population, [RefSeq, PubMed]; VKORC1L1 is responsible for driving vitamin K-mediated intracellular antioxidation pathways critical to cell survival., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B4E222;E7ETM5;Q6AHW9;Q6TEK6", "ec_number_list": "1.17.4.4", "go_molecular_function": "GO:0047057 vitamin-K-epoxide reductase (warfarin-sensitive) activity;GO:0048038 quinone binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0034599 cellular response to oxidative stress;GO:0017187 peptidyl-glutamic acid carboxylation;GO:0042373 vitamin K metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8N0U8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N0Z9-1", "uniprot_id": "VSI10_HUMAN", "mass": 59217.0, "length": 540, "protein_name": "V-set and immunoglobulin domain-containing protein 10", "gene_name": "VSIG10", "organism": "Human", "refseq_name": "V-set and immunoglobulin domain-containing protein 10 precursor", "refseq_ac": "NP_061959", "gene_names_uniprotkb": "VSIG10", "gene_names_refseq": "VSIG10", "protein_names_uniprotkb": "V-set and immunoglobulin domain-containing protein 10", "protein_names_refseq": "V-set and immunoglobulin domain-containing protein 10 precursor; V-set and immunoglobulin domain-containing protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:54621)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18491316;27862975;29769354;32350084;32387766;33717175;34509645;36400179;36581221", "class_list": "", "function": "Genome-wide admixture and association analysis identifies African ancestry-specific risk loci of eosinophilic esophagitis in African Americans., [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 56, "reported_interactions": 0, "missing_score": 9452, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q9NWQ7", "ec_number_list": "", "go_molecular_function": "GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0098609 cell-cell adhesion;GO:0007416 synapse assembly", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8N0Z9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NA23-1", "uniprot_id": "WDR31_HUMAN", "mass": 40840.0, "length": 367, "protein_name": "WD repeat-containing protein 31", "gene_name": "WDR31", "organism": "Human", "refseq_name": "WD repeat-containing protein 31 isoform 1", "refseq_ac": "NP_001012361", "gene_names_uniprotkb": "WDR31", "gene_names_refseq": "WDR31", "protein_names_uniprotkb": "WD repeat-containing protein 31", "protein_names_refseq": "WD repeat-containing protein 31 isoform 1; WD repeat-containing protein 31", "tax_id": 9606, "disease": "", "pathway": " (hsa:114987)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;17975119;19023099;22645359;26992070;29393594;30429286;31844290;31848261;32157095;32938616;33633747;33968037;35318648;36010968;39531497", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, 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 but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q5W0T9;Q96EG8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8NA23-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NEZ3-1", "uniprot_id": "WDR19_HUMAN", "mass": 151581.0, "length": 1342, "protein_name": "WD repeat-containing protein 19", "gene_name": "WDR19", "organism": "Human", "refseq_name": "WD repeat-containing protein 19 isoform 2", "refseq_ac": "NP_001304853", "gene_names_uniprotkb": "WDR19; IFT144; KIAA1638", "gene_names_refseq": "ATD5; CED4; CFAP66; DYF-2; FAP66; IFT144; NPHP13; ORF26; Oseg6; PWDMP; SPGF72; SRTD5; WDR19", "protein_names_uniprotkb": "WD repeat-containing protein 19; Intraflagellar transport 144 homolog", "protein_names_refseq": "WD repeat membrane protein PWDMP; WD repeat-containing protein 19 isoform 2; WD repeat-containing protein 19; intraflagellar transport 144 homolog", "tax_id": 9606, "disease": "Senior-Loken syndrome (Disease Ontology:DOID:0050576); Caroli disease (Disease Ontology:DOID:0050876); ciliopathy (Disease Ontology:DOID:0060340); Senior-Loken syndrome 8 (Disease Ontology:DOID:0061282); spermatogenic failure 72 (Disease Ontology:DOID:0070571); cranioectodermal dysplasia 4 (Disease Ontology:DOID:0080806); asphyxiating thoracic dystrophy 5 (Disease Ontology:DOID:0110089); nephronophthisis 13 (Disease Ontology:DOID:0111121); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:57728); (R-HSA-5610787); (R-HSA-5620924)", "pathway_count": 3, "publication_count": 198, "publication_id_list": "10069812;10966113;11237011;11285270;11375483;12192414;12435627;12795688;12906858;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;18316561;18327258;18364699;18369462;18455992;18832070;18852297;19000668;19112494;19147001;19196978;19223390;19253336;19286674;19365551;19384852;19450523;19549984;19592253;19666503;19720863;19767740;19776033;19805633;19877275;19906846;19948480;19996169;20067783;20154143;20207148;20395968;20412786;20435895;20460306;20526327;20526328;20530210;20844016;20889716;20956384;2105456;21209331;21427764;21695114;21801010;21936775;22007132;22019273;22118932;22231273;22391300;22544926;22922713;22992454;23209152;23332756;23481700;23559409;23683095;23719536;23945166;23990561;24140113;24296415;24302888;24339784;24596149;24616010;24715725;24845016;24863049;24917297;24925320;24952464;25205765;25349261;25443296;25576301;25645385;25860617;25880248;25892735;26154972;26992070;27600516;27862975;27932497;28228285;28832583;28904123;29220510;29242379;29393594;29437277;29557506;29632711;29769354;29786170;30315122;30379171;30410026;30429286;30524438;30779550;31154438;31217245;31844290;31848261;31937595;32157095;32161166;32265295;32323121;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36775821;37938771;39894887;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "As 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 cilia function and/or assembly (PubMed:20889716, PubMed:36775821). Essential for functional IFT-A assembly and ciliary entry of GPCRs (PubMed:20889716, PubMed:36775821). Associates with the BBSome complex to mediate ciliary transport (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19, [RefSeq, PubMed]; Expressed in normal and neoplastic prostate epithelium and is regulated by androgenic hormones., [RefSeq, PubMed]; Mutations in WDR19 gene is associated with Caroli disease., [RefSeq, PubMed]; Overexpression of WDR19 is associated with prostate cancer, [RefSeq, PubMed]; The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]., [RefSeq]; WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "B5MEF2;Q8N5B4;Q9H5S0;Q9HCD4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0031514 motile cilium;GO:0097730 non-motile cilium;GO:0097228 sperm principal piece;GO:0032391 photoreceptor connecting cilium", "go_biological_process": "GO:0060271 cilium assembly;GO:0097499 protein localization to non-motile cilium;GO:1903441 protein localization to ciliary membrane;GO:0035721 intraciliary retrograde transport;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 20.1, "record_id": "Q8NEZ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NI36-1", "uniprot_id": "WDR36_HUMAN", "mass": 99366.0, "length": 895, "protein_name": "WD repeat-containing protein 36", "gene_name": "WDR36", "organism": "Human", "refseq_name": "WD repeat-containing protein 36", "refseq_ac": "NP_644810", "gene_names_uniprotkb": "WDR36", "gene_names_refseq": "GLC1G; TA-WDRP; TAWDRP; UTP21; WDR36", "protein_names_uniprotkb": "WD repeat-containing protein 36; T-cell activation WD repeat-containing protein; TA-WDRP", "protein_names_refseq": "T-cell activation WD repeat protein; T-cell activation WD repeat-containing protein; WD repeat-containing protein 36", "tax_id": 9606, "disease": "open-angle glaucoma (Disease Ontology:DOID:1067); primary open angle glaucoma (Disease Ontology:DOID:1070); glaucoma (Disease Ontology:DOID:1686)", "pathway": " (hsa:134430); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 70, "publication_id_list": "10606270;11081632;11922599;11935223;11978965;12068309;12150911;12417735;15177553;15199136;15677485;16037817;16043514;16381836;16518310;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18172102;18438418;19033376;19106111;19332556;19463982;19564402;19801658;20038530;20047967;20056613;20531386;20798176;20805244;20819938;21036871;21051332;21063389;21097556;22002106;22072790;22190735;22195017;22916032;23186163;23391857;23439679;23482395;2388630;24086612;24424021;24550520;25411247;25525153;25653167;25851604;25969445;26085946;26196125;26237581;27084949;28658128;29104481;34516797;34681019;9211966;9482744;9512526", "class_list": "", "function": "Meta-analysis does not support a significant role of WDR36 in the genetic susceptibility of primary open angle glaucoma or its subtypes., [RefSeq, PubMed]; Our results provided mapping of a novel locus for juvenile-onset primary open angle glaucoma at 5q and excluded coding or splicing junctions mutations within the WDR36 gene. Publication Status: Online-Only, [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. Involved in the nucleolar processing of SSU 18S rRNA (PubMed:21051332, PubMed:34516797). Involved in T-cell activation and highly coregulated with IL2 (PubMed:15177553)., [UniProtKB, PubMed, PubMed, PubMed]; Role in etiology of both high- and low-pressure glaucoma. GeneRIF: First series of WDR36 mutations in subjects with high- and low-pressure adult-onset primary open angle glaucoma. First mRNA expression profiling of this gene in various ocular and non-ocular tissues for human and mouse., [RefSeq, PubMed]; Study suggests that WDR36 gene is involved in the pathogenesis of juvenile open-angle glaucoma in Taiwan population as a subordinate modifier gene. Publication Status: Online-Only, [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. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]., [RefSeq]; WDR36-Associated Neurodegeneration: A Case Report Highlights Possible Mechanisms of Normal Tension Glaucoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MTB8;A2RUS4;Q68E02;Q8N1Q2", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0034388 Pwp2p-containing subcomplex of 90S preribosome;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:0007601 visual perception;GO:0006364 rRNA processing;GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q8NI36-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TAF3-1", "uniprot_id": "WDR48_HUMAN", "mass": 76210.0, "length": 677, "protein_name": "WD repeat-containing protein 48", "gene_name": "WDR48", "organism": "Human", "refseq_name": "WD repeat-containing protein 48 isoform 2", "refseq_ac": "NP_001290331", "gene_names_uniprotkb": "WDR48; KIAA1449; UAF1", "gene_names_refseq": "Bun62; P80; SPG60; UAF1; WDR48", "protein_names_uniprotkb": "WD repeat-containing protein 48; USP1-associated factor 1; WD repeat endosomal protein; p80", "protein_names_refseq": "USP1 associated factor 1; WD repeat endosomal protein; WD repeat-containing protein 48 isoform 2; WD repeat-containing protein 48; testicular tissue protein Li 224", "tax_id": 9606, "disease": "", "pathway": " (hsa:57599); (R-HSA-110314); (R-HSA-5689880); (R-HSA-6783310); (R-HSA-9673766)", "pathway_count": 5, "publication_count": 197, "publication_id_list": "10444327;10982817;11237011;11239454;11566882;11923872;12196293;12226657;12660384;12885920;12917689;12917691;14556779;14661020;15053880;15572677;15916957;15916963;16214042;16531995;16690743;16901786;16916645;16943440;16964248;17289582;17290220;17412408;17443180;17460694;17720710;17873522;17938197;17980597;17981138;18032488;18082604;18172164;18174376;18342608;18467330;18632802;18636086;18931676;19015242;19075014;19111657;19135894;19188362;19210352;19363159;19398555;19424180;19561358;19589784;19596236;19608861;19838211;19874889;19910467;19995904;20085582;20096447;20102227;20129063;20147293;20228808;20347428;20347429;20368735;20385554;20501646;20603015;20603016;20603073;20670894;20671156;20889717;21136679;21239494;21362556;21464321;21571647;21596315;21659512;21701511;21764741;21849505;21962518;22029577;22085928;22128162;22216260;22258451;22287633;22396592;22510687;22692201;22778262;23000965;23159851;23325218;23395819;23481700;23486064;23698467;23723247;23824326;23825189;24056413;24076221;24145035;24260525;24275569;24389026;24482476;24493797;24623813;24715725;24726325;24768535;24896179;24905007;25197364;25305019;25418920;25430771;25500724;25576301;25578727;25645385;25855980;26024233;26154972;26375851;26388029;26992070;27170215;27239033;27373336;27463890;27600516;27650958;27862975;28010895;28904123;29437277;29485866;29493099;29557506;30315122;30379171;30410026;30429286;30779550;30833945;31092671;31154438;31217245;31253762;31844045;31844290;31848261;31998317;32157095;32161166;32350107;32373127;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33691108;33717175;33844468;33936100;33968037;34171305;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37289831;37938771;38054892;7578059", "class_list": "", "function": "(Microbial infection) In case of infection by Herpesvirus saimiri, may play a role in vesicular transport or membrane fusion events necessary for transport to lysosomes. Induces lysosomal vesicle formation via interaction with Herpesvirus saimiri tyrosine kinase-interacting protein (TIP). Subsequently, TIP recruits tyrosine-protein kinase LCK, resulting in down-regulation of T-cell antigen receptor TCR. May play a role in generation of enlarged endosomal vesicles via interaction with TIP (PubMed:12196293). In case of infection by papillomavirus HPV11, promotes the maintenance of the viral genome via its interaction with HPV11 helicase E1 (PubMed:18032488)., [UniProtKB, PubMed, PubMed]; Regulator of deubiquitinating complexes, which acts as a strong activator of USP1, USP12 and USP46 (PubMed:18082604, PubMed:19075014, PubMed:26388029, PubMed:31253762). Enhances the USP1-mediated deubiquitination of FANCD2; USP1 being almost inactive by itself (PubMed:18082604, PubMed:31253762). Activates deubiquitination by increasing the catalytic turnover without increasing the affinity of deubiquitinating enzymes for the substrate (PubMed:19075014, PubMed:27373336). Also activates deubiquitinating activity of complexes containing USP12 (PubMed:19075014, PubMed:27373336, PubMed:27650958). In complex with USP12, acts as a potential tumor suppressor by positively regulating PHLPP1 stability (PubMed:24145035). Docks at the distal end of the USP12 fingers domain and induces a cascade of structural changes leading to the activation of the enzyme (PubMed:27373336, PubMed:27650958). Together with RAD51AP1, promotes DNA repair by stimulating RAD51-mediated homologous recombination (PubMed:27239033, PubMed:27463890, PubMed:32350107). Binds single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) (PubMed:27239033, PubMed:31253762, PubMed:32350107). DNA-binding is required both for USP1-mediated deubiquitination of FANCD2 and stimulation of RAD51-mediated homologous recombination: both WDR48/UAF1 and RAD51AP1 have coordinated role in DNA-binding during these processes (PubMed:31253762, PubMed:32350107). Together with ATAD5 and by regulating USP1 activity, has a role in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA (PubMed:20147293). Together with ATAD5, has a role in recruiting RAD51 to stalled forks during replication stress (PubMed:31844045)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The UAF1-USP1 Deubiquitinase Complex Stabilizes cGAS and Facilitates Antiviral Responses., [RefSeq, PubMed]; The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. [provided by RefSeq, Sep 2016]., [RefSeq]; These findings suggest that the interaction of human papillomavirus 11 and 31 E1 proteins with p80 is required for efficient maintenance of the viral episome in undifferentiated keratinocytes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 23, "reported_glycation": 0, "reported_snv": 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": "B4DM86;B4DQI2;B4DY84;Q63HJ2;Q658Y1;Q8N3Z1;Q9NSK8;Q9P279", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003690 double-stranded DNA binding;GO:0043130 ubiquitin binding;GO:0003697 single-stranded DNA binding;GO:0035800 deubiquitinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006974 DNA damage response;GO:0046427 positive regulation of receptor signaling pathway via JAK-STAT;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0000724 double-strand break repair via homologous recombination;GO:1905168 positive regulation of double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 20.0, "record_id": "Q8TAF3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TAG5-1", "uniprot_id": "VTM2A_HUMAN", "mass": 25833.0, "length": 236, "protein_name": "V-set and transmembrane domain-containing protein 2A", "gene_name": "VSTM2A", "organism": "Human", "refseq_name": "V-set and transmembrane domain-containing protein 2A isoform 3 precursor", "refseq_ac": "NP_001304772", "gene_names_uniprotkb": "VSTM2A; VSTM2", "gene_names_refseq": "VSTM2A; VSTM2", "protein_names_uniprotkb": "V-set and transmembrane domain-containing protein 2A", "protein_names_refseq": "V-set and transmembrane domain containing 2; V-set and transmembrane domain-containing protein 2A isoform 3 precursor; V-set and transmembrane domain-containing protein 2A; hypothetical protein MGC33530", "tax_id": 9606, "disease": "", "pathway": " (hsa:222008)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;28052263;29557506;30285995;31588233;33392160;38124011", "class_list": "", "function": "Gene of the month: VSTM2A. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the regulation of the early stage of white and brown preadipocyte cell differentiation. Promotes adipogenic commitment of preadipocytes by increasing gene expression of the transcription factor PPARG in a BMP4-dependent signaling pathway., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; VSTM2A is produced to preserve and amplify the adipogenic capability of adipose precursors., [RefSeq, PubMed]; VSTM2A overexpression to be a sensitive and specific marker for mucinous tubular and spindle cell carcinoma of the kidney., [RefSeq, PubMed]; VSTM2A suppresses colorectal cancer and antagonizes Wnt signaling receptor LRP6. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D2E9;B5MC94", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0016020 membrane", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0030154 cell differentiation;GO:0010884 positive regulation of lipid storage;GO:0071773 cellular response to BMP stimulus;GO:0090336 positive regulation of brown fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8TAG5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1Z4-1", "uniprot_id": "WDR13_HUMAN", "mass": 53715.0, "length": 485, "protein_name": "WD repeat-containing protein 13", "gene_name": "WDR13", "organism": "Human", "refseq_name": "WD repeat-containing protein 13 isoform 2", "refseq_ac": "NP_001159898", "gene_names_uniprotkb": "WDR13", "gene_names_refseq": "MG21; WDR13", "protein_names_uniprotkb": "WD repeat-containing protein 13", "protein_names_refseq": "WD repeat-containing protein 13 isoform 2; WD repeat-containing protein 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:64743)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;12659815;18691976;19651622;20112406;23186163;24129315;25892735;28218747;28228285;28514659;28657654;28832583;29393594;29632046;29769354;30315122;31154438;31530632;32161166;32938750;34946860;35254053;36581221;37938771;40596516", "class_list": "", "function": "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. A similar protein in mouse is thought to be a negative regulator of the pancreatic beta cell proliferation. Mice lacking this gene exhibit increased pancreatic islet mass and higher serum insulin levels, and are mildly obese. [provided by RefSeq, Nov 2016]., [RefSeq]; WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability. 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": 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": "Q06DW8;Q06DX0;Q06DX1;Q9BUL7;Q9NWW4", "ec_number_list": "", "go_molecular_function": "GO:1990841 promoter-specific chromatin binding", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9H1Z4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H598-1", "uniprot_id": "VIAAT_HUMAN", "mass": 57415.0, "length": 525, "protein_name": "Vesicular inhibitory amino acid transporter", "gene_name": "SLC32A1", "organism": "Human", "refseq_name": "vesicular inhibitory amino acid transporter", "refseq_ac": "NP_542119", "gene_names_uniprotkb": "SLC32A1; VGAT; VIAAT", "gene_names_refseq": "DEE114; GEFSP12; SLC32A1; VGAT; VIAAT GEFSP12; VIAAT", "protein_names_uniprotkb": "Vesicular inhibitory amino acid transporter; GABA and glycine transporter; Solute carrier family 32 member 1; Vesicular GABA transporter; hVIAAT", "protein_names_refseq": "GABA and glycine transporter; hVIAAT; solute carrier family 32 (GABA vesicular transporter), member 1; vesicular GABA transporter; vesicular inhibitory amino acid transporter", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 114 (Disease Ontology:DOID:0051086); generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); alcohol use disorder (Disease Ontology:DOID:1574); temporal lobe epilepsy (Disease Ontology:DOID:3328); generalized epilepsy with febrile seizures plus, type 12 (MONDO:MONDO:0958324)", "pathway": " (hsa:140679); (R-HSA-442660); (R-HSA-888590)", "pathway_count": 3, "publication_count": 44, "publication_id_list": "10446133;10684912;10889531;10973981;11017172;11698620;11897791;12031963;12115694;12151341;12750892;15286787;15286788;15592994;15632147;16226721;16722236;16751771;17502375;17726476;18599538;19375301;2008212;21396926;22510271;2387399;24715725;28254787;28657654;29557506;30379171;31844290;32350084;33392160;34038384;35051231;35580925;36073542;7651355;7874447;8125921;8183239;8632143;9845349", "class_list": "", "function": "Antiporter that exchanges vesicular protons for cytosolic 4-aminobutanoate or to a lesser extend glycine, thus allowing their secretion from nerve terminals. The transport is equally dependent on the chemical and electrical components of the proton gradient (By similarity). May also transport beta-alanine (By similarity). Acidification of GABAergic synaptic vesicles is a prerequisite for 4-aminobutanoate uptake (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus., [RefSeq, PubMed]; Data indicate that GABAergic axons were labeled with vesicular inhibitory aa transporter (VIAAT) antibodies, whereas glutamatergic axons were detected with antisera against the major vesicular glutamate transporter (VGLUT) isoforms, VGLUT1 and VGLUT2., [RefSeq, PubMed]; The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]., [RefSeq]; VIATT has been identified in horizontal cells of the adult outer retina in culture, either at their terminals or throughout the entire cell., [RefSeq, PubMed]; We examined the ratio of excitatory to inhibitory vesicular neurotransmitter transporter mRNAs (VGluT1 to VGAT) and their ratio in the dorsolateral prefrontal cortex during normal human development and in people with schizophrenia Erratum:[Brain Res. 2011 Jul 21;1402:132. Weicker, Cynthia Shannon [corrected to Weickert, Cynthia Shannon]], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8N489", "ec_number_list": "", "go_molecular_function": "GO:0015187 glycine transmembrane transporter activity;GO:0015495 gamma-aminobutyric acid:proton symporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0015185 gamma-aminobutyric acid transmembrane transporter activity;GO:0140799 glycine:proton antiporter activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0051286 cell tip;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030425 dendrite", "go_biological_process": "GO:0015816 glycine transport;GO:0021766 hippocampus development;GO:0007269 neurotransmitter secretion;GO:0015812 gamma-aminobutyric acid transport;GO:0051939 gamma-aminobutyric acid import", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9H598-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H6Y2-1", "uniprot_id": "WDR55_HUMAN", "mass": 42070.0, "length": 383, "protein_name": "WD repeat-containing protein 55", "gene_name": "WDR55", "organism": "Human", "refseq_name": "WD repeat-containing protein 55 isoform X1", "refseq_ac": "XP_005268526", "gene_names_uniprotkb": "WDR55", "gene_names_refseq": "WDR55", "protein_names_uniprotkb": "WD repeat-containing protein 55", "protein_names_refseq": "WD repeat-containing protein 55 isoform X1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54853)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;18452278;18669648;19415658;19651622;19690332;19691289;20068231;20166139;23186163;23301498;23481700;27920218;28904123;29242379;29557506;29632711;31154438;31530632;31844290;31848261;32157095;32161166;32938616;33298915;33968037;34171305;35051231;40914422", "class_list": "", "function": "Nucleolar protein that acts as a modulator of rRNA synthesis. Plays a central role during organogenesis (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NXK4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9H6Y2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UNX4-1", "uniprot_id": "WDR3_HUMAN", "mass": 106099.0, "length": 943, "protein_name": "WD repeat-containing protein 3", "gene_name": "WDR3", "organism": "Human", "refseq_name": "WD repeat-containing protein 3", "refseq_ac": "NP_006775", "gene_names_uniprotkb": "WDR3", "gene_names_refseq": "DIP2; UTP12; WDR3", "protein_names_uniprotkb": "WD repeat-containing protein 3", "protein_names_refseq": "WD repeat-containing protein 3; dJ776P7.2 (WD repeat domain 3)", "tax_id": 9606, "disease": "papillary thyroid carcinoma (Disease Ontology:DOID:3969)", "pathway": " (hsa:10885); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 170, "publication_id_list": "10395803;10606270;11081632;11922599;11935223;11978965;12068309;12150911;12417735;12429849;15199136;16037817;16043514;16381836;16565220;16738141;16782898;17081983;17189298;17353269;17412707;17636026;18065403;18438418;18452278;18669648;19033376;19106111;19332556;19413330;19415658;19463982;19564402;19651622;19664995;19801658;20038530;20047967;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22544926;22645359;22898188;22916032;23186163;23391857;23439679;23481700;23482395;2388630;24086612;24366607;24397554;24424021;24550520;24714562;24715725;25411247;25525153;25576301;25645385;25653167;25851604;25892735;25969445;26024233;26085946;26154972;26196125;26237581;26375851;26728094;26758079;26768311;26811146;26992070;27084949;27600516;27846572;27862975;27893789;27920218;28218747;28228285;28446606;28514659;28832583;28834231;28904123;29242379;29309433;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33648545;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34105348;34171305;34185709;34211107;34405274;34509645;34516797;34725712;34932366;35051231;35251023;35561310;35580925;36010968;36215666;36241641;36284347;36905106;37938771;9211966;9482744;9512526", "class_list": "", "function": "Evaluated the genetic association of WDR3 and ALG1 in schizophrenia. We examined 21 single nucleotide polymorphisms [SNPs; W1 (rs1812607)-W16 (rs6656360), A1 (rs8053916)-A10 (rs9673733)] from these genes using the Japanese case-control sample (1,808 schizophrenics and 2,170 matched controls). No significant genetic associations of these SNPs were identified. However, we detected a significant association of W4 (rs319471) Publication Status: Online-Only, [RefSeq, PubMed]; Overexpressed WDR3 induces the activation of Hippo pathway by interacting with GATA4 in pancreatic cancer. Publication Status: Online-Only, [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., [UniProtKB, PubMed]; This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]., [RefSeq]; WDR3 promotes stem cell-like properties in prostate cancer by inhibiting USF2-mediated transcription of RASSF1A., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0030515 snoRNA binding", "go_cellular_component": "GO:0034388 Pwp2p-containing subcomplex of 90S preribosome;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 17.5, "record_id": "Q9UNX4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y4E1-7", "uniprot_id": "WAC2C_HUMAN", "mass": 147154.0, "length": 1341, "protein_name": "WASH complex subunit 2C", "gene_name": "WASHC2C", "organism": "Human", "refseq_name": "WASH complex subunit 2C isoform 2", "refseq_ac": "NP_001162577", "gene_names_uniprotkb": "WASHC2C; FAM21C; KIAA0592; VPEF", "gene_names_refseq": "FAM21A; FAM21C; VPEF; WASHC2C", "protein_names_uniprotkb": "WASH complex subunit 2C; VPEF; Vaccinia virus penetration factor", "protein_names_refseq": "Vaccinia Penetration Factor; WASH complex subunit 2C isoform 2; WASH complex subunit FAM21C; family with sequence similarity 21 member C; vaccinia virus penetration factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:253725)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "18550675;18669648;19690332;19922874;19922875;20068231;20498093;21406692;22070227;22513087;23186163;23301498;23331060;23481700;24275569;24980502;25278552;25355947;25431135;25576301;25892735;26375851;27920218;28218747;28832583;28892079;29084197;29242379;29393594;29508533;29632711;30315122;30784271;30833945;31154438;31530632;31848261;31937595;31998317;32161166;39302247", "class_list": "", "function": "(Microbial infection) Plays a role in fluid-phase endocytosis, a process exploited by vaccinia intracellular mature virus (IMV) to enter cells. As a result, may facilitate the penetration of IMV into cells., [UniProtKB, PubMed]; A cellular factor, VPEF, is exploited by vaccinia virus for cell entry through fluid phase endocytosis when vaccinia virus enters HeLa cells, [RefSeq, PubMed]; Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission (PubMed:19922874, PubMed:20498093, PubMed:22513087, PubMed:23331060). Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552). Required for the association of DNAJC13, ENTR1, ANKRD50 with retromer CSC subunit VPS35 (PubMed:24980502). Required for the endosomal recruitment of CCC and retriever complexes subunits COMMD1 and CCDC93 as well as the retrievere complex subunit VPS35L (PubMed:25355947, PubMed:28892079)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; FAM21 not only functions as an integral component of the cytoplasmic WASH complex, but also modulates NF-kappaB gene transcription in the nucleus., [RefSeq, PubMed]; WASH exists in a multiprotein complex containing FAM21, which links WASH to endosomes and is required for WASH-dependent retromer-mediated sorting., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "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": "A0A096LPC5;B4DZQ6;B9EK53;F5H0J6;F5H871;Q5SQU4;Q5SQU5;Q7L521;Q9UG79", "ec_number_list": "", "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:1900024 regulation of substrate adhesion-dependent cell spreading;GO:0015031 protein transport;GO:0016197 endosomal transport;GO:0036010 protein localization to endosome;GO:0034315 regulation of Arp2/3 complex-mediated actin nucleation", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9Y4E1-7", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6F9-1", "uniprot_id": "WNT6_HUMAN", "mass": 39721.0, "length": 365, "protein_name": "Protein Wnt-6", "gene_name": "WNT6", "organism": "Human", "refseq_name": "protein Wnt-6 precursor", "refseq_ac": "NP_006513", "gene_names_uniprotkb": "WNT6", "gene_names_refseq": "WNT6", "protein_names_uniprotkb": "Protein Wnt-6", "protein_names_refseq": "protein Wnt-6 precursor; protein Wnt-6; wingless-type MMTV integration site family, member 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:7475); (R-HSA-3238698); (R-HSA-373080)", "pathway_count": 3, "publication_count": 82, "publication_id_list": "10.1101/2023.09.13.557529;10097073;10343101;10694878;11031247;11231171;11297558;11350055;11433298;12098667;12559132;12717451;15498814;16364628;16602827;16645052;16678095;16678096;17108000;17117926;17141155;17397399;18160347;18160348;18193032;18193037;18430724;18801728;19442504;19566487;19619488;19837038;20477987;20533886;20826466;20966082;21554866;21725318;21725319;21768372;21886182;22027831;22041890;22046319;22094269;22094272;22108505;22370641;22653731;22784633;22888000;22952392;22983114;23148298;23260141;28904123;29632046;31844290;31848261;32387766;34686698;35051231;35300692;35691114;36075327;3616618;37566620;6950381;7797535;8082781;8167409;8198617;8262072;8386612;8397094;8557170;8612563;8732687;8770894;8906787;8985181;9064337", "class_list": "", "function": "Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Together with CAV1 may promote chemoresistance of gastric cancer cells to DNA-damaging anthracycline drugs through the activation of the canonical Wnt receptor signaling pathway., [UniProtKB, 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 is overexpressed in cervical cancer cell line and strongly coexpressed with another family member, WNT10A, in colorectal cancer cell line. The gene overexpression may play key roles in carcinogenesis. This gene and the WNT10A gene are clustered in the chromosome 2q35 region. The protein encoded by this gene is 97% identical to the mouse Wnt6 protein at the amino acid level. [provided by RefSeq, Jul 2008]., [RefSeq]; The glycoprotein Wnt6 regulates human dental papilla cells differentiation by canonical Wnt signaling pathway., [RefSeq, PubMed]; The investigation of WNT6 and WNT10A single nucleotide polymorphisms as potential biomarkers for dental pulp calcification in orthodontic patients. Erratum:[PLoS One. 2024 Jun 6;19(6):e0305377. doi: 10.1371/journal.pone.0305377. PMID: 38843152] Publication Status: Online-Only, [RefSeq, PubMed]; WNT6 participates in the occurrence and development of ovarian cancer by upregulating/activating the typical Wnt pathway and Notch1 signaling pathway., [RefSeq, PubMed]; Wnt4, Wnt6 and beta-catenin expression in human placental tissue - is there a link with first trimester miscarriage? Results from a pilot study. Publication Status: Online-Only, [RefSeq, PubMed]; Wnt6 plays a complex role in maintaining human limbal stem/progenitor cells. 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": 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": 16, "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": "Q9H1J6;Q9H238", "ec_number_list": "", "go_molecular_function": "GO:0005109 frizzled binding;GO:0005125 cytokine 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:0010628 positive regulation of gene expression;GO:0071300 cellular response to retinoic acid;GO:0030182 neuron differentiation;GO:0042475 odontogenesis of dentin-containing tooth;GO:0060070 canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q9Y6F9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MQ14-1", "uniprot_id": "ZN850_HUMAN", "mass": 125431.0, "length": 1090, "protein_name": "Zinc finger protein 850", "gene_name": "ZNF850", "organism": "Human", "refseq_name": "zinc finger protein 850 isoform 1", "refseq_ac": "NP_001180481", "gene_names_uniprotkb": "ZNF850", "gene_names_refseq": "ZNF850P; ZNF850", "protein_names_uniprotkb": "Zinc finger protein 850", "protein_names_refseq": "putative zinc finger protein ENSP00000330994; zinc finger protein 850 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:342892)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "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": 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:0000976 transcription cis-regulatory region binding;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0001701 in utero embryonic development;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": 0.2, "record_id": "A8MQ14-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8K554-1", "uniprot_id": "ZN815_HUMAN", "mass": 15437.0, "length": 130, "protein_name": "Putative protein ZNF815", "gene_name": "ZNF815P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ZNF815P; ZNF815", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein ZNF815", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "30410026;33912179", "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": "A8K554-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N972-1", "uniprot_id": "ZN709_HUMAN", "mass": 74652.0, "length": 641, "protein_name": "Zinc finger protein 709", "gene_name": "ZNF709", "organism": "Human", "refseq_name": "zinc finger protein 709", "refseq_ac": "NP_689814", "gene_names_uniprotkb": "ZNF709", "gene_names_refseq": "ZNF709", "protein_names_uniprotkb": "Zinc finger protein 709", "protein_names_refseq": "zinc finger protein 709", "tax_id": 9606, "disease": "", "pathway": " (hsa:163051); (R-HSA-212436)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26992070;29557506;30379171;31217245;31844290;32157095;32897882;32983136;35580925;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": 13, "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": "A8K4E6", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8N972-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96JF6-1", "uniprot_id": "ZN594_HUMAN", "mass": 93907.0, "length": 807, "protein_name": "Zinc finger protein 594", "gene_name": "ZNF594", "organism": "Human", "refseq_name": "zinc finger protein 594", "refseq_ac": "NP_115919", "gene_names_uniprotkb": "ZNF594; KIAA1871", "gene_names_refseq": "ZNF594", "protein_names_uniprotkb": "Zinc finger protein 594; Zinc finger protein HZF18", "protein_names_refseq": "zinc finger protein 594; zinc finger protein HZF18", "tax_id": 9606, "disease": "", "pathway": " (hsa:84622)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;28832583;29242379;29393594;29557506;30379171;31844290;32983136;33392160;35254053;7865130", "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": 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": "Q6RFS0", "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", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q96JF6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96B54-1", "uniprot_id": "ZN428_HUMAN", "mass": 20481.0, "length": 188, "protein_name": "Zinc finger protein 428", "gene_name": "ZNF428", "organism": "Human", "refseq_name": "zinc finger protein 428", "refseq_ac": "NP_872304", "gene_names_uniprotkb": "ZNF428; C19orf37", "gene_names_refseq": "C19orf37; ZNF428; Zfp428", "protein_names_uniprotkb": "Zinc finger protein 428; Enzyme-like protein PIT13", "protein_names_refseq": "enzyme-like protein PIT13; zinc finger protein 428", "tax_id": 9606, "disease": "", "pathway": " (hsa:126299)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;18669648;23186163;23481700;24715725;25645385;25880248;26154972;26992070;27600516;27920218;28832583;28834231;29242379;29508533;29557506;29632711;30429286;31154438;31530632;31844290;32157095;32357974;32488085;32502341;32938616;32983136;33592498;33717175;33968037;33981976;34211107;34932366;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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "O95054;Q6X3Y3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q96B54-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZNA1-1", "uniprot_id": "ZN836_HUMAN", "mass": 107717.0, "length": 936, "protein_name": "Zinc finger protein 836", "gene_name": "ZNF836", "organism": "Human", "refseq_name": "zinc finger protein 836", "refseq_ac": "NP_001096127", "gene_names_uniprotkb": "ZNF836", "gene_names_refseq": "ZNF836", "protein_names_uniprotkb": "Zinc finger protein 836", "protein_names_refseq": "zinc finger protein 836", "tax_id": 9606, "disease": "", "pathway": " (hsa:162962)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;25892735;27862975;28832583;29769354;31217245;31844290;36581221", "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": "", "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:0005730 nucleolus;GO:0015630 microtubule cytoskeleton", "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": 0.9, "record_id": "Q6ZNA1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CJ79-1", "uniprot_id": "ZN888_HUMAN", "mass": 83549.0, "length": 718, "protein_name": "Zinc finger protein 888", "gene_name": "ZNF888", "organism": "Human", "refseq_name": "zinc finger protein 888 isoform b", "refseq_ac": "NP_001297056", "gene_names_uniprotkb": "ZNF888", "gene_names_refseq": "ZNF888", "protein_names_uniprotkb": "Zinc finger protein 888", "protein_names_refseq": "CTD-2331H12.6; zinc finger protein 888 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:388559)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "25576301;26992070;30379171;35580925;38665916", "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": 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": "A0A1W2PQ69", "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:0022603 regulation of anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P0CJ79-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P17017-1", "uniprot_id": "ZNF14_HUMAN", "mass": 75353.0, "length": 642, "protein_name": "Zinc finger protein 14", "gene_name": "ZNF14", "organism": "Human", "refseq_name": "zinc finger protein 14", "refseq_ac": "NP_066358", "gene_names_uniprotkb": "ZNF14; GIOT4; KOX6", "gene_names_refseq": "GIOT-4; KOX6; ZNF14", "protein_names_uniprotkb": "Zinc finger protein 14; GIOT-4; Gonadotropin-inducible ovary transcription repressor 4; Zinc finger protein KOX6", "protein_names_refseq": "gonadotropin inducible transcription repressor-4; gonadotropin-inducible ovary transcription repressor 4; zinc finger protein 14 (KOX 6); zinc finger protein 14; zinc finger protein KOX6", "tax_id": 9606, "disease": "", "pathway": " (hsa:7561); (R-HSA-212436)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;2288909;28832583;29242379;29786170;30379171;30429286;31217245;31844290;32897882;32983136;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; The protein encoded by this gene contains a zinc finger and a Kruppel-associated box (KRAB) domain. KRAB domain is known to be involved in the transcriptional repression of a number of zinc finger proteins. [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": 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": "B9EGA4;Q9ULZ5", "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": 2.6, "record_id": "P17017-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P17026-1", "uniprot_id": "ZNF22_HUMAN", "mass": 25915.0, "length": 224, "protein_name": "Zinc finger protein 22", "gene_name": "ZNF22", "organism": "Human", "refseq_name": "zinc finger protein 22", "refseq_ac": "NP_008894", "gene_names_uniprotkb": "ZNF22; KOX15; KROX26", "gene_names_refseq": "HKR-T1; KOX15; ZNF22; ZNF422; Zfp422", "protein_names_uniprotkb": "Zinc finger protein 22; Zinc finger protein KOX15; Zinc finger protein Krox-26", "protein_names_refseq": "krox-26 protein; zinc finger protein 22 (KOX 15); zinc finger protein 22; zinc finger protein KOX15; zinc finger protein Krox-26", "tax_id": 9606, "disease": "", "pathway": " (hsa:7570)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "1421376;14630903;16959974;1946370;22645359;2288909;24275569;25576301;26024233;26992070;27920218;28063628;28832583;29242379;29493099;29557506;29632046;29786170;30315122;30410026;30429286;30524438;31154438;31217245;31844290;31848261;32265295;32387766;32938616;33633747;35580925", "class_list": "", "function": "Binds DNA through the consensus sequence 5'-CAATG-3'. May be involved in transcriptional regulation and may play a role in tooth formation (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": 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": "Q5T741;Q96FM4", "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:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0042476 odontogenesis;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "P17026-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3KNS6-1", "uniprot_id": "ZN829_HUMAN", "mass": 50142.0, "length": 432, "protein_name": "Zinc finger protein 829", "gene_name": "ZNF829", "organism": "Human", "refseq_name": "zinc finger protein 829 isoform 2", "refseq_ac": "NP_001032309", "gene_names_uniprotkb": "ZNF829", "gene_names_refseq": "ZNF829", "protein_names_uniprotkb": "Zinc finger protein 829", "protein_names_refseq": "zinc finger protein 829 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:374899)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "18077418;25505266;25576301;25645385;28832583;29242379;29557506;31154438;31844290;32157095;33592498", "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": 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": "A0A075B6T0;Q3KNS7;Q6ZNN0;Q7Z657", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q3KNS6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5CZA5-1", "uniprot_id": "ZN805_HUMAN", "mass": 71143.0, "length": 627, "protein_name": "Zinc finger protein 805", "gene_name": "ZNF805", "organism": "Human", "refseq_name": "zinc finger protein 805 isoform 1", "refseq_ac": "NP_001018857", "gene_names_uniprotkb": "ZNF805", "gene_names_refseq": "ZNF805", "protein_names_uniprotkb": "Zinc finger protein 805", "protein_names_refseq": "CTC-444N24.8; zinc finger protein 805 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:390980)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "25576301;26375851;26992070;27862975;28832583;28855257;28904123;29242379;29557506;30429286;31154438;31217245;31844290;31848261;31998317;32157095;32983136;33592498;33691108;33936100;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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B4DNM5", "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": 2.3, "record_id": "Q5CZA5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5JPB2-1", "uniprot_id": "ZN831_HUMAN", "mass": 177949.0, "length": 1677, "protein_name": "Zinc finger protein 831", "gene_name": "ZNF831", "organism": "Human", "refseq_name": "zinc finger protein 831", "refseq_ac": "NP_848552", "gene_names_uniprotkb": "ZNF831; C20orf174", "gene_names_refseq": "C20orf174; ZNF831", "protein_names_uniprotkb": "Zinc finger protein 831", "protein_names_refseq": "zinc finger protein 831", "tax_id": 9606, "disease": "", "pathway": " (hsa:128611)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "23033978;25576301;28832583;29242379;29351928;29393594;29493099;29632711;30379171;31217245;32983136;33298915;35051231;36215666", "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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 136, "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": "Q5TDR4;Q8TCP0", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q5JPB2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TEC3-1", "uniprot_id": "ZN697_HUMAN", "mass": 60461.0, "length": 545, "protein_name": "Zinc finger protein 697", "gene_name": "ZNF697", "organism": "Human", "refseq_name": "zinc finger protein 697", "refseq_ac": "NP_001073939", "gene_names_uniprotkb": "ZNF697", "gene_names_refseq": "ZFP697; ZNF697", "protein_names_uniprotkb": "Zinc finger protein 697", "protein_names_refseq": "zinc finger protein 697", "tax_id": 9606, "disease": "", "pathway": " (hsa:90874); (R-HSA-212436)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;24714562;25576301;25645385;26728094;26992070;27600516;27846572;27862975;28236339;28832583;28834231;29242379;29557506;29786170;30429286;31844290;31848261;31998317;32157095;32357974;32488085;32983136;33592498;33717175;33968037;34185709;34932366;35051231;35580925;36010968;36284347;37938771;39141348;8183939;8769649;9637681;9653119", "class_list": "", "function": "RNA-interacting protein with a high number of miRNA targets. Acts as a damage-induced regulator of muscle remodeling by mediating the interferon gamma response in muscle cells., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q96IT2", "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:0035198 miRNA 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:0034341 response to type II interferon", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q5TEC3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZNG0-1", "uniprot_id": "ZN620_HUMAN", "mass": 48503.0, "length": 422, "protein_name": "Zinc finger protein 620", "gene_name": "ZNF620", "organism": "Human", "refseq_name": "zinc finger protein 620 isoform b", "refseq_ac": "NP_001243096", "gene_names_uniprotkb": "ZNF620", "gene_names_refseq": "ZNF620", "protein_names_uniprotkb": "Zinc finger protein 620", "protein_names_refseq": "zinc finger protein 620 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:253639); (R-HSA-212436)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;28832583;29242379;29557506;31848261;32157095;32161166;32938616;33912179;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": 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": "Q8N223", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q6ZNG0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZNG1-1", "uniprot_id": "ZN600_HUMAN", "mass": 83124.0, "length": 722, "protein_name": "Zinc finger protein 600", "gene_name": "ZNF600", "organism": "Human", "refseq_name": "zinc finger protein 600 isoform 2", "refseq_ac": "NP_001308795", "gene_names_uniprotkb": "ZNF600", "gene_names_refseq": "KR-ZNF1; ZNF600", "protein_names_uniprotkb": "Zinc finger protein 600", "protein_names_refseq": "zinc finger protein 600 isoform 2; zinc finger protein KR-ZNF1", "tax_id": 9606, "disease": "", "pathway": " (hsa:162966); (R-HSA-212436)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;28832583;29242379;29557506;29632046;31844290;31848261;32157095;32387766;32938616;32983136;33968037;35051231;35494241;35561310;35580925;36010968;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": 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": "Q6MZR0", "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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q6ZNG1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZRF7-1", "uniprot_id": "ZN818_HUMAN", "mass": 15513.0, "length": 136, "protein_name": "Putative zinc finger protein 818", "gene_name": "ZNF818P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ZNF818P; ZNF818", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative zinc finger protein 818", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "35494241", "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": 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:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0043565 sequence-specific DNA 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": 0.2, "record_id": "Q6ZRF7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZT77-1", "uniprot_id": "ZN826_HUMAN", "mass": 20580.0, "length": 177, "protein_name": "Putative zinc finger protein 826", "gene_name": "ZNF826P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ZNF826P; ZNF826", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative zinc finger protein 826", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO: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": 0.1, "record_id": "Q6ZT77-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q75MW2-1", "uniprot_id": "ZN767_HUMAN", "mass": 17236.0, "length": 155, "protein_name": "Protein ZNF767", "gene_name": "ZNF767P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ZNF767P; ZNF767", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein ZNF767; Zinc finger protein 767 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-212436)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;29632046;8183939;8769649;9637681;9653119", "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": "D3DWG6;Q86WY4;Q9H9J3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q75MW2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86XN6-1", "uniprot_id": "ZN761_HUMAN", "mass": 87716.0, "length": 746, "protein_name": "Zinc finger protein 761", "gene_name": "ZNF761", "organism": "Human", "refseq_name": "zinc finger protein 761 isoform a", "refseq_ac": "NP_001008401", "gene_names_uniprotkb": "ZNF761; KIAA2033", "gene_names_refseq": "ZNF761", "protein_names_uniprotkb": "Zinc finger protein 761", "protein_names_refseq": "zinc finger protein 761 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:388561); (R-HSA-212436)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;28832583;29242379;29508533;29632711;29786170;30379171;32502341;32938616;32983136;33717175;33912179;34171305;34561969;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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A0A087WXT7;Q6ZNB9", "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": 3.4, "record_id": "Q86XN6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N393-1", "uniprot_id": "ZN786_HUMAN", "mass": 89815.0, "length": 782, "protein_name": "Zinc finger protein 786", "gene_name": "ZNF786", "organism": "Human", "refseq_name": "zinc finger protein 786", "refseq_ac": "NP_689624", "gene_names_uniprotkb": "ZNF786", "gene_names_refseq": "ZNF786", "protein_names_uniprotkb": "Zinc finger protein 786", "protein_names_refseq": "zinc finger protein 786", "tax_id": 9606, "disease": "", "pathway": " (hsa:136051); (R-HSA-212436)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16408927;16606702;16719718;2163759;24714562;26154972;26992070;27655845;28411811;29493099;30059200;30444036;31844290;32938616;32983136;33633747;33717175;33912179;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": 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": "A1A568;B4DMI1", "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:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q8N393-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N8C0-1", "uniprot_id": "ZN781_HUMAN", "mass": 41526.0, "length": 355, "protein_name": "Zinc finger protein 781", "gene_name": "ZNF781", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ZNF781", "gene_names_refseq": "", "protein_names_uniprotkb": "Zinc finger protein 781", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "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": "Q2VPJ8", "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": 0.1, "record_id": "Q8N8C0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92670-1", "uniprot_id": "ZN75C_HUMAN", "mass": 49753.0, "length": 426, "protein_name": "Putative zinc finger protein 75C", "gene_name": "ZNF75CP", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ZNF75CP; ZNF75C", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative zinc finger protein 75C; Zinc finger protein 75C pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-212436)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;30379171;8183939;8661144;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": 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:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q92670-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96IR2-1", "uniprot_id": "ZN845_HUMAN", "mass": 113133.0, "length": 970, "protein_name": "Zinc finger protein 845", "gene_name": "ZNF845", "organism": "Human", "refseq_name": "zinc finger protein 845", "refseq_ac": "NP_001308451", "gene_names_uniprotkb": "ZNF845", "gene_names_refseq": "ZNF845", "protein_names_uniprotkb": "Zinc finger protein 845", "protein_names_refseq": "zinc finger protein 845", "tax_id": 9606, "disease": "", "pathway": " (hsa:91664)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "24715725;25892735;26992070;28832583;29242379;29493099;29786170;30429286;30484775;31154438;31844290;32157095;32502341;32897882;32983136;33592498;35051231;36010968;36284347;39894887", "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": 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": "", "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", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q96IR2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96N77-1", "uniprot_id": "ZN641_HUMAN", "mass": 49528.0, "length": 438, "protein_name": "Zinc finger protein 641", "gene_name": "ZNF641", "organism": "Human", "refseq_name": "zinc finger protein 641 isoform 2", "refseq_ac": "NP_001166152", "gene_names_uniprotkb": "ZNF641", "gene_names_refseq": "ZNF641", "protein_names_uniprotkb": "Zinc finger protein 641", "protein_names_refseq": "zinc finger protein 641 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:121274); (R-HSA-212436)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16343441;16606702;16719718;20068231;2163759;23186163;23481700;24715725;28218747;29632046;30379171;30779550;31844290;31848261;32157095;32357974;35427894;8183939;8769649;9637681;9653119", "class_list": "", "function": "HCG15 is a hypoxia-responsive lncRNA and facilitates hepatocellular carcinoma cell proliferation and invasion by enhancing ZNF641 transcription., [RefSeq, PubMed]; Transcriptional activator. Activates transcriptional activities of SRE and AP-1., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KS43;B4DNU5;Q8TCQ7;Q8WVE1", "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:0005730 nucleolus", "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": "Q96N77-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96N95-1", "uniprot_id": "ZN396_HUMAN", "mass": 38612.0, "length": 335, "protein_name": "Zinc finger protein 396", "gene_name": "ZNF396", "organism": "Human", "refseq_name": "zinc finger protein 396 isoform 1", "refseq_ac": "NP_001309215", "gene_names_uniprotkb": "ZNF396; ZSCAN14", "gene_names_refseq": "ZNF396; ZSCAN14", "protein_names_uniprotkb": "Zinc finger protein 396; Zinc finger and SCAN domain-containing protein 14", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 14; zinc finger protein 396 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:252884)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12801647;24445935;28218747;30429286;31998317;33537174;33592498;36010968;39894887", "class_list": "", "function": "Isoform 1 and isoform 2 act as DNA-dependent transcriptional repressors., [UniProtKB, PubMed]; ZNF396 might repress Notch-Hes1 signaling axis and prevent tumor cells from undergoing squamous differentiation in basal 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": 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": "A1L3V0;Q8NF98;Q8TD80", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;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", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96N95-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y462-1", "uniprot_id": "ZN711_HUMAN", "mass": 86245.0, "length": 761, "protein_name": "Zinc finger protein 711", "gene_name": "ZNF711", "organism": "Human", "refseq_name": "zinc finger protein 711 isoform 1", "refseq_ac": "NP_001317503", "gene_names_uniprotkb": "ZNF711; CMPX1; ZNF6", "gene_names_refseq": "CMPX1; MRX65; MRX97; XLID97; ZNF4; ZNF5; ZNF6; ZNF711; Zfp711; dJ75N13.1", "protein_names_uniprotkb": "Zinc finger protein 711; Zinc finger protein 6", "protein_names_refseq": "dJ75N13.1 (znf6-like); zinc finger protein 6 (CMPX1); zinc finger protein 711 isoform 1; zinc finger protein 711", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability 97 (Disease Ontology:DOID:0112046)", "pathway": " (hsa:7552); (R-HSA-212436)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;17525332;18452278;1923752;19377476;20346720;2163759;24366607;24714562;27862975;27920218;27993705;28228285;28832583;28904123;29557506;31154438;31530632;31691806;31844290;32157095;32406922;33912179;34087483;34356104;34521054;34992252;35051231;35580925;39180464;39302247;8183939;8769649;9637681;9653119", "class_list": "", "function": "Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures. Publication Status: Online-Only, [RefSeq, PubMed]; Characterization of the ZFX family of transcription factors that bind downstream of the start site of CpG island promoters., [RefSeq, PubMed]; Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. Erratum:[Eur J Hum Genet. 2023 Dec 1. doi: 10.1038/s41431-023-01499-2. PMID: 38040915], [RefSeq, PubMed]; This gene encodes a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts as a transcriptional activator. This gene lies in a region of the X chromosome which has been associated with cognitive disability. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription regulator required for brain development (PubMed:20346720). Probably acts as a transcription factor that binds to the promoter of target genes and recruits PHF8 histone demethylase, leading to activated expression of genes involved in neuron development, such as KDM5C (PubMed:20346720, PubMed:31691806). May compete with transcription factor ARX for activation of expression of KDM5C (PubMed:31691806)., [UniProtKB, PubMed, PubMed]; ZNF711 down-regulation promotes CISPLATIN resistance in epithelial ovarian cancer via interacting with JHDM2A and suppressing SLC31A1 expression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DSV4;Q6NX42;Q9Y4J6", "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_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:0045893 positive regulation of DNA-templated transcription;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9Y462-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NG8-1", "uniprot_id": "ZN582_HUMAN", "mass": 60498.0, "length": 517, "protein_name": "Zinc finger protein 582", "gene_name": "ZNF582", "organism": "Human", "refseq_name": "zinc finger protein 582", "refseq_ac": "NP_653291", "gene_names_uniprotkb": "ZNF582", "gene_names_refseq": "ZNF582", "protein_names_uniprotkb": "Zinc finger protein 582", "protein_names_refseq": "zinc finger protein 582", "tax_id": 9606, "disease": "", "pathway": " (hsa:147948); (R-HSA-212436)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;22815913;24123876;24407576;25134998;28228285;29557506;30315122;30379171;31217245;31844290;32265295;32502341;33038291;33091337;33912179;35642528;36966163;39304838;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Methylation levels of ZNF582 in uterine cervix adenocarcinomas is significantly higher than those in normal cervical tissues., [RefSeq, PubMed]; Relationship between p16/ki67 immunoscores and PAX1/ZNF582 methylation status in precancerous and cancerous cervical lesions in high-risk HPV-positive women. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a zing finger protein and putative transcription factor that is highly methylated in cervical cancers. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]; This is the first study to show that ZNF582 methylation analysis of cervical swabs may be a promising choice in the positive triage of cytological diagnoses of low-grade squamous intraepithelial lesions, [RefSeq, PubMed]; ZNF582 hypermethylation promotes metastasis of nasopharyngeal carcinoma by regulating the transcription of adhesion molecules Nectin-3 and NRXN3. Erratum:[Cancer Commun (Lond). 2022 Mar;42(3):281-283. doi: 10.1002/cac2.12264. PMID: 35129313], [RefSeq, PubMed]; ZNF582 is frequently methylated in cervical intraepithelial neoplasia 3 and worse lesions, [RefSeq, PubMed]; ZNF582 overexpression restrains the progression of clear cell renal cell carcinoma by enhancing the binding of TJP2 and ERK2 and inhibiting ERK2 phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; ZNF582 promoter methylation predicts cervical cancer radiosensitivity and ZNF582 protein overexpression reduces radiosensitivity by cell cycle arrest in S phase., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DQZ9;B7Z9R3;Q6PJT6", "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": 3.5, "record_id": "Q96NG8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A1YPR0-1", "uniprot_id": "ZBT7C_HUMAN", "mass": 69017.0, "length": 619, "protein_name": "Zinc finger and BTB domain-containing protein 7C", "gene_name": "ZBTB7C", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 7C", "refseq_ac": "NP_001034449", "gene_names_uniprotkb": "ZBTB7C; APM1; ZBTB36; ZNF857C", "gene_names_refseq": "APM-1; APM1; ZBTB36; ZBTB7C; ZNF857C", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 7C; APM-1; Affected by papillomavirus DNA integration in ME180 cells protein 1; Zinc finger and BTB domain-containing protein 36; Zinc finger protein 857C", "protein_names_refseq": "B230208J24Rik; affected by papillomavirus DNA integration in ME180 cells protein 1; zinc finger and BTB domain containing 36; zinc finger and BTB domain-containing protein 36; zinc finger and BTB domain-containing protein 7C; zinc finger protein 857C", "tax_id": 9606, "disease": "", "pathway": " (hsa:201501)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;17932560;22253232;26542693;28571744;29557506;31844290;32193444;33592498;33946045;35051231;37121538;9427755", "class_list": "", "function": "Adm and APM-1 protect endothelium-dependent vascular relaxation in sepsis., [RefSeq, PubMed]; Identification of Novel Alzheimer's Disease Loci Using Sex-Specific Family-Based Association Analysis of Whole-Genome Sequence Data. Publication Status: Online-Only, [RefSeq, PubMed]; May be a tumor suppressor gene., [UniProtKB, PubMed]; Our findings define KR-POK as a transcriptional repressor with a pro-oncogenic role that relies upon binding to p53 and inhibition of its transactivation function., [RefSeq, PubMed]; Repression of Kr-POK inhibited tumor growth., [RefSeq, PubMed]; The prognostic and immunological effects of ZBTB7C across cancers: friend or foe?, [RefSeq, PubMed]; ZBTB7C genetic variations were significant for susceptibility to ischemic injury in cerebral ischemia., [RefSeq, PubMed]; ZBTB7C m6A modification incurred by METTL3 aberration promotes osteosarcoma progression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "O73453", "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:0006357 regulation of transcription by RNA polymerase II;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "A1YPR0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NHJ4-1", "uniprot_id": "ZN860_HUMAN", "mass": 73757.0, "length": 632, "protein_name": "Zinc finger protein 860", "gene_name": "ZNF860", "organism": "Human", "refseq_name": "zinc finger protein 860", "refseq_ac": "NP_001131146", "gene_names_uniprotkb": "ZNF860", "gene_names_refseq": "ZNF860", "protein_names_uniprotkb": "Zinc finger protein 860", "protein_names_refseq": "zinc finger protein 860", "tax_id": 9606, "disease": "", "pathway": " (hsa:344787); (R-HSA-212436)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;27600516;28832583;29242379;30767193;31844290;31848261;32157095;33968037;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; The gastric cancer (GC) tissues had significantly upregulated ZNF860 expression. High ZNF860 RNA expression was independently associated with shorter recurrence-free survival in patients with early GC. Six genes (OSBPL10, FAM208A, TOPBP1, SPTY2D1, NAB1, and CMTM6) were positively co-expressed with ZNF860, suggesting that ZNF860 probably acts as a transcription enhancer in 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": 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": "B4DFA4", "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": 2.2, "record_id": "A6NHJ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NP11-1", "uniprot_id": "ZN716_HUMAN", "mass": 57006.0, "length": 495, "protein_name": "Zinc finger protein 716", "gene_name": "ZNF716", "organism": "Human", "refseq_name": "zinc finger protein 716", "refseq_ac": "NP_001152751", "gene_names_uniprotkb": "ZNF716", "gene_names_refseq": "ZNF716", "protein_names_uniprotkb": "Zinc finger protein 716", "protein_names_refseq": "zinc finger protein 716", "tax_id": 9606, "disease": "", "pathway": " (hsa:441234); (R-HSA-212436)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;24714562;31217245;31844290;34087483;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": 15, "reported_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": 1.8, "record_id": "A6NP11-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IQ21-1", "uniprot_id": "ZN770_HUMAN", "mass": 80007.0, "length": 691, "protein_name": "Zinc finger protein 770", "gene_name": "ZNF770", "organism": "Human", "refseq_name": "zinc finger protein 770", "refseq_ac": "NP_054825", "gene_names_uniprotkb": "ZNF770", "gene_names_refseq": "PRO1914; ZNF770", "protein_names_uniprotkb": "Zinc finger protein 770", "protein_names_refseq": "zinc finger protein 770", "tax_id": 9606, "disease": "", "pathway": " (hsa:54989); (R-HSA-212436)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;20112406;2163759;23481700;24366607;24714562;24715725;25469497;25576301;25645385;25880248;26154972;26375851;26728094;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28855257;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;31154438;31530632;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;33123756;33141586;33298915;33537174;33691108;33717175;33912179;33936100;33968037;34211107;35051231;35251023;35580925;36010968;36241641;36284347;37217939;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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZMZ6;Q9NWV2", "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": 7.9, "record_id": "Q6IQ21-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0M5-1", "uniprot_id": "ZN700_HUMAN", "mass": 86232.0, "length": 742, "protein_name": "Zinc finger protein 700", "gene_name": "ZNF700", "organism": "Human", "refseq_name": "zinc finger protein 700 isoform 2", "refseq_ac": "NP_001258777", "gene_names_uniprotkb": "ZNF700", "gene_names_refseq": "ZNF700", "protein_names_uniprotkb": "Zinc finger protein 700", "protein_names_refseq": "zinc finger protein 700 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:90592); (R-HSA-212436)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10235266;10330177;11230166;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25875936;25892735;26375851;26992070;27846572;29242379;29493099;29769354;31154438;31217245;31844290;32161166;32502341;33717175;8183939;8769649;9637681;9653119", "class_list": "", "function": "High ZNF700 expression is associated with colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B9EGU4", "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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9H0M5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TAW3-1", "uniprot_id": "ZN671_HUMAN", "mass": 60972.0, "length": 534, "protein_name": "Zinc finger protein 671", "gene_name": "ZNF671", "organism": "Human", "refseq_name": "zinc finger protein 671 isoform 1", "refseq_ac": "NP_079109", "gene_names_uniprotkb": "ZNF671", "gene_names_refseq": "ZNF671", "protein_names_uniprotkb": "Zinc finger protein 671", "protein_names_refseq": "zinc finger protein 671 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79891); (R-HSA-212436)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26320192;26992070;28716111;29052525;29493099;30379171;30429286;30633424;31844290;32502341;33633747;36436566;37215982;8183939;8769649;9637681;9653119", "class_list": "", "function": "Data show that ZNF671, an epigenetically silenced tumor suppressor, represents a potential predictor for urothelial carcinoma (UC) relapse and non-invasive biomarker that could assist in UC clinical decision-making., [RefSeq, PubMed]; Data show that mRNA and protein expression of ZNF671 are down-regulated in nasopharyngeal cancer (NPC) tissues and cell lines. Its downregulation promotes NPC cell proliferation and tumorigenicity by facilitating cell cycle progression. These results suggest that ZNF671 is a potential tumor suppressor which epigenetically silenced by promoter methylation in NPC. Erratum:[J Exp Clin Cancer Res. 2021 Dec 15;40(1):394. doi: 10.1186/s13046-021-02205-0. PMID: 34911540] Publication Status: Online-Only, [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]; Increased methylation of ZNF671 suppresses tumor progression by promoting MAPK6 transcription in laryngeal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; ZNF671 functions as a tumor suppressor in ovarian cancer., [RefSeq, PubMed]; Zinc finger protein 671 has a cancer-inhibiting function in colorectal carcinoma via the deactivation of Notch 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": 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": "A6NF07;Q9H5E9", "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_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": 3.0, "record_id": "Q8TAW3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P9A1-1", "uniprot_id": "ZN530_HUMAN", "mass": 68837.0, "length": 599, "protein_name": "Zinc finger protein 530", "gene_name": "ZNF530", "organism": "Human", "refseq_name": "zinc finger protein 530 isoform 2", "refseq_ac": "NP_001308910", "gene_names_uniprotkb": "ZNF530; KIAA1508", "gene_names_refseq": "ZNF530", "protein_names_uniprotkb": "Zinc finger protein 530", "protein_names_refseq": "zinc finger protein 530 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:348327); (R-HSA-212436)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;26992070;27600516;27862975;28834231;29242379;29493099;31154438;31844290;32157095;33592498;34185709;35051231;36284347;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": 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": "O43340;Q9P220", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO: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": 2.9, "record_id": "Q6P9A1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15231-1", "uniprot_id": "ZN185_HUMAN", "mass": 73525.0, "length": 689, "protein_name": "Zinc finger protein 185", "gene_name": "ZNF185", "organism": "Human", "refseq_name": "zinc finger protein 185 isoform 1", "refseq_ac": "NP_001171577", "gene_names_uniprotkb": "ZNF185", "gene_names_refseq": "SCELL; ZNF185", "protein_names_uniprotkb": "Zinc finger protein 185; LIM domain protein ZNF185; P1-A", "protein_names_refseq": "P1-A; sciellin like; zinc finger protein 185 (LIM domain); zinc finger protein 185 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7739)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10854409;11237011;12873976;15731117;16799630;18088087;18452278;19413330;19415658;19664994;19664995;20068231;23186163;23301498;24715725;25505266;25576301;27846572;29242379;29557506;30337687;30379171;30429286;30446632;31217245;31492838;31848261;32157095;32574038;32938616;33214551;33968037;33981976;34019948;34171305;34421347;34725712;35051231;36241641;36631535;40596516;9268636", "class_list": "", "function": "May be involved in the regulation of cellular proliferation and/or differentiation., [UniProtKB]; Results provide evidence that ZNF185 is a key component of the p63-dependent transcriptional program for stratified epithelial development and tissue homeostasis. ZNF185 deregulation, beyond deregulating cell adhesion in general, is also relevant for carcinoma formation of the stratified epithelia suggesting that ZNF185 may be a potential biomarker for squamous cell carcinoma diagnosis and prognosis., [RefSeq, PubMed]; These data highlight the involvement of ZNF185 and cytoskeleton changes in p53-mediated cellular response to genotoxic stress and indicate ZNF185 as potential biomarker for epithelial cancer diagnosis., [RefSeq, PubMed]; Transcriptional activation of ZNF185 and CYP3A4 is mediated by direct association of BRG1 with their promoters and a decreased level of ZNF185 is a common feature of lung tumours, [RefSeq, PubMed]; Transcriptional silencing of ZNF185 by methylation in prostate tumor tissues implicates the ZNF185 gene in prostate tumorigenesis., [RefSeq, PubMed]; UBE3A activates the NOTCH pathway and promotes esophageal cancer progression by degradation of ZNF185. Publication Status: Online-Only, [RefSeq, PubMed]; ZNF185 may function as a tumor-suppressor protein by associating with the actin-cytoskeleton, [RefSeq, PubMed]; ZNF185 prevents stress fiber formation through the inhibition of RhoA in endothelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a LIM-domain zinc finger protein. The LIM domain is composed of two contiguous zinc finger domains, separated by a two-amino acid residue hydrophobic linker. The LIM domain mediates protein:protein interactions. 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": 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": 12, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "A4FTV3;A6NME5;B4DLE9;B7Z771;B8K2L9;B8K2M0;B8K2M1;B8K2M2;E9PFR6;F5GXF7;F5GZL4;F8W8V7;H0Y4M8;O00345;Q8N1R8;Q9NSD2", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "O15231-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75123-1", "uniprot_id": "ZN623_HUMAN", "mass": 61393.0, "length": 536, "protein_name": "Zinc finger protein 623", "gene_name": "ZNF623", "organism": "Human", "refseq_name": "zinc finger protein 623 isoform 2", "refseq_ac": "NP_001075949", "gene_names_uniprotkb": "ZNF623; KIAA0628", "gene_names_refseq": "ZNF623", "protein_names_uniprotkb": "Zinc finger protein 623", "protein_names_refseq": "zinc finger protein 623 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9831)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "29493099;31154438;31848261;32387766;33633747;35318648;36215666", "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": 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": "A4FU80;B4DGP3;E7ENV5", "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": 0.8, "record_id": "O75123-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75820-1", "uniprot_id": "ZN189_HUMAN", "mass": 72976.0, "length": 626, "protein_name": "Zinc finger protein 189", "gene_name": "ZNF189", "organism": "Human", "refseq_name": "zinc finger protein 189 isoform 3", "refseq_ac": "NP_001265160", "gene_names_uniprotkb": "ZNF189", "gene_names_refseq": "ZNF189", "protein_names_uniprotkb": "Zinc finger protein 189", "protein_names_refseq": "zinc finger protein 189 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:7743); (R-HSA-212436)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10235266;10330177;10415338;11237011;11395415;14519192;15175151;15896744;16606702;16719718;20634891;2163759;25218447;25755297;25772364;25880248;26992070;27846572;28832583;29242379;29508533;30379171;30429286;31844290;31848261;32157095;32357974;32387766;32938616;32983136;33298915;33537174;33912179;33968037;34509645;34561969;34932366;35051231;35580925;36010968;8183939;8769649;9637681;9653119;9653648", "class_list": "", "function": "Kruppel-like zinc finger proteins such as ZNF189 contain a conserved stretch of 7 amino acids that connects a variable number of DNA-binding zinc finger repeats of the cys(2)his(2) (C2H2) type (summarized by Odeberg et al., 1998 [PubMed 9653648]). Approximately 30% of human Kruppel-like zinc finger proteins contain an N-terminal Kruppel-associated box (KRAB) domain. The KRAB domain consists of approximately 75 amino acids that may be subdivided into an A box, which is present in every KRAB domain and is essential for transcriptional repression, and a B box, which is not always present.[supplied by OMIM, May 2010]., [RefSeq]; Maternal genes FLNB, HIC1 and ZNF189 were strongly associated with risk of clefting. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "O75802;Q5T7D7;Q5T7D8;Q5T7D9;Q9UBL4;Q9UPE9;Q9UPF0;Q9UPF1", "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:0009891 positive regulation of biosynthetic process;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "O75820-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C880-1", "uniprot_id": "YT014_HUMAN", "mass": 14177.0, "length": 135, "protein_name": "Putative uncharacterized protein FLJ40606", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ40606", "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": "P0C880-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P86452-1", "uniprot_id": "ZBED6_HUMAN", "mass": 109973.0, "length": 979, "protein_name": "Zinc finger BED domain-containing protein 6", "gene_name": "ZBED6", "organism": "Human", "refseq_name": "zinc finger BED domain-containing protein 6", "refseq_ac": "NP_001167579", "gene_names_uniprotkb": "ZBED6", "gene_names_refseq": "MGR; ZBED6", "protein_names_uniprotkb": "Zinc finger BED domain-containing protein 6", "protein_names_refseq": "zinc finger BED domain-containing protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:100381270)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "20016685;20134481;24043816;25645385;26056301;26992070;28832583;28834231;28904123;29557506;29769354;30315122;31154438;31844290;32157095;32488085;32938616;33298915;33592498;33968037;34185709;34561969;35051231;35580925;36010968;36284347;37551034;39302247", "class_list": "", "function": "Loss of ZBED6 Protects Against Sepsis-Induced Muscle Atrophy by Upregulating DOCK3-Mediated RAC1/PI3K/AKT Signaling Pathway in Pigs., [RefSeq, PubMed]; Mouse MGR (Zbed6) is a repressor of Igf2., [RefSeq, PubMed]; Results of this study show that the effect of ZBED6 on tumor development depends on the genetic background and the transcriptional state of its target genes, [RefSeq, PubMed]; Silencing of Zbed6 in mouse C2C12 myoblasts affected Igf2 expression, cell proliferation, wound healing, and myotube formation., [RefSeq, PubMed]; The protein encoded by this transposon-derived intronless gene is a transcriptional repressor that binds to the consensus sequence 5'-GCTCGC-3'. The encoded protein has been shown to repress IGF2 transcription. This gene is located within the first intron of the ZC3H11A gene. [provided by RefSeq, Jul 2016]., [RefSeq]; Transcriptional repressor which binds to the consensus sequence 5'-GCTCGC-3', transcription regulation may be tissue-specific (By similarity). Regulates the expression of target genes such as: IGF2, PGAP6/TMEM8, ENHO, and PIANP (By similarity). Acts as a transcriptional repressor of growth factor IGF2, thereby negatively regulating postnatal growth of muscles and internal organs, especially in females (By similarity). Negatively regulates myoblast differentiation and myoblast mitochondrial activity via its regulation of IGF2 transcription (By similarity). Negatively regulates the cell cycle of myoblasts, potentially via transcriptional regulation of the E2F family of transcription factors such as: E2F1 and E2F2 (By similarity). Positively regulates the cell cycle and survival of pancreatic beta cells (PubMed:24043816). Binds to the CDH2 gene and may directly repress CDH2 transcription (By similarity). Probably by controlling CDH2 expression, regulates pancreatic beta cell adhesion, and formation of cell-to-cell junctions between pancreatic beta cells and neural crest stem cells (By similarity). May also play a role in embryonic beta cell differentiation (By similarity). May play a role in insulin sensitivity and glucose clearance (By similarity)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046983 protein dimerization activity;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:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0061178 regulation of insulin secretion involved in cellular response to glucose stimulus", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "P86452-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13106-1", "uniprot_id": "ZN154_HUMAN", "mass": 49865.0, "length": 437, "protein_name": "Zinc finger protein 154", "gene_name": "ZNF154", "organism": "Human", "refseq_name": "zinc finger protein 154", "refseq_ac": "NP_001078853", "gene_names_uniprotkb": "ZNF154; KIAA2003", "gene_names_refseq": "ZNF154; pHZ-92", "protein_names_uniprotkb": "Zinc finger protein 154", "protein_names_refseq": "zinc finger protein 154", "tax_id": 9606, "disease": "", "pathway": " (hsa:7710); (R-HSA-212436)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23056278;24149212;29393594;29966681;30315122;31683647;33420235;36064578;7557990;8183939;8769649;9637681;9653119", "class_list": "", "function": "Assessing ZNF154 methylation in patient plasma as a multicancer marker in liquid biopsies from colon, liver, ovarian and pancreatic cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Data show a significant association between zinc finger protein 154 (ZNF154) promoter hypermethylation and better postoperative survival. Publication Status: Online-Only, [RefSeq, PubMed]; Epigenetic modifications affecting the promoters of ZNF154, CASP8, and VHL are shared across a vast array of tumor types and may therefore be important for understanding the genomic landscape of cancer., [RefSeq, PubMed]; Hypermethylation level of ZNF154 lead to gene expression inhibition and function loss, which contribute to the development and poor outcomes in Prostate cancer. In addition, the mean methylation level of ZNF154 can be used as an independent risk factor to predict biochemical recurrence., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; Methylation levels of EOMES, HOXA9, POU4F2, TWIST1, VIM, and ZNF154 in urine specimens are promising diagnostic biomarkers for bladder cancer recurrence surveillance, [RefSeq, PubMed]; Targeted demethylation at ZNF154 promotor upregulates ZNF154 expression and inhibits the proliferation and migration of Esophageal Squamous Carcinoma cells., [RefSeq, PubMed]; This gene encodes a protein that belongs to the zinc finger Kruppel family of transcriptional regulators, whose members are thought to function in normal and abnormal cell growth and differentiation. Hypermethylation of this gene is associated with the recurrence of non muscle invasive bladder cancer. 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": 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": "A7MCY3;Q8IVG7;Q8NAR0", "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:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q13106-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3SY52-1", "uniprot_id": "ZIK1_HUMAN", "mass": 54786.0, "length": 487, "protein_name": "Zinc finger protein interacting with ribonucleoprotein K", "gene_name": "ZIK1", "organism": "Human", "refseq_name": "zinc finger protein interacting with ribonucleoprotein K isoform 1", "refseq_ac": "NP_001010879", "gene_names_uniprotkb": "ZIK1; ZNF762", "gene_names_refseq": "ZIK1; ZNF762", "protein_names_uniprotkb": "Zinc finger protein interacting with ribonucleoprotein K; Zinc finger protein 762", "protein_names_refseq": "zinc finger protein 762; zinc finger protein interacting with K protein 1 homolog; zinc finger protein interacting with ribonucleoprotein K isoform 1; zinc finger protein interacting with ribonucleoprotein K", "tax_id": 9606, "disease": "", "pathway": " (hsa:284307); (R-HSA-212436)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;17071588;2163759;29557506;29769354;32157095;32502341;34932366;35051231;35580925;36215666;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be a transcriptional repressor., [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": 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": "O43339;Q3SY51;Q3SY53", "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": 2.4, "record_id": "Q3SY52-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5H9K5-1", "uniprot_id": "ZMAT1_HUMAN", "mass": 74783.0, "length": 638, "protein_name": "Zinc finger matrin-type protein 1", "gene_name": "ZMAT1", "organism": "Human", "refseq_name": "zinc finger matrin-type protein 1 isoform 4", "refseq_ac": "NP_001269329", "gene_names_uniprotkb": "ZMAT1; KIAA1789", "gene_names_refseq": "ZMAT1", "protein_names_uniprotkb": "Zinc finger matrin-type protein 1", "protein_names_refseq": "zinc finger matrin-type protein 1 isoform 4; zinc finger matrin-type protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84460)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "26191264;29242379;30379171;35392973", "class_list": "", "function": "Suggest that ZMAT1 transcript variant 2 is a potential diagnostic factor in patients with gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein containing Cys2-His2 (C2H2)-type zinc fingers, which are similar to those found in the nuclear matrix protein matrin 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]., [RefSeq]; ZMAT1 acts as a tumor suppressor in pancreatic ductal adenocarcinoma by inducing SIRT3/p53 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A0A494C0A7;Q8NDS3;Q96JN6", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5H9K5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UXR8-1", "uniprot_id": "YS001_HUMAN", "mass": 12794.0, "length": 122, "protein_name": "Putative uncharacterized protein UNQ6493/PRO21345", "gene_name": "PRO21345", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PRO21345", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein UNQ6493/PRO21345", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "12975309;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6UXR8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZPA2-1", "uniprot_id": "YS039_HUMAN", "mass": 13472.0, "length": 131, "protein_name": "Putative uncharacterized protein FLJ26174", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ26174", "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": "Q6ZPA2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZSS3-1", "uniprot_id": "ZN621_HUMAN", "mass": 49205.0, "length": 439, "protein_name": "Zinc finger protein 621", "gene_name": "ZNF621", "organism": "Human", "refseq_name": "zinc finger protein 621 isoform 1", "refseq_ac": "NP_001091884", "gene_names_uniprotkb": "ZNF621", "gene_names_refseq": "ZNF621", "protein_names_uniprotkb": "Zinc finger protein 621", "protein_names_refseq": "zinc finger protein 621 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:285268); (R-HSA-212436)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;24715725;25645385;26154972;26811146;28063628;28228285;29557506;29632046;29632711;30315122;30410026;31092671;31154438;31844290;32161166;33691108;35051231;35988287;36284347;8183939;8769649;9637681;9653119", "class_list": "", "function": "LINC01140 Regulates Radiosensitivity of Nasopharyngeal Carcinoma Cells Through the ceRNA Network. Publication Status: Online-Only, [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": 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": "Q14DC7;Q8TE91", "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:0016607 nuclear speck", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0032502 developmental process;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q6ZSS3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZTC4-1", "uniprot_id": "YT009_HUMAN", "mass": 22100.0, "length": 211, "protein_name": "Putative uncharacterized protein FLJ44790", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ44790", "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": "Q6ZTC4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZWC4-1", "uniprot_id": "YS043_HUMAN", "mass": 22988.0, "length": 215, "protein_name": "Putative uncharacterized protein LOC100128429", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein LOC100128429", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "30379171;37217939", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6ZWC4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q76KX8-1", "uniprot_id": "ZN534_HUMAN", "mass": 77167.0, "length": 674, "protein_name": "Zinc finger protein 534", "gene_name": "ZNF534", "organism": "Human", "refseq_name": "zinc finger protein 534 isoform 1", "refseq_ac": "NP_001137410", "gene_names_uniprotkb": "ZNF534; KRBO3", "gene_names_refseq": "KRBO3; ZNF534", "protein_names_uniprotkb": "Zinc finger protein 534; KRAB domain only protein 3", "protein_names_refseq": "KRAB domain only 3; KRAB domain only protein 3; zinc finger protein 534 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:147658); (R-HSA-9843940)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10330177;11959841;12869583;14536086;15882967;16567619;16954381;18082607;2028256;25274305;26813693;28273063;31289231;31427381;35051231;35561310;8769649;9016654", "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": 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": "Q76KX9", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q76KX8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7RTV3-1", "uniprot_id": "ZN367_HUMAN", "mass": 38411.0, "length": 350, "protein_name": "Zinc finger protein 367", "gene_name": "ZNF367", "organism": "Human", "refseq_name": "zinc finger protein 367", "refseq_ac": "NP_710162", "gene_names_uniprotkb": "ZNF367; ZFF29", "gene_names_refseq": "AFF29; ZFF29; ZNF367", "protein_names_uniprotkb": "Zinc finger protein 367; C2H2 zinc finger protein ZFF29", "protein_names_refseq": "C2H2 zinc finger protein ZFF29a; zinc finger protein 367", "tax_id": 9606, "disease": "", "pathway": " (hsa:195828)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "12234665;15344908;18669648;23186163;24714562;25047265;26992070;28832583;29242379;29508533;29557506;30429286;30570867;31154438;31530632;31641007;31844290;32157095;32488085;32502341;32549756;32938616;33141586;33592498;33968037;34351699;35561310;36284347;38880190;39894887", "class_list": "", "function": "Inhibition of zinc finger protein 367 exerts a tumor suppressive role in colorectal cancer by affecting the activation of oncogenic YAP1 signaling., [RefSeq, PubMed]; Molecular cloning of ZFF29 (zinc-finger protein of human fetal liver erythroid cells 29), from human fetal liver erythroid cells, [RefSeq, PubMed]; Over-expression of MiR-24 could significantly promoted cell migration and invasion (p<0.05). ZNF367 was a downstream target of MiR-24 and down-regulated by MiR-24. Knockdown of ZNF367 remarkably promoted NSCLC cell proliferation (p<0.05)., [RefSeq, PubMed]; Transcriptional activator. Isoform 1 may be involved in transcriptional activation of erythroid genes., [UniProtKB, PubMed]; Validation of the OncoMasTR Risk Score in Estrogen Receptor-Positive/HER2-Negative Patients: A TransATAC study., [RefSeq, PubMed]; ZNF367 is overexpressed in a variety of endocrine cancers and that it inhibits in vitro and in vivo growth, cellular invasion, migration, and adhesion. ZNF367 overexpression is associated with the loss of miR-195 expression. Publication Status: Online-Only, [RefSeq, PubMed]; ZNF367-induced transcriptional activation of KIF15 accelerates the progression of breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Zinc finger protein 367 exerts a cancer-promoting role in small cell lung cancer by influencing the CIT/LATS2/YAP signaling cascade., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6Q7C8", "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: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": 3.3, "record_id": "Q7RTV3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z340-1", "uniprot_id": "ZN551_HUMAN", "mass": 77515.0, "length": 670, "protein_name": "Zinc finger protein 551", "gene_name": "ZNF551", "organism": "Human", "refseq_name": "zinc finger protein 551 isoform 2", "refseq_ac": "NP_001257867", "gene_names_uniprotkb": "ZNF551; KOX23", "gene_names_refseq": "ZNF551", "protein_names_uniprotkb": "Zinc finger protein 551; Zinc finger protein KOX23", "protein_names_refseq": "KOX 23 protein (56 AA); zinc finger protein 551 isoform 2; zinc finger protein KOX23", "tax_id": 9606, "disease": "", "pathway": " (hsa:90233); (R-HSA-212436)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;2288909;23186163;25576301;25892735;26992070;29769354;31530632;32157095;32502341;33968037;33981976;35580925;36010968;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": 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": "B4DU22;P17034;Q8N246;Q9BRY1", "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:0045892 negative regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q7Z340-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86SH2-1", "uniprot_id": "ZAR1_HUMAN", "mass": 45873.0, "length": 424, "protein_name": "Zygote arrest protein 1", "gene_name": "ZAR1", "organism": "Human", "refseq_name": "zygote arrest protein 1", "refseq_ac": "NP_783318", "gene_names_uniprotkb": "ZAR1", "gene_names_refseq": "Z3CXXC6; ZAR1", "protein_names_uniprotkb": "Zygote arrest protein 1", "protein_names_refseq": "oocyte-specific maternal effect factor; zinc finger, 3CxxC-type 6; zygote arrest protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:326340)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12539046;12773403;16551357;20654783;31801617;32700283;32828887;35051231", "class_list": "", "function": "Study presents evidence that ZAR1, which harbors tumor suppressive properties, is a prognostic and diagnostic cancer biomarker for lung and kidney. ZAR1 suppresses tumor cell line growth in part through p53 and strongly depending on its functional zinc-finger. Publication Status: Online-Only, [RefSeq, PubMed]; The ZAR1 protein in cancer; from epigenetic silencing to functional characterisation and epigenetic therapy of tumour suppressors. Review article, [RefSeq, PubMed]; The carboxyl-termini of these ZAR1 proteins contain an important functional domain that is conserved through vertebrate evolution and that may be necessary for normal female reproduction in the transition from oocyte to embryonic life., [RefSeq, PubMed]; This maternal effect gene is oocyte-specific and encodes a protein that is thought to function in the initiation of embryogenesis. A similar protein in mouse is required for female fertility. [provided by RefSeq, Jul 2013]., [RefSeq]; Variation Screening of Zygote Arrest 1(ZAR1) in Women with Recurrent Zygote Arrest During IVF/ICSI Programs., [RefSeq, PubMed]; We identified a frequently aberrant methylated region within the Zygote arrest 1 (ZAR1) gene in melanoma and demonstrated a distinct methylation pattern between melanoma and nevus.The involvement of ZAR1 in the carcinogenesis of melanoma remains unclear., [RefSeq, PubMed]; Zygote arrest 1 (ZAR1) could be implicated in regulation of meiosis and post meiotic differentiation of male and female germ cells through expression of shorter splicing variants. Central role of this gene in early reproductive processes. Publication Status: Online-Only, [RefSeq, PubMed]; mRNA-binding protein that mediates formation of MARDO (mitochondria-associated ribonucleoprotein domain), a membraneless compartment that stores maternal mRNAs in oocytes. MARDO assembly around mitochondria is directed by an increase in mitochondrial membrane potential during oocyte growth. Promotes formation of MARDO phase-separated membraneless compartment by undergoing liquid-liquid phase separation upon binding to maternal mRNAs. Binds to the 3'-UTR of maternal mRNAs. Maternal mRNAs stored in the MARDO are translationally repressed. Essential for female fertility and oocyte-to-embryo transition by coordinating maternal mRNA storage, translation and degradation., [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": "", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003730 mRNA 3'-UTR binding;GO:0140693 molecular condensate scaffold activity;GO:0140610 RNA sequestering activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0036464 cytoplasmic ribonucleoprotein granule;GO:0035770 ribonucleoprotein granule;GO:0043232 intracellular membraneless organelle", "go_biological_process": "GO:0048255 mRNA stabilization;GO:0017148 negative regulation of translation;GO:0001556 oocyte maturation;GO:0140694 membraneless organelle assembly", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q86SH2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86UZ6-1", "uniprot_id": "ZBT46_HUMAN", "mass": 64083.0, "length": 589, "protein_name": "Zinc finger and BTB domain-containing protein 46", "gene_name": "ZBTB46", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 46", "refseq_ac": "NP_079500", "gene_names_uniprotkb": "ZBTB46; BTBD4; ZNF340", "gene_names_refseq": "BTBD4; BZEL; RINZF; ZBTB46; ZNF340; dJ583P15.7; dJ583P15.8", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 46; BTB/POZ domain-containing protein 4; Zinc finger protein 340", "protein_names_refseq": "BTB (POZ) domain containing 4; BTB-ZF protein expressed in effector lymphocytes; BTB/POZ domain-containing protein 4; zinc finger and BTB domain-containing protein 46; zinc finger protein 340", "tax_id": 9606, "disease": "", "pathway": " (hsa:140685)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;23186163;25218447;27862975;29557506;29884909;30312731;30429286;31154438;32161166;32387766;32983136;33398073;33723576;34815524;35051231;36010968", "class_list": "", "function": "In vitro results using endothelial cells (ECs) showed that cell confluence and laminar shear stress, both known physiological conditions promoting EC quiescence, led to upregulation of ZBTB46 expression., [RefSeq, PubMed]; Nerve growth factor interacts with CHRM4 and promotes neuroendocrine differentiation of prostate cancer and castration resistance. Publication Status: Online-Only, [RefSeq, PubMed]; PCK1 regulates neuroendocrine differentiation in a positive feedback loop of LIF/ZBTB46 signalling in castration-resistant prostate cancer., [RefSeq, PubMed]; Single nucleotide variations in ZBTB46 are associated with post-thrombolytic parenchymal haematoma., [RefSeq, PubMed]; Transcription regulator that mediates differentiation of conventional and non-conventional dendritic cells, and which is involved in tolerance to gut microbiota. Together with RORgammaT (RORC), specifically expressed in type 3 innate lymphoid cells (ILC3s) that are required for tolerance to gut microbiota, to mediate differentiation of peripherally-induced regulatory T-cells (pTreg), which suppress inflammatory responses to commensal microorganisms. Functions as a transcription corepressor for PRDM1., [UniProtKB, UniProtKB]; ZBTB46 is inversely correlated with SPDEF and is increased in higher tumor grades and small-cell NE prostate cancer (SCNC) patients, which are positively associated with PTGS1. Findings suggest that the induction of ZBTB46 results in increased PTGS1 expression, which is associated with NEPC progression and linked to the dysregulation of the AR-SPDEF 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": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1P5K9;Q5JWJ3;Q6GMV4;Q9BQK3;Q9H3Z8;Q9H3Z9", "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:0006357 regulation of transcription by RNA polymerase II;GO:0045066 regulatory T cell differentiation;GO:0002394 tolerance induction in gut-associated lymphoid tissue", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q86UZ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N567-1", "uniprot_id": "ZCHC9_HUMAN", "mass": 30477.0, "length": 271, "protein_name": "Zinc finger CCHC domain-containing protein 9", "gene_name": "ZCCHC9", "organism": "Human", "refseq_name": "zinc finger CCHC domain-containing protein 9", "refseq_ac": "NP_001124507", "gene_names_uniprotkb": "ZCCHC9", "gene_names_refseq": "PPP1R41; ZCCHC9", "protein_names_uniprotkb": "Zinc finger CCHC domain-containing protein 9", "protein_names_refseq": "protein phosphatase 1, regulatory subunit 41; zinc finger CCHC domain-containing protein 9; zinc finger, CCHC domain containing 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:84240)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "18721783;23186163;25418920;29393594;29557506;29632046;30644129;31217245;31844290;32265295;33717175;33912179;33936100", "class_list": "", "function": "Cytoplasmic ZCCHC9 could promote the proliferation and invasion of non-small cell lung cancer through the JNK pathway., [RefSeq, PubMed]; May down-regulate transcription mediated by NF-kappa-B and the serum response element., [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": 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": "B2RAE7;Q9H027", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8N567-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NCK3-1", "uniprot_id": "ZN485_HUMAN", "mass": 50280.0, "length": 441, "protein_name": "Zinc finger protein 485", "gene_name": "ZNF485", "organism": "Human", "refseq_name": "zinc finger protein 485 isoform a", "refseq_ac": "NP_001305069", "gene_names_uniprotkb": "ZNF485", "gene_names_refseq": "ZNF485", "protein_names_uniprotkb": "Zinc finger protein 485", "protein_names_refseq": "Zinc finger protein 93 (Zinc finger protein HTF34); zinc finger protein 485 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:220992); (R-HSA-212436)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16385451;16606702;16719718;2163759;29242379;29786170;32897882;32983136;36241641;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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DSE6;Q96CL0", "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:0001228 DNA-binding transcription activator 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": 2.4, "record_id": "Q8NCK3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NEM1-1", "uniprot_id": "ZN680_HUMAN", "mass": 61798.0, "length": 530, "protein_name": "Zinc finger protein 680", "gene_name": "ZNF680", "organism": "Human", "refseq_name": "zinc finger protein 680 isoform 2", "refseq_ac": "NP_001123494", "gene_names_uniprotkb": "ZNF680", "gene_names_refseq": "ZNF680", "protein_names_uniprotkb": "Zinc finger protein 680", "protein_names_refseq": "zinc finger protein 680 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:340252); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 32, "publication_id_list": "10235266;10330177;11395415;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;19913121;2028256;20628086;2163759;25274305;26813693;28273063;30429286;31289231;31427381;31844290;35051231;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B3KVJ4;Q6ZNF3;Q8NC79", "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": 3.3, "record_id": "Q8NEM1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WZ26-1", "uniprot_id": "YS006_HUMAN", "mass": 14832.0, "length": 134, "protein_name": "Putative uncharacterized protein PP6455", "gene_name": "PP6455", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PP6455", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein PP6455", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "15498874", "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": "Q8WZ26-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969W8-1", "uniprot_id": "ZN566_HUMAN", "mass": 49219.0, "length": 418, "protein_name": "Zinc finger protein 566", "gene_name": "ZNF566", "organism": "Human", "refseq_name": "zinc finger protein 566 isoform 2", "refseq_ac": "NP_001138815", "gene_names_uniprotkb": "ZNF566", "gene_names_refseq": "ZNF566", "protein_names_uniprotkb": "Zinc finger protein 566", "protein_names_refseq": "zinc finger protein 566 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84924); (R-HSA-212436)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10.1101/2023.09.13.557529;10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25892735;26992070;28218747;28832583;29242379;29437277;29769354;30429286;31154438;31844290;31848261;32502341;32897882;33717175;34171305;35051231;35561310;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": 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": "B7ZL95;Q2M3J1", "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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q969W8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96CX3-1", "uniprot_id": "ZN501_HUMAN", "mass": 31179.0, "length": 271, "protein_name": "Zinc finger protein 501", "gene_name": "ZNF501", "organism": "Human", "refseq_name": "zinc finger protein 501", "refseq_ac": "NP_001245209", "gene_names_uniprotkb": "ZNF501; ZNF52", "gene_names_refseq": "ZNF501; ZNF52; ZNF", "protein_names_uniprotkb": "Zinc finger protein 501; Zinc finger protein 52", "protein_names_refseq": "zinc finger protein 501; zinc finger protein 52", "tax_id": 9606, "disease": "", "pathway": " (hsa:115560)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "10.1101/2023.09.13.557529;29851555;39531497", "class_list": "", "function": "May be involved in transcriptional regulation. Essential for Golgi structural integrity (PubMed:29851555)., [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": 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": 13, "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": "B4DLY7;Q96NU9", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q96CX3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96F45-1", "uniprot_id": "ZN503_HUMAN", "mass": 62555.0, "length": 646, "protein_name": "Zinc finger protein 503", "gene_name": "ZNF503", "organism": "Human", "refseq_name": "zinc finger protein 503", "refseq_ac": "NP_116161", "gene_names_uniprotkb": "ZNF503; NOLZ1", "gene_names_refseq": "NOLZ-1; NOLZ1; Nlz2; ZEPPO2; ZNF503; ZPO2", "protein_names_uniprotkb": "Zinc finger protein 503", "protein_names_refseq": "NocA-like zinc finger 2; zinc finger protein 503; zinc-finger elbow-related proline domain protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84858)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "17081983;18452278;19413330;24714562;25645385;27862975;28258171;28832583;28880276;29242379;29557506;29786170;30192525;30379171;30429286;30779550;31844290;32157095;32387766;32488085;32938616;32983136;33633747;33968037;33981976;34019948;34171305;34932366;35051231;35254053;35580925;36241641;37036735;38665916", "class_list": "", "function": "Long non-coding RNA ZNF503-AS1 promotes retinal pigment epithelial cells differentiation by downregulating ZNF503 expression. Publication Status: Online-Only, [RefSeq, PubMed]; May function as a transcriptional repressor., [UniProtKB]; We have identified ZPO2 as a negative regulator of GATA3, thus providing an alternative mechanism that results in a reduction in or perhaps even loss of GATA3 during breast cancer development., [RefSeq, PubMed]; ZNF503 combined with GATA3 is a prognostic factor in triple-negative breast 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 15, "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": "Q8NAC5;Q96E25;Q96IJ0", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation;GO:0010629 negative regulation of gene expression;GO:0045892 negative regulation of DNA-templated transcription;GO:0061351 neural precursor cell proliferation", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q96F45-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96GR4-1", "uniprot_id": "ZDH12_HUMAN", "mass": 30813.0, "length": 267, "protein_name": "Palmitoyltransferase ZDHHC12", "gene_name": "ZDHHC12", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC12 isoform 2", "refseq_ac": "NP_001304945", "gene_names_uniprotkb": "ZDHHC12; PSEC0008; ZNF400", "gene_names_refseq": "DHHC-12; DHHC12; ZDHHC12; ZNF400", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC12; 2.3.1.225; DHHC domain-containing cysteine-rich protein 12; DHHC-12; Zinc finger DHHC domain-containing protein 12; Zinc finger protein 400", "protein_names_refseq": "DHHC domain-containing cysteine-rich protein 12; palmitoyltransferase ZDHHC12 isoform 2; probable palmitoyltransferase ZDHHC12; zinc finger DHHC domain-containing protein 12; zinc finger DHHC-type containing 12; zinc finger DHHC-type palmitoyltransferase 12; zinc finger protein 400", "tax_id": 9606, "disease": "", "pathway": " (hsa:84885)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;16303743;16647879;23481700;24715725;25892735;28218747;28467828;28855257;29242379;29314611;29393594;29437277;29493099;29557506;30573663;31844290;32357974;33141586;34357683;34433824;35051231;36586411;39225180", "class_list": "", "function": "Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates (PubMed:36586411). Has a palmitoyltransferase activity toward gephyrin/GPHN, regulating its clustering at synapses and its function in gamma-aminobutyric acid receptor clustering (By similarity). Thereby, indirectly regulates GABAergic synaptic transmission (By similarity). Negatively regulates NLRP3-driven inflammation. Catalyzes NLRP3 palmitoylation, leading to its degradation via the chaperone-mediated autophagy (CMA) process (PubMed:36586411, PubMed:39225180)., [UniProtKB, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 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": "A6NH95;B2RE03;Q5T265;Q5T267;Q5T268;Q86VT5;Q96T09", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0043197 dendritic spine;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0097116 gephyrin clustering involved in postsynaptic density assembly;GO:0006612 protein targeting to membrane;GO:0032230 positive regulation of synaptic transmission, GABAergic;GO:0018230 peptidyl-L-cysteine S-palmitoylation;GO:1900226 negative regulation of NLRP3 inflammasome complex assembly", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q96GR4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96H79-1", "uniprot_id": "ZCCHL_HUMAN", "mass": 32962.0, "length": 300, "protein_name": "Zinc finger CCCH-type antiviral protein 1-like", "gene_name": "ZC3HAV1L", "organism": "Human", "refseq_name": "zinc finger CCCH-type antiviral protein 1-like", "refseq_ac": "NP_542391", "gene_names_uniprotkb": "ZC3HAV1L; C7orf39", "gene_names_refseq": "C7orf39; ZC3HAV1L", "protein_names_uniprotkb": "Zinc finger CCCH-type antiviral protein 1-like", "protein_names_refseq": "zinc finger CCCH-type antiviral protein 1-like; zinc finger CCCH-type containing, antiviral 1 like; zinc finger CCCH-type, antiviral 1-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:92092)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "17525332;18077418;18669648;19413330;20068231;23273016;24714562;26728094;27920218;29242379;29557506;29632046;29769354;30379171;31844290;32502341;32938616;33968037;33981976;34019948;34229054;35318648;35580925", "class_list": "", "function": "Study reports the discovery of a chimeric RNA between ZC3HAV1L and CHMP1A in human, located on chromosome 7 and 16, respectively. The fusion occurs at an exon-exon boundary, and was detected both computationally and experimentally from different cells or tissue types. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8WUD9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q96H79-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96K58-1", "uniprot_id": "ZN668_HUMAN", "mass": 67904.0, "length": 619, "protein_name": "Zinc finger protein 668", "gene_name": "ZNF668", "organism": "Human", "refseq_name": "zinc finger protein 668 isoform a", "refseq_ac": "NP_001166139", "gene_names_uniprotkb": "ZNF668", "gene_names_refseq": "NEDGEF; ZNF668", "protein_names_uniprotkb": "Zinc finger protein 668", "protein_names_refseq": "zinc finger protein 668 isoform a", "tax_id": 9606, "disease": "neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies (MONDO:MONDO:0859350)", "pathway": " (hsa:79759); (R-HSA-212436)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;16959974;20068231;2163759;21852383;23186163;23777805;26633546;28649982;28832583;29242379;31154438;34313816;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation. May play a role in DNA repair process., [UniProtKB, PubMed]; ZNF668 deficiency causes a recognizable disorder of DNA damage repair., [RefSeq, PubMed]; ZNF668 is a key molecule that links chromatin relaxation with DNA damage response in DNA repair control., [RefSeq, PubMed]; ZNF668 was identified as a novel breast tumor suppressor protein that regeulates the stability p53 tumor suppression proteins., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JHH8;F5H7E7;Q59EV1;Q8N669;Q9H8L4", "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: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:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q96K58-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96N22-1", "uniprot_id": "ZN681_HUMAN", "mass": 75059.0, "length": 645, "protein_name": "Zinc finger protein 681", "gene_name": "ZNF681", "organism": "Human", "refseq_name": "zinc finger protein 681", "refseq_ac": "NP_612143", "gene_names_uniprotkb": "ZNF681", "gene_names_refseq": "ZNF681", "protein_names_uniprotkb": "Zinc finger protein 681", "protein_names_refseq": "zinc finger protein 681", "tax_id": 9606, "disease": "", "pathway": " (hsa:148213); (R-HSA-212436)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;29557506;32157095;34185709;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a protein containing the krueppel associated box (KRAB) and zinc-finger domains, which may be involved in transcriptional regulation. Non-functional alleles of this gene are present in alternate genome assemblies including T2T-CHM13v1.1, resulting from a 'TG' deletion (rs61397759) which causes a frameshift and a premature stop codon. [provided by RefSeq, Sep 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": 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": "B3KVF7", "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": 1.8, "record_id": "Q96N22-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NI8-1", "uniprot_id": "ZN570_HUMAN", "mass": 62330.0, "length": 536, "protein_name": "Zinc finger protein 570", "gene_name": "ZNF570", "organism": "Human", "refseq_name": "zinc finger protein 570 isoform 2", "refseq_ac": "NP_001308920", "gene_names_uniprotkb": "ZNF570", "gene_names_refseq": "ZNF570", "protein_names_uniprotkb": "Zinc finger protein 570", "protein_names_refseq": "zinc finger protein 570 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:148268); (R-HSA-212436)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25892735;29242379;31154438;31844290;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": 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": "A1L472;B4DMP1", "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: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;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q96NI8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PE6-1", "uniprot_id": "ZIM3_HUMAN", "mass": 54498.0, "length": 472, "protein_name": "Zinc finger imprinted 3", "gene_name": "ZIM3", "organism": "Human", "refseq_name": "zinc finger imprinted 3", "refseq_ac": "NP_443114", "gene_names_uniprotkb": "ZIM3; ZNF657", "gene_names_refseq": "ZIM3; ZNF657", "protein_names_uniprotkb": "Zinc finger imprinted 3; Zinc finger protein 657", "protein_names_refseq": "zinc finger imprinted 3; zinc finger protein 657", "tax_id": 9606, "disease": "", "pathway": " (hsa:114026); (R-HSA-212436)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10235266;10330177;11395415;11543637;14519192;15175151;15896744;16606702;16719718;2163759;33392160;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": "Q14CA6", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96PE6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96T25-1", "uniprot_id": "ZIC5_HUMAN", "mass": 65849.0, "length": 639, "protein_name": "Zinc finger protein ZIC 5", "gene_name": "ZIC5", "organism": "Human", "refseq_name": "zinc finger protein ZIC 5", "refseq_ac": "NP_149123", "gene_names_uniprotkb": "ZIC5", "gene_names_refseq": "ZIC5", "protein_names_uniprotkb": "Zinc finger protein ZIC 5; Zinc finger protein of the cerebellum 5", "protein_names_refseq": "Zic family member 5 (odd-paired homolog, Drosophila); zinc finger protein ZIC 5; zinc finger protein of the cerebellum 5", "tax_id": 9606, "disease": "holoprosencephaly (Disease Ontology:DOID:4621)", "pathway": " (hsa:85416)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "18669648;20199689;21406692;23481700;27932480;29242379;29786170;31848261;34475426;35927800;36495760;36752150;38747731", "class_list": "", "function": "Essential for neural crest development, converting cells from an epidermal fate to a neural crest cell fate. Binds to DNA (By similarity)., [UniProtKB]; LINC01116 Regulates the Proliferation and Apoptosis of Nucleus Pulposus Cells through miR-9-5p-mediated ZIC5 and the Wnt Pathway and Affects the Progression of Intervertebral Disc Degeneration., [RefSeq, PubMed]; MicroRNA-101-3p inhibits nasopharyngeal carcinoma cell proliferation and cisplatin resistance through ZIC5 down-regulation by targeting SOX2. Publication Status: Online-Only, [RefSeq, PubMed]; Research progress of ZIC5 for tumor metastasis. Review article, [RefSeq, PubMed]; This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. The encoded protein may act as a transcriptional repressor. Studies in mouse and Xenopus support a role for this gene in neural crest development. Elevated expression of this gene has been observed in various human cancers and may contribute to cancer progression. This gene is closely linked to a related family member on chromosome 13. [provided by RefSeq, Mar 2017]., [RefSeq]; Transcriptional expression of ZICs as an independent indicator of survival in gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; ZIC1, ZIC2, and ZIC5 may have roles in meningiomas Publication Status: Online-Only, [RefSeq, PubMed]; ZIC5 promotes aggressiveness and cancer stemness in cervical squamous cell carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 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": "Q5VYB0", "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:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q96T25-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0M4-1", "uniprot_id": "ZCPW1_HUMAN", "mass": 72007.0, "length": 648, "protein_name": "Zinc finger CW-type PWWP domain protein 1", "gene_name": "ZCWPW1", "organism": "Human", "refseq_name": "zinc finger CW-type PWWP domain protein 1 isoform 2", "refseq_ac": "NP_001244937", "gene_names_uniprotkb": "ZCWPW1", "gene_names_refseq": "ZCW1; ZCWPW1", "protein_names_uniprotkb": "Zinc finger CW-type PWWP domain protein 1", "protein_names_refseq": "zinc finger CW-type PWWP domain protein 1 isoform 2; zinc finger CW-type PWWP domain protein 1; zinc finger CW-type and PWWP domain 1; zinc finger, CW-type with PWWP domain 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55063)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11230166;11237011;20826339;23481700;24743338;25645385;25880248;26958812;29242379;29351928;30379171;32157095;32357974;32744506;35051231;35217607;35580925;36068616;38310235", "class_list": "", "function": "A loss-of-function variant in ZCWPW1 causes human male infertility with sperm head defect and high DNA fragmentation. Publication Status: Online-Only, [RefSeq, PubMed]; Dual histone methylation reader specific for PRDM9-catalyzed histone marks (H3K4me3 and H3K36me3) (PubMed:20826339, PubMed:32744506). Facilitates the repair of PRDM9-induced meiotic double-strand breaks (DSBs) (By similarity). Essential for male fertility and spermatogenesis (By similarity). Required for meiosis prophase I progression in male but not in female germ cells (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Of those 394 variants, 34 showed strong evidence of regulatory function (RegulomeDB score <3), and only 3 of them were genome-wide significant SNPs (ZCWPW1/rs1476679, CLU/rs1532278 and ABCA7/rs3764650). Publication Status: Online-Only, [RefSeq, PubMed]; PRDM9 losses in vertebrates are coupled to those of paralogs ZCWPW1 and ZCWPW2., [RefSeq, PubMed]; Rs1476679 polymorphism in ZCWPW1 is associated with late-onset Alzheimer's disease., [RefSeq, PubMed]; The histone modification reader ZCWPW1 promotes double-strand break repair by regulating cross-talk of histone modifications and chromatin accessibility at meiotic hotspots. Publication Status: Online-Only, [RefSeq, PubMed]; ZCWPW1 is recruited to recombination hotspots by PRDM9 and is essential for meiotic double strand break repair. 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": 1, "reported_mutagensis": 7, "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": "A8MVF5;B4DUQ2;Q8NA98;Q9BUD0;Q9NWF7", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0140002 histone H3K4me3 reader activity;GO:0140003 histone H3K36me3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005694 chromosome;GO:0001741 XY body", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0040029 epigenetic regulation of gene expression;GO:0007129 homologous chromosome pairing at meiosis;GO:2000781 positive regulation of double-strand break repair", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9H0M4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H7R5-1", "uniprot_id": "ZN665_HUMAN", "mass": 77640.0, "length": 678, "protein_name": "Zinc finger protein 665", "gene_name": "ZNF665", "organism": "Human", "refseq_name": "zinc finger protein 665 isoform 3", "refseq_ac": "NP_079009", "gene_names_uniprotkb": "ZNF665; ZFP160L", "gene_names_refseq": "ZFP160L; ZNF665", "protein_names_uniprotkb": "Zinc finger protein 665; Zinc finger protein 160-like", "protein_names_refseq": "zinc finger protein 665 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:79788); (R-HSA-212436)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;28218747;28832583;29557506;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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K5T8", "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_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:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9H7R5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H7S9-1", "uniprot_id": "ZN703_HUMAN", "mass": 58222.0, "length": 590, "protein_name": "Zinc finger protein 703", "gene_name": "ZNF703", "organism": "Human", "refseq_name": "zinc finger protein 703", "refseq_ac": "NP_079345", "gene_names_uniprotkb": "ZNF703; ZEPPO1; ZPO1", "gene_names_refseq": "NLZ1; ZEPPO1; ZNF503L; ZNF703; ZPO1", "protein_names_uniprotkb": "Zinc finger protein 703; Zinc finger elbow-related proline domain protein 1", "protein_names_refseq": "NocA-like zinc finger 1; zinc finger elbow-related proline domain protein 1; zinc finger protein 703", "tax_id": 9606, "disease": "", "pathway": " (hsa:80139); (R-HSA-212436)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;19330026;19413330;21317240;21328542;21337521;2163759;23186163;25576301;26992070;27600516;28832583;28834231;29242379;29331515;29393594;29557506;29786170;30429286;30524438;30620550;31154438;31844290;31848261;32157095;32271436;32387766;32488085;32897882;32938616;33214551;33246486;33389351;33392160;33592498;33968037;34171305;35051231;35254053;35580925;36010968;36284347;37541260;37938771;38665916;8183939;8769649;9637681;9653119", "class_list": "", "function": "Data show that FGFR1 and DDHD2 at 8p12 cooperated functionally with MYC, whereas CCND1 and ZNF703 cooperated with a dominant negative form of TP53., [RefSeq, PubMed]; Transcription factor ZNF703 activates linc-UBC1 to stimulate the progression of glioma., [RefSeq, PubMed]; Transcriptional corepressor which does not bind directly to DNA and may regulate transcription through recruitment of histone deacetylases to gene promoters. Regulates cell adhesion, migration and proliferation. May be required for segmental gene expression during hindbrain development., [UniProtKB, PubMed, PubMed]; ZNF703 expression results in the activation of stem cell-related gene expression leading to an increase in cancer stem cells. Erratum:[EMBO Mol Med. 2011 Mar;3(3). doi:10.1002/emmm.201000121], [RefSeq, PubMed]; ZNF703 gene copy number and protein expression in breast cancer; associations with proliferation, prognosis and luminal subtypes., [RefSeq, PubMed]; ZNF703 promotes tumor progression in ovarian cancer by interacting with HE4 and epigenetically regulating PEA15. 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q5XG76", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0016363 nuclear matrix;GO:0032991 protein-containing complex", "go_biological_process": "GO:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0030335 positive regulation of cell migration;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9H7S9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCG1-1", "uniprot_id": "ZN160_HUMAN", "mass": 94112.0, "length": 818, "protein_name": "Zinc finger protein 160", "gene_name": "ZNF160", "organism": "Human", "refseq_name": "zinc finger protein 160 isoform a", "refseq_ac": "NP_001096073", "gene_names_uniprotkb": "ZNF160; KIAA1611", "gene_names_refseq": "F11; HKr18; HZF5; KR18; ZNF160", "protein_names_uniprotkb": "Zinc finger protein 160; HKr18; Zinc finger protein HZF5; Zinc finger protein Kr18", "protein_names_refseq": "KRAB zinc finger protein KR18; zinc finger protein 160 isoform a; zinc finger protein 5; zinc finger protein HZF5; zinc finger protein Kr18", "tax_id": 9606, "disease": "", "pathway": " (hsa:90338); (R-HSA-212436)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10235266;10330177;11214971;11237011;11395415;11410164;14519192;15175151;15896744;16606702;16719718;19846881;2163759;24715725;26992070;28228285;28514659;28855257;28904123;29242379;29493099;29557506;30429286;30484775;31154438;31217245;31844290;32157095;32938616;33968037;35051231;35580925;38665916;7865130;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; TLR4 gene transcription was repressed by epigenetic regulations, which were, at least in part, dependent on ZNF160., [RefSeq, PubMed]; The protein encoded by this gene is a Kruppel-related zinc finger protein which is characterized by the presence of an N-terminal repressor domain, the Kruppel-associated box (KRAB). The KRAB domain is a potent repressor of transcription; thus this protein may function in transcription regulation. Multiple transcript variants have been found for this gene. [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": 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": "Q14589;Q504Q8;Q96JC5;Q9BVY9;Q9H7N6", "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:0030097 hemopoiesis;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9HCG1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCK1-1", "uniprot_id": "ZDBF2_HUMAN", "mass": 265618.0, "length": 2354, "protein_name": "DBF4-type zinc finger-containing protein 2", "gene_name": "ZDBF2", "organism": "Human", "refseq_name": "DBF4-type zinc finger-containing protein 2 isoform 1", "refseq_ac": "NP_065974", "gene_names_uniprotkb": "ZDBF2; KIAA1571", "gene_names_refseq": "ZDBF2", "protein_names_uniprotkb": "DBF4-type zinc finger-containing protein 2", "protein_names_refseq": "DBF4-type zinc finger-containing protein 2 isoform 1; DBF4-type zinc finger-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57683)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;17081983;18669648;19200453;22544926;23301498;23481700;24715725;25576301;26811146;26992070;27139419;27600516;27920218;28832583;28834231;28904123;29237092;29242379;29393594;29508533;29557506;29769354;30379171;31222486;31844290;31848261;32157095;32357974;32938616;33298915;33592498;33912179;33968037;34171305;34405274;35051231;35561310", "class_list": "", "function": "Exome sequencing identified a de novo heterozygous frameshift dinucleotide insertion c.6245_6246 insTT (p.His2082fs*67) in ZDBF2 (zinc finger, DBF-type containing 2), a gene located at 2q33.3. This variant was absent in parental DNA, in a set of 300 ethnically matched controls, and in public exome variant databases, [RefSeq, PubMed]; The human homolog (ZDBF2) of the mouse Zdbf2 gene showed paternal allele-specific expression in human lymphocytes but not in the human placenta., [RefSeq, PubMed]; This gene encodes a protein containing DBF4-type zinc finger domains. This gene is imprinted and paternally expressed in lymphocytes but is more stochastically expressed in the placenta. Alternative splicing results in multiple transcript variants. [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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 88, "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": "Q6ZNP7;Q6ZSN8", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding", "go_cellular_component": "", "go_biological_process": "GO:0071514 genomic imprinting", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9HCK1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NV72-1", "uniprot_id": "ZN701_HUMAN", "mass": 60903.0, "length": 531, "protein_name": "Zinc finger protein 701", "gene_name": "ZNF701", "organism": "Human", "refseq_name": "zinc finger protein 701 isoform 1", "refseq_ac": "NP_001166126", "gene_names_uniprotkb": "ZNF701", "gene_names_refseq": "ZNF701", "protein_names_uniprotkb": "Zinc finger protein 701", "protein_names_refseq": "zinc finger protein 701 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55762); (R-HSA-212436)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;26375851;28832583;29557506;31154438;32938616;34050117;35051231;36010968;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Mediating effect of genome-wide DNA methylation on suicidal ideation induced by perceived stress., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A2RRM8;B9EGF2;F5GZM6;Q66K42", "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": 2.4, "record_id": "Q9NV72-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJU3-1", "uniprot_id": "ZN112_HUMAN", "mass": 105842.0, "length": 913, "protein_name": "Zinc finger protein 112", "gene_name": "ZNF112", "organism": "Human", "refseq_name": "zinc finger protein 112 isoform 1", "refseq_ac": "NP_001076804", "gene_names_uniprotkb": "ZNF112; ZFP112; ZNF228", "gene_names_refseq": "ZFP112; ZNF112; ZNF228", "protein_names_uniprotkb": "Zinc finger protein 112; Zfp-112; Zinc finger protein 228", "protein_names_refseq": "zinc finger protein 112 (Y14); zinc finger protein 112 homolog; zinc finger protein 112 isoform 1; zinc finger protein 228", "tax_id": 9606, "disease": "", "pathway": " (hsa:7771); (R-HSA-212436)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10235266;10330177;11237011;11395415;12743021;14519192;15175151;15896744;16606702;16719718;2163759;26154972;30379171;30410026;32938616;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": "A4FU53;Q9HCA7", "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:0001650 fibrillar center", "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": "Q9UJU3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJW7-1", "uniprot_id": "ZN229_HUMAN", "mass": 93767.0, "length": 825, "protein_name": "Zinc finger protein 229", "gene_name": "ZNF229", "organism": "Human", "refseq_name": "zinc finger protein 229 isoform 1", "refseq_ac": "NP_055333", "gene_names_uniprotkb": "ZNF229", "gene_names_refseq": "ZNF229", "protein_names_uniprotkb": "Zinc finger protein 229", "protein_names_refseq": "zinc finger protein 229 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7772)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;12743021;28228285;30379171", "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": "B2RWN3;Q59FV2;Q86WL9", "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: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": 0.7, "record_id": "Q9UJW7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UK13-1", "uniprot_id": "ZN221_HUMAN", "mass": 71197.0, "length": 617, "protein_name": "Zinc finger protein 221", "gene_name": "ZNF221", "organism": "Human", "refseq_name": "zinc finger protein 221", "refseq_ac": "NP_001284517", "gene_names_uniprotkb": "ZNF221", "gene_names_refseq": "ZNF221", "protein_names_uniprotkb": "Zinc finger protein 221", "protein_names_refseq": "zinc finger protein 221", "tax_id": 9606, "disease": "", "pathway": " (hsa:7638); (R-HSA-212436)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10235266;10330177;11237011;11395415;12743021;14519192;15175151;15896744;16606702;16719718;2163759;29789417;34932366;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": "A0A087WT08;B2RAI6;K7EIT6;Q2M2H2;Q9P1U8", "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:0005654 nucleoplasm", "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": "Q9UK13-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0K0K1B3-1", "uniprot_id": "TVB30_HUMAN", "mass": 12225.0, "length": 111, "protein_name": "T cell receptor beta variable 30", "gene_name": "TRBV30", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV30", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 30", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A0A075B6Q1;A0A0A6YYU8;A0A5C0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0K0K1B3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0U1RRN3-1", "uniprot_id": "MISFA_HUMAN", "mass": 6977.0, "length": 59, "protein_name": "Mitochondrial sheath formation-associated protein", "gene_name": "MISFA", "organism": "Human", "refseq_name": "mitochondrial sheath formation-associated protein", "refseq_ac": "NP_001342499", "gene_names_uniprotkb": "MISFA; SPTY2D1-AS1; SPTY2D1OS", "gene_names_refseq": "Kastor; MISFA; Polluks; SPTY2D1-AS1; SPTY2D1OS; TSCL1", "protein_names_uniprotkb": "Mitochondrial sheath formation-associated protein; Putative transmembrane protein SPTY2D1OS; SPTY2D1 antisense RNA 1; SPTY2D1 opposite strand", "protein_names_refseq": "SPTY2D1 antisense RNA 1 (non-protein coding); SPTY2D1 opposite strand; mitochondrial sheath formation-associated protein; putative transmembrane protein SPTY2D1OS; testis-specific conserved lncRNA 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100506540)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;35562181", "class_list": "", "function": "Identification of an interactome network between lncRNAs and miRNAs in thyroid cancer reveals SPTY2D1-AS1 as a new tumor suppressor. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates sperm development. May be involved in mitochondrial sheath formation., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0A0U1RQZ7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005741 mitochondrial outer membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0A0U1RRN3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GUS4-1", "uniprot_id": "UB2L5_HUMAN", "mass": 17875.0, "length": 154, "protein_name": "Ubiquitin-conjugating enzyme E2 L5", "gene_name": "UBE2L5", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 L5", "refseq_ac": "NP_001342176", "gene_names_uniprotkb": "UBE2L5", "gene_names_refseq": "UBCH7N2; UBE2L5P; UBE2L5", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 L5; 2.3.2.23; Ubiquitin-protein ligase L5", "protein_names_refseq": "ubiquitin-conjugating enzyme E2 L5; ubiquitin-protein ligase L5", "tax_id": 9606, "disease": "", "pathway": " (hsa:171222)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "29557506;31844290;32350084;32387766;32488085;37938771", "class_list": "", "function": "Catalyzes the covalent attachment of ubiquitin to other proteins., [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:0005524 ATP binding;GO:0016874 ligase activity;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0070979 protein K11-linked ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A1B0GUS4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A5B6-1", "uniprot_id": "TVB28_HUMAN", "mass": 13166.0, "length": 114, "protein_name": "T cell receptor beta variable 28", "gene_name": "TRBV28", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV28; TCRBV3S1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 28", "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": 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": 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": "A0A0G2JN94", "ec_number_list": "", "go_molecular_function": "GO:0042605 peptide antigen binding", "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": "A0A5B6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "I3L3L1-1", "uniprot_id": "AL17B_HUMAN", "mass": 19784.0, "length": 181, "protein_name": "Putative ADP-ribosylation factor-like protein 17B", "gene_name": "ARL17A; ARL17B", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 17 isoform d", "refseq_ac": "NP_001350734", "gene_names_uniprotkb": "ARL17A; ARL17B; ARL17A; ARL17B; ARL17", "gene_names_refseq": "ARL17B; ARL17", "protein_names_uniprotkb": "Putative ADP-ribosylation factor-like protein 17B", "protein_names_refseq": "ADP ribosylation factor like GTPase 17B; ADP-ribosylation factor 7; ADP-ribosylation factor-like 17B; ADP-ribosylation factor-like protein 17 isoform d; ADP-ribosylation factor-like protein 17", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "11237011;30429286", "class_list": "", "function": "Putative small GTP-binding protein cycling between an inactive GDP-bound and an active GTP-bound form., [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:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0015031 protein transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "I3L3L1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N823-1", "uniprot_id": "ZN611_HUMAN", "mass": 81449.0, "length": 705, "protein_name": "Zinc finger protein 611", "gene_name": "ZNF611", "organism": "Human", "refseq_name": "zinc finger protein 611 isoform a", "refseq_ac": "NP_001154971", "gene_names_uniprotkb": "ZNF611", "gene_names_refseq": "ZNF611", "protein_names_uniprotkb": "Zinc finger protein 611", "protein_names_refseq": "zinc finger protein 611 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:81856); (R-HSA-212436)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10.1101/2023.09.13.557529;10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26992070;28832583;29242379;29632046;32157095;32161166;33912179;33936100;33968037;34087483;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": 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": 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": "B3KRD5;Q69YG9", "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:0005694 chromosome", "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": 2.9, "record_id": "Q8N823-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZQV5-1", "uniprot_id": "ZN788_HUMAN", "mass": 9552.0, "length": 82, "protein_name": "Putative KRAB domain-containing protein ZNF788", "gene_name": "ZNF788P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ZNF788P; ZNF788", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative KRAB domain-containing protein ZNF788; Zinc finger family member 788, pseudogene", "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": "A0A0A0MSK0;M0R3I2;Q6ZRE4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q6ZQV5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TBF4-1", "uniprot_id": "ZCRB1_HUMAN", "mass": 24592.0, "length": 217, "protein_name": "Zinc finger CCHC-type and RNA-binding motif-containing protein 1", "gene_name": "ZCRB1", "organism": "Human", "refseq_name": "zinc finger CCHC-type and RNA-binding motif-containing protein 1", "refseq_ac": "NP_149105", "gene_names_uniprotkb": "ZCRB1", "gene_names_refseq": "MADP-1; MADP1; RBM36; SNRNP31; ZCCHC19; ZCRB1", "protein_names_uniprotkb": "Zinc finger CCHC-type and RNA-binding motif-containing protein 1; U11/U12 small nuclear ribonucleoprotein 31 kDa protein; U11/U12 snRNP 31 kDa protein; U11/U12-31K", "protein_names_refseq": "U11/U12 small nuclear ribonucleoprotein 31 kDa protein; U11/U12 snRNP 31 kDa protein; U11/U12 snRNP 31K; U11/U12-31K; zinc finger CCHC-type and RNA binding motif 1; zinc finger CCHC-type and RNA-binding motif-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:85437); (R-HSA-72165); (R-HSA-9682706); (R-HSA-9694686)", "pathway_count": 4, "publication_count": 48, "publication_id_list": "10207048;11237011;11333026;11607023;15146077;15944288;16959469;17081983;17693683;17940139;18452278;18669648;18767875;19052544;19224332;19413330;19651622;19690332;20068231;21406692;22301153;22362731;2524422;25576301;25732088;26992070;27510544;27600516;28218747;28649982;28855257;29393594;29437277;29557506;30315122;31217245;31844290;31848261;32157095;32387766;32938616;33298915;33392160;33592498;33691108;33912179;35051231;8835860", "class_list": "", "function": "Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq, Jul 2008]., [RefSeq]; The 5'-flanking region contains an enhancer core motif and binding sites for AP-1, AP-2, and LF-A1. ZCRB1 is characterized by an RNA-binding motif and a CCHC zinc finger motif., [RefSeq, PubMed]; Using small interfering RNA against MADP1, defective viral RNA synthesis was observed in the knockdown cells, therefore indicating the importance of the protein in coronaviral RNA synthesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q6PJX0;Q96TA6", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005689 U12-type spliceosomal complex", "go_biological_process": "GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8TBF4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DKX0-1", "uniprot_id": "ZN728_HUMAN", "mass": 71801.0, "length": 622, "protein_name": "Zinc finger protein 728", "gene_name": "ZNF728", "organism": "Human", "refseq_name": "zinc finger protein 728", "refseq_ac": "NP_001254645", "gene_names_uniprotkb": "ZNF728", "gene_names_refseq": "ZNF728", "protein_names_uniprotkb": "Zinc finger protein 728", "protein_names_refseq": "zinc finger protein 728", "tax_id": 9606, "disease": "", "pathway": " (hsa:388523)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;30379171;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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: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:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P0DKX0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q641Q2-1", "uniprot_id": "WAC2A_HUMAN", "mass": 147184.0, "length": 1341, "protein_name": "WASH complex subunit 2A", "gene_name": "WASHC2A", "organism": "Human", "refseq_name": "WASH complex subunit 2A isoform 1", "refseq_ac": "NP_001005751", "gene_names_uniprotkb": "WASHC2A; FAM21A; FAM21B", "gene_names_refseq": "FAM21A; FAM21B; WASHC2A; bA56A21.1; bA98I6.1", "protein_names_uniprotkb": "WASH complex subunit 2A", "protein_names_refseq": "WASH complex subunit 2A isoform 1; WASH complex subunit FAM21A; WASH complex subunit FAM21B; alternative protein FAM21B; family with sequence similarity 21 member A; family with sequence similarity 21, member B", "tax_id": 9606, "disease": "", "pathway": " (hsa:387680)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "11237011;16964243;18452278;18669648;18767875;19413330;19651622;19664994;19690332;20058876;20068231;21406692;23186163;24715725;25355947;25505266;26956659;27543614;27846572;27920218;28228285;28514659;28832583;28834231;28892079;28904123;29084197;29242379;29393594;29508533;29557506;29632046;29632711;29735545;29769354;29786170;29789417;30315122;30410026;30429286;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32938616;32983136;33123756;33298915;33592498;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37938771;38029687;39302247", "class_list": "", "function": "Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission. Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1. Required for the association of DNAJC13, ENTR1, ANKRD50 with retromer CSC subunit VPS35. Required for the endosomal recruitment of CCC complex subunits COMMD1 and CCDC93 as well as the retriever complex subunit VPS35L., [UniProtKB, PubMed, PubMed]; FAM21 interacts with Ku to promote the localization of WASH to DNA double strand break sites., [RefSeq, PubMed]; SNX27 interaction with FAM21 is required for the precise localization of SNX27 at an endosomal subdomain. Publication Status: Online-Only, [RefSeq, PubMed]; Study reports that nuclear IGF1R associates with advanced tumor stage and is recruited selectively to regulatory regions of chromatin including JUN and FAM21A promoters. JUN and FAM21A identified as mediators of cell survival and IGF-induced migration, properties that tumors require to attain advanced stage., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 46, "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": "A2A3S2;A2A3U6;Q5SNT6;Q6DHY0", "ec_number_list": "", "go_molecular_function": "GO:1901981 phosphatidylinositol phosphate binding;GO:1905394 retromer complex binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031901 early endosome membrane;GO:0071203 WASH complex", "go_biological_process": "GO:0015031 protein transport;GO:0016197 endosomal transport;GO:0036010 protein localization to endosome;GO:0034315 regulation of Arp2/3 complex-mediated actin nucleation;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q641Q2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5SXM1-1", "uniprot_id": "ZN678_HUMAN", "mass": 61411.0, "length": 525, "protein_name": "Zinc finger protein 678", "gene_name": "ZNF678", "organism": "Human", "refseq_name": "zinc finger protein 678 isoform 2", "refseq_ac": "NP_001354838", "gene_names_uniprotkb": "ZNF678", "gene_names_refseq": "ZNF678", "protein_names_uniprotkb": "Zinc finger protein 678", "protein_names_refseq": "hypothetical protein MGC42493; zinc finger protein 678 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:339500); (R-HSA-212436)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;20546612;20846217;2163759;26992070;28832583;29632046;31217245;33968037;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [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": 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": 36, "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": "Q8IVQ9", "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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q5SXM1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N1W2-1", "uniprot_id": "ZN710_HUMAN", "mass": 74461.0, "length": 664, "protein_name": "Zinc finger protein 710", "gene_name": "ZNF710", "organism": "Human", "refseq_name": "zinc finger protein 710", "refseq_ac": "NP_940928", "gene_names_uniprotkb": "ZNF710", "gene_names_refseq": "ZNF710", "protein_names_uniprotkb": "Zinc finger protein 710", "protein_names_refseq": "zinc finger protein 710", "tax_id": 9606, "disease": "", "pathway": " (hsa:374655); (R-HSA-212436)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;22645359;24715725;26992070;27846572;27920218;28832583;28904123;29242379;29493099;29508533;29557506;30315122;30410026;31324691;31530632;31844290;31848261;32157095;32236626;32357974;32387766;32983136;33633747;33691108;33717175;33912179;33936100;34171305;34932366;35051231;35580925;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; Overexpression of antisense long noncoding RNA ZNF710AS1202 promotes cell proliferation and inhibits apoptosis of clear cell renal cell carcinoma via regulation of ZNF710 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": 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": "A0AVS3;Q6ZMK9;Q8NDU0", "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", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q8N1W2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6X8-1", "uniprot_id": "ZHX2_HUMAN", "mass": 92307.0, "length": 837, "protein_name": "Zinc fingers and homeoboxes protein 2", "gene_name": "ZHX2", "organism": "Human", "refseq_name": "zinc fingers and homeoboxes protein 2 isoform 1", "refseq_ac": "NP_055758", "gene_names_uniprotkb": "ZHX2; AFR1; KIAA0854; RAF", "gene_names_refseq": "AFR1; RAF; ZHX2", "protein_names_uniprotkb": "Zinc fingers and homeoboxes protein 2; AFP regulator 1; Alpha-fetoprotein regulator 1; Regulator of AFP; Zinc finger and homeodomain protein 2", "protein_names_refseq": "AFP regulator 1; alpha-fetoprotein regulator 1; regulator of AFP; transcription factor ZHX2; zinc finger and homeodomain protein 2; zinc fingers and homeoboxes protein 2 isoform 1; zinc fingers and homeoboxes protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:22882)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "11237011;12741956;14659886;16952470;17056598;18491316;19413330;20509910;23186163;23301498;23481700;24275569;24715725;25418920;25576301;25645385;26154972;26992070;27034005;27846572;27862975;27920218;28218747;28228285;28657654;28832583;28834231;28904123;29242379;29351928;29437277;29485866;29493099;29557506;29632711;29786170;30429286;30524438;30779550;31492838;31844290;31848261;32157095;32357974;32574038;32897882;32983136;33214551;33298915;33633747;33717175;33912179;33936100;34019948;34087483;34725712;35051231;35138101;35251023;35254053;35513511;35580925;36010968;36037364;36241641;36284347;36746874;37582865;37847682;38665916;39159608;40307207;40596516", "class_list": "", "function": "Acts as a transcriptional repressor (PubMed:12741956). Represses the promoter activity of the CDC25C gene stimulated by NFYA (PubMed:12741956). May play a role in retinal development where it regulates the composition of bipolar cell populations, by promoting differentiation of bipolar OFF-type cells (By similarity). In the brain, may promote maintenance and suppress differentiation of neural progenitor cells in the developing cortex (By similarity)., [UniProtKB, UniProtKB, PubMed]; Elongation of very long chain fatty acids-3 (Elovl3) is activated by ZHX2 and is a regulator of cell cycle progression., [RefSeq, PubMed]; Identification as a transcriptional repressor, [RefSeq, PubMed]; METTL3 and IGF2BP1-Mediated m6A Modification of ZHX2 Promotes Tumor Property of Renal Cell Carcinoma., [RefSeq, PubMed]; The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor Zhx2 is a checkpoint that programs macrophage polarization and antitumor response., [RefSeq, PubMed]; USP13 promotes deubiquitination of ZHX2 and tumorigenesis in kidney cancer., [RefSeq, PubMed]; ZHX proteins 1, 2 and 3 are major transcriptional mediators of podocyte disease Erratum:[J Biol Chem. 2007 Apr 27;282(17):13140], [RefSeq, PubMed]; ZHX2, a transcriptional repressor, may participate in globin gene regulation., [RefSeq, PubMed]; Zinc fingers and homeoboxes 2 inhibition could suppress the proliferation of ovarian cancer cells by apoptosis 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": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;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:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0060040 retinal bipolar neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9Y6X8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86TJ5-1", "uniprot_id": "ZN554_HUMAN", "mass": 60582.0, "length": 538, "protein_name": "Zinc finger protein 554", "gene_name": "ZNF554", "organism": "Human", "refseq_name": "zinc finger protein 554", "refseq_ac": "NP_001096121", "gene_names_uniprotkb": "ZNF554", "gene_names_refseq": "ZNF554", "protein_names_uniprotkb": "Zinc finger protein 554", "protein_names_refseq": "zinc finger protein 554", "tax_id": 9606, "disease": "", "pathway": " (hsa:115196); (R-HSA-212436)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;29557506;30429286;32157095;32796700;33717175;33912179;33968037;35580925;36284347;36581221;37804692;38619681;8183939;8769649;9637681;9653119", "class_list": "", "function": "Decreased Expression of ZNF554 in Gliomas is Associated with the Activation of Tumor Pathways and Shorter Patient Survival. Publication Status: Online-Only, [RefSeq, PubMed]; Dysfunction of ZNF554 promotes ROS-induced apoptosis and autophagy in Fetal Growth Restriction via the p62-Keap1-Nrf2 pathway., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; ZNF554 Inhibits Endometrial Cancer Progression via Regulating RBM5 and Inactivating WNT/beta-Catenin 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8NAT3;Q9BWN3", "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:0005730 nucleolus", "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": "Q86TJ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15697-1", "uniprot_id": "ZN174_HUMAN", "mass": 46455.0, "length": 407, "protein_name": "Zinc finger protein 174", "gene_name": "ZNF174", "organism": "Human", "refseq_name": "zinc finger protein 174 isoform b", "refseq_ac": "NP_001027463", "gene_names_uniprotkb": "ZNF174; ZSCAN8", "gene_names_refseq": "ZNF174; ZSCAN8", "protein_names_uniprotkb": "Zinc finger protein 174; AW-1; Zinc finger and SCAN domain-containing protein 8", "protein_names_refseq": "AW-1; zinc finger and SCAN domain-containing protein 8; zinc finger protein 174 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:7727)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;11741982;15592455;15629724;19007248;28904123;30379171;31844290;33298915;33968037;7673192", "class_list": "", "function": "Both size exclusion chromatography and equilibrium sedimentation analysis demonstrate that the ZNF174 SCAN domain forms a homodimer, [RefSeq, PubMed]; This gene encodes a protein with three Cys2-His2-type zinc fingers in the carboxy-terminus, a putative nuclear localization signal, and an amino-terminus SCAN box which forms homodimers. This protein is believed to function as a transcriptional repressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]., [RefSeq]; Transcriptional repressor., [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": 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": "Q53Y68;Q9BQ34", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;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:0001650 fibrillar center;GO:0016604 nuclear body;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q15697-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1J7-1", "uniprot_id": "WNT5B_HUMAN", "mass": 40323.0, "length": 359, "protein_name": "Protein Wnt-5b", "gene_name": "WNT5B", "organism": "Human", "refseq_name": "protein Wnt-5b precursor", "refseq_ac": "NP_110402", "gene_names_uniprotkb": "WNT5B", "gene_names_refseq": "WNT5B", "protein_names_uniprotkb": "Protein Wnt-5b", "protein_names_refseq": "WNT-5B protein; protein Wnt-5b precursor; protein Wnt-5b; wingless-type MMTV integration site family, member 5B", "tax_id": 9606, "disease": "leiomyoma (Disease Ontology:DOID:127)", "pathway": " (hsa:81029); (R-HSA-3238698); (R-HSA-4086400)", "pathway_count": 3, "publication_count": 124, "publication_id_list": "10.1101/2023.09.13.557529;10694878;10698942;10862746;11031247;11101902;11231171;11237011;11358862;11433298;11445850;11751577;11779461;12015986;12134165;12165812;12533515;12717451;12839624;14636582;15143170;15169958;15501440;15608632;15936275;16116452;16280981;16364628;16495441;16602827;16645052;16678095;16678096;16723543;16971168;17021034;17108000;17117926;17130287;17141155;17373907;17397399;17433286;17627283;18160347;18160348;18162551;18193032;18193037;18215320;18256687;18430724;18719708;18798527;19365405;19442504;19523939;19530173;19566487;19589360;19619488;19837038;20004982;20006983;20477987;20533886;20803696;20826466;20940229;21316585;21554866;21725318;21725319;21768372;21886182;22027831;22041890;22046319;22094269;22094272;22108505;22653731;22773843;22784633;22888000;22952392;22983114;23090970;23109420;23140633;23144463;23148298;23260141;23396967;23821037;24190977;25418920;27846572;27920218;28063628;28228285;28832583;29242379;29632046;31611695;31844290;32350084;32357974;32938616;33936100;33968037;34846842;34906330;35251023;35289036;37971882;38531660;38689429;39094673;8167409;8262072;8985181;9674432;9716412", "class_list": "", "function": "DLL4/Notch3/WNT5B axis mediates bidirectional prometastatic crosstalk between melanoma and lymphatic endothelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; Estrogen receptor alpha and NFATc1 bind to a bone mineral density-associated SNP to repress WNT5B in osteoblasts., [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity)., [UniProtKB]; Role of Wnt5b-Ror1 signaling in the proliferation of pancreatic ductal adenocarcinoma cells., [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 94% and 80% amino acid identity to the mouse Wnt5b protein and the human WNT5A protein, respectively. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]; WNT5B drives osteosarcoma stemness, chemoresistance and metastasis., [RefSeq, PubMed]; WNT5B promotes the malignant phenotype of non-small cell lung cancer via the FZD3-DVL3-RAC1-PCP-JNK pathway., [RefSeq, PubMed]; WNT5b is upregulated by beta-estradiol in tumor cell lines, [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 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": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K315;D3DUP9;Q96S49;Q9BV04", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005109 frizzled binding;GO:0005125 cytokine 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:0030335 positive regulation of cell migration;GO:0071300 cellular response to retinoic acid;GO:0030182 neuron differentiation;GO:0045444 fat cell differentiation;GO:0060070 canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9H1J7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "B4DX44-1", "uniprot_id": "ZN736_HUMAN", "mass": 49868.0, "length": 427, "protein_name": "Zinc finger protein 736", "gene_name": "ZNF736", "organism": "Human", "refseq_name": "zinc finger protein 736 isoform 1", "refseq_ac": "NP_001164376", "gene_names_uniprotkb": "ZNF736", "gene_names_refseq": "ZNF736", "protein_names_uniprotkb": "Zinc finger protein 736", "protein_names_refseq": "KRAB-containing zinc-finger repressor protein; zinc finger protein 736 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:728927); (R-HSA-212436)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26992070;28834231;31217245;31844290;32938616;33912179;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": 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: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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "B4DX44-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N859-1", "uniprot_id": "ZN713_HUMAN", "mass": 51563.0, "length": 443, "protein_name": "Zinc finger protein 713", "gene_name": "ZNF713", "organism": "Human", "refseq_name": "zinc finger protein 713 isoform 1", "refseq_ac": "NP_872439", "gene_names_uniprotkb": "ZNF713", "gene_names_refseq": "ZNF713", "protein_names_uniprotkb": "Zinc finger protein 713", "protein_names_refseq": "zinc finger protein 713 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:349075); (R-HSA-212436)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25196122;26375851;28228285;29786170;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; The protein encoded by this gene contains C2H2 zinc finger domains. In some individuals, a CGG-repeat expansion from 5-22 repeats to 68-450 repeats has been identified in the first intron of this gene. This mutation is thought to effect the expression of this gene and it has been proposed that it may be associated with Autistic Spectrum Disorder. [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": 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": "A0A0M3HEQ9", "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:0019843 rRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005763 mitochondrial small ribosomal subunit;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8N859-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7L3S4-1", "uniprot_id": "ZN771_HUMAN", "mass": 35702.0, "length": 317, "protein_name": "Zinc finger protein 771", "gene_name": "ZNF771", "organism": "Human", "refseq_name": "zinc finger protein 771", "refseq_ac": "NP_001135777", "gene_names_uniprotkb": "ZNF771", "gene_names_refseq": "DSC43; ZNF771", "protein_names_uniprotkb": "Zinc finger protein 771; Mesenchymal stem cell protein DSC43", "protein_names_refseq": "mesenchymal stem cell protein DSC43; zinc finger protein 771", "tax_id": 9606, "disease": "", "pathway": " (hsa:51333); (R-HSA-212436)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;26992070;27846572;28063628;28832583;29242379;29393594;29632046;30429286;32157095;33717175;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": 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": "Q8TAQ7;Q9NYI6", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion 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: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": 2.7, "record_id": "Q7L3S4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJN7-1", "uniprot_id": "ZN391_HUMAN", "mass": 40659.0, "length": 358, "protein_name": "Zinc finger protein 391", "gene_name": "ZNF391", "organism": "Human", "refseq_name": "zinc finger protein 391", "refseq_ac": "NP_001070249", "gene_names_uniprotkb": "ZNF391", "gene_names_refseq": "ZNF391; dJ153G14.3", "protein_names_uniprotkb": "Zinc finger protein 391", "protein_names_refseq": "zinc finger protein 391", "tax_id": 9606, "disease": "", "pathway": " (hsa:346157)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;29557506;30379171;33822213;37217939", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Spatial Expression Pattern of ZNF391 Gene in the Brains of Patients With Schizophrenia, Bipolar Disorders or Major Depressive Disorder Identifies New Cross-Disorder Biotypes: A Trans-Diagnostic, Top-Down Approach., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DH77", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9UJN7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P17021-1", "uniprot_id": "ZNF17_HUMAN", "mass": 77204.0, "length": 662, "protein_name": "Zinc finger protein 17", "gene_name": "ZNF17", "organism": "Human", "refseq_name": "zinc finger protein 17 isoform 1", "refseq_ac": "NP_001317546", "gene_names_uniprotkb": "ZNF17; KIAA1947; KOX10", "gene_names_refseq": "HPF3; KOX10; ZNF17", "protein_names_uniprotkb": "Zinc finger protein 17; Zinc finger protein HPF3; Zinc finger protein KOX10", "protein_names_refseq": "zinc finger protein 17 (HPF3, KOX 10); zinc finger protein 17 isoform 1; zinc finger protein HPF3; zinc finger protein KOX10", "tax_id": 9606, "disease": "", "pathway": " (hsa:7565); (R-HSA-212436)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;2288909;30379171;31154438;31844290;32357974;32938616;33968037;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": "B3KXU2;B3KY20;Q8N7M1;Q8N893;Q8TF54", "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": 2.4, "record_id": "P17021-1", "record_type": "protein" }, { "uniprot_canonical_ac": "B4DXR9-1", "uniprot_id": "ZN732_HUMAN", "mass": 67839.0, "length": 585, "protein_name": "Zinc finger protein 732", "gene_name": "ZNF732", "organism": "Human", "refseq_name": "zinc finger protein 732", "refseq_ac": "NP_001131080", "gene_names_uniprotkb": "ZNF732", "gene_names_refseq": "ZNF732", "protein_names_uniprotkb": "Zinc finger protein 732", "protein_names_refseq": "zinc finger protein 732; zinc finger protein LOC654254", "tax_id": 9606, "disease": "", "pathway": " (hsa:654254); (R-HSA-212436)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;27893789;29242379;31844290;35051231;38838015;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a kruppel-associated box-containing zinc finger protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and sixteen C-terminal C2H2-type zinc finger domains. The KRAB-ZFPs represent the largest family of mammalian transcriptional repressors, which function through the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to engage histone modifiers and induce heterochromatin formation. [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": 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": 1, "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: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": 2.1, "record_id": "B4DXR9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q68DI1-1", "uniprot_id": "ZN776_HUMAN", "mass": 59613.0, "length": 518, "protein_name": "Zinc finger protein 776", "gene_name": "ZNF776", "organism": "Human", "refseq_name": "zinc finger protein 776 isoform 2", "refseq_ac": "NP_001334936", "gene_names_uniprotkb": "ZNF776", "gene_names_refseq": "ZNF776", "protein_names_uniprotkb": "Zinc finger protein 776", "protein_names_refseq": "zinc finger protein 776 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:284309); (R-HSA-212436)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25218447;26992070;27397612;28832583;29242379;30315122;30429286;31844290;31998317;32157095;32357974;32938616;33592498;33968037;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": "Q6ZS36;Q8N968", "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:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q68DI1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96BV0-1", "uniprot_id": "ZN775_HUMAN", "mass": 59752.0, "length": 537, "protein_name": "Zinc finger protein 775", "gene_name": "ZNF775", "organism": "Human", "refseq_name": "zinc finger protein 775", "refseq_ac": "NP_775951", "gene_names_uniprotkb": "ZNF775", "gene_names_refseq": "ZNF775", "protein_names_uniprotkb": "Zinc finger protein 775", "protein_names_refseq": "zinc finger protein 775", "tax_id": 9606, "disease": "", "pathway": " (hsa:285971); (R-HSA-212436)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;17081983;2163759;29557506;30379171;31844290;32157095;32265295;32387766;33298915;33981976;34561969;35051231;36241641;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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8IY24", "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", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q96BV0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULJ6-1", "uniprot_id": "ZMIZ1_HUMAN", "mass": 115483.0, "length": 1067, "protein_name": "Zinc finger MIZ domain-containing protein 1", "gene_name": "ZMIZ1", "organism": "Human", "refseq_name": "zinc finger MIZ domain-containing protein 1", "refseq_ac": "NP_065071", "gene_names_uniprotkb": "ZMIZ1; KIAA1224; RAI17; ZIMP10", "gene_names_refseq": "MIZ; NEDDFSA; RAI17; TRAFIP10; ZIMP10; ZMIZ1", "protein_names_uniprotkb": "Zinc finger MIZ domain-containing protein 1; PIAS-like protein Zimp10; Retinoic acid-induced protein 17", "protein_names_refseq": "retinoic acid induced 17; zinc finger MIZ domain-containing protein 1; zinc finger-containing, Miz1, PIAS-like protein on chromosome 10", "tax_id": 9606, "disease": "end stage renal disease (Disease Ontology:DOID:783); neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (MONDO:MONDO:0032855)", "pathway": " (hsa:57178)", "pathway_count": 1, "publication_count": 83, "publication_id_list": "14609956;16777850;16959974;17584785;17967885;18007576;23481700;24715725;25218447;25576301;25645385;25755297;25772364;25880248;26522984;26811146;26992070;27543614;27600516;27846572;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29786170;30315122;30429286;30524438;30639322;30833945;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35138101;35318648;35561310;35580925;36010968;36241641;36284347;37938771;38332346;38665916;38718095;38866828;39062631", "class_list": "", "function": "Acts as a transcriptional coactivator. Increases ligand-dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation (PubMed:14609956, PubMed:26522984). Also functions as a transcriptional coactivator in the TGF-beta signaling pathway by increasing the activity of the SMAD3/SMAD4 transcriptional complex (PubMed:16777850). Involved in transcriptional activation of a subset of NOTCH1 target genes including MYC. Involved in thymocyte and T cell development (By similarity). Involved in the regulation of postmitotic positioning of pyramidal neurons in the developing cerebral cortex (PubMed:30639322)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Association of LPP and ZMIZ1 Gene Polymorphism with Celiac Disease in Subjects from Punjab, Pakistan. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of exogenous hZimp10 enhances the transcriptional activity of p53 and knockdown of endogenous hZimp10 reduces the transcriptional activity of p53., [RefSeq, PubMed]; First line of evidence demonstrates a physiological role for endogenous Zimp10 in regulating Smad3/4-mediated transcription., [RefSeq, PubMed]; Fusion of ZMIZ1 to ABL1 is associated with a B-cell acute lymphoblastic leukemia with a t(9;10)(q34;q22.3) translocation, [RefSeq, PubMed]; Knockdown of circZMIZ1 enhances the anti-tumor activity of CD8[+] T cells to alleviate hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Provides evidence to demonstrate a crucial role for Zimp10 in vasculogenesis, [RefSeq, PubMed]; Targeting the ZMIZ1-Notch1 signaling axis for the treatment of tongue squamous cell carcinoma. Erratum:[Sci Rep. 2024 Jul 18;14(1):16609. doi: 10.1038/s41598-024-67609-2. PMID: 39025882] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]., [RefSeq]; Zmiz1 is a novel regulator of lymphatic endothelial cell gene expression and function. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "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": "Q5JSH9;Q7Z7E6", "ec_number_list": "", "go_molecular_function": "GO:0061665 SUMO ligase activity;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0046332 SMAD binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0016925 protein sumoylation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007179 transforming growth factor beta receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q9ULJ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NN14-1", "uniprot_id": "ZN729_HUMAN", "mass": 145022.0, "length": 1252, "protein_name": "Zinc finger protein 729", "gene_name": "ZNF729", "organism": "Human", "refseq_name": "zinc finger protein 729", "refseq_ac": "NP_001229609", "gene_names_uniprotkb": "ZNF729", "gene_names_refseq": "ZNF729", "protein_names_uniprotkb": "Zinc finger protein 729", "protein_names_refseq": "zinc finger protein 729", "tax_id": 9606, "disease": "", "pathway": " (hsa:100287226); (R-HSA-212436)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26992070;29242379;29557506;31844290;32387766;35494241;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": 1, "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": "M0QY45", "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", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "A6NN14-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0A0MS00-1", "uniprot_id": "LV332_HUMAN", "mass": 12355.0, "length": 114, "protein_name": "Probable non-functional immunoglobulin lambda variable 3-32", "gene_name": "IGLV3-32", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGLV3-32", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional immunoglobulin lambda variable 3-32", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "11340299;17576170;20176268;22158414;24600447;29557506;9619395", "class_list": "immunoglobin", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of immunoglobulin light chains (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive immunoglobulin chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 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": 156, "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": 0.8, "record_id": "A0A0A0MS00-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0J9YWD0-1", "uniprot_id": "A0A0J9YWD0_HUMAN", "mass": 1352.0, "length": 10, "protein_name": "Immunoglobulin heavy diversity 3-3", "gene_name": "IGHD3-3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGHD3-3", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy diversity 3-3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A0J9YWD0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0K0K1A3-1", "uniprot_id": "TVBJ1_HUMAN", "mass": 12970.0, "length": 114, "protein_name": "T cell receptor beta variable 10-1", "gene_name": "TRBV10-1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV10-1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 10-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0A075B6L8;A0A0A6YYU3;A0A543", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0K0K1A3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0K0K1C0-1", "uniprot_id": "TVBK1_HUMAN", "mass": 12817.0, "length": 115, "protein_name": "T cell receptor beta variable 11-1", "gene_name": "TRBV11-1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV11-1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 11-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0A075B6L9;A0A0A6YYP4;A0A582", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0K0K1C0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GTI8-1", "uniprot_id": "TM272_HUMAN", "mass": 21340.0, "length": 187, "protein_name": "Transmembrane protein 272", "gene_name": "TMEM272", "organism": "Human", "refseq_name": "transmembrane protein 272 isoform 1", "refseq_ac": "NP_001337932", "gene_names_uniprotkb": "TMEM272", "gene_names_refseq": "LINC00282; NCRNA00282; TMEM272", "protein_names_uniprotkb": "Transmembrane protein 272", "protein_names_refseq": "long intergenic non-protein coding RNA 282; transmembrane protein 272 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:283521)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;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": "A0A1B0GW01", "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": "A0A1B0GTI8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5STR5-1", "uniprot_id": "SIM40_HUMAN", "mass": 8950.0, "length": 79, "protein_name": "Small integral membrane protein 40", "gene_name": "SMIM40", "organism": "Human", "refseq_name": "small integral membrane protein 40", "refseq_ac": "NP_001356132", "gene_names_uniprotkb": "SMIM40", "gene_names_refseq": "SMIM40", "protein_names_uniprotkb": "Small integral membrane protein 40", "protein_names_refseq": "small integral membrane protein 40", "tax_id": 9606, "disease": "", "pathway": " (hsa:113523636)", "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:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5STR5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GTB2-1", "uniprot_id": "TUNAR_HUMAN", "mass": 5360.0, "length": 48, "protein_name": "Protein TUNAR", "gene_name": "TUNAR", "organism": "Human", "refseq_name": "protein TUNAR isoform 1", "refseq_ac": "NP_001403061", "gene_names_uniprotkb": "TUNAR", "gene_names_refseq": "BNLN; HI-LNC78; LINC00617; TUNAR; TUNA; pTUNAR", "protein_names_uniprotkb": "Protein TUNAR; BNLN; Beta cell and neural cell-regulin; TCL1 upstream neural differentiation-associated RNA; pTUNAR", "protein_names_refseq": "Human Islet Long Non Coding RNA 78; TCL1 upstream neural differentiation-associated RNA; TUNAR lncRNA; Tcl1 upstream neuron-associated lincRNA; beta cell- and neural cell-regulin; long intergenic non-protein coding RNA 617; protein TUNAR isoform 1; protein TUNAR", "tax_id": 9606, "disease": "", "pathway": " (hsa:100507043)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;26207516;33682459;34513312", "class_list": "", "function": "In neurons, plays a role in the regulation of intracellular Ca(2+), possibly by acting as an activator of ATP2A2/SERCA2, thus increasing the efficiency with which Ca(2+) is removed from the cytoplasm (By similarity). Inhibits differentiation of embryonic stem cells into neurons and inhibits neurite outgrowth, likely as a result of its role in intracellular Ca(2+) regulation (By similarity). In pancreatic beta cells, lowers Ca(2+) levels in the endoplasmic reticulum and enhances glucose-stimulated insulin secretion (PubMed:34513312)., [UniProtKB, PubMed, UniProtKB]; The long noncoding RNA TUNAR modulates Wnt signaling and regulates human beta-cell proliferation., [RefSeq, PubMed]; This study found the human ortholog of TUNA, linc00617, was upregulated in breast cancer samples., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0A1B0GUV0", "ec_number_list": "", "go_molecular_function": "GO:0051117 ATPase binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0005634 nucleus;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0045665 negative regulation of neuron differentiation;GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0048812 neuron projection morphogenesis;GO:0051480 regulation of cytosolic calcium ion concentration;GO:0032469 endoplasmic reticulum calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A0A1B0GTB2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0A0MTA4-1", "uniprot_id": "TJB25_HUMAN", "mass": 1722.0, "length": 15, "protein_name": "T cell receptor beta joining 2-5", "gene_name": "TRBJ2-5", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBJ2-5", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta joining 2-5", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11237011;15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "J 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:0042101 T cell receptor complex", "go_biological_process": "GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A0A0MTA4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0B4J1T7-1", "uniprot_id": "A0A0B4J1T7_HUMAN", "mass": 13524.0, "length": 125, "protein_name": "Lymphocyte antigen 6 family member G6E (pseudogene)", "gene_name": "LY6G6E", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LY6G6E", "gene_names_refseq": "", "protein_names_uniprotkb": "Lymphocyte antigen 6 family member G6E (pseudogene)", "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:0030549 acetylcholine receptor activator activity;GO:0033130 acetylcholine receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse", "go_biological_process": "GO:0095500 acetylcholine receptor signaling pathway;GO:0002029 desensitization of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A0B4J1T7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0C4DH36-1", "uniprot_id": "HV338_HUMAN", "mass": 12759.0, "length": 116, "protein_name": "Probable non-functional immunoglobulin heavy variable 3-38", "gene_name": "IGHV3-38", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGHV3-38", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional immunoglobulin heavy variable 3-38", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "11340299;17576170;20176268;22158414;24600447;29557506;30429286;9619395", "class_list": "immunoglobin", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of immunoglobulin heavy chains (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive immunoglobulin chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 197, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A0A0C4DH36-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0J9YXA8-1", "uniprot_id": "TJB11_HUMAN", "mass": 1640.0, "length": 15, "protein_name": "T cell receptor beta joining 1-1", "gene_name": "TRBJ1-1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBJ1-1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta joining 1-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "J region of the variable domain of T cell receptor (TR) 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:0042101 T cell receptor complex", "go_biological_process": "GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0J9YXA8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0K0K1E9-1", "uniprot_id": "TVB77_HUMAN", "mass": 12787.0, "length": 115, "protein_name": "T cell receptor beta variable 7-7", "gene_name": "TRBV7-7", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV7-7", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 7-7", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) 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": "A0A075B6M6;A0A0A6YYM7;A0A5A0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0K0K1E9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GXF2-1", "uniprot_id": "TVB72_HUMAN", "mass": 12480.0, "length": 115, "protein_name": "T cell receptor beta variable 7-2", "gene_name": "TRBV7-2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV7-2", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 7-2", "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. 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": 0.6, "record_id": "A0A1B0GXF2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1W2PR95-1", "uniprot_id": "IGB1C_HUMAN", "mass": 39174.0, "length": 340, "protein_name": "Immunoglobulin-binding protein 1 family member C", "gene_name": "IGBP1C", "organism": "Human", "refseq_name": "immunoglobulin-binding protein 1 family member C", "refseq_ac": "NP_001382895", "gene_names_uniprotkb": "IGBP1C; IGBP1P2", "gene_names_refseq": "IGBP1C; IGBP1P2", "protein_names_uniprotkb": "Immunoglobulin-binding protein 1 family member C", "protein_names_refseq": "hCG1642624; immunoglobulin (CD79A) binding protein 1 family member C; immunoglobulin (CD79A) binding protein 1 pseudogene 2; immunoglobulin-binding protein 1 family member C", "tax_id": 9606, "disease": "", "pathway": " (hsa:645545)", "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": 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:0051721 protein phosphatase 2A binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035303 regulation of dephosphorylation;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1W2PR95-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A578-1", "uniprot_id": "TVB51_HUMAN", "mass": 12600.0, "length": 114, "protein_name": "T cell receptor beta variable 5-1", "gene_name": "TRBV5-1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV5-1; TCRBV5S1A1T", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 5-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 9, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;26758806;34087483;35580925;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": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO: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": 1.0, "record_id": "A0A578-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0U1RRI6-1", "uniprot_id": "CENL3_HUMAN", "mass": 29865.0, "length": 272, "protein_name": "Centromere protein V-like protein 3", "gene_name": "CENPVL3", "organism": "Human", "refseq_name": "centromere protein V-like protein 3", "refseq_ac": "NP_001342205", "gene_names_uniprotkb": "CENPVL3; CENPVP3", "gene_names_refseq": "CENPVL3; CENPVP3", "protein_names_uniprotkb": "Centromere protein V-like protein 3; Centromere protein V pseudogene 3", "protein_names_refseq": "centromere protein V-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:347549)", "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:0046872 metal ion binding;GO:0016846 carbon-sulfur lyase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A0U1RRI6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53S08-1", "uniprot_id": "RAB6D_HUMAN", "mass": 28242.0, "length": 254, "protein_name": "Ras-related protein Rab-6D", "gene_name": "RAB6D", "organism": "Human", "refseq_name": "ras-related protein Rab-6D", "refseq_ac": "NP_001071105", "gene_names_uniprotkb": "RAB6D; WTH3DI", "gene_names_refseq": "RAB6CL; RAB6D; WTH3DI", "protein_names_uniprotkb": "Ras-related protein Rab-6D; 3.6.5.2; Rab6-like protein WTH3DI", "protein_names_refseq": "RAB6C-like; rab6-like protein WTH3DI; ras-related protein Rab-6D", "tax_id": 9606, "disease": "retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:150786)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "16923123;20068231;27452731", "class_list": "", "function": "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., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "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:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0012505 endomembrane system;GO:0036064 ciliary basal body", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0042147 retrograde transport, endosome to Golgi;GO:1903292 protein localization to Golgi membrane;GO:0006891 intra-Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q53S08-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1W2PPK0-1", "uniprot_id": "CPHL2_HUMAN", "mass": 45221.0, "length": 400, "protein_name": "Cytoplasmic polyadenylated homeobox-like protein 2", "gene_name": "CPHXL2", "organism": "Human", "refseq_name": "cytoplasmic polyadenylated homeobox-like protein 2", "refseq_ac": "NP_001382791", "gene_names_uniprotkb": "CPHXL2", "gene_names_refseq": "CPHXL2", "protein_names_uniprotkb": "Cytoplasmic polyadenylated homeobox-like protein 2", "protein_names_refseq": "cytoplasmic polyadenylated homeobox-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:112268164)", "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: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:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1W2PPK0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A286YF77-1", "uniprot_id": "SCGR6_HUMAN", "mass": 9896.0, "length": 105, "protein_name": "Small cysteine and glycine repeat-containing protein 6", "gene_name": "SCYGR6", "organism": "Human", "refseq_name": "small cysteine and glycine repeat-containing protein 6", "refseq_ac": "NP_001382336", "gene_names_uniprotkb": "SCYGR6; KRTAP28-6", "gene_names_refseq": "KRTAP28-6; SCYGR6", "protein_names_uniprotkb": "Small cysteine and glycine repeat-containing protein 6; Keratin-associated protein 28-6", "protein_names_refseq": "keratin associated protein 28-6; small cysteine and glycine repeat-containing protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:112441431)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "18721477", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A286YF77-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0N4X2-1", "uniprot_id": "A0N4X2_HUMAN", "mass": 2178.0, "length": 20, "protein_name": "T cell receptor alpha joining 40", "gene_name": "TRAJ40", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRAJ40", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 40", "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": "A0N4X2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1W2PPM1-1", "uniprot_id": "CPHXL_HUMAN", "mass": 45714.0, "length": 405, "protein_name": "Cytoplasmic polyadenylated homeobox-like protein", "gene_name": "CPHXL", "organism": "Human", "refseq_name": "cytoplasmic polyadenylated homeobox-like protein", "refseq_ac": "NP_001342542", "gene_names_uniprotkb": "CPHXL; CPHX1", "gene_names_refseq": "CPHXL1; CPHXL", "protein_names_uniprotkb": "Cytoplasmic polyadenylated homeobox-like protein; Cytoplasmic polyadenylated homeobox 1", "protein_names_refseq": "cytoplasmic polyadenylated homeobox 1; cytoplasmic polyadenylated homeobox-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:105371346)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "27412763", "class_list": "", "function": "Transcription factor that acts as activator., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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: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": "A0A1W2PPM1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A075B6Z3-1", "uniprot_id": "A0A075B6Z3_HUMAN", "mass": 2129.0, "length": 21, "protein_name": "T cell receptor alpha joining 6", "gene_name": "TRAJ6", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRAJ6", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 6", "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": "A0A075B6Z3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A087WYE8-1", "uniprot_id": "A0A087WYE8_HUMAN", "mass": 13023.0, "length": 117, "protein_name": "Immunoglobulin heavy variable 1/OR21-1 (non-functional)", "gene_name": "IGHV1OR21-1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGHV1OR21-1", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 1/OR21-1 (non-functional)", "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": 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:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A087WYE8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GVH6-1", "uniprot_id": "CM042_HUMAN", "mass": 37385.0, "length": 325, "protein_name": "Uncharacterized protein C13orf42", "gene_name": "C13orf42", "organism": "Human", "refseq_name": "uncharacterized protein C13orf42", "refseq_ac": "NP_001338518", "gene_names_uniprotkb": "C13orf42", "gene_names_refseq": "C13orf42; LINC00371; LINC00372", "protein_names_uniprotkb": "Uncharacterized protein C13orf42", "protein_names_refseq": "long intergenic non-protein coding RNA 371; long intergenic non-protein coding RNA 372; uncharacterized protein C13orf42", "tax_id": 9606, "disease": "", "pathway": " (hsa:647166)", "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": "A0A1B0GVH6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1W2PS18-1", "uniprot_id": "PMIS2_HUMAN", "mass": 15819.0, "length": 150, "protein_name": "Transmembrane protein PMIS2", "gene_name": "PMIS2", "organism": "Human", "refseq_name": "transmembrane protein PMIS2 isoform 2", "refseq_ac": "NP_001382341", "gene_names_uniprotkb": "PMIS2", "gene_names_refseq": "IFITMD9; PMIS2", "protein_names_uniprotkb": "Transmembrane protein PMIS2", "protein_names_refseq": "transmembrane protein PMIS2 isoform 2; transmembrane protein PMIS2", "tax_id": 9606, "disease": "", "pathway": " (hsa:111216276)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;35051231", "class_list": "", "function": "May play a role in spermatozoa mobility., [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": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0A1W2PS18-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0B4J1U4-1", "uniprot_id": "TRGV5_HUMAN", "mass": 13601.0, "length": 118, "protein_name": "T cell receptor gamma variable 5", "gene_name": "TRGV5", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRGV5; TCRGV5", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor gamma variable 5", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "23348415;24387714;24600447;25674089;28920588;38253038", "class_list": "", "function": "V 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": 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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex", "go_biological_process": "GO:0045087 innate immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A0A0B4J1U4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0B4J279-1", "uniprot_id": "TVA21_HUMAN", "mass": 12289.0, "length": 112, "protein_name": "T cell receptor alpha variable 21", "gene_name": "TRAV21", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRAV21", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha variable 21", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "15040585;15837811;20452950;23524462;24600447;25493333;26758806;26917722", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex", "go_biological_process": "GO:0009617 response to bacterium;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A0A0B4J279-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0B4J2E0-1", "uniprot_id": "TVBL4_HUMAN", "mass": 12982.0, "length": 115, "protein_name": "T cell receptor beta variable 12-4", "gene_name": "TRBV12-4", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV12-4", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 12-4", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;27183386;27183389;38253038", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "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": 1.1, "record_id": "A0A0B4J2E0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0A0MS01-1", "uniprot_id": "TVG10_HUMAN", "mass": 13482.0, "length": 119, "protein_name": "Probable non-functional T cell receptor gamma variable 10", "gene_name": "TRGV10", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRGV10", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional T cell receptor gamma variable 10", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "23348415;24387714;24600447;25674089;28920588;9619395", "class_list": "", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of T cell receptor (TR) gamma chain (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive T cell receptor (TR) chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 0.7, "record_id": "A0A0A0MS01-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GX68-1", "uniprot_id": "TVB2_HUMAN", "mass": 13403.0, "length": 115, "protein_name": "T cell receptor beta variable 2", "gene_name": "TRBV2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV2", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 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. 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": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response;GO:0002376 immune system process", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A1B0GX68-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GX78-1", "uniprot_id": "TVBL5_HUMAN", "mass": 12997.0, "length": 115, "protein_name": "T cell receptor beta variable 12-5", "gene_name": "TRBV12-5", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV12-5", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 12-5", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) 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": 0.6, "record_id": "A0A1B0GX78-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1W2PR19-1", "uniprot_id": "GSTT4_HUMAN", "mass": 27942.0, "length": 241, "protein_name": "Glutathione S-transferase theta-4", "gene_name": "GSTT4", "organism": "Human", "refseq_name": "glutathione S-transferase theta-4", "refseq_ac": "NP_001345593", "gene_names_uniprotkb": "GSTT4; GSTTP1", "gene_names_refseq": "GSTT4; GSTTP1; HS322B1A", "protein_names_uniprotkb": "Glutathione S-transferase theta-4; 2.5.1.18; GST class-theta-4; Glutathione S-transferase theta pseudogene 1", "protein_names_refseq": "GST class-theta-4; glutathione S-transferase theta pseudogene 1; glutathione S-transferase theta-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:25774)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;18477386;32488085", "class_list": "", "function": "Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles., [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": "2.5.1.18;5.2.1.2;5.3.99.2;1.11.1.-;5.3.3.-;1.20.4.2;1.8.5.1;4.4.1.20", "go_molecular_function": "GO:0004364 glutathione transferase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A0A1W2PR19-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A075B711-1", "uniprot_id": "A0A075B711_HUMAN", "mass": 2043.0, "length": 20, "protein_name": "T cell receptor alpha joining 29", "gene_name": "TRAJ29", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRAJ29", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 29", "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": "A0A075B711-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0A0MT82-1", "uniprot_id": "A0A0A0MT82_HUMAN", "mass": 4467.0, "length": 47, "protein_name": "Immunoglobulin lambda joining 2", "gene_name": "IGLJ2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGLJ2", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda joining 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "11237011;18477386;33936100", "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": 0.4, "record_id": "A0A0A0MT82-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0C4DH26-1", "uniprot_id": "KVD41_HUMAN", "mass": 12570.0, "length": 115, "protein_name": "Probable non-functional immunoglobulin kappa variable 6D-41", "gene_name": "IGKV6D-41", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGKV6D-41", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional immunoglobulin kappa variable 6D-41", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11340299;17576170;20176268;22158414;24600447;9619395", "class_list": "immunoglobin", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of immunoglobulin light chains (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive immunoglobulin chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 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": 211, "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": 0.7, "record_id": "A0A0C4DH26-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1W2PQ72-1", "uniprot_id": "MSD7_HUMAN", "mass": 39760.0, "length": 361, "protein_name": "Myb/SANT-like DNA-binding domain-containing protein 7", "gene_name": "MSANTD7", "organism": "Human", "refseq_name": "zinc finger and SCAN domain containing 29 isoform 1", "refseq_ac": "NP_001365714", "gene_names_uniprotkb": "MSANTD7", "gene_names_refseq": "MSANTD7", "protein_names_uniprotkb": "Myb/SANT-like DNA-binding domain-containing protein 7", "protein_names_refseq": "zinc finger and SCAN domain containing 29 isoform 1; zinc finger and SCAN domain containing 29", "tax_id": 9606, "disease": "", "pathway": " (hsa:100421372)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;31844290;32265295", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A0A1W2PQ72-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPH7-1", "uniprot_id": "TBA3C_HUMAN", "mass": 49960.0, "length": 450, "protein_name": "Tubulin alpha-3C chain", "gene_name": "TUBA3C", "organism": "Human", "refseq_name": "tubulin alpha-3C chain", "refseq_ac": "NP_005992", "gene_names_uniprotkb": "TUBA3C; TUBA2", "gene_names_refseq": "TUBA2; TUBA3C; bA408E5.3", "protein_names_uniprotkb": "Tubulin alpha-3C chain; 3.6.5.-; Alpha-tubulin 2; Alpha-tubulin 3C; Tubulin alpha-2 chain", "protein_names_refseq": "Alpha-tubulin 3D; Tubulin alpha-3D chain; alpha-tubulin 2; alpha-tubulin 3C/D; alpha-tubulin 3C; tubulin alpha-2 chain; tubulin alpha-3C chain; tubulin alpha-3C/D chain; tubulin, alpha 2", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); polymicrogyria (Disease Ontology:DOID:0080918); lissencephaly 3 (Disease Ontology:DOID:0112232); microlissencephaly (Disease Ontology:DOID:0112234)", "pathway": " (hsa:113457); (hsa:7278); (R-HSA-1445148); (R-HSA-190840); (R-HSA-190861); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3371497); (R-HSA-380320); (R-HSA-389957); (R-HSA-389960); (R-HSA-389977); (R-HSA-437239); (R-HSA-5610787); (R-HSA-5620920); (R-HSA-5620924); (R-HSA-5626467); (R-HSA-5663220); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811436); (R-HSA-68877); (R-HSA-8852276); (R-HSA-8955332); (R-HSA-9609690); (R-HSA-9609736); (R-HSA-9619483); (R-HSA-9646399); (R-HSA-9648025); (R-HSA-9668328); (R-HSA-983189); (R-HSA-9833482)", "pathway_count": 33, "publication_count": 791, "publication_id_list": "10036229;10052452;10064083;10069812;10072072;10082513;10089880;10191254;10318838;10348343;10359595;10400669;10411507;10445031;10473551;10480952;10491388;10540230;10559959;10559986;10562278;10593899;10600384;10608864;10620360;10626894;10631941;10631952;10639150;10648614;10678165;10679020;10747093;10747884;10748235;10761932;10804209;10809954;10818153;10831612;10848580;10866685;10903204;10921873;10958683;10966113;11035033;11080672;11081627;11096080;11134010;11152499;11156368;11172815;11238103;11238927;11278865;11285137;11285270;11306556;11313968;11337501;11350938;11371342;11375483;11438540;11461920;11483508;11493604;11500375;11509732;11529500;11589254;11684289;11689559;11701661;11703931;11726511;11739780;11748249;11751894;11781817;11782313;11790530;11813165;11853874;11909525;11939789;11948177;11956313;11985496;12024216;12047556;12070132;12078484;12082080;12110184;12149451;12192414;12194817;12198549;12231563;12368902;12388752;12397061;12401177;12429848;12432908;12435627;12447383;12577064;12634853;12679384;12732141;12742663;12748383;12781197;12795688;12805219;12852857;12857923;12882984;12925777;12942088;13486053;1373135;1406973;14504276;14585331;14603322;14654841;14675537;14730319;14731593;14742712;1493716;15006353;15029241;15037235;15085137;15087129;15159550;1520276;15229216;15231740;15269286;15272311;15299030;15326200;15339662;15381148;15483056;15489852;15507212;15523559;15536180;15591024;15591061;15616190;15632110;15664193;15723797;15728195;15737063;15737233;15749704;15752359;15813748;15864301;15866170;15878873;15890843;15907845;15911768;15914536;15919790;15930098;15944396;15955805;15971998;16030262;16049494;16061793;1607388;16136078;16140760;16179258;16179259;16181339;16207721;16229832;16242130;16254602;16262723;16292343;1631136;16311594;16314391;16330023;16339192;16373505;16396903;16403413;16431927;16435301;16439214;16492809;16493421;16541025;16571679;16600570;16618111;16622419;16622420;16633337;16682347;16707575;16717090;16723730;16775004;16782012;1680566;16824007;16880201;16890222;16901895;16912714;16926190;16940185;16943183;1695551;16982605;17016520;17027958;17030981;17079286;17084703;17112726;17113138;17113389;17129783;17142755;17196341;17196820;17198702;17200122;17200141;17244649;17244817;17244818;17253781;17274799;17283181;17312020;17314406;17346968;17360540;17360631;17369524;1737036;17429068;17442700;17451557;17488286;17499049;17538014;17553904;17574030;17591767;17641202;17760859;17762891;17785525;17804755;17827179;17846173;17855605;17924679;17927562;17956946;17960137;17995453;17997397;18001770;18046453;18086915;18096616;18097444;18180281;18180368;18182008;18203656;18215318;18237546;18243712;18254226;18283113;18287528;18292509;18304522;18327258;18331838;18342609;18364699;18369462;18452278;18455992;18478542;1850831;18524849;18535146;18635947;18641641;18664496;18716626;18809720;18832070;18835251;18852297;18923426;18957415;1898986;19000668;19013499;19015319;19079338;19081074;19109418;19112494;19116309;19147001;19151722;19164740;19196978;19223390;19229320;19252894;19253336;19278660;19286674;19296914;19338388;19350017;19359544;19365551;19369418;19384852;19416861;19450523;19524510;19531357;19549984;1956401;19564404;1957170;19592253;19631211;19635840;19666503;19682613;19696148;19710021;19720863;19733181;19737400;19753100;19758564;19767740;19776033;19804757;19805633;19815554;19823565;19838063;19877275;19906846;19948480;19965387;19996169;20005805;20006655;20018861;20030946;20038533;20067783;20072699;20101212;20136777;20154143;20207148;20357002;20395957;20395968;20412786;20420828;20427317;20435895;20460306;20462495;20519500;20519502;20526327;20526328;20530210;20534429;20577264;20591975;20603001;20631154;20637885;20685959;20701589;20740604;20829795;20837646;20844016;20889716;20937701;20956384;2105456;21068373;21072047;21074048;21111234;21116285;21123651;21148482;21158691;21173190;21183720;21209331;2121367;21219331;21294215;21299499;21376746;21397845;2142332;21427764;21441454;21454505;21454690;21518807;21550981;21576392;21636578;21689688;21690215;21695114;21700222;21730051;21796517;21801010;21844168;21868368;21878504;2190094;21907143;21936775;21937648;21978664;21987589;21994559;22007132;22011577;22013193;22094269;22094460;22118932;22130221;22174689;22214662;22231273;22266222;22275430;22304919;22318716;22391300;22433123;2247437;22562055;22608513;22790947;22791416;22885700;22922713;22944912;22986343;22992454;23071318;23084476;23209152;23222643;23229543;23236459;23332756;23333653;23358242;23396477;23515720;23719536;23732991;23783758;23801653;23839779;2391366;23921553;23945166;23990561;24012426;24097348;24119662;24140113;24200693;24268707;24296415;24302888;24339784;24347309;2448316;24596149;24616010;24623135;24659800;24694367;24753571;24806965;24845016;24863049;24891604;24906155;24914801;24917297;24925320;24952464;25103237;25205765;2521221;2522352;25233431;25349261;25364732;25436559;25443296;25453831;25468068;25492864;2550440;25653431;25740311;25789526;25848059;25908662;25957412;26040712;26040713;26073023;26203193;26313416;26432638;26446704;26488609;26572645;26716879;26817845;26875866;26972003;27208315;27269119;27423063;27462449;27501258;27600516;27663436;27974558;28069888;28083797;28167698;28228285;28242692;28281686;28301631;28415052;28649982;28755533;28765891;28832583;28919297;29146868;29146869;29170442;29175459;29231267;29242379;29348664;29393594;29394925;29395325;29440070;29501855;29508533;30174290;30197098;30360396;30397120;30513301;30590034;30761409;30770398;30796923;31020640;31031002;31110491;31141847;3130248;3134048;31409757;31731497;31826031;31844290;32016915;32093270;32157095;32320027;32350084;32357974;32387766;32448030;32488085;32544881;32716602;32801355;32897882;32938616;32982970;32983136;33298915;33592498;33633747;33691108;33717175;33808629;33911136;33912179;33936100;33968037;34087483;34093574;34171305;34174402;34185709;34211107;34260926;34433824;34509645;34561969;34932366;34974812;35051231;35154160;35251023;35318648;35482892;35526384;35561310;35580925;35685460;35947956;36010968;36215666;36241641;36284347;36712380;37127961;6645495;6891012;7452228;7481823;7491766;7493978;7515177;7528108;7539720;7545299;7565688;7592972;7650016;7667286;7691276;7693978;7737357;7769006;7822426;7844144;7903669;7929562;7929580;8001155;8046351;8094051;8128252;8132710;8134367;8145819;8148318;8157723;8221884;8253837;8282004;8313912;8397411;8415765;8505331;8516294;8522608;8548803;8560673;8576172;8576179;8599929;8602245;8620540;8636227;8642258;8661426;8664345;8687433;8756646;8798539;8810342;8838651;8849454;8909537;8910500;8939989;8947036;8991093;9030515;9034343;9050864;9075930;9079663;9114004;9114011;9150144;9177194;9199170;9202021;9244307;9265649;9288971;9311912;9312039;9323141;9368021;9380700;9382863;9405360;9427680;9442054;9464360;9464361;9465305;9490716;9497313;9521856;9528799;9539769;9545226;9585416;9585417;9606180;9649308;9649503;9651214;9667968;9671725;9671731;9687506;9694656;9721721;9733780;9737981;9751720;9819388;9844631;9852153;9864362;9892021;9920933;9990005", "class_list": "", "function": "Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene is an alpha tubulin gene that encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; TUBA3C (and TUBA4A) are differentially expressed in individuals with poor sperm motility., [RefSeq, PubMed]; Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin., [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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": "A6NJQ0;Q13748;Q5W099;Q6PEY3;Q96F18", "ec_number_list": "3.6.5.-;3.6.5.2;6.3.2.-;3.6.5.3;3.6.5.5;2.7.11.21;2.7.11.1;2.3.1.-;5.6.1.3;3.6.1.5;2.7.11.22;2.7.11.23;3.6.4.10;5.6.1.6;2.7.11.11;3.6.1.-;2.7.10.2;3.1.3.16;2.7.11.26;2.3.2.-;2.7.11.31;3.6.4.-;3.6.5.4;5.2.1.8;2.4.1.41;3.4.22.49;5.3.99.3;3.6.4.12;2.3.1.108;3.4.17.-;3.4.17.24;3.4.17.17;3.6.-.-;6.3.2.25;2.7.11.38;2.7.11.34;3.1.2.-;3.5.1.-;3.5.1.124;3.6.1.15;6.-.-.-;5.6.1.1;3.6.1.6;3.6.1.42;3.1.11.-", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0016787 hydrolase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005929 cilium;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 79.4, "record_id": "P0DPH7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPI4-1", "uniprot_id": "TDB01_HUMAN", "mass": 290.0, "length": 4, "protein_name": "T cell receptor beta diversity 1", "gene_name": "TRBD1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBD1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta diversity 1", "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": "D 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:0042101 T cell receptor complex", "go_biological_process": "GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P0DPI4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPF6-1", "uniprot_id": "CB27B_HUMAN", "mass": 22074.0, "length": 209, "protein_name": "Putative uncharacterized protein CDRT15P3", "gene_name": "CDRT15P3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "CDRT15P3; C2orf27B", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein CDRT15P3", "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": "O43575;Q2M1X0;Q52M10;Q580R0;Q86XG2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DPF6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPK2-1", "uniprot_id": "H3Y1_HUMAN", "mass": 15423.0, "length": 136, "protein_name": "Histone H3.Y", "gene_name": "H3Y1", "organism": "Human", "refseq_name": "histone H3.Y", "refseq_ac": "NP_001342187", "gene_names_uniprotkb": "H3Y1", "gene_names_refseq": "H3.Y.1; H3.Y; H3Y1", "protein_names_uniprotkb": "Histone H3.Y; Histone H3.Y1", "protein_names_refseq": "H3 histone, family 3B (H3.3B) pseudogene; histone H3.Y1; histone H3.Y; histone cluster 2, H3c pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:391769)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "20819935;27016736;28118111;28334823;31722199;34171305;34932366;35051231;36215666;36284347;37938771", "class_list": "", "function": "DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression., [RefSeq, PubMed]; H3.Y discriminates between HIRA and DAXX chaperone complexes and reveals unexpected insights into human DAXX-H3.3-H4 binding and deposition requirements., [RefSeq, PubMed]; Ken together, H3.Y-containing nucleosomes around transcription start sites may form relaxed chromatin that allows transcription factor access, to regulate the transcription status of specific genes. Erratum:[Nucleic Acids Res. 2017 Apr 7;45(6):3612. doi: 10.1093/nar/gkw1219. PMID: 27913734], [RefSeq, PubMed]; Primate-specific variant histone H3, which constitutes a core component of nucleosomes (PubMed:20819935, PubMed:27016736). Histone H3.Y-containing nucleosomes accumulate around transcription start sites and have flexible DNA ends, suggesting that they form relaxed chromatin that allows transcription factor access (PubMed:27016736). Histone H1 binds less efficiently to histone H3.Y-containing nucleosomes (PubMed:27016736). 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 (Probable)., [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": 7, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0031492 nucleosomal DNA binding;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000776 kinetochore;GO:0000786 nucleosome", "go_biological_process": "GO:0051382 kinetochore assembly;GO:0007080 mitotic metaphase chromosome alignment;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P0DPK2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPD5-1", "uniprot_id": "ZN723_HUMAN", "mass": 59152.0, "length": 513, "protein_name": "Zinc finger protein 723", "gene_name": "ZNF723", "organism": "Human", "refseq_name": "zinc finger protein 723", "refseq_ac": "NP_001336655", "gene_names_uniprotkb": "ZNF723", "gene_names_refseq": "ZNF723P; ZNF723", "protein_names_uniprotkb": "Zinc finger protein 723", "protein_names_refseq": "zinc finger protein 723", "tax_id": 9606, "disease": "", "pathway": " (hsa:646864)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "29557506", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO: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": 0.2, "record_id": "P0DPD5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPK3-1", "uniprot_id": "NT2NB_HUMAN", "mass": 30097.0, "length": 275, "protein_name": "Notch homolog 2 N-terminal-like protein B", "gene_name": "NOTCH2NLB", "organism": "Human", "refseq_name": "notch homolog 2 N-terminal-like protein B isoform 1 precursor", "refseq_ac": "NP_001350936", "gene_names_uniprotkb": "NOTCH2NLB", "gene_names_refseq": "NOTCH2NLB", "protein_names_uniprotkb": "Notch homolog 2 N-terminal-like protein B", "protein_names_refseq": "notch homolog 2 N-terminal-like protein B isoform 1 precursor; notch homolog 2 N-terminal-like protein B", "tax_id": 9606, "disease": "intestinal cancer (Disease Ontology:DOID:10155); neurodegenerative disease (Disease Ontology:DOID:1289); brain cancer (Disease Ontology:DOID:1319); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); adenocarcinoma (Disease Ontology:DOID:299); central nervous system cancer (Disease Ontology:DOID:3620); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:100996763); (R-HSA-2979096); (R-HSA-9911233)", "pathway_count": 3, "publication_count": 45, "publication_id_list": "10206645;10551863;10934472;10958687;11171333;11518718;11740940;11823422;11861489;12209127;12530964;14567914;14673143;15569487;15760269;15824097;15829515;16093323;16773578;17003037;18043734;18077452;1840698;18418349;18469519;20156974;21632553;22658935;22658936;24842903;29561261;29856954;29856955;3153318;32330268;33298915;33912179;36284347;803282;9207787;9207788;9384573;9604939;9620803;9651681", "class_list": "", "function": "Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels., [RefSeq, PubMed]; Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29561261, PubMed:29856954, PubMed:29856955). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954, PubMed:29856955). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954, PubMed:29856955). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (PubMed:29856955)., [UniProtKB, PubMed, PubMed, PubMed]; NOTCH2NL can expand human cortical progenitors and increase their neuronal output at the clonal level through cell-autonomous activation of the Notch pathway., [RefSeq, PubMed]; The emergence of human-specific NOTCH2NL genes may have contributed to the rapid evolution of the larger human neocortex, accompanied by loss of genomic stability at the 1q21.1 locus and resulting recurrent neurodevelopmental disorders, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005112 Notch binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0007219 Notch signaling pathway;GO:0021987 cerebral cortex development;GO:0045747 positive regulation of Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "P0DPK3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DPK4-1", "uniprot_id": "NT2NC_HUMAN", "mass": 31544.0, "length": 293, "protein_name": "Notch homolog 2 N-terminal-like protein C", "gene_name": "NOTCH2NLC", "organism": "Human", "refseq_name": "notch homolog 2 N-terminal-like protein C isoform 1", "refseq_ac": "NP_001350941", "gene_names_uniprotkb": "NOTCH2NLC", "gene_names_refseq": "ETM6; NIID; NOTCH2NLC; OPDM3", "protein_names_uniprotkb": "Notch homolog 2 N-terminal-like protein C", "protein_names_refseq": "notch homolog 2 N-terminal-like protein C isoform 1; notch homolog 2 N-terminal-like protein C", "tax_id": 9606, "disease": "neuronal intranuclear inclusion disease (Disease Ontology:DOID:0081294); essential tremor 6 (Disease Ontology:DOID:0081295); oculopharyngodistal myopathy 3 (Disease Ontology:DOID:0081299)", "pathway": " (hsa:100996717); (R-HSA-2979096); (R-HSA-9911233)", "pathway_count": 3, "publication_count": 53, "publication_id_list": "10206645;10551863;10934472;10958687;11171333;11518718;11740940;11823422;11861489;12209127;12530964;14567914;14673143;15569487;15760269;15824097;15829515;16093323;16773578;17003037;18043734;18077452;1840698;18418349;18469519;20156974;21632553;22658935;22658936;24842903;29561261;29856954;29856955;31178126;31332380;31332381;3153318;31819945;33239111;33693509;34846842;35289036;36948577;37237429;37975799;38667292;803282;9207787;9207788;9384573;9604939;9620803;9651681", "class_list": "", "function": "Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan., [RefSeq, PubMed]; Expansion of NOTCH2NLC GGC Repeat is associated with Neuronal Intranuclear Inclusion Disease-Related Disorders., [RefSeq, PubMed]; GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration., [RefSeq, PubMed]; GGC repeat expansions in NOTCH2NLC gene is associated with neuronal intranuclear inclusion disease., [RefSeq, PubMed]; Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort., [RefSeq, PubMed]; Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29561261, PubMed:29856954, PubMed:29856955). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy. Publication Status: Online-Only, [RefSeq, PubMed]; The emergence of human-specific NOTCH2NL genes may have contributed to the rapid evolution of the larger human neocortex, accompanied by loss of genomic stability at the 1q21.1 locus and resulting recurrent neurodevelopmental disorders, [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": 8, "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": "A0A494C1K9", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0007219 Notch signaling pathway;GO:0021987 cerebral cortex development;GO:0045747 positive regulation of Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "P0DPK4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A2R8YED5-1", "uniprot_id": "O5BS1_HUMAN", "mass": 34040.0, "length": 311, "protein_name": "Olfactory receptor 5BS1", "gene_name": "OR5BS1", "organism": "Human", "refseq_name": "olfactory receptor 5BS1", "refseq_ac": "NP_001382990", "gene_names_uniprotkb": "OR5BS1; OR5BS1P", "gene_names_refseq": "OR5BS1P; OR5BS1", "protein_names_uniprotkb": "Olfactory receptor 5BS1; Olfactory receptor family 5 subfamily BS member 1", "protein_names_refseq": "olfactory receptor 5BS1; olfactory receptor family 5 subfamily BS member 1 pseudogene; olfactory receptor like protein; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:390313)", "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": "Q8NH44", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A2R8YED5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A2R8Y619-1", "uniprot_id": "H2BK1_HUMAN", "mass": 13491.0, "length": 122, "protein_name": "Histone H2B type 2-K1", "gene_name": "H2BK1", "organism": "Human", "refseq_name": "histone H2B type 2-K1", "refseq_ac": "NP_001356054", "gene_names_uniprotkb": "H2BK1; H2BE1", "gene_names_refseq": "H2BE1; H2BK1", "protein_names_uniprotkb": "Histone H2B type 2-K1; Histone H2B type 2-E1", "protein_names_refseq": "H2B.E variant histone 1; histone H2B type 2-E1; histone H2B type 2-K1; novel histone H2B-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:114483833)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "31537640;31844290;32350084;32357974;32387766;32488085;34357683", "class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 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:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0000786 nucleosome", "go_biological_process": "GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "A0A2R8Y619-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A2R8Y7D0-1", "uniprot_id": "TINCR_HUMAN", "mass": 10124.0, "length": 87, "protein_name": "Ubiquitin domain-containing protein TINCR", "gene_name": "TINCR", "organism": "Human", "refseq_name": "TINCR ubiquitin domain containing isoform 1", "refseq_ac": "NP_001383337", "gene_names_uniprotkb": "TINCR; LINC00036; NCRNA00036; PLAC2", "gene_names_refseq": "LINC00036; NCRNA00036; PLAC2; TINCR; TUBL; onco-lncRNA-16", "protein_names_uniprotkb": "Ubiquitin domain-containing protein TINCR; Placenta-specific protein 2; Terminal differentiation-induced cornification regulator; pTINCR microprotein", "protein_names_refseq": "TINCR ubiquitin domain containing isoform 1; TINCR-encoded ubiquitin-like protein; long intergenic non-protein coding RNA 36; placenta-specific 2 (non-protein coding); terminal differentiation-induced ncRNA; tissue differentiation-inducing non-protein coding RNA", "tax_id": 9606, "disease": "", "pathway": " (hsa:257000)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "23201690;24019000;25728677;32012357;34351912;36369429;36385098;36725842;36899004;37442895;38554384", "class_list": "", "function": "A 3.7-kilobase lncRNA, terminal differentiation-induced ncRNA (TINCR), controls human epidermal differentiation by a post-transcriptional mechanism, [RefSeq, PubMed]; A ubiquitin-like protein encoded by the ''noncoding'' RNA TINCR promotes keratinocyte proliferation and wound healing. Publication Status: Online-Only, [RefSeq, PubMed]; Findings suggest that TINCR contributes to the oncogenic potential of GC and may constitute a potential therapeutic target in this disease., [RefSeq, PubMed]; LncRNA TINCR impairs the efficacy of immunotherapy against breast cancer by recruiting DNMT1 and downregulating MiR-199a-5p via the STAT1-TINCR-USP20-PD-L1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Long non-coding RNA TINCR suppresses growth and epithelial-mesenchymal transition by inhibiting Wnt/beta-catenin signaling pathway in human pancreatic cancer PANC-1 cells: Insights from in vitro and in vivo studies. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes epithelial differentiation by enhancing the sumoylation and activation of CDC42 (PubMed:36369429). Promotes keratinocyte proliferation (PubMed:32012357). This contributes to the maintenance of skin homeostasis by enhancing wound healing after skin injury (By similarity). Acts as a tumor suppressor in epithelial tumors (PubMed:36369429, PubMed:36899004)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; TINCR is not a non-coding RNA but encodes a protein component of cornified epidermal keratinocytes., [RefSeq, PubMed]; TINCR, together with Staufen1, seems to stabilize a subset of mRNAs required for epidermal differentiation., [RefSeq, PubMed]; The long noncoding RNA TINCR promotes self-renewal of human liver cancer stem cells through autophagy activation. Publication Status: Online-Only, [RefSeq, PubMed]; The potential roles of lncRNA TINCR in triple negative breast cancer. Review article, [RefSeq, PubMed]; This gene produces a spliced long non-coding RNA that binds RNAs. This transcript interacts with staufen-1 protein to regulate the stability of mRNAs for genes involved in the differentiation of epidermal tissue. Variation in this gene may be associated with cancer progression. [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": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A1B0GTR7;A0A1B0GVN0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0070161 anchoring junction", "go_biological_process": "GO:0090303 positive regulation of wound healing;GO:0010838 positive regulation of keratinocyte proliferation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "A0A2R8Y7D0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A2R8YFR7-1", "uniprot_id": "A0A2R8YFR7_HUMAN", "mass": 164058.0, "length": 1487, "protein_name": "DH domain-containing protein", "gene_name": "LOC107987545", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LOC107987545", "gene_names_refseq": "", "protein_names_uniprotkb": "DH domain-containing protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "30429286;31844290;32488085", "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": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0032956 regulation of actin cytoskeleton organization;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A0A2R8YFR7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A2R8Y2Y2-1", "uniprot_id": "CHO90_HUMAN", "mass": 20376.0, "length": 192, "protein_name": "Uncharacterized protein C8orf90", "gene_name": "C8orf90", "organism": "Human", "refseq_name": "uncharacterized protein C8orf90", "refseq_ac": "NP_001382889", "gene_names_uniprotkb": "C8orf90", "gene_names_refseq": "C8orf90", "protein_names_uniprotkb": "Uncharacterized protein C8orf90", "protein_names_refseq": "uncharacterized protein C8orf90", "tax_id": 9606, "disease": "", "pathway": " (hsa:122455339)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A2R8Y2Y2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A2R8Y556-1", "uniprot_id": "A0A2R8Y556_HUMAN", "mass": 3304.0, "length": 26, "protein_name": "Uncharacterized protein", "gene_name": "LOC128125817", "organism": "Human", "refseq_name": "uncharacterized LOC128125817", "refseq_ac": "NP_001401929", "gene_names_uniprotkb": "LOC128125817", "gene_names_refseq": "LOC128125817", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "uncharacterized LOC128125817", "tax_id": 9606, "disease": "", "pathway": " (hsa:128125817)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A2R8Y556-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P53990-1", "uniprot_id": "IST1_HUMAN", "mass": 39751.0, "length": 364, "protein_name": "IST1 homolog", "gene_name": "IST1", "organism": "Human", "refseq_name": "IST1 homolog isoform a", "refseq_ac": "NP_001257904", "gene_names_uniprotkb": "IST1; KIAA0174", "gene_names_refseq": "CHMP8; IST1; OLC1", "protein_names_uniprotkb": "IST1 homolog; CHMP8; Charged multivesicular body protein 8; Putative MAPK-activating protein PM28; hIST1", "protein_names_refseq": "IST1 homolog isoform a; IST1 homolog; IST1, ESCRT-III associated factor; IST1, endosomal sorting complex required for transport-III component; charged multivesicular body protein 8; increased sodium tolerance 1 homolog; overexpressed in lung cancer 1; putative MAPK-activating protein PM28", "tax_id": 9606, "disease": "", "pathway": " (hsa:9798); (R-HSA-6798695); (R-HSA-9668328)", "pathway_count": 3, "publication_count": 113, "publication_id_list": "11237011;11466336;12761501;15104674;15592455;19001599;19129479;19129480;20112406;20719964;22424782;22898188;23015756;23186163;23481700;23650620;23897888;24715725;25418920;25502872;25576301;25645385;25880248;26040712;26040713;26154972;26768311;26811146;26929215;26992070;27543614;27600516;27846572;27862975;27920218;28063628;28228285;28242692;28467828;28510447;28832583;28855257;28860189;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30192525;30315122;30410026;30513301;30524438;30626607;30779550;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34725712;34932366;35051231;35154160;35251023;35318648;35561310;35580925;35858336;36010968;36215666;36241641;36284347;37217939;37938771;38880167;7500030;8692836", "class_list": "", "function": "Cigarette smoking-related OLC1 overexpression associated with poor prognosis in bladder urothelial carcinoma., [RefSeq, PubMed]; ESCRT-III-like protein involved in cytokinesis, nuclear envelope reassembly and endosomal tubulation (PubMed:19129479, PubMed:26040712, PubMed:28242692). Is required for efficient abscission during cytokinesis (PubMed:19129479). Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells (PubMed:19129479, PubMed:19129480). During late anaphase, involved in nuclear envelope reassembly and mitotic spindle disassembly together with the ESCRT-III complex: IST1 acts by mediating the recruitment of SPAST to the nuclear membrane, leading to microtubule severing (PubMed:26040712). Recruited to the reforming nuclear envelope (NE) during anaphase by LEMD2 (PubMed:28242692). Regulates early endosomal tubulation together with the ESCRT-III complex by mediating the recruitment of SPAST (PubMed:23897888)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Friction-driven membrane scission by the human ESCRT-III proteins CHMP1B and IST1., [RefSeq, PubMed]; HIST1 is essential for cytokinesis in mammalian cells., [RefSeq, PubMed]; IST1 and CHMP1 act together to recruit and modulate specific VPS4 activities required during the final stages of cell division., [RefSeq, PubMed]; OLC1 (KIAA0174) is a candidate oncogene in lung cancer whose expression may be regulated by exposure to cigarette smoke., [RefSeq, PubMed]; This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 5, "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": "A8KAH5;J3QLU7;Q3SYM4;Q9BQ81;Q9BWN2", "ec_number_list": "", "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0045296 cadherin binding;GO:0044877 protein-containing complex binding;GO:0090541 MIT domain binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005635 nuclear envelope;GO:0005813 centrosome;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0036258 multivesicular body assembly;GO:1904903 ESCRT III complex disassembly;GO:0015031 protein transport;GO:0051301 cell division;GO:0045184 establishment of protein localization", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "P53990-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P50542-1", "uniprot_id": "PEX5_HUMAN", "mass": 70865.0, "length": 639, "protein_name": "Peroxisomal targeting signal 1 receptor", "gene_name": "PEX5", "organism": "Human", "refseq_name": "peroxisomal biogenesis factor 5 isoform b", "refseq_ac": "NP_000310", "gene_names_uniprotkb": "PEX5; PXR1", "gene_names_refseq": "PBD2A; PBD2B; PEX5; PTS1-BP; PTS1R; PXR1; RCDP5", "protein_names_uniprotkb": "Peroxisomal targeting signal 1 receptor; PTS1 receptor; PTS1-BP; PTS1R; Peroxin-5; Peroxisomal C-terminal targeting signal import receptor; Peroxisome receptor 1", "protein_names_refseq": "PTS1 receptor; peroxin-5; peroxisomal C-terminal targeting signal import receptor; peroxisomal biogenesis factor 5 isoform b; peroxisomal import receptor 5; peroxisomal targeting signal 1 (SKL type) receptor; peroxisomal targeting signal 1 receptor; peroxisomal targeting signal import receptor; peroxisomal targeting signal receptor 1; peroxisome receptor 1", "tax_id": 9606, "disease": "peroxisomal biogenesis disorder (Disease Ontology:DOID:0080377); peroxisome biogenesis disorder 2A (Disease Ontology:DOID:0080477); peroxisome biogenesis disorder 2B (Disease Ontology:DOID:0080622); rhizomelic chondrodysplasia punctata type 5 (Disease Ontology:DOID:0110854)", "pathway": " (hsa:5830); (R-HSA-9664873)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "10.1101/2023.09.13.557529;10462504;10562279;11101887;11237011;11336669;11438541;11546814;12456682;16314507;17157249;17428317;17580304;19197237;19208625;19250911;19398892;20966255;21976670;21980954;22371489;23186163;23481700;24118911;24235149;24275569;24366607;24397554;24662292;25418920;25440060;25538232;25576301;25880248;25892735;26154972;26220973;26344566;26375851;26992070;27050462;27068951;27597759;27862975;27920218;28218747;28228285;28724525;28765278;28832583;28904123;29242379;29371260;29393594;29437277;29493099;29508533;29557506;29769354;29786170;29789417;29884772;30315122;30410026;30429286;30700497;30779550;31131315;31154438;31356149;31530632;31844290;31848261;32157095;32161166;32357974;32488085;32502341;32938616;32983136;33141586;33298915;33389129;33392160;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34185709;34932366;35002522;35051231;35318648;35580925;36010968;36284347;38540734;7706321;7719337;7790377;9668159;9820813", "class_list": "", "function": "Does not mediate translocation of peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal., [UniProtKB, PubMed]; Identification and Validation of a PEX5-Dependent Signature for Prognostic Prediction in Glioma. Publication Status: Online-Only, [RefSeq, PubMed]; In addition to promoting peroxisomal translocation of proteins containing a PTS1 peroxisomal targeting signal, mediates peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal via its interaction with PEX7 (PubMed:11336669, PubMed:11546814, PubMed:25538232, PubMed:33389129, PubMed:9668159). Interaction with PEX7 only takes place when PEX7 is associated with cargo proteins containing a PTS2 peroxisomal targeting signal (PubMed:25538232). PEX7 along with PTS2-containing cargo proteins are then translocated through the PEX13-PEX14 docking complex together with PEX5 (PubMed:25538232)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Insights into the critical role of the PXR in preventing carcinogenesis and chemotherapeutic drug resistance. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Receptor that mediates peroxisomal import of proteins containing a C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) (PubMed:11101887, PubMed:11336669, PubMed:12456682, PubMed:16314507, PubMed:17157249, PubMed:17428317, PubMed:21976670, PubMed:26344566, PubMed:7706321, PubMed:7719337, PubMed:7790377). Binds to cargo proteins containing a PTS1 peroxisomal targeting signal in the cytosol, and translocates them into the peroxisome matrix by passing through the PEX13-PEX14 docking complex along with cargo proteins (PubMed:12456682, PubMed:17157249, PubMed:21976670, PubMed:26344566). PEX5 receptor is then retrotranslocated into the cytosol, leading to release of bound cargo in the peroxisome matrix, and reset for a subsequent peroxisome import cycle (PubMed:11336669, PubMed:24662292)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [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": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K891;B4DZ45;B7ZAD5;D3DUT8;Q15115;Q15266;Q96FN7", "ec_number_list": "", "go_molecular_function": "GO:0033328 peroxisome membrane targeting sequence binding;GO:0019899 enzyme binding;GO:0031267 small GTPase binding;GO:0005052 peroxisome matrix targeting signal-1 binding;GO:0000268 peroxisome targeting sequence binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005782 peroxisomal matrix;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0016561 protein import into peroxisome matrix, translocation;GO:0044721 protein import into peroxisome matrix, substrate release;GO:0051262 protein tetramerization;GO:0031333 negative regulation of protein-containing complex assembly;GO:0034614 cellular response to reactive oxygen species", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "P50542-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86TW2-1", "uniprot_id": "ADCK1_HUMAN", "mass": 60577.0, "length": 530, "protein_name": "AarF domain-containing protein kinase 1", "gene_name": "ADCK1", "organism": "Human", "refseq_name": "aarF domain-containing protein kinase 1 isoform b", "refseq_ac": "NP_001136017", "gene_names_uniprotkb": "ADCK1", "gene_names_refseq": "ADCK1; MCP2", "protein_names_uniprotkb": "AarF domain-containing protein kinase 1; 2.7.-.-", "protein_names_refseq": "aarF domain-containing protein kinase 1 isoform b; aarF domain-containing protein kinase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57143)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10.1101/2023.09.13.557529;11237011;20877624;23481700;24714562;24715725;25576301;25880248;26992070;27846572;28228285;28832583;28904123;29242379;29557506;29786170;30315122;30779550;31125351;31844290;31848261;32157095;32357974;32897882;32938616;33141586;33537174;33592498;33824271;34509645;35051231;35580925;36010968;36371387;37938771", "class_list": "", "function": "ADCK1 activates the beta-catenin/TCF signaling pathway to promote the growth and migration of colon cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; ADCK1 is a potential therapeutic target of osteosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; Appears to be essential for maintaining mitochondrial cristae formation and mitochondrial function by acting via YME1L1 in a kinase-independent manner to regulate essential mitochondrial structural proteins OPA1 and IMMT (PubMed:31125351). The action of this enzyme is not yet clear (Probable). It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr) (Probable)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 1, "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": "B3KUD5;Q6PD65;Q9UIE6", "ec_number_list": "", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0055088 lipid homeostasis;GO:0007005 mitochondrion organization;GO:1903852 positive regulation of cristae formation;GO:0010637 negative regulation of mitochondrial fusion", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q86TW2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30101-1", "uniprot_id": "PDIA3_HUMAN", "mass": 56782.0, "length": 505, "protein_name": "Protein disulfide-isomerase A3", "gene_name": "PDIA3", "organism": "Human", "refseq_name": "protein disulfide-isomerase A3 precursor", "refseq_ac": "NP_005304", "gene_names_uniprotkb": "PDIA3; ERP57; ERP60; GRP58", "gene_names_refseq": "ER60; ERp57; ERp60; ERp61; GRP57; GRP58; HEL-S-269; HEL-S-93n; HsT17083; P58; PDIA3; PI-PLC", "protein_names_uniprotkb": "Protein disulfide-isomerase A3; 5.3.4.1; 58 kDa glucose-regulated protein; 58 kDa microsomal protein; Disulfide isomerase ER-60; ER protein 57; ER protein 60; ERp57; ERp60; Endoplasmic reticulum resident protein 57; Endoplasmic reticulum resident protein 60; p58", "protein_names_refseq": "58 kDa glucose-regulated protein; 58 kDa microsomal protein; ER protein 57; ER protein 60; disulfide isomerase ER-60; endoplasmic reticulum P58; endoplasmic reticulum resident protein 57; endoplasmic reticulum resident protein 60; epididymis secretory protein Li 269; epididymis secretory sperm binding protein Li 93n; glucose regulated protein, 58kDa; phospholipase C-alpha; protein disulfide isomerase-associated 3; protein disulfide-isomerase A3 precursor; protein disulfide-isomerase A3", "tax_id": 9606, "disease": "asphyxia neonatorum (Disease Ontology:DOID:11088); autoimmune hepatitis (Disease Ontology:DOID:2048); post-traumatic stress disorder (Disease Ontology:DOID:2055); liver cirrhosis (Disease Ontology:DOID:5082); pulmonary hypertension (Disease Ontology:DOID:6432); irritable bowel syndrome (Disease Ontology:DOID:9778)", "pathway": " (hsa:2923); (R-HSA-1236974); (R-HSA-901042); (R-HSA-983170); (R-HSA-9918432)", "pathway_count": 5, "publication_count": 219, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10064069;10228156;10600378;10777614;10825291;10929008;10982397;11160214;11163199;11237011;11466336;11514579;11825568;11840567;12042320;12436109;12436110;12643545;12645939;12665801;1286667;1286669;14681859;14718384;15104674;15286279;15565337;15927284;16193070;16258833;16465444;16473882;16905107;16940051;17056546;17081065;17088086;17308301;17316621;17507649;17656363;18692471;19119025;19193869;19217269;19261456;19342655;19361863;19426129;19575639;19851281;20068231;20112406;2038058;20400973;20605430;21050182;22153078;22424782;22645359;22898188;22905912;23090970;23481700;23584533;23613522;23719902;23783831;23826168;24129315;24188822;24190977;24275569;2450918;24715725;25083866;25418920;25469497;25502872;25576301;25576336;25645385;25813380;26154972;26208004;26811146;26853435;26929215;26992070;27090790;27383988;27452731;27600516;27846572;27862975;27893789;27897272;27920218;28063628;28218747;28228285;28228593;28467828;28510447;28649982;28832583;28834231;28855257;28860189;28871256;28904123;29237092;29242379;29314611;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30192525;30315122;30397120;30410026;30429286;30444036;30524438;30779550;31154438;31217245;31222486;31492838;31530632;31611695;31844290;31937595;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34229054;34357683;34405274;34433824;34509645;34725712;34904718;34932366;35051231;35083852;35154160;35215835;35251023;35318648;35494241;35561310;35580925;35948544;36010968;36104323;36215666;36241641;36284347;37217939;37549780;37938771;38412717;38665916;38761176;38793607;38861804;39138692;40307207;40596516;40914422;7487104;7642652;7876241;7876246;7945384;8102790;8342042;8624847;8687406;9150946;9150948;9205111;9399589;9605141", "class_list": "glycogene", "function": "CircPDIA3/miR-449a/XBP1 feedback loop curbs pyroptosis by inhibiting palmitoylation of the GSDME-C domain to induce chemoresistance of colorectal cancer., [RefSeq, PubMed]; Downregulation of PDIA3 inhibits gastric cancer cell growth through cell cycle regulation., [RefSeq, PubMed]; May function as a chaperone that inhibits aggregation of misfolded proteins. Negatively regulates the unfolded protein response (UPR) through binding to UPR sensors such as ERN1, which in turn inactivates ERN1 signaling. May also regulate the UPR via the EIF2AK3 UPR sensor. Plays a role in platelet aggregation and activation by agonists such as convulxin, collagen and thrombin., [UniProtKB, UniProtKB]; PDIA3 driven STAT3/PD-1 signaling promotes M2 TAM polarization and aggravates colorectal cancer progression., [RefSeq, PubMed]; PDIA3 modulates genomic response to 1,25-dihydroxyvitamin D3 in squamous cell carcinoma of the skin., [RefSeq, PubMed]; Protein disulfide isomerase that catalyzes the formation, isomerization, and reduction or oxidation of disulfide bonds in client proteins and functions as a protein folding chaperone (PubMed:11825568, PubMed:16193070, PubMed:27897272, PubMed:36104323, PubMed:7487104). Core component of the major histocompatibility complex class I (MHC I) peptide loading complex where it functions as an essential folding chaperone for TAPBP. Through TAPBP, assists the dynamic assembly of the MHC I complex with high affinity antigens in the endoplasmic reticulum. Therefore, plays a crucial role in the presentation of antigens to cytotoxic T cells in adaptive immunity (PubMed:35948544, PubMed:36104323)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Single-cell analysis identified PDIA3 as regulator of malignant characteristics and macrophage function in human cancers. Erratum:[Funct Integr Genomics. 2024 Sep 2;24(5):151. doi: 10.1007/s10142-024-01439-3. PMID: 39222202] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. This protein also functions as a molecular chaperone that prevents the formation of protein aggregates. [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 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": 3, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 572, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "Q13453;Q14255;Q8IYF8;Q9UMU7", "ec_number_list": "5.3.4.1;3.6.4.10;2.4.99.18;7.4.2.14;3.2.1.207", "go_molecular_function": "GO:0015036 disulfide oxidoreductase activity;GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0004629 phospholipase C activity;GO:0015035 protein-disulfide reductase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005925 focal adhesion", "go_biological_process": "GO:0002250 adaptive immune response;GO:0006457 protein folding;GO:0034976 response to endoplasmic reticulum stress;GO:0034975 protein folding in endoplasmic reticulum;GO:0002502 peptide antigen assembly with MHC class I protein complex", "synthesized_glycan_count": 0, "hit_score": 23.5, "record_id": "P30101-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q0VDE8-1", "uniprot_id": "ADIG_HUMAN", "mass": 9465.0, "length": 80, "protein_name": "Adipogenin", "gene_name": "ADIG", "organism": "Human", "refseq_name": "adipogenin isoform a", "refseq_ac": "NP_001380745", "gene_names_uniprotkb": "ADIG", "gene_names_refseq": "ADIG; SMAF1", "protein_names_uniprotkb": "Adipogenin", "protein_names_refseq": "adipogenesis associated; adipogenin isoform a; small adipocyte factor 1 (SMAF1)", "tax_id": 9606, "disease": "", "pathway": " (hsa:149685)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;15567149", "class_list": "", "function": "ADIG/SMAF1 is an adipocyte-specific protein that plays a role in adipocyte differentiation (Kim et al., 2005 [PubMed 15567149]; Hong et al., 2005 [PubMed 16132694]).[supplied by OMIM, Mar 2008]., [RefSeq]; Key regulator of lipid storage that promotes the expansion of lipid droplets during the formation of mature adipocytes. Acts by forming a dodecameric complex with seipin (BSCL2) when adipocytes have differentiated and are undergoing maturation. In the dodecameric complex, ADIG antagonizes the activity of BSCL2 by reducing BSCL2-mediated triacylglycerol nucleation and relieving BSCL2's inhibition of GPAT3 and GPAT4. GPAT3 and GPAT4 then translocate to lipid droplets, promoting the synthesis of triacylglycerols and the expansion of lipid droplets., [UniProtKB, UniProtKB]; Studies in mouse indicate the 80 aa SMAF1 protein is involved in adipocyte tissue function or regulation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0045600 positive regulation of fat cell differentiation;GO:0050872 white fat cell differentiation;GO:0050873 brown fat cell differentiation;GO:0019915 lipid storage", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q0VDE8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01100-1", "uniprot_id": "FOS_HUMAN", "mass": 40695.0, "length": 380, "protein_name": "Protein c-Fos", "gene_name": "FOS", "organism": "Human", "refseq_name": "protein c-Fos", "refseq_ac": "NP_005243", "gene_names_uniprotkb": "FOS; G0S7", "gene_names_refseq": "AP-1; C-FOS; FOS; p55", "protein_names_uniprotkb": "Protein c-Fos; Cellular oncogene fos; Fos proto-oncogene, AP-1 transcription factor subunit; G0/G1 switch regulatory protein 7; Proto-oncogene c-Fos; Transcription factor AP-1 subunit c-Fos", "protein_names_refseq": "FBJ murine osteosarcoma viral (v-fos) oncogene homolog (oncogene FOS); FBJ murine osteosarcoma viral oncogene homolog; Fos proto-oncogene, AP-1 trancription factor subunit; G0/G1 switch regulatory protein 7; activator protein 1; cellular oncogene c-fos; protein c-Fos; proto-oncogene c-Fos; transcription factor AP-1 subunit c-Fos", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); colorectal adenoma (Disease Ontology:DOID:0050860); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); immunodeficiency 82 (Disease Ontology:DOID:0061053); sleeping sickness (Disease Ontology:DOID:10112); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); hypospadias (Disease Ontology:DOID:10892); functional diarrhea (Disease Ontology:DOID:11371); Pick's disease (Disease Ontology:DOID:11870); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); epilepsy (Disease Ontology:DOID:1826); rectal benign neoplasm (Disease Ontology:DOID:1984); Wernicke encephalopathy (Disease Ontology:DOID:2384); morphine dependence (Disease Ontology:DOID:2560); glomerulonephritis (Disease Ontology:DOID:2921); temporal lobe epilepsy (Disease Ontology:DOID:3328); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); migraine (Disease Ontology:DOID:6364); amphetamine abuse (Disease Ontology:DOID:670); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); degenerative disc disease (Disease Ontology:DOID:90); acute myocardial infarction (Disease Ontology:DOID:9408); irritable bowel syndrome (Disease Ontology:DOID:9778); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:2353); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2871796); (R-HSA-450341); (R-HSA-6785807); (R-HSA-6796648); (R-HSA-9018519); (R-HSA-9031628); (R-HSA-9634638); (R-HSA-9768919); (R-HSA-9909649); (R-HSA-9976102)", "pathway_count": 13, "publication_count": 572, "publication_id_list": "10023775;10026222;10102273;10203854;10219247;10347217;10369418;10381005;10395673;10432220;10500157;10510379;10523831;10542244;10548110;10586089;10611221;10611312;10656257;10722742;10734128;10772813;10826704;10828826;10831586;10867011;10871633;10872467;10873660;10878576;10882540;10984481;10984493;11007481;11010967;11018254;11027551;11034064;11058569;11084045;11103799;11104795;11114305;11120780;11136970;11145955;11165043;11237011;11243864;11278437;11278486;11278729;11280768;11306453;11331872;11340163;11340169;11343657;11345900;11350971;11356008;11404481;11410592;11452016;11463377;11564866;11567222;11581164;11682626;11726503;11755530;11804587;11840323;11875118;11889117;11956230;11960372;11971958;11988758;11988847;12070310;12093740;12134156;12189133;12193592;12223527;12242343;12399542;12421820;12435631;12498683;12511643;12600988;12612073;12670394;12808055;12814430;12832402;12832467;12904306;12959972;12972619;13130464;1377233;14507994;14522948;14532106;14597720;14631847;14634100;14675539;14679213;14701734;14712222;14969744;15001666;15090535;15102911;15116091;15161978;15261459;15276198;15282324;15287722;15314172;15327282;15343269;15345050;15449318;1545828;15514030;15542842;15548136;15563468;15564374;15584925;15620361;1570299;15705661;15719069;15733869;15774718;15781865;15805299;15836632;15866172;15869882;15880109;15897899;15950906;15986123;16007214;16009131;16034366;16046058;16048438;16055710;16087863;16107692;16113099;16136673;16186825;16187211;16199154;16205632;16221685;16236134;16260776;16287845;1630819;16337592;16339507;16397018;16407550;16436515;16451196;16484497;16510571;16540365;16574654;1658710;16606674;16626623;16732277;16826196;16835357;16980581;17013392;17018293;17088210;17088211;17088212;17160021;17210787;17254968;17255097;17277772;17332741;17344414;17395714;17427945;17458857;17463000;17495528;17510434;17540168;17572495;17632064;17637753;17666587;17690249;17709345;17765224;17825402;17875933;17898216;18056528;18088355;18160048;18187655;18219272;18243101;18256232;18267069;18322535;1833716;18353781;18358809;18365017;18391968;18411265;18447642;18452278;18456662;18476782;18524893;18533032;18555777;18555778;1861162;18644974;18762174;18785877;18793328;18805503;18822310;19001364;19020303;19061646;19088198;19098913;19116276;19124156;19124833;19185846;19193899;19194657;19274700;19295514;19321454;19383337;19397496;19451217;19451218;19462008;19528227;19574218;19592646;19718048;19805069;19909365;19926875;20068231;2017159;20219941;20220130;20351173;2040600;20452968;20493732;20498280;20506119;2052361;20570965;20682797;2072895;20977903;21057636;2109185;21102457;21106759;21151129;21219922;21252155;21326363;21368041;21445275;21486943;21552553;21573489;21621608;21689689;21730069;2181374;2183031;21835891;21878914;21934649;21937440;21940756;21979375;21986495;21994466;22012619;22020331;22046235;22053691;22056668;22065583;22105363;22178396;22187936;22205702;22265404;22302795;22325352;22336108;2237820;22383755;22492511;22545144;22634325;22683641;22693070;22704330;22851691;22988298;23086340;23124025;23145106;23172665;23172872;23192763;23303788;23400877;23403292;23435229;23455323;23555662;23667255;23723241;23846687;23906331;23967200;24039841;2405250;24060757;24097101;24167369;24291638;24371278;24465693;24554720;24662513;24706756;24735615;24743777;24854081;24885040;24973012;24998469;2511004;2516827;25218447;25234944;25248477;25296600;25365482;25429106;25433557;25542856;25561469;25569790;25633194;25663755;25674852;25712099;25728767;25748042;25772364;26018600;26056233;26153859;26204489;26279144;26462610;26479350;26725323;2676516;27041596;27062924;27128622;27220739;27472814;27486656;27557932;27886276;28012964;28076410;28275114;28286024;28539435;2919170;29351928;29422527;29535732;29557506;29559111;29786170;30312728;30385408;30429286;3045126;30515991;31154438;3127059;31844290;31848261;32157095;32183950;32387766;3281094;32860047;32938616;32983136;33123756;34725712;3498214;35051231;35580925;36284347;3672127;3677090;38063270;38242196;38517374;40596516;41365299;6574479;7510216;7512451;7529288;7535770;7551568;7559524;7588619;7588633;7592934;7595538;7608156;7624335;7777577;7795521;7796300;7816143;7816602;7823924;7855889;7857651;7859739;7871435;7876254;7889942;7898939;7907877;7923378;7935485;7937828;7997270;8001816;8072547;8078588;8085155;8090221;8090222;8195246;8197458;8234276;8248197;8248782;8259215;8319905;8384717;8386592;8413215;8413279;8413306;8419924;8483478;8493579;8576248;8583621;8602263;8617720;8621622;8622669;8622688;8626550;8635462;8663118;8663278;8668165;8668170;8673706;8688489;8702662;8741839;8756618;8774846;8797861;8816495;8846784;8846918;8876171;8884985;8918830;8939459;8974401;8986718;8995445;9013879;9030721;9032251;9042862;9063748;9084409;9099726;9162092;9195981;9199319;9199344;9201922;9264403;9338790;9343422;9388265;9390517;9418898;9448290;9529249;9564042;9611253;9622090;9628874;9639556;9651359;9671459;9722618;9723655;9731700;9732876;9736340;9768359;9770464;9774344;9808461;9822675;9822744;9824166;9858769;9874564;9989831", "class_list": "", "function": "Expression of PVRL4, a molecular target for cancer treatment, is transcriptionally regulated by FOS., [RefSeq, PubMed]; Iron overload promotes the progression of MLL-AF9 induced acute myeloid leukemia by upregulation of FOS., [RefSeq, PubMed]; Nuclear phosphoprotein which forms a tight but non-covalently linked complex with the JUN/AP-1 transcription factor. In the heterodimer, FOS and JUN/AP-1 basic regions each seems to interact with symmetrical DNA half sites. On TGF-beta activation, forms a multimeric SMAD3/SMAD4/JUN/FOS complex at the AP1/SMAD-binding site to regulate TGF-beta-mediated signaling. Has a critical function in regulating the development of cells destined to form and maintain the skeleton. It is thought to have an important role in signal transduction, cell proliferation and differentiation. In growing cells, activates phospholipid synthesis, possibly by activating CDS1 and PI4K2A. This activity requires Tyr-dephosphorylation and association with the endoplasmic reticulum., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Single cell RNA-seq identifies a FOS/JUN-related monocyte signature associated with clinical response of heart failure patients with mesenchymal stem cell therapy., [RefSeq, PubMed]; The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. In some cases, expression of the FOS gene has also been associated with apoptotic cell death. [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": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 32, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A8K4E2;B4DQ65;P18849", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0044877 protein-containing complex 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:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016363 nuclear matrix", "go_biological_process": "GO:0003407 neural retina development;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006954 inflammatory response;GO:0032496 response to lipopolysaccharide;GO:0045471 response to ethanol", "synthesized_glycan_count": 0, "hit_score": 58.8, "record_id": "P01100-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N5Z0-1", "uniprot_id": "AADAT_HUMAN", "mass": 47352.0, "length": 425, "protein_name": "Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial", "gene_name": "AADAT", "organism": "Human", "refseq_name": "kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform a", "refseq_ac": "NP_001273611", "gene_names_uniprotkb": "AADAT; KAT2; KYAT2", "gene_names_refseq": "AADAT; KAT2; KATII; KYAT2", "protein_names_uniprotkb": "Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial; 2-aminoadipate aminotransferase; 2-aminoadipate transaminase; 2.6.1.39; 2.6.1.4; 2.6.1.63; 2.6.1.73; 2.6.1.7; AadAT; Alpha-aminoadipate aminotransferase; Glycine transaminase AADAT; KAT/AadAT; Kynurenine aminotransferase II; Kynurenine--glyoxylate transaminase AADAT; Kynurenine--oxoglutarate aminotransferase II; Kynurenine--oxoglutarate transaminase 2; Kynurenine--oxoglutarate transaminase II; Methionine--glyoxylate transaminase AADAT", "protein_names_refseq": "2-aminoadipate aminotransferase; 2-aminoadipate transaminase; KAT/AadAT; L kynurenine/alpha aminoadipate aminotransferase; glycine transaminase AADAT; kynurenine aminotransferase II; kynurenine--glyoxylate transaminase AADAT; kynurenine--oxoglutarate aminotransferase II; kynurenine--oxoglutarate transaminase 2; kynurenine--oxoglutarate transaminase II; kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform a; kynurenine/alpha-aminoadipate aminotransferase, mitochondrial; methionine--glyoxylate transaminase AADAT", "tax_id": 9606, "disease": "", "pathway": " (hsa:51166); (R-HSA-71064); (R-HSA-71240)", "pathway_count": 3, "publication_count": 48, "publication_id_list": "10049700;10391915;10642506;10672018;10775527;11083877;11237011;12007602;12126930;12140278;13069505;15274622;15364907;15880762;16376499;16477023;16491085;17242435;17671174;18056995;18056996;18262359;18620547;18775954;19338303;19885858;21097500;22241472;23478338;24043460;25892735;25931162;29393594;29769354;29777939;30367059;32157095;32768617;33767242;33981976;36241641;37217939;6434529;7514594;7883047;8294935;8666386;9180257", "class_list": "", "function": "A human cDNA encodes a 425-residue protein with a mitochondrial cleavage signal and a pyridoxal-phosphate binding site, ~70% identical to the mouse and rat AADAT orthologs. Bacterial expression studies confirm that the gene encodes AADAT activity., [RefSeq, PubMed]; Analysis of the crystal structure of kynurenine aminotransferase II, [RefSeq, PubMed]; Expression analysis of selected genes involved in tryptophan metabolic pathways in Egyptian children with Autism Spectrum Disorder and learning disabilities. Publication Status: Online-Only, [RefSeq, PubMed]; In this work, we assessed the relationship between single-nucleotide polymorphisms (SNPs) of KAT1, KAT2 and IDO1 gene encoding, and the risk of depression development. Our study was performed on the DNA isolated from peripheral blood of 281 depressed patients and 236 controls. We genotyped, by using TaqMan probes, four polymorphism., [RefSeq, PubMed]; N-Acetylcysteine Inhibits Kynurenine Aminotransferase II., [RefSeq, PubMed]; The free thyroxine(FT4)-associated variant rs6854291-influences transcript levels of kynurenine/alpha-aminoadipate aminotransferase (AADAT) in thyroid, implicating AADAT as the causal gene underlying the FT4 association at this locus. AADAT-rs6854291 is associated with both the 3,3',5-triiodothyronine (T3) levels and T3/T4 ratio. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]., [RefSeq]; Transaminase with broad substrate specificity. Has transaminase activity towards aminoadipate, kynurenine, methionine and glutamate. Shows activity also towards tryptophan, aspartate and hydroxykynurenine. Accepts a variety of oxo-acids as amino-group acceptors, with a preference for 2-oxoglutarate, 2-oxocaproic acid, phenylpyruvate and alpha-oxo-gamma-methiol butyric acid. Can also use glyoxylate as amino-group acceptor (in vitro)., [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": 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": "B3KP84;Q9UL02", "ec_number_list": "2.6.1.7;2.6.1.1;2.6.1.64;4.4.1.13;2.6.1.63;2.6.1.39;2.6.1.4;2.6.1.73", "go_molecular_function": "GO:0047315 kynurenine-glyoxylate transaminase activity;GO:0016212 kynurenine-oxoglutarate transaminase activity;GO:0030170 pyridoxal phosphate binding;GO:0042803 protein homodimerization activity;GO:0047536 2-aminoadipate transaminase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006103 2-oxoglutarate metabolic process;GO:0006536 glutamate metabolic process;GO:0033512 L-lysine catabolic process to acetyl-CoA via saccharopine;GO:0070189 kynurenine metabolic process;GO:1901605 alpha-amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q8N5Z0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49768-1", "uniprot_id": "PSN1_HUMAN", "mass": 52668.0, "length": 467, "protein_name": "Presenilin-1", "gene_name": "PSEN1", "organism": "Human", "refseq_name": "presenilin-1 isoform I-467", "refseq_ac": "NP_000012", "gene_names_uniprotkb": "PSEN1; AD3; PS1; PSNL1", "gene_names_refseq": "ACNINV3; AD3; CMD1U; FAD; PS-1; PS1; PSEN1; PSNL1; S182", "protein_names_uniprotkb": "Presenilin-1; 3.4.23.-; PS-1; Protein S182", "protein_names_refseq": "familial Alzheimer Disease; presenilin-1 isoform I-467", "tax_id": 9606, "disease": "frontotemporal dementia 1 (Disease Ontology:DOID:0051060); early-onset Parkinson's disease (Disease Ontology:DOID:0060894); Alzheimer's disease 3 (Disease Ontology:DOID:0110042); dilated cardiomyopathy 1U (Disease Ontology:DOID:0110455); Alzheimer's disease (Disease Ontology:DOID:10652); Pick's disease (Disease Ontology:DOID:11870); neurodegenerative disease (Disease Ontology:DOID:1289); dilated cardiomyopathy (Disease Ontology:DOID:12930); hidradenitis suppurativa (Disease Ontology:DOID:2280)", "pathway": " (hsa:5663); (R-HSA-1251985); (R-HSA-1474228); (R-HSA-193692); (R-HSA-205043); (R-HSA-2122948); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-2979096); (R-HSA-3928665); (R-HSA-6798695); (R-HSA-9013507); (R-HSA-9013700); (R-HSA-9017802); (R-HSA-9839383)", "pathway_count": 15, "publication_count": 388, "publication_id_list": "10025789;10037471;10079256;10090481;10200054;10206644;10206645;10208579;10229672;10386589;10430510;10439444;10441572;10447269;10533070;10545183;10551805;10551863;10593990;10631141;10644793;10658639;10706100;10713164;10809722;10811883;10854253;10879540;10882063;10899933;10934472;10958687;10964718;10986281;11006133;11027672;11044625;11094121;11104755;11171333;11226752;11237011;11375993;11448999;11518718;11524469;11561050;11568920;11679632;11701593;11710891;11740940;11796781;11799129;11823422;11861489;11872628;11920851;11953314;11987239;12048239;12050117;12056836;12058025;12209127;12214059;12354787;12370477;12391150;12484344;12493737;12530964;12552037;12679784;12727852;12740439;12807903;12843241;12843408;12913006;12973357;14515347;14567914;14576165;14759258;14960584;14973287;14980219;15004326;15023535;15107403;15122701;15234972;15274632;15341515;15345747;15351694;15364419;15385547;15533827;15534001;15534188;15534260;15546612;15569487;15574878;15591058;15652348;15701642;15760269;15824097;15829515;15848800;15851849;15958533;15965470;16061658;16093323;16126725;16133547;16252010;16284625;16305624;16344340;1649600;16511561;16530044;16628450;16630834;16631740;16738328;16752394;16773578;16825321;16897084;16912174;16916581;16959576;1698775;17003037;17018285;17028573;1707285;17081983;17099291;17114293;17186461;17332331;17354228;17360711;17366635;17389597;17401372;17428795;17456364;17502474;17608959;17646408;17646409;18043734;18077452;18237417;18296446;18374649;1840698;18418349;18430735;18434311;18469519;18485326;18578522;18628966;18653779;18658137;18667537;18669648;18691976;18700817;18713744;18824583;18824585;19000840;19010778;19047365;19151708;19208840;19524514;19567869;19571574;19596786;19640841;19651622;19657146;19667325;19714641;19726682;19797784;20058876;20068231;20142769;20156974;20164095;20299451;20456003;20460383;20496116;20929727;20972443;21030783;21143716;21238544;21248752;21297635;21335660;21406692;21441952;21501661;21632553;21670566;21784848;21864727;22159414;22162134;22443192;22461631;22503161;22529981;22658935;22658936;23035980;23123781;23186163;23230144;23650620;23843529;23845380;24121961;24308844;24495933;24582897;24714562;24829397;24842903;25043039;25125655;25356737;25394380;25502872;25576301;25645385;25740432;25880248;25918421;26145164;26280335;26549787;27073747;27452731;27600516;27726376;27862975;27930341;28228285;28269784;28467828;28514659;28533369;28832583;28834231;28855257;28904123;29175279;29242379;29404783;29437277;29466804;29493099;29508533;29557506;29632711;29769354;29786170;29856954;29856955;30180983;30200536;30315122;30598546;30626607;30630874;30779550;30833945;31154438;31222486;31530632;3153318;31844290;32157095;32162841;32350084;32357974;32387766;32502341;32938616;32983136;33298915;33537174;33592498;33717175;33912179;33968037;33981976;34171305;34185709;34357683;34433824;34509645;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36241641;36284347;37938771;38899694;38946496;39072908;39240956;7075587;7547873;7550356;7566092;7588063;7596406;7651536;803282;8226919;8313469;8574969;8626565;8634711;8634712;8641442;8692836;8733303;8804415;8837617;8875251;9065415;9070286;9115292;9144240;9148753;9172170;9173929;9200512;9207787;9207788;9225696;9244301;9298817;9315665;9384573;9384602;9437013;9461298;9462510;9485372;9507958;9521418;9521423;9590294;9604939;9620803;9651681;9694793;9719376;9738936;9819428;9831473;9833068;9851443;9851450;9852107;9915968", "class_list": "", "function": "A familial Alzheimer's disease associated mutation in presenilin-1 mediates amyloid-beta independent cell specific neurodegeneration. Publication Status: Online-Only, [RefSeq, PubMed]; APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer's Disease., [RefSeq, PubMed]; Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]., [RefSeq]; Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:10206644, PubMed:10545183, PubMed:10593990, PubMed:10811883, PubMed:10899933, PubMed:12679784, PubMed:12740439, PubMed:15274632, PubMed:20460383, PubMed:25043039, PubMed:26280335, PubMed:28269784, PubMed:30598546, PubMed:30630874). Requires the presence of the other members of the gamma-secretase complex for protease activity (PubMed:15274632, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (PubMed:10593990, PubMed:10811883, PubMed:10899933, PubMed:9738936). Stimulates cell-cell adhesion via its interaction with CDH1; this stabilizes the complexes between CDH1 (E-cadherin) and its interaction partners CTNNB1 (beta-catenin), CTNND1 and JUP (gamma-catenin) (PubMed:11953314). Under conditions of apoptosis or calcium influx, cleaves CDH1 (PubMed:11953314). This promotes the disassembly of the complexes between CDH1 and CTNND1, JUP and CTNNB1, increases the pool of cytoplasmic CTNNB1, and thereby negatively regulates Wnt signaling (PubMed:11953314, PubMed:9738936). Required for normal embryonic brain and skeleton development, and for normal angiogenesis (By similarity). Mediates the proteolytic cleavage of EphB2/CTF1 into EphB2/CTF2 (PubMed:17428795, PubMed:28269784). The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is therefore involved in calcium homeostasis (PubMed:16959576, PubMed:25394380). Involved in the regulation of neurite outgrowth (PubMed:15004326, PubMed:20460383). Is a regulator of presynaptic facilitation, spike transmission and synaptic vesicles replenishment in a process that depends on gamma-secretase activity. It acts through the control of SYT7 presynaptic expression (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Presenilin deficiency enhances tau phosphorylation and its secretion., [RefSeq, PubMed]; Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features., [RefSeq, PubMed]; Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors., [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": 24, "reported_mutagensis": 90, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6D3;O95465;Q14762;Q15719;Q15720;Q96P33;Q9UIF0", "ec_number_list": "3.2.1.25;3.5.1.92;3.6.5.2;3.2.1.20;2.5.1.18;2.4.1.-;2.4.1.275;2.4.1.22;2.4.1.38;2.4.1.90;3.1.3.5;3.1.3.2;3.1.3.48;2.7.10.1;3.4.16.2;3.4.23.-;7.6.2.-;2.3.2.27;2.3.1.51;2.3.1.23;2.3.1.67;2.3.1.25;7.6.2.1", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0004175 endopeptidase activity;GO:0005262 calcium channel activity;GO:0051117 ATPase binding;GO:0070851 growth factor receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0002265 astrocyte activation involved in immune response;GO:0003407 neural retina development;GO:0006509 membrane protein ectodomain proteolysis;GO:0007219 Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 38.9, "record_id": "P49768-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P13798-1", "uniprot_id": "ACPH_HUMAN", "mass": 81225.0, "length": 732, "protein_name": "Acylamino-acid-releasing enzyme", "gene_name": "APEH", "organism": "Human", "refseq_name": "acylamino-acid-releasing enzyme", "refseq_ac": "NP_001631", "gene_names_uniprotkb": "APEH; D3F15S2; D3S48E; DNF15S2", "gene_names_refseq": "AARE; ACPH; APEH; APH; D3F15S2; D3S48E; DNF15S2; OPH", "protein_names_uniprotkb": "Acylamino-acid-releasing enzyme; 3.4.19.1; AARE; APH; Acyl-peptide hydrolase; Acylaminoacyl-peptidase; OPH; Oxidized protein hydrolase", "protein_names_refseq": "N-acylaminoacyl-peptide hydrolase; acyl-peptide hydrolase; acylamino-acid-releasing enzyme; acylaminoacyl-peptidase; oxidized protein hydrolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:327); (R-HSA-6798695); (R-HSA-72764)", "pathway_count": 3, "publication_count": 94, "publication_id_list": "10358005;10395453;10719179;11237011;1740429;18452278;18539146;1861871;18669648;18767875;18984734;19415658;19664994;19690332;2006156;20068231;21406692;23186163;23301498;23481700;23650620;24275569;25502872;25576301;25645385;2565880;25880248;26154972;26768311;26811146;26992070;27846572;28228285;28467828;28510447;28514659;28649982;28832583;28904123;29242379;29314611;29493099;29508533;29557506;30315122;30429286;30484775;30524438;31020640;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33471263;33537174;33592498;33691108;33717175;33753553;33912179;33968037;33981976;34171305;34211107;34357683;34433824;34509645;34725712;34932366;35051231;35138101;35154160;35251023;35580925;36010968;36215666;36241641;36580660;37938771;38665916;40914422;7990965;8411161;8692836;8724851;9712840", "class_list": "glycogene", "function": "Aminopeptidase involved in the degradation of N(alpha)-acylated peptides. Displays exopeptidase activity toward N-formyl and N-acetyl peptides with a preference for dipeptide substrates (By similarity). Catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to generate an N-acetylated amino acid and a peptide with a free N-terminus (PubMed:10719179, PubMed:1740429, PubMed:2006156). It preferentially cleaves off Ac-Ala, Ac-Met and Ac-Ser (By similarity). Hydrolyzes N-formylated peptides likely arising from N-terminal proteolytic cleavage of bacterial and mitochondrial proteins. May act sequentially with ACY1 in the degradation of N-acylated peptides: APEH first cleaves N-acylaminoacids from N-acylated peptides, then ACY1 further hydrolyzes the N-acylaminoacid into free aminoacid and a carboxylate (By similarity). Displays endopeptidase activity involved in the degradation of oxidized and glycated proteins (PubMed:10719179)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Deubiquitinase UCHL1 Maintains Protein Homeostasis through the PSMA7-APEH-Proteasome Axis in High-grade Serous Ovarian Carcinoma., [RefSeq, PubMed]; Selective inhibition of acylpeptide hydrolase in SAOS-2 osteosarcoma cells: is this enzyme a viable anticancer target?, [RefSeq, PubMed]; This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [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": 816, "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": "Q9BQ33;Q9P0Y2", "ec_number_list": "3.4.19.12;3.6.4.13;1.1.1.42;2.4.2.1;3.4.21.46;1.16.3.1;1.11.1.6;4.1.2.13;2.4.1.1;5.3.1.9;5.1.3.-;3.4.23.5;3.4.22.52;3.4.22.1;3.6.4.10;3.2.1.31;2.5.1.18;1.13.11.-;1.13.11.34;3.3.2.6;3.4.11.4;1.1.1.205;4.2.99.18;5.6.2.4;3.6.5.-;4.2.1.24;3.4.19.1;5.3.2.1;5.3.3.12;2.7.10.2;2.7.11.1;2.7.1.40;3.4.24.35;3.1.6.14;3.1.6.12;3.2.1.23;2.7.1.11;5.4.2.11;5.4.2.4;2.7.4.6;2.7.13.3;3.4.22.27;2.7.11.24;3.5.4.5;5.4.2.2;2.4.1.186;3.6.1.-;2.7.1.1;2.7.1.-;2.3.3.8;3.6.4.6;5.2.1.8;3.1.1.47;3.1.1.-;3.5.4.6;1.11.1.24;3.5.1.23;3.5.1.-;3.5.1.109;2.7.11.22;2.7.11.23;2.3.2.5;2.3.2.26;3.6.1.6;5.4.2.7;3.4.25.1;2.3.2.27;3.4.18.1;4.1.2.4", "go_molecular_function": "GO:0003723 RNA binding;GO:0004252 serine-type endopeptidase activity;GO:0008242 omega peptidase activity;GO:0042802 identical protein binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:1904813 ficolin-1-rich granule lumen", "go_biological_process": "GO:0006415 translational termination;GO:0006508 proteolysis;GO:0050435 amyloid-beta metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P13798-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13867-1", "uniprot_id": "BLMH_HUMAN", "mass": 52562.0, "length": 455, "protein_name": "Bleomycin hydrolase", "gene_name": "BLMH", "organism": "Human", "refseq_name": "bleomycin hydrolase", "refseq_ac": "NP_000377", "gene_names_uniprotkb": "BLMH", "gene_names_refseq": "BH; BLMH; BMH", "protein_names_uniprotkb": "Bleomycin hydrolase; 3.4.22.40; BH; BLM hydrolase; BMH", "protein_names_refseq": "BLM hydrolase; bleomycin hydrolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:642); (R-HSA-983168)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10404591;11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18491316;18662542;19028597;19352404;19452197;19489725;19608861;19651622;19851334;19874575;19940261;2261476;23301498;24366607;24715725;25418920;25576301;26154972;26374642;26375851;26768311;26811146;26929215;26992070;27600516;27920218;28063628;28467828;28649982;28832583;29242379;29314611;29393594;29508533;29557506;29632046;30192525;30397120;30573663;30626607;30779550;30833945;31020640;31092671;31154438;31222486;31530632;31844290;31875550;31892708;32161166;32265295;32350084;32357974;32373127;32387766;32897882;32938616;32983136;33298915;33592498;33691108;33912179;33968037;34078123;34087483;34171305;34211107;34357683;34405274;34725712;35051231;35154160;35580925;36010968;36241641;37938771;38665916;40914422;8620487;8639621;9380723;9668046", "class_list": "", "function": "Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008]., [RefSeq]; Bleomycin hydrolase regulates the release of chemokines important for inflammation and wound healing by keratinocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Decapping Enzyme NUDT12 Partners with BLMH for Cytoplasmic Surveillance of NAD-Capped RNAs., [RefSeq, PubMed]; The normal physiological role of BLM hydrolase is unknown, but it catalyzes the inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B-aminoalaninamide moiety thus protecting normal and malignant cells from BLM toxicity., [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": 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": "B2R796;Q53F86;Q9UER9", "ec_number_list": "3.4.14.10;3.4.11.-;3.4.11.14;3.4.22.40;3.4.11.3", "go_molecular_function": "GO:0042802 identical protein binding;GO:0004180 carboxypeptidase activity;GO:0004177 aminopeptidase activity;GO:0004197 cysteine-type endopeptidase activity;GO:0008234 cysteine-type peptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0009636 response to toxic substance;GO:0000209 protein polyubiquitination;GO:0043418 homocysteine catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q13867-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92870-1", "uniprot_id": "APBB2_HUMAN", "mass": 83374.0, "length": 758, "protein_name": "Amyloid beta precursor protein binding family B member 2", "gene_name": "APBB2", "organism": "Human", "refseq_name": "amyloid beta precursor protein binding family B member 2 isoform b", "refseq_ac": "NP_001159522", "gene_names_uniprotkb": "APBB2; FE65L1; FE65L", "gene_names_refseq": "APBB2; FE65L1; FE65L", "protein_names_uniprotkb": "Amyloid beta precursor protein binding family B member 2; Amyloid-beta (A4) precursor protein-binding family B member 2; Protein Fe65-like 1", "protein_names_refseq": "Fe65-like 1; amyloid beta precursor protein binding family B member 2 isoform b; protein Fe65-like 1", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); cognitive disorder (Disease Ontology:DOID:1561)", "pathway": " (hsa:323)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;14527950;21406692;23186163;23481700;24275569;24714562;24715725;25576301;26728094;26992070;27862975;28832583;29242379;29508533;29557506;29786170;30418433;31217245;31844290;32157095;32502341;32938616;32983136;33298915;33537174;33592498;33717175;33968037;33981976;34087483;34165160;34171305;34182542;35051231;35580925;36010968;36284347;8855266", "class_list": "", "function": "FE65L1 potentiates gamma-secretase processing of APP CTFs. This requires binding of FE65L1 to APP and APP CTFs. Enhanced APP CTF processing can be detected in early endosome vesicles, [RefSeq, PubMed]; Hsa-miR-30a-3p attenuates gastric adenocarcinoma proliferation and metastasis via APBB2., [RefSeq, PubMed]; MiR2053p promotes lung cancer progression by targeting APBB2., [RefSeq, PubMed]; Plays a role in the maintenance of lens transparency, and may also play a role in muscle cell strength (By similarity). Involved in hippocampal neurite branching and neuromuscular junction formation, as a result plays a role in spatial memory functioning (By similarity). Activates transcription of APP (PubMed:14527950)., [UniProtKB, UniProtKB, PubMed]; The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "reported_glycation": 0, "reported_snv": 15, "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": "B4DSL4;E9PG87;Q8IUI6", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006939 smooth muscle contraction;GO:0035556 intracellular signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0050808 synapse organization", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q92870-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P25490-1", "uniprot_id": "TYY1_HUMAN", "mass": 44713.0, "length": 414, "protein_name": "Transcriptional repressor protein YY1", "gene_name": "YY1", "organism": "Human", "refseq_name": "transcriptional repressor protein YY1", "refseq_ac": "NP_003394", "gene_names_uniprotkb": "YY1; INO80S", "gene_names_refseq": "DELTA; GADEVS; INO80S; NF-E1; UCRBP; YIN-YANG-1; YY1", "protein_names_uniprotkb": "Transcriptional repressor protein YY1; Delta transcription factor; INO80 complex subunit S; NF-E1; YY-1; Yin and yang 1", "protein_names_refseq": "INO80 complex subunit S; YY-1; Yin and Yang 1 protein; delta transcription factor; transcriptional repressor protein YY1", "tax_id": 9606, "disease": "pleuropulmonary blastoma (Disease Ontology:DOID:4769); congestive heart failure (Disease Ontology:DOID:6000); type 1 diabetes mellitus (Disease Ontology:DOID:9744); Gabriele de Vries syndrome (MONDO:MONDO:0044738)", "pathway": " (hsa:7528); (R-HSA-5617472); (R-HSA-5689603); (R-HSA-5696394); (R-HSA-8866910); (R-HSA-9018519); (R-HSA-9976102)", "pathway_count": 7, "publication_count": 333, "publication_id_list": "10391953;10497269;10500157;10648798;10777502;10828826;10873660;11010967;11034064;11103799;11136970;11158321;11165043;11237011;11279143;11345900;11410592;11437367;11452016;11581164;11682626;12498683;12588874;12612073;12732143;12815074;12944386;12959972;14631847;14675539;14742321;14744778;15001666;15276198;15282324;15302935;15329343;15343269;15345050;15514030;15811629;15867264;15870067;15882621;15964821;15986123;16009131;16027160;16046058;16079151;16087863;16113099;16223728;1630819;16314846;16473935;16549775;1655281;16565220;16678110;16906146;16980581;17013392;17139257;17185360;17277772;17287340;17428788;17463000;17495528;17510434;1756725;17637753;17660710;17666587;17690249;17713478;17721549;17761849;17851529;17882165;17924679;17998543;18026119;18187655;18219272;18256232;18322535;18358809;18452278;18476782;18497827;18533032;18669648;18691976;18762174;18781158;18805503;18922472;18950698;19001364;19007248;19020303;19098913;19109893;19115252;19188440;19232136;19274700;19295514;19318566;19321454;19383337;1946405;19609301;19651622;19690332;19691289;19718048;19747919;1975088;19782034;19815555;19843847;19854132;20068231;20085832;20219941;20220130;20436459;20498280;20570965;20581866;20596523;20682797;20805357;20855601;21076407;21106759;21135142;21151129;21253604;21303910;21388382;21406692;21445275;21573489;21795679;2181374;21835891;21878914;21934649;21940756;22056668;22118460;22184066;22265404;22492511;22545144;22569366;22704330;22705304;22879880;22898188;23045548;23145106;23172872;23186163;23192763;23219899;23226345;23303788;23319653;23385818;23403292;23435229;23481700;23534758;23630040;23684889;23723241;23906331;24167369;24174538;24275569;24312487;24326773;24366607;24371278;24586203;24715725;24735615;24854081;24885040;24973012;24998469;25101834;25135475;25218447;25296600;2530630;25365482;25433557;25542856;25576301;25633194;25645385;25663755;25674852;2570724;25728767;25755297;25772240;25772364;25787250;25913784;26056233;26153859;26154972;26198631;26204489;26308378;26462610;26479350;26758079;26832794;26992070;27062924;27600516;27846572;27886276;27920218;28218747;28228285;28510447;28539435;28575647;28832583;28834231;28855673;2919170;29242379;29393594;29437277;29557506;29632046;29786170;29807053;30315122;30429286;3045126;30484775;30524438;30715269;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32350084;32387766;32488085;32502341;3281094;32897882;32938616;33298915;33592498;33936100;33968037;33981976;34019948;34087483;34093574;34171305;34211107;34405274;34509645;34563230;34932366;3498214;35051231;35561310;35580925;36010968;36241641;3677090;38665916;39063014;39090819;39265883;39448763;40596516;40914422;7488013;7501971;7559524;7831296;7891714;7906964;7908827;7935485;7937828;8168482;8195246;8197458;8419924;8674428;8759021;8876171;8895516;8942976;9016636;9162057;9182571;9201922;9218805;9272954;9338790;9388265;9482740;9493912;9528852;9611253;9642075;9671459;9687504;9731700;9790970;9850080", "class_list": "", "function": "DEAD/H-box helicase 11 is transcriptionally activated by Yin Yang-1 and accelerates oral squamous cell carcinoma progression., [RefSeq, PubMed]; ENAH transcriptionally activated by YY1 promotes growth and invasion of laryngocarcinoma cells through PI3K/AKT signaling., [RefSeq, PubMed]; Multifunctional transcription factor that exhibits positive and negative control on a large number of cellular and viral genes by binding to sites overlapping the transcription start site (PubMed:15329343, PubMed:17721549, PubMed:24326773, PubMed:25787250). Binds to the consensus sequence 5'-CCGCCATNTT-3'; some genes have been shown to contain a longer binding motif allowing enhanced binding; the initial CG dinucleotide can be methylated greatly reducing the binding affinity (PubMed:15329343, PubMed:17721549, PubMed:24326773, PubMed:25787250). The effect on transcription regulation is depending upon the context in which it binds and diverse mechanisms of action include direct activation or repression, indirect activation or repression via cofactor recruitment, or activation or repression by disruption of binding sites or conformational DNA changes (PubMed:15329343, PubMed:17721549, PubMed:24326773, PubMed:25787250). Its activity is regulated by transcription factors and cytoplasmic proteins that have been shown to abrogate or completely inhibit YY1-mediated activation or repression (PubMed:15329343, PubMed:17721549, PubMed:24326773, PubMed:25787250). For example, it acts as a repressor in absence of adenovirus E1A protein but as an activator in its presence (PubMed:1655281). Acts synergistically with the SMAD1 and SMAD4 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (PubMed:15329343). Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions (PubMed:15329343). May play an important role in development and differentiation. Proposed to recruit the PRC2/EED-EZH2 complex to target genes that are transcriptional repressed (PubMed:11158321). Involved in DNA repair (PubMed:18026119, PubMed:28575647). In vitro, binds to DNA recombination intermediate structures (Holliday junctions). Plays a role in regulating enhancer activation (PubMed:28575647). Recruits the PR-DUB complex to specific gene-regulatory regions (PubMed:20805357)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair; proposed to target the INO80 complex to YY1-responsive elements., [UniProtKB, PubMed, PubMed]; The Role of PTEN in Chemoresistance Mediated by the HIF-1alpha/YY1 Axis in Pediatric Acute Lymphoblastic Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor YY1-activated GNG5 facilitates glioblastoma cell growth, invasion, stemness and glycolysis through Wnt/beta-catenin pathway. Publication Status: Online-Only, [RefSeq, PubMed]; YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1. [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": 17, "reported_mutagensis": 1, "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": "Q14935", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0046332 SMAD binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031011 Ino80 complex;GO:0001650 fibrillar center;GO:0016604 nuclear body", "go_biological_process": "GO:0061052 negative regulation of cell growth involved in cardiac muscle cell development;GO:0060382 regulation of DNA strand elongation;GO:0033044 regulation of chromosome organization;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 33.6, "record_id": "P25490-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53H12-1", "uniprot_id": "AGK_HUMAN", "mass": 47137.0, "length": 422, "protein_name": "Acylglycerol kinase, mitochondrial", "gene_name": "AGK", "organism": "Human", "refseq_name": "acylglycerol kinase, mitochondrial isoform 1 precursor", "refseq_ac": "NP_060708", "gene_names_uniprotkb": "AGK; MULK", "gene_names_refseq": "AGK; CATC5; CTRCT38; MTDPS10; MULK", "protein_names_uniprotkb": "Acylglycerol kinase, mitochondrial; 2.7.1.107; 2.7.1.138; 2.7.1.94; HsMuLK; MuLK; Multi-substrate lipid kinase; Multiple substrate lipid kinase; hAGK", "protein_names_refseq": "acylglycerol kinase, mitochondrial isoform 1 precursor; acylglycerol kinase, mitochondrial; hAGK; hsMuLK; multi-substrate lipid kinase; multiple substrate lipid kinase", "tax_id": 9606, "disease": "Sengers syndrome (Disease Ontology:DOID:0080132); cataract 38 (Disease Ontology:DOID:0110245)", "pathway": " (hsa:55750); (R-HSA-1483206); (R-HSA-6802952)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "11237011;1168700;12440769;15252046;15630448;15939762;16269826;18004883;18974108;19549252;19608861;20068231;20526349;21424530;22277967;22284826;22415731;22745804;23266196;23481700;23583981;24135138;24338473;24345920;25002142;25204415;25208612;25502872;25576301;25645385;25892735;25907612;26755581;26992070;27452731;27920218;28228285;28712724;28712726;28832583;28904123;29242379;29493099;29769354;30315122;30524438;31217245;31844290;32157095;32350084;32357974;32387766;32938616;33141586;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34561969;35051231;35251023;35318648;35635053;35934718;36010968;36241641;37009826;37354892;40914422;9430674", "class_list": "", "function": "Acylglycerol kinase promotes ovarian cancer progression and regulates mitochondria function by interacting with ribosomal protein L39. Publication Status: Online-Only, [RefSeq, PubMed]; Circ_0008068 facilitates the oral squamous cell carcinoma development by microRNA-153-3p/acylgycerol kinase (AGK) axis., [RefSeq, PubMed]; High Expression of acylglycerol kinase is associated with development and progression of prostate cancer., [RefSeq, PubMed]; Identification and characterization of a novel lipid kinase that phosphorylates multiple substrates, MuLK, [RefSeq, PubMed]; Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively (PubMed:15939762). Does not phosphorylate sphingosine (PubMed:15939762). Phosphorylates ceramide (By similarity). Phosphorylates 1,2-dioleoylglycerol more rapidly than 2,3-dioleoylglycerol (By similarity). Independently of its lipid kinase activity, acts as a component of the TIM22 complex (PubMed:28712724, PubMed:28712726). The TIM22 complex mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane by forming a twin-pore translocase that uses the membrane potential as the external driving force (PubMed:28712724, PubMed:28712726). In the TIM22 complex, required for the import of a subset of metabolite carriers into mitochondria, such as ANT1/SLC25A4 and SLC25A24, while it is not required for the import of TIMM23 (PubMed:28712724). Overexpression increases the formation and secretion of LPA, resulting in transactivation of EGFR and activation of the downstream MAPK signaling pathway, leading to increased cell growth (PubMed:15939762)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases., [RefSeq, PubMed]; The chiral specificity of diacylglycerol kinase alpha, zeta & epsilon mimics the substrate specificity, with MuLK being the least selective and the epsilon isoform of diacylglycerol kinase exhibiting the greatest selectivity., [RefSeq, PubMed]; The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "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": "Q75KN1;Q96GC3;Q9NP48", "ec_number_list": "2.3.2.27;2.7.10.2;2.7.1.107;3.6.5.2;2.7.11.1;2.7.1.93;2.7.11.24;2.7.12.2;2.7.10.4;3.6.4.-;2.7.11.17;2.7.1.94;2.7.1.138;2.7.7.-;2.7.7.19;1.14.11.65;3.1.31.1", "go_molecular_function": "GO:0001729 ceramide kinase activity;GO:0004143 ATP-dependent diacylglycerol kinase activity;GO:0005524 ATP binding;GO:0047620 acylglycerol kinase activity;GO:0016301 kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0045039 protein insertion into mitochondrial inner membrane;GO:0046513 ceramide biosynthetic process;GO:0046512 sphingosine biosynthetic process;GO:0046486 glycerolipid metabolic process;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q53H12-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q0P651-1", "uniprot_id": "ABD18_HUMAN", "mass": 53044.0, "length": 464, "protein_name": "Cardiolipin-specific deacylase, mitochondrial", "gene_name": "ABHD18", "organism": "Human", "refseq_name": "protein ABHD18 isoform 4", "refseq_ac": "NP_001345380", "gene_names_uniprotkb": "ABHD18; C4orf29", "gene_names_refseq": "ABHD18; C4orf29", "protein_names_uniprotkb": "Cardiolipin-specific deacylase, mitochondrial; Abhydrolase domain-containing protein 18; Alpha/beta hydrolase domain-containing protein 18", "protein_names_refseq": "abhydrolase domain-containing protein 18; alpha/beta hydrolase domain-containing protein 18; protein ABHD18 isoform 4; protein ABHD18", "tax_id": 9606, "disease": "", "pathway": " (hsa:80167)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;25892735;28832583;29242379;29493099;29769354;32387766;34800366;40903572", "class_list": "", "function": "Catalyzes the hydrolysis of an acyl chain from the tetra-acylated cardiolipin (CL) and produces the tri-acylated monolysocardiolipin (MLCL) (PubMed:40903572). Prefers CL with shorter and saturated fatty acyl chains as substrates (PubMed:40903572). Together with Tafazzin (TAZ), it participates in the mechanism of CL remodeling, a process consisting of repetitive cycles of hydrolysis and reacylation of the fatty acids that make up CL, where the nascent acyl chains are replaced with longer, unsaturated chains (PubMed:40903572)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A2R8YEZ0;A1A4W8;A1A4W9;Q9H7A7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q0P651-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95081-1", "uniprot_id": "AGFG2_HUMAN", "mass": 48963.0, "length": 481, "protein_name": "Arf-GAP domain and FG repeat-containing protein 2", "gene_name": "AGFG2", "organism": "Human", "refseq_name": "arf-GAP domain and FG repeat-containing protein 2", "refseq_ac": "NP_006067", "gene_names_uniprotkb": "AGFG2; HRBL; RABR", "gene_names_refseq": "AGFG2; HRBL; RABR", "protein_names_uniprotkb": "Arf-GAP domain and FG repeat-containing protein 2; HIV-1 Rev-binding protein-like protein; RAB-R; Rev/Rex activation domain-binding protein related", "protein_names_refseq": "HIV-1 Rev-binding protein-like protein; Rev/Rex activation domain binding protein-related; arf-GAP domain and FG repeat-containing protein 2; arf-GAP domain and FG repeats-containing protein 2; nucleoporin; rev/Rex activation domain-binding protein related", "tax_id": 9606, "disease": "", "pathway": " (hsa:3268)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11237011;18077418;18510355;19608861;23555621;25502872;28510447;28649982;28657654;28832583;28904123;29242379;29351928;29393594;29557506;29789417;30620550;31217245;31492838;31844290;32157095;32357974;32574038;32938616;33214551;33298915;33592498;33691108;33912179;33968037;34019948;34087483;34846842;35132862;35138101;35254053;35513511;35705054;36010968;36240223;36284347;37340703;37541260;38253038;38665916;39302247;39531497;39534244;40307207;40596516;9303539;9799793", "class_list": "", "function": "This gene is a member of the HIV-1 Rev binding protein (HRB) family and encodes a protein with one Arf-GAP zinc finger domain, several phe-gly (FG) motifs, and four asn-pro-phe (NPF) motifs. This protein interacts with Eps15 homology (EH) domains and plays a role in the Rev export pathway, which mediates the nucleocytoplasmic transfer of proteins and RNAs. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Feb 2013]., [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": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 17, "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": 19, "binding_glycan_count": 0, "secondary_ac_list": "O75429;Q96AB9;Q96GL4", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0001675 acrosome assembly;GO:0007289 spermatid nucleus differentiation;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O95081-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q02410-1", "uniprot_id": "APBA1_HUMAN", "mass": 92865.0, "length": 837, "protein_name": "Amyloid-beta A4 precursor protein-binding family A member 1", "gene_name": "APBA1", "organism": "Human", "refseq_name": "amyloid-beta A4 precursor protein-binding family A member 1", "refseq_ac": "NP_001154", "gene_names_uniprotkb": "APBA1; MINT1; X11", "gene_names_refseq": "APBA1; D9S411E; LIN10; MINT1; X11ALPHA; X11A; X11", "protein_names_uniprotkb": "Amyloid-beta A4 precursor protein-binding family A member 1; Adapter protein X11alpha; Mint-1; Neuron-specific X11 protein; Neuronal Munc18-1-interacting protein 1", "protein_names_refseq": "adapter protein X11alpha; adaptor protein X11alpha; amyloid beta (A4) precursor protein-binding, family A, member 1 (X11); amyloid-beta A4 precursor protein-binding family A member 1; mint-1; neuron-specific X11 protein; neuronal munc18-1-interacting protein 1; phosphotyrosine-binding/-interacting domain (PTB)-bearing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:320); (R-HSA-212676); (R-HSA-6794361); (R-HSA-9609736)", "pathway_count": 4, "publication_count": 62, "publication_id_list": "11237011;11604393;12519779;15540461;15935055;16242404;16624946;16846852;17478680;17855605;17891149;17897391;17989281;17997397;18617632;18812509;18829961;19690332;20064387;20064388;20519524;20531236;21282647;23737971;24275569;25378172;25576301;26154972;27846572;28832583;29242379;29393594;29557506;29632711;30379171;30590034;31844290;32157095;32938616;32983136;33392160;33592498;33912179;34403115;35051231;35580925;36010968;36241641;37938771;7678331;7695896;7736595;8576240;8887653;9069287;9321393;9395480;9614075;9701566;9753324;9808458;9927700", "class_list": "", "function": "Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta. Component of the LIN-10-LIN-2-LIN-7 complex, which associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (By similarity)., [UniProtKB, UniProtKB]; RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma., [RefSeq, PubMed]; The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [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": 15, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O14914;O60570;Q5VYR8", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0008088 axo-dendritic transport;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q02410-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49748-1", "uniprot_id": "ACADV_HUMAN", "mass": 70390.0, "length": 655, "protein_name": "Very long-chain acyl-CoA dehydrogenase, mitochondrial", "gene_name": "ACADVL", "organism": "Human", "refseq_name": "very long-chain acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor", "refseq_ac": "NP_000009", "gene_names_uniprotkb": "ACADVL; VLCAD", "gene_names_refseq": "ACAD6; ACADVL; LCACD; VLCAD", "protein_names_uniprotkb": "Very long-chain acyl-CoA dehydrogenase, mitochondrial; 1.3.8.8; 1.3.8.9; Long-chain acyl-CoA dehydrogenase, mitochondrial; VLCAD", "protein_names_refseq": "acyl-Coenzyme A dehydrogenase, very long chain; long-chain acyl-CoA dehydrogenase, mitochondrial; very long-chain acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor; very long-chain acyl-CoA dehydrogenase, mitochondrial; very long-chain specific acyl-CoA dehydrogenase, mitochondrial", "tax_id": 9606, "disease": "very long chain acyl-CoA dehydrogenase deficiency (Disease Ontology:DOID:0080155); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:37); (R-HSA-381038); (R-HSA-77305)", "pathway_count": 3, "publication_count": 94, "publication_id_list": "10077518;10601334;10827079;11237011;12204115;13295225;1540149;15466936;1550553;16461360;16539657;17374501;17564966;18227065;18664523;19413330;19608861;21237683;21282569;23186163;25576301;26474213;26992070;27452731;27600516;27846572;28218747;28228285;28510447;28832583;29242379;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30429286;30484775;31154438;31222486;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33214551;33465208;33592498;33691108;33968037;33981976;34357683;34725712;34932366;35051231;35083852;35154160;35218577;35318648;35580925;35760926;36078043;36215666;36241641;36284347;36894992;37549443;37938771;38665916;39894887;40596516;7590364;7668252;7769092;8554073;8554625;8666242;8845838;9037597;9450183;9461620;9473480;9546340;9599005;9839948;9973285", "class_list": "", "function": "Catalyzes the first of the four reactions of the mitochondrial fatty acid beta-oxidation (FAO) pathway, which consists in the proR-proR stereospecific alpha, beta-dehydrogenation of fatty acyl-CoA thioesters using the electron transfer flavoprotein (ETF) as their physiologic electron acceptor, resulting in the formation of trans-2-enoyl-CoA ((2E)-enoyl-CoA) (PubMed:17564966, PubMed:18227065, PubMed:26474213, PubMed:7668252, PubMed:9461620, PubMed:9599005, PubMed:9839948). The mitochondrial FAO pathway is the major energy-producing process in tissues and is performed through cycles of four consecutive reactions (PubMed:26474213, PubMed:7668252). Each FAO cycle shortens the fatty acyl-CoA by two carbons, yielding one acetyl-CoA (for the citric acid cycle), one FADH(2), and one NADH (which donate electrons to the respiratory chain for ATP production) (PubMed:26474213, PubMed:7668252). Among the different mitochondrial acyl-CoA dehydrogenases, very long-chain specific acyl-CoA dehydrogenase acts specifically on fatty acyl-CoAs with saturated 12 to 24 carbons long primary chains (PubMed:17564966, PubMed:21237683, PubMed:9839948), but can also catalyze monounsaturated fatty acids such as oleate ((9Z)-octadecenoate), (9Z)-hexadecenoate, and others (PubMed:17564966). Can use (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate as substrate in vitro (which is not primarily used for energy but mainly beta-oxidized in the peroxisomes) (PubMed:17564966, PubMed:26474213). In addition, based on its established catalytic mechanism, and combined genetic interaction or mutant phenotype evidence, it is predicted to act also on substrates that have not been tested experimentally but are metabolized by mitochondrial FAO, including long-chain unsaturated fatty acids such as linoleate (9Z,12Z-octadecadienoate), linolenate (9Z,12Z,15Z-octadecatrienoate), and others (PubMed:26474213). Among the different mitochondrial acyl-CoA dehydrogenases, its FAO activity overlaps with that of ACAD9 and ACADL, but plays a primary role in tissues where it is the main long-chain ACAD expressed, such as the heart and skeletal muscle (PubMed:17564966)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening., [RefSeq, PubMed]; Hypermethylation of ACADVL is involved in the high-intensity interval training-associated reduction of cardiac fibrosis in heart failure patients. Publication Status: Online-Only, [RefSeq, PubMed]; Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation., [RefSeq, PubMed]; Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor delta Agonist Improves Cellular Bioenergetics. 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": 3, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 13, "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": "B4DEB6;F5H2A9;O76056;Q8WUL0", "ec_number_list": "1.3.8.7;1.3.8.8;1.3.8.9", "go_molecular_function": "GO:0003995 acyl-CoA dehydrogenase activity;GO:0004466 long-chain fatty acyl-CoA dehydrogenase activity;GO:0042802 identical protein binding;GO:0050660 flavin adenine dinucleotide binding;GO:0000062 fatty-acyl-CoA binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0031966 mitochondrial membrane;GO:0042645 mitochondrial nucleoid", "go_biological_process": "GO:0001659 temperature homeostasis;GO:0015980 energy derivation by oxidation of organic compounds;GO:0030855 epithelial cell differentiation;GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase;GO:0045717 negative regulation of fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "P49748-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05067-1", "uniprot_id": "A4_HUMAN", "mass": 86943.0, "length": 770, "protein_name": "Amyloid-beta precursor protein", "gene_name": "APP", "organism": "Human", "refseq_name": "amyloid-beta precursor protein isoform a precursor", "refseq_ac": "NP_000475", "gene_names_uniprotkb": "APP; A4; AD1", "gene_names_refseq": "AAA; ABETA; ABPP; AD1; APPI; APP; CTFgamma; CVAP; PN-II; PN2; alpha-sAPP; preA4", "protein_names_uniprotkb": "Amyloid-beta precursor protein; ABPP; AICD-50; AICD-57; AICD-59; AID(50); AID(57); AID(59); APPI; APP; Alpha-CTF; Alpha-secretase C-terminal fragment; Alzheimer disease amyloid A4 protein homolog; Alzheimer disease amyloid protein; Amyloid intracellular domain 50; Amyloid intracellular domain 57; Amyloid intracellular domain 59; Amyloid precursor protein; Amyloid-beta (A4) precursor protein; Amyloid-beta A4 protein; Beta-APP40; Beta-APP42; Beta-CTF; Beta-secretase C-terminal fragment; CVAP; Cerebral vascular amyloid peptide; PN-II; PreA4; Protease nexin-II", "protein_names_refseq": "alzheimer disease amyloid A4 protein homolog; alzheimer disease amyloid protein; amyloid beta (A4) precursor protein; amyloid beta A4 protein; amyloid precursor protein; amyloid-beta precursor protein isoform a precursor; beta-amyloid peptide(1-40); beta-amyloid peptide(1-42); beta-amyloid peptide; beta-amyloid precursor protein; cerebral vascular amyloid peptide; peptidase nexin-II; protease nexin-II; testicular tissue protein Li 2", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); diabetic encephalopathy (Disease Ontology:DOID:0050850); APP-related cerebral amyloid angiopathy (Disease Ontology:DOID:0070028); Alzheimer's disease 1 (Disease Ontology:DOID:0080348); traumatic brain injury (Disease Ontology:DOID:0081292); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); iron deficiency anemia (Disease Ontology:DOID:11758); alcoholic hepatitis (Disease Ontology:DOID:12351); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); middle cerebral artery infarction (Disease Ontology:DOID:3525); periodontitis (Disease Ontology:DOID:824); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:351); (R-HSA-114608); (R-HSA-3000178); (R-HSA-381426); (R-HSA-416476); (R-HSA-418594); (R-HSA-432720); (R-HSA-444473); (R-HSA-445989); (R-HSA-844456); (R-HSA-879415); (R-HSA-8862803); (R-HSA-8957275); (R-HSA-933542); (R-HSA-9609523); (R-HSA-9660826); (R-HSA-9769739); (R-HSA-977225); (R-HSA-9936686); (R-HSA-9936900)", "pathway_count": 20, "publication_count": 739, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10022829;10026136;10026158;10077652;10081969;10097139;10097173;10191087;10201399;10218588;10319819;10319874;10339611;10341243;10383380;10391242;10394364;10411933;10413512;10436028;10461923;10505431;10512690;10531386;10535332;10567430;10583407;10604467;10614670;10631141;10639123;10656250;10665499;10673326;10677483;10681545;10681634;10723127;10727532;10742146;10806211;10810289;10816430;10821838;10830966;10861009;10867787;10898936;10912521;10936190;10940221;10940222;10949910;10951195;10956649;10990447;11007482;11015615;11035113;11063718;11084047;11139587;11146006;11157473;11158056;11237011;11238108;11238726;11250653;11259413;11264294;11274207;11278841;11278849;11279131;11311152;11313357;11316783;11333915;11401442;11409420;11422208;11438549;11467836;11498534;11517218;11522292;11528419;11544248;11590439;11604391;11604418;11606061;11689470;11694590;11701763;11724784;11739083;11742120;11751371;11753430;11775062;11784781;11786556;11788658;11833835;11851430;11853546;11877420;118839;11910111;11943163;11967258;11994746;12025818;12032279;12034808;12052963;12120503;12142279;12151510;12191486;12214090;12221085;12225811;12241545;12379487;12454989;12466191;12470955;12566568;12611883;12615073;12654973;12665801;1270801;12729605;12810533;12859342;12904166;12907439;12917434;12935895;1302033;1303239;1303275;1307241;1363811;1370451;1372166;1374236;1376317;1383255;1406936;1415269;1435334;14501001;14506261;14527950;14529278;14567678;14595024;14630798;1465129;14715956;14761955;14970211;15064394;15075323;15084524;15126567;15145317;15178331;15201367;15212827;15296743;15297306;15304215;15308688;15312960;15347684;15358179;15364459;15365148;1544908;15469690;15485880;15499564;15525596;15590058;15642270;15668448;15708368;15708434;15708450;15834427;1587857;15951850;15962837;16029033;16056267;16130106;16135089;16154999;16155256;16161994;16174740;16178030;16182515;1618828;16268778;16293224;16335952;16339447;16361260;16407538;16493581;1651976;16619025;16634148;16672644;1671712;16753065;16754659;16769900;16777091;1678058;16799559;16806604;16816112;16867982;16888028;16908985;16923326;17036048;17047224;17047378;17051221;17062754;17068112;17074750;17116749;1718421;17207535;17239395;17249697;17312271;17349957;17382883;17425515;17435760;17453624;17506785;17517595;17545160;17588949;17598008;17603038;17635713;17703304;17728323;17850871;17855360;17895381;17909280;17953402;17985932;18003852;18065497;18070888;18083107;18292551;1837051;18434541;18446792;18449172;18461171;18462684;18468999;18477612;18484335;1849145;18515384;18577758;18691386;18702456;18838175;18936096;18980172;19011241;1902833;1905813;1908231;19150380;19194878;19225519;1925564;19297154;1930190;19361429;19366692;1944558;19559397;19570822;19576899;19581601;19651769;19658395;19664994;19666475;1969731;19698694;19775170;19828817;19865176;19901323;19901339;19923222;20023662;20068231;20209079;20212142;20230749;20303873;20375064;20427285;20528468;20551911;20580937;2059554;20599279;20676056;20676083;20697050;20708039;20807650;20811458;20842634;20966549;2110105;21102534;2111584;21116049;21182826;2118650;2125487;21307566;21444755;21466504;21490226;21526148;21575663;2161213;21613482;21620353;21636303;21642437;21654843;21712440;21743475;21789315;21806809;2182768;21849536;21868184;21932952;21949026;2195544;21955818;22005583;22065755;22131221;22134916;22144186;22197375;22248819;22299025;22301697;22317957;22424782;22428008;22457725;22544926;22576872;22580285;22584060;22618708;22654059;2271516;22786881;22899714;22922658;23011729;23041287;23090970;23129660;23142665;23246001;23375565;23399748;23533635;23555792;23584533;23595760;23609990;23640497;2364322;23683607;23739916;23813966;23817414;2384594;23860482;23878142;23916838;24086465;2409350;2412224;24190977;2420006;24275569;2430969;24336208;24392163;24523320;24554904;24610780;24618582;2476804;2479552;24833601;24887583;24893886;25024748;2506449;25072319;25122912;25168729;25179605;2534964;2538123;2538457;25415308;25502872;25523424;25535373;25576301;25645385;2569763;25713138;25713144;25813380;25855704;25880481;26018760;26091039;26116704;26154972;26417681;2649245;26549800;26668317;26675233;26686862;2675837;26807092;2681356;26898943;26992070;27193484;27226539;27458190;2748346;27600516;27701768;2783775;27846572;27862975;27920218;279930;28104892;28228285;2834384;2841328;28514659;28570778;28624365;28649982;28720718;2881207;28832583;28834231;28855257;28871256;28882996;28904123;2893289;2893290;2893291;2893379;2900137;2900981;29242231;29242379;29282295;29314611;29317506;29331515;2934737;29393594;29419409;2949367;29557506;29632711;29686315;29712950;29786170;29789417;30315122;3035556;3035574;30429286;30459171;30524438;3053705;30626607;30630874;30700553;30779550;3080684;30833945;3086311;30918026;3094007;31020640;31154438;31156159;31217245;31262782;31324691;31341647;3140222;3142462;31439947;31530632;31844290;31848261;31937595;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33091337;3312495;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34324289;34357683;34405274;34433824;34509645;34932366;35051231;35154160;35318648;35464218;35513511;35561310;35580925;3597385;36010968;36241641;36284347;3675579;36951953;37074911;3744129;3748453;37726033;37938771;3810169;38110576;3863104;38665916;39302247;39371012;39456746;39468028;40596516;450099;6193777;6323392;6439184;6457647;7478152;7499257;7499434;7513982;7516706;7519608;7523391;7525263;7525634;7525824;7527058;7527330;7537106;7538844;7542669;7543116;7559467;7588299;7588758;7683646;7685013;7689487;7693733;7698360;7737970;7763244;7852349;7865758;7913895;7929392;7937899;8002934;8015379;8033412;8043280;8097946;8109908;8114934;8131745;8144529;8154870;8158260;8159701;8178931;8229004;8248178;8267572;8290042;8344894;8374173;8406495;8440685;8446172;8464497;8467233;8476439;8490014;8522962;8524399;8529130;8576160;8577393;8624111;8626687;8639781;8664309;8670264;8764598;8781553;8787835;8798471;8798654;8817670;8848240;8855266;8870004;8886002;8887653;8894645;8915898;8943283;8964575;8973180;8999878;9006323;9008162;9023774;9054935;9108164;9109675;9168929;9218519;9228946;9252349;9294172;9300481;9305846;9328472;9338779;9341124;9346959;9357988;9459334;9469622;9497324;9562471;9585534;9685393;9689078;9693002;9709957;9733768;9733769;9733943;9754958;9770463;9786878;9843960;9862427;9862635;9865693;9890987;9922210;9949188", "class_list": "", "function": "Alzheimer's disease-associated amyloid beta-protein peptides display antimicrobial activity against C. albicans, E. coli, S. epidermidis, S. pneumoniae, S. aureus, L. monocytogenes, E. faecalis, and S. agalactiae. Publication Status: Online-Only, [RefSeq, PubMed]; Amyloid-beta peptides are lipophilic metal chelators with metal-reducing activity. Bind transient metals such as copper, zinc and iron. In vitro, can reduce Cu(2+) and Fe(3+) to Cu(+) and Fe(2+), respectively. Amyloid-beta peptides bind to lipoproteins and apolipoproteins E and J in the CSF and to HDL particles in plasma, inhibiting metal-catalyzed oxidation of lipoproteins. Promotes both tau aggregation and TPK II-mediated phosphorylation. Interaction with overexpressed HADH2 leads to oxidative stress and neurotoxicity. Also binds GPC1 in lipid rafts., [UniProtKB]; Appicans elicit adhesion of neural cells to the extracellular matrix and may regulate neurite outgrowth in the brain., [UniProtKB]; Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. Interaction between APP molecules on neighboring cells promotes synaptogenesis (PubMed:25122912). Involved in cell mobility and transcription regulation through protein-protein interactions. Can promote transcription activation through binding to APBB1-KAT5 and inhibits Notch signaling through interaction with Numb. Couples to apoptosis-inducing pathways such as those mediated by G(o) and JIP. Inhibits G(o) alpha ATPase activity (By similarity). Acts as a kinesin I membrane receptor, mediating the axonal transport of beta-secretase and presenilin 1 (By similarity). By acting as a kinesin I membrane receptor, plays a role in axonal anterograde transport of cargo towards synapses in axons (PubMed:17062754, PubMed:23011729). Involved in copper homeostasis/oxidative stress through copper ion reduction. In vitro, copper-metallated APP induces neuronal death directly or is potentiated through Cu(2+)-mediated low-density lipoprotein oxidation. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I and IV. The splice isoforms that contain the BPTI domain possess protease inhibitor activity. Induces a AGER-dependent pathway that involves activation of p38 MAPK, resulting in internalization of amyloid-beta peptide and leading to mitochondrial dysfunction in cultured cortical neurons. Provides Cu(2+) ions for GPC1 which are required for release of nitric oxide (NO) and subsequent degradation of the heparan sulfate chains on GPC1., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; More effective reductant than amyloid-beta protein 40. May activate mononuclear phagocytes in the brain and elicit inflammatory responses., [UniProtKB]; Pathology of Amyloid-beta (Abeta) Peptide Peripheral Clearance in Alzheimer's Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The gamma-CTF peptides as well as the caspase-cleaved peptides, including C31, are potent enhancers of neuronal apoptosis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The link between amyloid beta and ferroptosis pathway in Alzheimer's disease progression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]., [RefSeq]; Unveiling the effect of CaCl2 on amyloid beta aggregation via supercritical angle Raman and fluorescence spectroscopy and microscopy. 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": 3, "mined_n_glycosites": 0, "mined_o_glycosites": 3, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 9, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 36, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 38, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 38, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 17, "reported_mutagensis": 42, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 19, "disease_count": 14, "glyco_site_count": 40, "binding_glycan_count": 0, "secondary_ac_list": "B2R5V1;B4DII8;D3DSD1;D3DSD2;D3DSD3;P09000;P78438;Q13764;Q13778;Q13793;Q16011;Q16014;Q16019;Q16020;Q6GSC0;Q8WZ99;Q9BT38;Q9UC33;Q9UCA9;Q9UCB6;Q9UCC8;Q9UCD1;Q9UQ58", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0005102 signaling receptor binding;GO:0008201 heparin binding;GO:0016504 peptidase activator activity", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005641 nuclear envelope lumen;GO:0005737 cytoplasm", "go_biological_process": "GO:0032224 positive regulation of synaptic transmission, cholinergic;GO:0098989 NMDA selective glutamate receptor signaling pathway;GO:0001774 microglial cell activation;GO:0002265 astrocyte activation involved in immune response;GO:0006417 regulation of translation", "synthesized_glycan_count": 0, "hit_score": 80.0, "record_id": "P05067-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P53680-1", "uniprot_id": "AP2S1_HUMAN", "mass": 17018.0, "length": 142, "protein_name": "AP-2 complex subunit sigma", "gene_name": "AP2S1", "organism": "Human", "refseq_name": "AP-2 complex subunit sigma isoform 3", "refseq_ac": "NP_001288005", "gene_names_uniprotkb": "AP2S1; AP17; CLAPS2", "gene_names_refseq": "AP17; AP2S1; CLAPS2; FBH3; FBHOk; HHC3", "protein_names_uniprotkb": "AP-2 complex subunit sigma; Adaptor protein complex AP-2 subunit sigma; Adaptor-related protein complex 2 subunit sigma; Clathrin assembly protein 2 sigma small chain; Clathrin coat assembly protein AP17; Clathrin coat-associated protein AP17; HA2 17 kDa subunit; Plasma membrane adaptor AP-2 17 kDa protein; Sigma2-adaptin", "protein_names_refseq": "AP-2 complex subunit sigma isoform 3; HA2 17 kDa subunit; adaptor protein complex AP-2 subunit sigma; adaptor related protein complex 2 sigma 1 subunit; clathrin assembly protein 2 sigma small chain; clathrin coat assembly protein AP17; clathrin coat-associated protein AP17; clathrin-associated/assembly/adaptor protein, small 2 (17kD); plasma membrane adaptor AP-2 17 kDa protein; sigma-2; sigma2-adaptin", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); familial hypocalciuric hypercalcemia 3 (Disease Ontology:DOID:0060702)", "pathway": " (hsa:1175); (R-HSA-167590); (R-HSA-177504); (R-HSA-182218); (R-HSA-2132295); (R-HSA-3928665); (R-HSA-437239); (R-HSA-5099900); (R-HSA-5140745); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8866427); (R-HSA-8964038); (R-HSA-9679191); (R-HSA-9918485)", "pathway_count": 15, "publication_count": 458, "publication_id_list": "10036229;10064083;10072072;10087012;10097102;10224102;10436022;10438503;10480952;10535736;10540230;10542231;10559856;10559861;10559924;10567358;10593899;10608864;10613896;10625686;10631941;10631952;10639150;10747093;10748235;10766823;10769163;10804209;10809954;10818153;10983987;11071885;11076969;11082044;11157096;11231140;11237011;11239472;11247302;11337487;11448999;11454741;11470803;11516654;11517213;11529500;11532990;11577110;11584272;11588219;11684289;11790530;11813165;11853874;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12078484;12082080;12086608;12198549;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12464675;12682107;12717448;12742663;12748383;12847086;12942088;12944396;12952949;12958364;12973357;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;14731593;14745134;15098107;15134832;15166224;15202998;15252009;15260957;15265030;15318165;15339664;15351694;1535555;15473838;15502812;15502813;15507651;15649145;15671180;15703209;15728179;15749704;15802264;15838506;15848800;15895077;15911768;15916959;16103193;16103228;16115318;16159959;16179341;16181339;16215232;16242130;16326391;16330023;16410077;16459302;16460808;16511561;16516836;16522641;16618111;16707488;16723738;16798879;16824007;16880396;16903783;17018281;17018531;17035995;17117926;17142755;17158794;1718995;17199046;17267500;17283181;17360967;17428795;17452316;17456551;17494869;17512409;17522231;17540576;17609109;17662961;17681954;17713526;17762867;17765681;17978091;18032517;18039658;18046453;18093523;18166656;18199683;18266465;18292509;18388313;18478542;1847920;18644789;18691976;18713744;18772377;18775314;18782767;18790740;18819912;18981233;19033387;19092055;19140243;19141679;19196236;19278660;19287005;19296720;19458185;19520913;19536138;19563754;1956401;19564404;19575674;19582886;19592704;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;19910923;20033059;20059951;20112406;2014052;20211604;20223979;20231386;20351096;20427281;20428113;20448150;20496116;20826345;20946875;20947020;20947831;21102408;21116285;2115402;21187331;2121367;21273557;21278753;21316588;21441454;21445324;21482805;21499258;21613550;21734303;21779028;21841790;21883765;2190094;21927000;21927001;21962517;21995445;22099461;22101459;22118466;221835;22233676;22357968;22401777;22484487;22505844;22510808;22544926;22552008;2257624;22764087;22814904;22815487;22863004;22936343;22942912;23084921;23222959;23297414;23481700;23536704;23641311;23658209;23783831;23823722;23861397;23891661;2391366;24074594;24081735;24130457;24186068;24272870;24384571;2448316;24581490;24584101;24680432;24715725;24746795;24789820;24868095;24966051;25107275;25303366;25341920;25418920;25576301;25645385;25699256;25801024;25915661;26002965;26042225;26056282;26154972;26212330;26375851;26403691;26468529;26474739;26768311;26811146;26829388;26992070;2722848;27600516;27832191;27846572;27920218;28063628;28218747;28228285;28425720;28467828;28832583;28834231;2890644;29242379;29331515;29371260;29393594;29437277;29493099;29508533;29557506;29610346;29632046;29742433;29786170;29945920;30201761;30315122;30484775;30524438;30573663;30779550;30833945;31048504;31154438;31217245;31222486;31530632;31720911;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33859415;33866776;33912179;33936100;33968037;33981976;34019948;34032851;34087483;34171305;3417785;34185709;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36412210;37938771;6146630;7481823;7493978;7569928;7592972;7650016;7667286;7822302;7877694;8046351;8049197;8112342;8134367;8145819;8146180;8148318;8313912;8397411;8407899;8415765;8524399;8552632;8553074;8642258;8687433;8837779;8849454;8909537;8939989;8947036;9040778;9075930;9092476;9100026;9169477;9202021;9303539;9311912;9312039;9427626;9428629;9497313;9539769;9545226;9606180;9635431;9651214;9705237;9721721;9723620;9736607;9756920;9767099;9812899;9931503", "class_list": "", "function": "AP2S1 regulates APP degradation through late endosome-lysosome fusion in cells and APP/PS1 mice., [RefSeq, PubMed]; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity). May also play a role in extracellular calcium homeostasis., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mechanism of p38 MAPK-induced EGFR endocytosis and its crosstalk with ligand-induced pathways., [RefSeq, PubMed]; One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4Z4;O75977;Q6PK67", "ec_number_list": "", "go_molecular_function": "GO:0035615 clathrin adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030666 endocytic vesicle membrane;GO:0030669 clathrin-coated endocytic vesicle membrane;GO:0098794 postsynapse", "go_biological_process": "GO:0098884 postsynaptic neurotransmitter receptor internalization;GO:0006886 intracellular protein transport;GO:0030100 regulation of endocytosis;GO:0016192 vesicle-mediated transport;GO:0048268 clathrin coat assembly", "synthesized_glycan_count": 0, "hit_score": 46.1, "record_id": "P53680-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P29353-1", "uniprot_id": "SHC1_HUMAN", "mass": 62822.0, "length": 583, "protein_name": "SHC-transforming protein 1", "gene_name": "SHC1", "organism": "Human", "refseq_name": "SHC-transforming protein 1 isoform 3", "refseq_ac": "NP_001123512", "gene_names_uniprotkb": "SHC1; SHCA; SHC", "gene_names_refseq": "SHC1; SHCA; SHC", "protein_names_uniprotkb": "SHC-transforming protein 1; SH2 domain protein C1; SHC-transforming protein 3; SHC-transforming protein A; Src homology 2 domain-containing-transforming protein C1", "protein_names_refseq": "SH2 domain protein C1; SHC (Src homology 2 domain containing) transforming protein 1; SHC-transforming protein 1 isoform 3; SHC-transforming protein 3; SHC-transforming protein A", "tax_id": 9606, "disease": "glomerulosclerosis (Disease Ontology:DOID:0050851); familial hyperlipidemia (Disease Ontology:DOID:1168); hepatocellular carcinoma (Disease Ontology:DOID:684); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:6464); (R-HSA-1236382); (R-HSA-1250196); (R-HSA-1250347); (R-HSA-167044); (R-HSA-180336); (R-HSA-210993); (R-HSA-354192); (R-HSA-381038); (R-HSA-512988); (R-HSA-5637810); (R-HSA-5673001); (R-HSA-74749); (R-HSA-74751); (R-HSA-8853659); (R-HSA-8983432); (R-HSA-9020558); (R-HSA-9027284); (R-HSA-912526); (R-HSA-9634285); (R-HSA-9664565); (R-HSA-9665348); (R-HSA-9665686); (R-HSA-9674555); (R-HSA-9680350)", "pathway_count": 25, "publication_count": 509, "publication_id_list": "10.1101/2023.09.13.557529;10051567;10194451;10207047;10218944;10358752;10427092;10446041;10448070;10455108;10477686;10477722;10482988;10508167;10521483;10537111;10570274;10579907;10601334;10643150;10648629;10722704;10764799;10816433;10825200;10827079;10867024;10869344;10896916;10896934;10921922;10949031;10964917;10982827;10995764;11000521;11002419;11016927;11027663;11075717;11087732;11090077;11124936;11136978;11191051;11237011;11237712;11278435;11313946;11328862;11340297;11349134;11360177;11390647;11432829;11443118;11447223;11470823;11476890;11491658;11546808;11566266;11602589;11607834;11689432;11702783;11827484;11886862;11940607;11948181;11969368;11980671;12032311;12052829;12094235;12121613;12204115;12213123;12214266;12237775;12242309;12433361;12471035;12493740;12623850;12771945;12882960;12925710;12944901;1334462;1350088;1377053;1396555;1400495;14506247;14573619;14615605;1465135;14665640;14707138;14718169;14749497;14754902;14766744;15044950;15077177;15102829;15118073;15118125;15157149;15173008;15178252;15256466;1526987;15272003;15284455;15286081;15316024;15329413;15334074;15356145;15374980;1545823;15466936;15469846;15488758;15526160;15546878;15569713;15592455;15688026;1569084;15837797;15893672;15930121;16005629;16024644;16040750;16076873;16115959;16187797;16212621;1623525;16251354;16461360;16477002;16492764;16497976;16539657;16627759;16684964;16720384;16757337;16777603;16843263;16849543;1689311;16895971;16919435;16953218;16963224;16969069;1701053;17016520;1702217;1706616;17081983;1716764;17177598;17218263;1722201;17274988;17311002;17349580;17372273;17389395;17575237;17624957;17646646;17699773;17712310;17879956;17924679;17942920;17998941;18039657;1833064;1833065;18408761;18413839;18434644;18452278;18467591;18578522;18644434;18664523;18669648;18692472;18721752;18775330;18978815;1898771;19054851;19172738;19279408;19560417;19651622;19664994;19690332;19901323;19920141;20010870;20033049;20068231;20112406;20145185;20230923;20478380;20489731;2065657;20685851;20966921;21049007;21102635;21282569;21372320;21376233;21406692;2147944;21779497;21779505;21884975;2196173;21993244;22046346;22057045;22153499;22424782;22483114;22569528;22589270;22750304;22898188;22908275;23103841;23186163;23220880;23301498;23303910;23443682;23481700;23575685;23843458;23846654;23946459;23948973;24220695;24275569;24715725;2472219;24737791;24890514;24897931;24937142;24971884;25092874;25219551;25418920;2555171;25576301;25645385;2566907;25781681;25853726;25994018;26029847;26085527;26154972;26235028;26375550;26375851;26545934;26811146;2681215;26992070;27452731;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28274957;28492659;28514659;28778966;28832583;28834231;28904123;29242379;29393594;29437277;29490608;29493099;29508533;29557506;29632046;29632711;29786170;29967253;30301790;30314968;30379171;30449325;30484775;30524438;30644389;30779550;30833945;30854046;31135801;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33043033;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36284347;37371529;37523129;37938771;38763954;38805286;6148751;7473762;7478529;7478576;7499411;7512720;7513017;7513165;7521688;7535773;7537849;7539782;7541030;7541045;7542744;7544002;7559478;7568001;7590364;7597091;7600304;7641685;7651724;7665556;7681396;7731718;7737969;7739560;7805849;7809086;7929214;7935463;7972015;7973658;8007942;8022485;8036006;8052307;8084588;8101647;8155326;8195171;8197119;8294403;8355686;8394845;8400282;8483502;8493579;8524391;8530383;8530489;8530511;8617750;8628282;8631863;8631883;8631894;8637703;8643566;8647804;8662982;8663178;8663426;8665852;8665853;8666242;8674117;8677749;8700888;8702728;8702919;8710374;8755247;8810325;8816480;8874179;8939605;8939933;8940013;8940081;8947042;8977235;8980223;8981370;8995379;9030599;9037597;9038210;9047384;9049300;9083103;9099679;9108392;9108479;9111318;9121430;9126349;9148935;9162069;9162089;9175774;9192684;9192859;9209406;9225065;9226159;9232641;9233773;9254595;9299438;9351824;9407096;9422786;9446569;9450183;9473480;9488479;9491986;9512511;9544989;9566877;9604935;9632797;9660833;9685210;9685404;9690470;9710204;9741627;9764818;9764820;9766809;9864153;9872323;9883723;9885561;9927207;9927426;9973396", "class_list": "", "function": "CCDC6-RET fusion protein regulates Ras/MAPK signaling through the fusion- GRB2-SHC1 signal niche., [RefSeq, PubMed]; MicroRNA 452 regulates SHC1 expression in human colorectal cancer and colitis., [RefSeq, PubMed]; Signaling adapter that couples activated growth factor receptors to signaling pathways. Participates in a signaling cascade initiated by activated KIT and KITLG/SCF. Isoform p46Shc and isoform p52Shc, once phosphorylated, couple activated receptor tyrosine kinases to Ras via the recruitment of the GRB2/SOS complex and are implicated in the cytoplasmic propagation of mitogenic signals. Isoform p46Shc and isoform p52Shc may thus function as initiators of the Ras signaling cascade in various non-neuronal systems. Isoform p66Shc does not mediate Ras activation, but is involved in signal transduction pathways that regulate the cellular response to oxidative stress and life span. Isoform p66Shc acts as a downstream target of the tumor suppressor p53 and is indispensable for the ability of stress-activated p53 to induce elevation of intracellular oxidants, cytochrome c release and apoptosis. The expression of isoform p66Shc has been correlated with life span (By similarity). Participates in signaling downstream of the angiopoietin receptor TEK/TIE2, and plays a role in the regulation of endothelial cell migration and sprouting angiogenesis. Involved in the oncostatin-M-mediated signaling pathway through type II OSM receptor complex (heterodimers composed of OSMR and IL6ST) where it contributes to activation of the Ras/Raf/MAPK pathway through JAK1-dependent recruitment to OSMR subunit of OSMR complex and SHC1 association with GRB2 (PubMed:11016927)., [UniProtKB, PubMed, PubMed]; The mitochondria-related gene risk mode revealed p66Shc as a prognostic mitochondria-related gene of glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in signal transduction pathways, the longest (p66Shc) may be involved in regulating life span and the effects of reactive oxygen species. The other two isoforms, p52Shc and p46Shc, link activated receptor tyrosine kinases to the Ras pathway by recruitment of the GRB2/SOS complex. p66Shc is not involved in Ras activation. Unlike the other two isoforms, p46Shc is targeted to the mitochondrial matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]; YES1 Kinase Mediates the Membrane Removal of Rescued F508del-CFTR in Airway Cells by Promoting MAPK Pathway Activation via SHC1. 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": 41, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 12, "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": "B5BU19;D3DV78;O15290;Q5T180;Q5T183;Q5T184;Q5T185;Q5T186;Q8N4K5;Q96CL1", "ec_number_list": "", "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0005158 insulin receptor binding;GO:0005543 phospholipid binding;GO:0046875 ephrin receptor binding;GO:0005159 insulin-like growth factor receptor binding", "go_cellular_component": "GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0070435 Shc-EGFR complex", "go_biological_process": "GO:0001525 angiogenesis;GO:0008284 positive regulation of cell population proliferation;GO:0035556 intracellular signal transduction;GO:0043066 negative regulation of apoptotic process;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 51.4, "record_id": "P29353-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75955-1", "uniprot_id": "FLOT1_HUMAN", "mass": 47355.0, "length": 427, "protein_name": "Flotillin-1", "gene_name": "FLOT1", "organism": "Human", "refseq_name": "flotillin-1 isoform 2", "refseq_ac": "NP_001305804", "gene_names_uniprotkb": "FLOT1", "gene_names_refseq": "FLOT1", "protein_names_uniprotkb": "Flotillin-1", "protein_names_refseq": "flotillin-1 isoform 2; integral membrane component of caveolae", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); prostate cancer (Disease Ontology:DOID:10283); prostatic hypertrophy (Disease Ontology:DOID:11132); hyperprolactinemia (Disease Ontology:DOID:12700); hypothyroidism (Disease Ontology:DOID:1459); breast carcinoma (Disease Ontology:DOID:3459); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:10211); (R-HSA-5213460); (R-HSA-5675482); (R-HSA-8849932); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106)", "pathway_count": 7, "publication_count": 300, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;10931946;11058585;11085924;11167132;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12473120;12531887;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15850391;15866170;15944396;16112081;16116428;16184169;16217026;16282325;16467373;16495444;16519628;16630611;16630835;16776779;16777452;16777849;16862148;16896804;16914516;16917499;17077126;17081065;17198702;17562871;17644308;17702745;17765681;17804252;17932950;17942708;17976533;18083107;18158243;18218625;18227064;18570872;18578522;18669648;18691976;18707149;18802007;18829452;18991276;19007248;19413330;19494238;19524512;19524513;19605563;19635168;19673492;19681166;19690332;19713215;20030946;20068231;20101212;20400958;20591975;20600927;20628200;20660154;20682791;21148482;21351730;21373644;21399631;21454492;21565175;21576392;21654843;21699497;21737330;21757538;21865595;21936715;22096251;22265413;22298643;22305756;22421439;22673745;22790947;22817896;22911862;22992742;23186163;23200924;23255595;23434736;23481700;23572525;23870313;24059293;24086303;24128008;24259668;24275569;24316671;24335996;24352656;24366607;24703947;24714562;24715725;24813885;24933155;25211221;25418920;25425145;25502872;25505266;25576301;25645385;25673874;25704760;25852146;25893292;25996294;26321637;26371245;26375851;26529257;26775703;26811146;26866270;26887924;26900751;26933192;26992070;27145964;27216196;27481945;27846572;27920218;27986909;28063628;28112683;28196833;28228285;28467828;28510447;28584191;28657654;28661484;28832583;28834231;28855257;28904123;29146911;29242379;29314611;29393594;29485866;29493099;29508533;29557506;29632046;29632711;29681455;29786170;29883609;29883610;29930286;30315122;30429286;30484775;30770249;31031142;31105010;31138766;31217245;31358971;31844290;31871319;32157095;32203420;32265295;32269263;32350084;32357974;32488085;32502341;32561730;32897882;32938616;32983136;33091337;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34357683;34725712;34932366;34999730;35051231;35154160;35251023;35318648;35494241;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37011005;37772385;37928269;37938771;38374406;38686057;7479768;7569905;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8601796;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": "Circ_0003855 involvement of esophageal cancer progression through miR-622/FLOT1. Publication Status: Online-Only, [RefSeq, PubMed]; EIF4A3 Acts on the PI3K-AKT-ERK1/2-P70S6K Pathway through FLOT1 to Influence the Development of Lung Adenocarcinoma., [RefSeq, PubMed]; FLOT1 promotes gastric cancer progression and metastasis through BCAR1/ERK signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Flotillin-1 palmitoylation is essential for its stability and subsequent tumor promoting capabilities., [RefSeq, PubMed]; May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles., [UniProtKB]; The roles of FLOT1 in human diseases (Review). Review article, [RefSeq, PubMed]; This gene encodes an protein that localizes to the caveolae, which are small domains on the inner cell membranes. This protein plays a role in vesicle trafficking and cell morphology. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DVY7;Q969J8;Q9UHW1;Q9UNV8", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0035255 ionotropic glutamate receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005768 endosome;GO:0005769 early endosome;GO:0005886 plasma membrane", "go_biological_process": "GO:0022409 positive regulation of cell-cell adhesion;GO:0022617 extracellular matrix disassembly;GO:0035556 intracellular signal transduction;GO:0072659 protein localization to plasma membrane;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 30.3, "record_id": "O75955-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P21980-1", "uniprot_id": "TGM2_HUMAN", "mass": 77329.0, "length": 687, "protein_name": "Protein-glutamine gamma-glutamyltransferase 2", "gene_name": "TGM2", "organism": "Human", "refseq_name": "protein-glutamine gamma-glutamyltransferase 2 isoform a", "refseq_ac": "NP_001310245", "gene_names_uniprotkb": "TGM2", "gene_names_refseq": "G(h); TG(C); TGC; TGM2; hTG2; tTG", "protein_names_uniprotkb": "Protein-glutamine gamma-glutamyltransferase 2; 2.3.1.-; 2.3.2.13; 3.4.-.-; 3.5.1.44; Erythrocyte transglutaminase; G(h); Heart G alpha(h); Isopeptidase TGM2; Protein G alpha(h); Protein-glutamine deamidase TGM2; Protein-glutamine dopaminyltransferase TGM2; Protein-glutamine histaminyltransferase TGM2; Protein-glutamine noradrenalinyltransferase TGM2; Protein-glutamine serotonyltransferase TGM2; TG(C); TG2; TGC; TGase C; TGase H; TGase II; TGase-2; Tissue transglutaminase; Transglutaminase C; Transglutaminase H; Transglutaminase II; Transglutaminase-2; hTG2; hhG alpha(h); tTG; tTgase", "protein_names_refseq": "C polypeptide, protein-glutamine-gamma-glutamyltransferase; TGase C; TGase H; TGase II; TGase-2; erythrocyte transglutaminase; heart G alpha(h); hhG alpha(h); isopeptidase TGM2; protein G alpha(h); protein-glutamine deamidase TGM2; protein-glutamine dopaminyltransferase TGM2; protein-glutamine gamma-glutamyltransferase 2 isoform a; protein-glutamine gamma-glutamyltransferase 2; protein-glutamine histaminyltransferase TGM2; protein-glutamine noradrenalinyltransferase TGM2; protein-glutamine serotonyltransferase TGM2; tTgase; tissue transglutaminase; transglutaminase C; transglutaminase H; transglutaminase II", "tax_id": 9606, "disease": "maturity-onset diabetes of the young (Disease Ontology:DOID:0050524)", "pathway": " (hsa:7052)", "pathway_count": 1, "publication_count": 94, "publication_id_list": "11230166;11237011;11390390;11867708;12506096;1358880;15592455;15935280;1670766;1683874;16870138;16959974;17116873;17939176;18083107;18092889;18376241;19542224;20112406;20166139;20450932;20547769;22389828;22442151;22759359;23200849;23797785;23941696;24275569;24349085;25192068;25576301;25588142;26250429;26853435;26992070;27131890;27270573;27397612;27548641;27862975;28198360;28858494;28904123;2903073;29557506;29618516;30321187;30379171;30397120;30429286;30458214;30833945;30867594;31844290;31848261;31991788;32157095;32161166;32273471;32387766;32488085;32938616;32983136;33123756;33214551;33298915;33592498;33968037;34019948;34405274;34725712;34932366;35051231;35318648;35580925;36241641;36284347;37938771;38474044;38665916;38667282;38959038;39024127;39134806;7592956;7649299;7935379;8611626;8943303;9212111;9252372;9575137;9623982", "class_list": "", "function": "Biological Implications and Functional Significance of Transglutaminase Type 2 in Nervous System Tumors. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Calcium-dependent acyltransferase that catalyzes the formation of covalent bonds between peptide-bound glutamine and various primary amines, such as gamma-amino group of peptide-bound lysine, or mono- and polyamines, thereby producing cross-linked or aminated proteins, respectively (PubMed:23941696, PubMed:31991788, PubMed:9252372). Involved in many biological processes, such as bone development, angiogenesis, wound healing, cellular differentiation, chromatin modification and apoptosis (PubMed:1683874, PubMed:27270573, PubMed:28198360, PubMed:7935379, PubMed:9252372). Acts as a protein-glutamine gamma-glutamyltransferase by mediating the cross-linking of proteins, such as ACO2, HSPB6, FN1, HMGB1, RAP1GDS1, SLC25A4/ANT1, SPP1 and WDR54 (PubMed:23941696, PubMed:24349085, PubMed:29618516, PubMed:30458214). Under physiological conditions, the protein cross-linking activity is inhibited by GTP; inhibition is relieved by Ca(2+) in response to various stresses (PubMed:18092889, PubMed:7592956, PubMed:7649299). When secreted, catalyzes cross-linking of proteins of the extracellular matrix, such as FN1 and SPP1 resulting in the formation of scaffolds (PubMed:12506096). Plays a key role during apoptosis, both by (1) promoting the cross-linking of cytoskeletal proteins resulting in condensation of the cytoplasm, and by (2) mediating cross-linking proteins of the extracellular matrix, resulting in the irreversible formation of scaffolds that stabilize the integrity of the dying cells before their clearance by phagocytosis, thereby preventing the leakage of harmful intracellular components (PubMed:7935379, PubMed:9252372). In addition to protein cross-linking, can use different monoamine substrates to catalyze a vast array of protein post-translational modifications: mediates aminylation of serotonin, dopamine, noradrenaline or histamine into glutamine residues of target proteins to generate protein serotonylation, dopaminylation, noradrenalinylation or histaminylation, respectively (PubMed:23797785, PubMed:30867594). Mediates protein serotonylation of small GTPases during activation and aggregation of platelets, leading to constitutive activation of these GTPases (By similarity). Plays a key role in chromatin organization by mediating serotonylation and dopaminylation of histone H3 (PubMed:30867594, PubMed:32273471). Catalyzes serotonylation of 'Gln-5' of histone H3 (H3Q5ser) during serotonergic neuron differentiation, thereby facilitating transcription (PubMed:30867594). Acts as a mediator of neurotransmission-independent role of nuclear dopamine in ventral tegmental area (VTA) neurons: catalyzes dopaminylation of 'Gln-5' of histone H3 (H3Q5dop), thereby regulating relapse-related transcriptional plasticity in the reward system (PubMed:32273471). Regulates vein remodeling by mediating serotonylation and subsequent inactivation of ATP2A2/SERCA2 (By similarity). Also acts as a protein deamidase by mediating the side chain deamidation of specific glutamine residues of proteins to glutamate (PubMed:20547769, PubMed:9623982). Catalyzes specific deamidation of protein gliadin, a component of wheat gluten in the diet (PubMed:9623982). May also act as an isopeptidase cleaving the previously formed cross-links (PubMed:26250429, PubMed:27131890). Also able to participate in signaling pathways independently of its acyltransferase activity: acts as a signal transducer in alpha-1 adrenergic receptor-mediated stimulation of phospholipase C-delta (PLCD) activity and is required for coupling alpha-1 adrenergic agonists to the stimulation of phosphoinositide lipid metabolism (PubMed:8943303)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Distinct conformational states enable transglutaminase 2 to promote cancer cell survival versus cell death. Publication Status: Online-Only, [RefSeq, PubMed]; Has cytotoxic activity: is able to induce apoptosis independently of its acyltransferase activity., [UniProtKB, PubMed]; Regulation of AMPK and GAPDH by Transglutaminase 2 Plays a Pivotal Role in Microvascular Leakage in Diabetic Retinas., [RefSeq, PubMed]; Structural and mechanistic analysis of Ca[2+]-dependent regulation of transglutaminase 2 activity using a Ca[2+]-bound intermediate state., [RefSeq, PubMed]; The Role of Transglutaminase 2 in Cancer: An Update. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two 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": 6, "reported_mutagensis": 23, "reported_glycation": 0, "reported_snv": 26, "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": "E1P5V9;Q16436;Q6B838;Q9BTN7;Q9H035;Q9UH35", "ec_number_list": "2.3.2.13;3.4.-.-;2.3.1.-;3.5.1.44", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005525 GTP binding;GO:0005509 calcium ion binding;GO:0008233 peptidase activity;GO:0003810 protein-glutamine gamma-glutamyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0051057 positive regulation of small GTPase mediated signal transduction;GO:1903672 positive regulation of sprouting angiogenesis;GO:0006508 proteolysis;GO:0030198 extracellular matrix organization;GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P21980-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35612-1", "uniprot_id": "ADDB_HUMAN", "mass": 80854.0, "length": 726, "protein_name": "Beta-adducin", "gene_name": "ADD2", "organism": "Human", "refseq_name": "beta-adducin isoform a", "refseq_ac": "NP_001171983", "gene_names_uniprotkb": "ADD2; ADDB", "gene_names_refseq": "ADD2; ADDB", "protein_names_uniprotkb": "Beta-adducin; Erythrocyte adducin subunit beta", "protein_names_refseq": "adducin 2 (beta); beta-adducin isoform a; erythrocyte adducin subunit beta", "tax_id": 9606, "disease": "spastic quadriplegic cerebral palsy 3 (Disease Ontology:DOID:0081361); hereditary spherocytosis type 1 (Disease Ontology:DOID:0110916); hypertension (Disease Ontology:DOID:10763); cerebral palsy (Disease Ontology:DOID:1969); IgA glomerulonephritis (Disease Ontology:DOID:2986)", "pathway": " (hsa:119); (R-HSA-5223345)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "10571941;11237011;11326272;11326338;11401429;12297987;12297989;12951058;13130483;14984739;15345747;15804357;16116087;16765915;17166836;18057121;18347014;1840603;18452278;18510355;18930737;19262752;19413330;1955075;19651622;19664994;19717468;21406692;21697133;22119785;22649030;23169667;23186163;24275569;24725410;24790029;25418920;25576301;26620797;26635246;26824658;26992070;27102039;28834231;28904123;29557506;29901076;30379171;30524438;31154438;31844290;32157095;32350084;32387766;32488085;32897882;32938616;32983136;33592498;33936100;33968037;34171305;34509645;35051231;35318648;35561310;35580925;37938771;4018271;40596516;7615546;7619062;7749638;8566798;8810272;9114041;9537412;9679146", "class_list": "glycogene;glycosylhydrolase", "function": "Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]., [RefSeq]; Betaadducin was demonstrated to have a critical role in neutrophil migration., [RefSeq, PubMed]; Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to the erythrocyte membrane receptor SLC2A1/GLUT1 and may therefore provide a link between the spectrin cytoskeleton to the plasma membrane. Binds to calmodulin. Calmodulin binds preferentially to the beta subunit., [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": 37, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 851, "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": "A8K4P2;B4DM17;D6W5G7;D6W5G8;Q13482;Q16412;Q59G82;Q5U5P4;Q6P0P2;Q6PGQ4;Q7Z688;Q7Z689;Q7Z690;Q7Z691", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0005516 calmodulin binding;GO:0019901 protein kinase binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0044853 plasma membrane raft", "go_biological_process": "GO:0030036 actin cytoskeleton organization;GO:0051016 barbed-end actin filament capping;GO:0051017 actin filament bundle assembly;GO:0007416 synapse assembly;GO:0050900 leukocyte migration", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P35612-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUH5-1", "uniprot_id": "ZDH17_HUMAN", "mass": 72640.0, "length": 632, "protein_name": "Palmitoyltransferase ZDHHC17", "gene_name": "ZDHHC17", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC17 isoform 1", "refseq_ac": "NP_056151", "gene_names_uniprotkb": "ZDHHC17; HIP14; HIP3; HSPC294; HYPH; KIAA0946", "gene_names_refseq": "DHHC-17; DHHC17; HIP14; HIP3; HSPC294; HYPH; ZDHHC17", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC17; 2.3.1.-; 2.3.1.225; Acyltransferase ZDHHC17; DHHC domain-containing cysteine-rich protein 17; DHHC17; HIP-14; HIP-3; Huntingtin yeast partner H; Huntingtin-interacting protein 14; Huntingtin-interacting protein 3; Huntingtin-interacting protein H; Putative MAPK-activating protein PM11; Putative NF-kappa-B-activating protein 205; Zinc finger DHHC domain-containing protein 17", "protein_names_refseq": "DHHC domain-containing cysteine-rich protein 17; acyltransferase ZDHHC17; acyltransferase ZDHHC7; huntingtin interacting protein 14; huntingtin interacting protein 3; huntingtin yeast partner H; huntingtin-interacting protein H; palmitoyltransferase ZDHHC17 isoform 1; palmitoyltransferase ZDHHC17; putative MAPK-activating protein PM11; putative NF-kappa-B-activating protein 205; zinc finger DHHC domain-containing protein 17; zinc finger DHHC-type containing 17; zinc finger DHHC-type palmitoyltransferase 17", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858)", "pathway": " (hsa:23390)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;12393793;12761501;15489887;15603740;18032660;18794299;19139280;19434754;22496366;24705354;25547411;25892735;26198635;27911442;28649982;28757145;28834231;28855257;28882895;29242379;29314611;29393594;29475958;29769354;31844290;31938047;32350084;32357974;32387766;32938616;33298915;33592498;33912179;33936100;33968037;34357683;34509645;35051231;35251023;35561310;9700202", "class_list": "", "function": "Activation of JNK and p38 MAPK Mediated by ZDHHC17 Drives Glioblastoma Multiforme Development and Malignant Progression. Publication Status: Online-Only, [RefSeq, PubMed]; Has the ability to induce colony formation in cell culture, anchorage-independent growth, and tumors in mice GeneRIF: HIP14 is a protein: palmitoyl acyltransferase, [RefSeq, PubMed]; Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates and is involved in a variety of cellular processes (PubMed:15489887, PubMed:15603740, PubMed:24705354, PubMed:27911442, PubMed:28757145). 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). Palmitoyltransferase specific for a subset of neuronal proteins, including SNAP25, DLG4/PSD95, GAD2, SYT1 and HTT (PubMed:15489887, PubMed:15603740, PubMed:19139280, PubMed:28757145). Also palmitoylates neuronal protein GPM6A as well as SPRED1 and SPRED3 (PubMed:24705354). Could also play a role in axonogenesis through the regulation of NTRK1 and the downstream ERK1/ERK2 signaling cascade (By similarity). May be involved in the sorting or targeting of critical proteins involved in the initiating events of endocytosis at the plasma membrane (PubMed:12393793). May play a role in Mg(2+) transport (PubMed:18794299). Could also palmitoylate DNAJC5 and regulate its localization to the Golgi membrane (By similarity). Palmitoylates CASP6, thereby preventing its dimerization and subsequent activation (PubMed:27911442)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 6, "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": "B4DR39;O75407;Q7Z2I0;Q86W89;Q86YK0;Q9P088;Q9UPZ8", "ec_number_list": "2.3.1.225;6.3.1.2;2.3.1.-", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity;GO:0019705 protein-cysteine S-myristoyltransferase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0042734 presynaptic membrane;GO:0030660 Golgi-associated vesicle membrane", "go_biological_process": "GO:0007409 axonogenesis;GO:0042953 lipoprotein transport;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0070372 regulation of ERK1 and ERK2 cascade;GO:0043067 regulation of programmed cell death", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q8IUH5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N6L0-1", "uniprot_id": "KASH5_HUMAN", "mass": 62783.0, "length": 562, "protein_name": "Protein KASH5", "gene_name": "KASH5", "organism": "Human", "refseq_name": "protein KASH5", "refseq_ac": "NP_653289", "gene_names_uniprotkb": "KASH5; CCDC155", "gene_names_refseq": "CCDC155; KASH5; POF22; SPGF88", "protein_names_uniprotkb": "Protein KASH5; Coiled-coil domain-containing protein 155; KASH domain-containing protein 5", "protein_names_refseq": "KASH domain-containing protein 5; coiled-coil domain containing 155; protein KASH5", "tax_id": 9606, "disease": "spermatogenic failure 88 (Disease Ontology:DOID:0070587); primary ovarian insufficiency (Disease Ontology:DOID:5426); premature ovarian failure 22 (MONDO:MONDO:0957822)", "pathway": " (hsa:147872)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;29237092;29790874;31844290;32387766;32938616;35051231;35580925;35587281;35674372;35708642;36864840", "class_list": "", "function": "A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans. Publication Status: Online-Only, [RefSeq, PubMed]; As a 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. Required for telomere attachment to nuclear envelope in the prophase of meiosis (PubMed:35587281). Required for rapid telomere prophase movements implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redundantly. Required for homolog pairing during meiotic prophase in spermatocytes and probably oocytes. Essential for male and female gametogenesis (PubMed:35587281). Recruits cytoplasmic dynein to telomere attachment sites at the nuclear envelope in spermatocytes. In oocytes is involved in meiotic resumption and spindle formation., [UniProtKB, UniProtKB, PubMed]; Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency by Disordered Meiotic Homologous Pairing., [RefSeq, PubMed]; Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans., [RefSeq, PubMed]; Novel bi-allelic variants in KASH5 are associated with meiotic arrest and non-obstructive azoospermia., [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": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q96MC3", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0070840 dynein complex binding", "go_cellular_component": "GO:0090619 meiotic spindle pole;GO:0005640 nuclear outer membrane;GO:0000800 lateral element;GO:0000781 chromosome, telomeric region;GO:0034993 meiotic nuclear membrane microtubule tethering complex", "go_biological_process": "GO:0090220 chromosome localization to nuclear envelope involved in homologous chromosome segregation;GO:0007015 actin filament organization;GO:0051653 spindle localization;GO:0007129 homologous chromosome pairing at meiosis;GO:0051225 spindle assembly", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8N6L0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZF0-1", "uniprot_id": "NALCN_HUMAN", "mass": 200331.0, "length": 1738, "protein_name": "Sodium leak channel NALCN", "gene_name": "NALCN", "organism": "Human", "refseq_name": "sodium leak channel NALCN isoform 2", "refseq_ac": "NP_443099", "gene_names_uniprotkb": "NALCN; VGCNL1", "gene_names_refseq": "CLIFAHDD; CanIon; IHPRF1; IHPRF; INNFD; NALCN; VGCNL1; bA430M15.1", "protein_names_uniprotkb": "Sodium leak channel NALCN; CanIon; Sodium leak channel non-selective protein; Voltage gated channel-like protein 1", "protein_names_refseq": "four repeat voltage-gated ion channel; sodium leak channel NALCN isoform 2; sodium leak channel NALCN; voltage gated channel like 1", "tax_id": 9606, "disease": "congenital limbs-face contractures-hypotonia-developmental delay syndrome (Disease Ontology:DOID:0081048); hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MONDO:MONDO:0024567)", "pathway": " (hsa:259232); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 113, "publication_id_list": "10.1101/2023.09.13.557529;10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12364586;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15592455;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19535918;19575010;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;2298749;23112050;2321095;23616951;23749988;24075186;2536303;25683120;25864427;26359375;26562072;26763878;27214504;28071645;28154142;28790369;29557506;30429286;31409833;32387766;32494638;32698188;33203861;33392160;34019948;34929720;35051231;35387979;35580925;37452996;37615954;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Data show the molecular basis of a muscarinic-activated inward sodium current that is independent of G-protein activation, and provide new insights into the properties of NALCN channels., [RefSeq, PubMed]; Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection., [RefSeq, PubMed]; New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN. Review article, [RefSeq, PubMed]; Structural architecture of the human NALCN channelosome., [RefSeq, PubMed]; Structure of the human sodium leak channel NALCN in complex with FAM155A. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [provided by RefSeq, Apr 2017]., [RefSeq]; UNC80 functions as a scaffold for Src kinases in NALCN channel function., [RefSeq, PubMed]; Voltage-sensing, pore-forming subunit of the NALCN channelosome complex, which regulates the resting membrane potential by depolarizing sodium leak currents (PubMed:17448995, PubMed:32494638, PubMed:33203861, PubMed:35387979, PubMed:34929720). The NALCN channelosome complex is a voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability (PubMed:17448995, PubMed:31409833, PubMed:35387979, PubMed:34929720). The NALCN channelosome is constitutively active and conducts monovalent cations but is blocked by physiological concentrations of extracellular divalent cations (PubMed:32494638). In addition to its role in regulating neuronal excitability, is required for normal respiratory rhythm, systemic osmoregulation by controlling the serum sodium concentration and in the regulation of the intestinal pace-making activity in the interstitial cells of Cajal (By similarity). The NALCN channelosome is also activated by neuropeptides such as neurotensin and substance P (SP) through a SRC family kinases-dependent pathway (By similarity). In addition, NALCN activity is enhanced/modulated by several GPCRs, such as CHRM3 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 24, "reported_glycation": 0, "reported_snv": 96, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6P2S6;Q6ZMI7;Q8IZZ1;Q8TAH1", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005261 monoatomic cation channel activity;GO:0005272 sodium channel activity;GO:0005248 voltage-gated sodium channel activity;GO:0022840 leak channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0034702 monoatomic ion channel complex;GO:0016020 membrane", "go_biological_process": "GO:0032224 positive regulation of synaptic transmission, cholinergic;GO:0032230 positive regulation of synaptic transmission, GABAergic;GO:0034220 monoatomic ion transmembrane transport;GO:0035725 sodium ion transmembrane transport;GO:0070588 calcium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q8IZF0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A4D1B5-1", "uniprot_id": "GSAP_HUMAN", "mass": 97802.0, "length": 854, "protein_name": "Gamma-secretase-activating protein", "gene_name": "GSAP", "organism": "Human", "refseq_name": "gamma-secretase-activating protein isoform a", "refseq_ac": "NP_059135", "gene_names_uniprotkb": "GSAP; PION", "gene_names_refseq": "GSAP; PION", "protein_names_uniprotkb": "Gamma-secretase-activating protein; GSAP; Protein pigeon homolog", "protein_names_refseq": "gamma-secretase-activating protein isoform a; protein pigeon homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:54103)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;20811458;21718343;22681044;23209290;25037285;25418920;26076991;26154972;28218747;28446606;28743126;28832583;29242379;29393594;29437277;29508533;29557506;30429286;32357974;32502341;32938616;32983136;33968037;34156424;35051231;35580925", "class_list": "", "function": "A gamma-secretase activating protein (GSAP) that selectively increases amyloid-beta production via interactions with both gamma-secretase and its substrate, the amyloid precursor protein carboxy-terminal fragment., [RefSeq, PubMed]; Aberrant regulation of gamma-secretase activating protein expression plays a key role in acceleration of gamma-cleavage of beta-secretase-cleaved C-terminal fragment of amyloid precursor protein and accumulation of Abeta in AD brains, [RefSeq, PubMed]; Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010]., [RefSeq]; GSAP cleavage via caspase-3 is regulated and depend upon the availability of 5-Lipoxygenase in Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; GSAP regulates lipid homeostasis and mitochondrial function associated with Alzheimer's disease., [RefSeq, PubMed]; Gamma-secretase activating protein (GSAP) and imatinib have roles in the regulation of gamma-secretase activity and amyloid-beta generation, [RefSeq, PubMed]; Its promoter variant contributes to Alzheimer's disease liability., [RefSeq, PubMed]; Protocols for recombinant bacterial expression and purification of potentially important protein GSAP are not successful in generating soluble forms of GSAP that contain well-ordered and homogeneous tertiary structure., [RefSeq, PubMed]; Regulator of gamma-secretase activity, which specifically activates the production of amyloid-beta protein (amyloid-beta protein 40 and amyloid-beta protein 42), without affecting the cleavage of other gamma-secretase targets such has Notch. The gamma-secretase complex is an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Specifically promotes the gamma-cleavage of APP CTF-alpha (also named APP-CTF) by the gamma-secretase complex to generate amyloid-beta, while it reduces the epsilon-cleavage of APP CTF-alpha, leading to a low production of AICD., [UniProtKB, PubMed]; These data demonstrate that GSAP proteins are differentially dysregulated in severe Alzheimer Disease, but only the full-length form was associated with cognitive test scores in Alzheimer 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": 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": "A4D1B6;Q3MJC0;Q8ND73;Q9UMH3;Q9Y4L9", "ec_number_list": "", "go_molecular_function": "GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005802 trans-Golgi network", "go_biological_process": "GO:1902004 positive regulation of amyloid-beta formation;GO:0030162 regulation of proteolysis", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "A4D1B5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P27986-1", "uniprot_id": "P85A_HUMAN", "mass": 83598.0, "length": 724, "protein_name": "Phosphatidylinositol 3-kinase regulatory subunit alpha", "gene_name": "PIK3R1", "organism": "Human", "refseq_name": "phosphatidylinositol 3-kinase regulatory subunit alpha isoform 4", "refseq_ac": "NP_001229395", "gene_names_uniprotkb": "PIK3R1; GRB1", "gene_names_refseq": "AGM7; GRB1; IMD36; PIK3R1; p85-ALPHA; p85alpha; p85", "protein_names_uniprotkb": "Phosphatidylinositol 3-kinase regulatory subunit alpha; PI3-kinase regulatory subunit alpha; PI3-kinase subunit p85-alpha; PI3K regulatory subunit alpha; Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha; PtdIns-3-kinase regulatory subunit alpha; PtdIns-3-kinase regulatory subunit p85-alpha", "protein_names_refseq": "PI3 kinase-associated p85; PI3-kinase subunit p85-alpha; PI3K regulatory subunit alpha; growth factor receptor bound 1; phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha; phosphatidylinositol 3-kinase regulatory subunit alpha isoform 4; phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha); phosphatidylinositol 3-kinase-associated p-85 alpha; phosphoinositide-3-kinase regulatory subunit alpha; phosphoinositide-3-kinase, regulatory subunit 1 (alpha); ptdIns-3-kinase regulatory subunit alpha", "tax_id": 9606, "disease": "agammaglobulinemia 7 (Disease Ontology:DOID:0081139); SHORT syndrome (Disease Ontology:DOID:0111454); immunodeficiency 36 (Disease Ontology:DOID:0111949); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); endometrial cancer (Disease Ontology:DOID:1380); X-linked agammaglobulinemia (Disease Ontology:DOID:14179); endometrial adenocarcinoma (Disease Ontology:DOID:2870); endometrial carcinoma (Disease Ontology:DOID:2871); lung adenocarcinoma (Disease Ontology:DOID:3910); renal cell carcinoma (Disease Ontology:DOID:4450); lung small cell carcinoma (Disease Ontology:DOID:5409); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); astroblastoma (Disease Ontology:DOID:7305); osteoarthritis (Disease Ontology:DOID:8398); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5295); (R-HSA-109704); (R-HSA-112399); (R-HSA-114604); (R-HSA-1236382); (R-HSA-1250342); (R-HSA-1257604); (R-HSA-1266695); (R-HSA-1433557); (R-HSA-1660499); (R-HSA-180292); (R-HSA-1839117); (R-HSA-186763); (R-HSA-1963642); (R-HSA-198203); (R-HSA-201556); (R-HSA-202424); (R-HSA-2029485); (R-HSA-210993); (R-HSA-2219530); (R-HSA-2424491); (R-HSA-2730905); (R-HSA-373753); (R-HSA-389357); (R-HSA-416476); (R-HSA-430116); (R-HSA-4420097); (R-HSA-512988); (R-HSA-5637810); (R-HSA-5654689); (R-HSA-5654695); (R-HSA-5654710); (R-HSA-5654720); (R-HSA-5655253); (R-HSA-5655291); (R-HSA-5655302); (R-HSA-5655332); (R-HSA-5673001); (R-HSA-6785807); (R-HSA-6811558); (R-HSA-8851907); (R-HSA-8853659); (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-9013408); (R-HSA-9013409); (R-HSA-9013420); (R-HSA-9013423); (R-HSA-9013424); (R-HSA-9027276); (R-HSA-9028335); (R-HSA-9035034); (R-HSA-912526); (R-HSA-912631); (R-HSA-9603381); (R-HSA-9607240); (R-HSA-9664565); (R-HSA-9665348); (R-HSA-9670439); (R-HSA-9673767); (R-HSA-9673770); (R-HSA-9680350); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273); (R-HSA-9703465); (R-HSA-9703648); (R-HSA-9725370); (R-HSA-983695); (R-HSA-9842640); (R-HSA-9842663); (R-HSA-9918485); (R-HSA-9927354)", "pathway_count": 79, "publication_count": 1832, "publication_id_list": "10.1101/2023.09.13.557529;10021361;10023775;10026222;10037681;10037737;10051567;10051622;10068651;10072481;10075701;10080542;10086340;10102273;10191087;10191262;10194437;10194451;10207047;10207622;10216106;10219247;10224048;10224278;10224668;10232922;10319328;10323868;10358045;10369418;10377264;10393930;10395673;10397721;10427092;10432293;10445845;10448070;10455108;10464238;10469124;10469654;10477686;10477722;10480903;10482988;10490598;10498607;10508167;10508235;10508610;10510379;10513815;10521483;10523665;10523675;10523831;10523834;10526156;10528161;10541305;10555148;10556217;10556826;10559246;10559940;10567430;10570274;10579713;10579907;10586089;10587647;10593988;10611248;10618392;10619026;10627461;10648173;10648629;10652257;10652265;10664463;10677529;10679268;10688839;10692392;10698507;10698680;10699171;10699464;10702393;10706082;10706702;10706887;10716940;10722704;10724160;10727532;10734310;10739672;10744696;10744763;10749680;10749889;10753883;10768093;10770799;10783894;10805725;10806474;1081164;10811803;10822173;10847683;10861009;10867011;10867024;10869344;10871282;10873388;10873802;10880360;10884405;10887121;10887137;10913131;10918587;10934142;10935490;10949031;10958683;10967094;10982827;10983984;10995743;10995764;11000521;11001876;11002419;11007481;11015615;11027663;11029009;11029403;11042164;11043579;11044445;11048639;11058569;11058585;11063744;11071869;11084045;11084340;11085924;11087732;11087752;11090077;11094066;11094073;11104795;11110708;11120780;11121404;11136978;11145705;11147812;11149925;11157491;11185956;11191051;11207612;11226282;11237011;11237712;11262396;11278437;11278486;11278720;11278729;11279162;11280786;11290608;11302699;11306516;11310834;11313946;11323411;11328862;11337487;11337495;11340081;11340297;11349134;11353842;11356008;11358993;11360177;11368773;11369651;11369763;11373293;11390647;11390650;11395417;11396949;11404481;11418668;11425868;11429702;11431473;11432776;11447223;11449366;11459829;11463377;11470823;11481033;11491658;11494148;11504915;11520784;11526404;11546808;11562357;11564764;11566266;11567151;11584276;11598010;11604140;11606067;11606584;11606631;11607834;11607835;11672528;11676921;11680691;11689432;11689445;11689693;11689702;11695992;11696015;11696321;11700320;11702783;11704860;11707405;11707441;11728342;11733541;11733557;11739186;11742120;11749377;11751994;11753430;11756552;11773441;11773442;11773443;11784792;11803464;11804587;11804589;11804590;11809791;11825873;11850821;11864571;11877430;11884229;11884391;11886862;11901194;11907067;11909947;11912194;11912491;11919634;11923287;11940653;11943732;11948177;11956649;11960372;11961559;11967128;11969368;11981029;11988758;12009866;12032311;12048194;12062105;12071859;12093360;12094235;12096337;12101241;12112524;12118066;12120503;12121613;12122009;12124177;12134158;12138205;12167717;12172552;12177196;12181444;12184921;12185581;12186904;12192036;12195014;12214271;12215529;12221077;12221096;12223527;12242309;12242343;12244061;12324459;12351724;12359715;12376551;12388769;12391143;12393597;12421825;12422219;12424201;12431978;12432077;12453414;12456653;12456725;12464388;12464619;12468433;12471035;12471105;12473120;12473184;12475982;12481435;12506011;12511554;12511868;12522257;12531887;12536145;12538664;12546821;12547822;12569364;12573241;12577064;12582030;12588983;12600988;12646134;12650940;12660326;12660731;12665586;12668668;12670391;12682107;12682286;12750159;12766170;12767043;12771945;12773384;12800156;12808053;12808147;12810700;12813055;12820653;12824176;12832402;12832405;12842009;12846735;12847086;12857875;12860998;12865409;12869549;12877655;12878163;12881510;12881521;12882960;12889071;12907671;12911816;12920229;12923183;12934099;12944901;12949711;12969963;1314164;1325671;1334462;1371879;1372019;1374290;1374684;1375232;1375264;1375321;1376928;1378832;1381348;1381360;1396555;1396585;1400495;14506234;14506247;14512443;14514672;14514689;14516276;14521508;14534538;14560030;14563642;14570703;14593182;14617813;14633607;14634100;1464587;1465135;14660569;14660670;14665621;14665640;14675773;14695343;14695357;14701753;14707138;14712222;14715624;14718169;14718541;14724572;14729945;14732713;14749497;14764897;14766744;14871245;14962911;14967142;14981546;14984498;15003515;15007255;15007386;15010370;15023524;15026417;15029211;15033483;15033976;15034873;15039213;15044318;15044950;15050920;15059917;15064355;15077177;15080793;15090535;15098107;15104674;15107133;15107860;15116091;15118073;15118125;15122200;15125833;15133129;15135396;15143187;15145317;15147912;15149544;15157669;15161916;15169778;15169870;15178581;15184383;15187135;15208656;15221957;15226403;15231819;15231873;15247219;15256420;15260990;15261459;15284455;15286081;15294978;15302586;15302923;15304341;15308621;15308668;15314172;15317731;15329413;15331416;15339924;15342493;15350535;15353558;15356145;15365099;15371334;15374880;15448205;1545823;15464023;15467163;15485661;15488758;15496458;15498859;1550550;15507211;15507651;15509800;15526160;15536084;15541657;15542837;15545998;15546878;15556869;15561106;15569713;15569929;15574420;15579468;15579503;15584925;15588951;15592455;15598814;15601624;15609342;15611138;15634346;15644415;15657067;15688067;15695828;15705661;15708849;15710388;15716355;15718470;15728722;15738000;15749844;15790786;15797027;15800673;15805299;15809313;15814684;15834429;15838506;15840652;15843475;15850391;15858067;15863030;15866170;15869882;15870016;15893672;15895073;15897194;15928335;15938644;15944396;15950906;15951850;15956360;15962004;15994232;1599430;16002401;16007214;16024644;16048438;16056267;16081809;16091734;16102041;16107692;16112081;16116428;16129412;16153436;16153455;16154996;16161041;16170336;16174766;16182515;16184169;16187797;16188233;16205632;16217026;16236134;16239258;16243035;16243036;16266983;16268778;16274718;16317043;16336962;16339170;16339315;16339447;16356853;16356855;16397018;16397263;16399794;16410449;16451196;16456001;16456541;16467200;16467373;16473593;16476736;16481321;16483568;16492808;16497229;16497976;16507994;16510571;16519628;16522682;16525419;16540365;16543952;1660188;16606674;16612002;16627759;16630611;16630808;16636067;16636149;16645038;16647110;16678913;16684964;16702231;16707477;16714282;16737840;16754659;16760434;16761019;16762923;16776779;16777452;16777603;16777849;16825495;16835357;16843263;16844695;16847462;16849466;16849543;16862148;16871283;16873377;16878150;1689311;16895971;16896804;16906149;16908864;16914516;16914545;16917499;16923326;16938345;16939498;16946300;16953218;16966330;16968698;16969069;16978534;16979564;16990784;17008356;17016520;1702217;17027967;1702903;17030947;17037979;17038317;17043656;17047224;1705565;17060455;17064668;17072321;17077126;17081983;17086210;17135271;17145773;17158234;1716764;17177598;17185414;17196961;17198702;17199126;17200115;17202354;17214551;1721591;17224452;17237347;17244649;17245604;17254966;17255936;17268528;17269730;17274988;17293873;17311002;17344430;17349580;17353907;17355222;17363905;17372273;17389395;17416736;17424910;17427945;17452328;17452978;17458857;17468049;17483340;17486119;17496917;17504809;17505008;17525128;17533378;17535799;17546049;17548359;17562871;17572495;17583407;17590538;17599059;17616532;17625570;17626883;17646646;17651088;17652160;17662946;17681947;17686471;17698633;17698854;17699773;17702745;17712310;17728323;17764812;17765681;17804252;17893108;17916560;17916740;17921256;17923684;17932950;17942708;17976533;17991742;17993265;17998941;18006505;18006696;18025150;18033240;18039657;18045877;18052078;18056264;18068628;18070884;18079394;18083107;18093523;18097461;18158243;18187424;18191593;18192505;18205209;18206197;18218625;18243101;18245521;18249095;18266465;18317450;18326500;1833064;1833065;18337450;18347018;18348712;18353781;18363964;18373495;18374639;18381441;18391968;18396277;18412956;18413839;18420269;18426980;18434541;18439422;18447642;18452557;18467591;18483393;1849461;18515384;18552176;18577758;18589439;18593892;18594010;18594509;18596693;18606717;18644974;18653540;18657504;18662984;18691974;18692472;18697750;18697831;18701132;18721752;18724359;1874735;18753295;18754654;18755892;18757403;18757432;18775330;18786931;18787071;18802007;18818202;18829452;18829560;18835169;18838382;18843204;18849880;18923523;18923524;18923525;18925875;18929667;18936096;18955485;1898771;18990089;18995841;18996843;19038970;1905813;19064640;19064725;19103595;19103606;19109239;19124156;19136556;19138696;19147536;19185485;19185846;19206206;19230644;19233141;19249086;19265199;19267251;19269969;19279408;19286672;19345670;19369195;19369959;19372136;19381019;1939645;19397496;19409513;19411071;19438505;19443634;19456272;19459784;19477218;19494238;19534724;19560417;19576174;19581409;19592646;19605563;19635168;19644473;19665053;19673492;19700402;19713215;19749790;19802003;19805105;19807924;19809159;19815557;19850008;19864382;19874848;19879889;19881549;19896968;19919182;19920141;19934221;19946327;19962665;20030946;20033049;20068231;20094046;20101212;2010539;2011584;20179196;20192804;20226962;20231295;20233749;20233848;20304997;20338997;20348923;20400958;20439495;20454865;20460433;20478380;20484116;20489731;20493732;20522708;20534812;20547754;20548102;20591975;20628200;20632993;20650261;2065657;20658524;20660154;20679435;20709759;20713702;20719933;20810653;20811643;20861220;20889717;20927104;20966921;21049007;21072051;21102457;21102635;21105711;21119010;21134980;21148482;21151158;21154129;21160078;21164297;21188471;21200133;21204784;21213368;21228233;21252155;21262971;21317208;21330321;21345110;21351730;21368164;21372320;21373644;21378159;21389326;21408196;21415216;21445309;21454492;21469132;21478295;21494621;21508312;21542010;21565175;21576392;21596819;21613211;21621533;21653832;21656749;21659545;21666749;21668414;21680538;21685891;21689689;21699497;21705501;21711248;21730051;21730069;21757538;21779497;21779505;21822214;21825134;21827948;21838707;21847362;21851428;21865595;21936715;21937440;21954290;2196173;21976531;21984976;21989057;21993244;21994466;22004470;22028449;22031296;22037487;22046235;22046346;22089421;22096251;22120714;22153499;22162641;22180443;22188813;22205702;22210847;22249260;22266855;22267732;22286764;22298643;22305756;22327215;22327622;22339630;22342344;22347464;22347506;22351933;22383755;22407364;22424782;22438257;22439933;22446104;22461490;22464331;22475431;22483114;22544926;22569528;22570254;22571869;22588880;22589270;22608513;22647598;22658521;22665057;22673745;22689825;22693070;22734669;22750304;22790947;22802530;22837387;22851691;22908275;22911862;22970203;22971344;22992742;23029280;2303036;2304550;23073628;23084921;23086340;23087206;23096567;23103841;23104988;23124025;23139213;23168613;23172665;23175443;2317865;23186163;23192871;23200924;23201355;23209303;23216836;23220880;23239810;23246379;23255595;23270540;23288169;23298836;23303910;23406282;23434736;23443682;23455323;23519112;23555662;23558953;23572525;23575685;23658209;23661334;23669310;23676467;23707487;23718289;2374928;23752188;23757206;23758345;23783831;23810378;23810379;23810382;23843458;23870057;23870313;23889739;23940355;23948973;23957430;23967200;23970477;24039841;24060861;24074594;24086303;24097101;24102721;24128008;24259668;24335996;24352656;24356251;24417533;24445538;24475247;24496003;24518094;24530924;24584464;24588013;24613930;24623723;24659802;2466336;24670165;24687822;24690281;24715725;2472219;24736079;24736082;24743777;24854988;24859002;24890514;24897931;24933155;24937142;24947326;24960694;24996924;25024229;25114970;25133428;25211221;25219551;25234944;25239608;25331893;25342631;25393796;25421750;25425145;25428919;25467007;25495341;2555171;25572173;25587652;25668492;25673874;25704760;25721503;25746724;25781681;25795300;25813404;25853726;25862245;25880691;25888806;25921060;25963737;25994018;26001147;26016997;26029847;26056282;26062823;26085527;26129894;26154972;26212330;26235028;26299518;26301565;26301689;26308771;26371245;26375550;26418745;26464158;26468529;26529257;26545934;26598554;26598620;26628301;26630010;26708155;26716518;2681215;26887924;26891877;26895103;26969432;26974155;26992070;27096001;27109099;27117132;27145964;27170215;27216196;27245569;27256702;27278019;27288742;27423467;27478041;27481945;27536065;27555588;27566826;27573755;27600516;27666490;27708159;27713499;27780853;27795560;27798618;27806292;27832191;27852748;27862975;27874193;27986909;28028030;28028151;28112683;28114311;28192400;28196833;28218747;28271164;28274957;2833705;28351781;28356423;28403213;28404650;2841328;28467828;28486133;28522571;28539435;28576946;28584191;28659337;28736554;28741662;28751768;28778966;28825699;28832583;28851395;28860633;28903391;28904123;28923937;28947137;28955049;29025582;29089502;29139090;29146911;29242379;29309929;29331515;29358323;29380702;29382922;29393594;29408302;29437277;29455642;29493099;29507660;29557506;29610346;29704617;29738483;29742433;29776664;29786170;29873274;29880609;29964125;29967253;30061385;30061681;30131584;30301790;30314968;30315122;30332834;30370255;30389923;30410026;30429286;30523347;30550886;30559310;30651634;30692217;30792533;30853411;30854046;3086311;31066629;31085175;31105010;31135801;31217245;31359998;31366041;31389670;3155520;31585938;31720911;31844290;31871319;31918398;32157095;32203420;32302585;32350084;32357974;32387766;32488085;32502341;32606397;32737221;32897882;32938616;33298915;33392160;33592498;33691108;33717175;33912179;33968037;34211107;34509645;34561969;34646012;34819663;34819673;34932366;3500860;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37938771;38388383;38630589;3872140;38744342;40914422;4589993;6148751;6335036;7476457;7478529;7479768;7479848;7489741;7506952;7509446;7509796;7510216;7512369;7512451;7513165;7514277;7517401;7517665;7518429;7523381;7524079;7526158;7526779;7528218;7529288;7535773;7536744;7537740;7537849;7538118;7541045;7543144;7559638;7568038;7592958;7597091;7608176;7624799;7637810;7651724;7665556;7673236;7680037;7681364;7681396;7685273;7687428;7687539;7688784;7691807;7691811;7692233;7719938;7721814;7737969;7744773;7750475;7753201;7795521;7796300;7809086;7824924;7835339;7898939;7907877;7927516;7935391;7935463;7935795;7937899;7954816;7972015;8007942;8021274;8034572;803528;8036006;8052307;8084588;8085155;8086421;8107774;8128231;8145851;8163536;8228618;8246984;8266077;8276809;8294403;8306975;8313897;8355686;8385099;8388543;8394845;8443409;8479541;8483502;8493579;8530489;8537347;8543060;8550590;8571126;8599763;8601309;8602263;8611693;8617235;8617742;8617750;8621607;8621622;8626543;8628282;8628286;8631758;8631863;8633037;8636116;8637703;8643598;8645157;8647802;8647804;8647855;8648629;8649376;8649427;8649859;8657103;8657148;8657151;8662891;8662982;8663118;8663278;8663426;8664309;8665852;8668165;8670801;8670861;8673706;8674117;8681945;8695790;8702662;8702919;8709637;8710374;8723348;8756646;8769096;8769125;8774734;8782602;8797861;8798539;8805223;8807639;8810315;8816443;8816495;8876252;8906793;8939933;8939998;8940081;8943348;8945468;8947042;8947047;8950973;8961927;8962058;8980223;8981370;8986718;8990121;8994827;8995358;9013646;9013879;9028946;9030599;9032108;9038210;9045650;9045692;9047384;9094719;9099679;9099726;9108392;9108479;9111050;9111318;9113980;9113989;9162089;9173876;9178760;9182576;9182757;9192684;9200440;9211928;9223670;9225065;9233603;9235916;9252186;9252344;9256427;9259313;9268338;9286278;9295334;9299438;9299490;9305846;9305890;9326643;9334184;9341187;9355737;9356464;9362451;9367159;9382888;9393975;9395517;9396765;9398404;9398617;9405671;9407096;9418861;9422786;9425086;9425908;9428629;9438848;9438849;9438854;9446650;9461588;9472046;9484840;9488729;9489702;9490415;9490638;9491986;9497316;9514948;9516481;9524259;9525940;9531558;9535835;9546424;9548756;9553136;9553137;9565625;9576949;9582072;9590251;9593664;9604935;9616126;9632781;9632797;9651359;9659915;9660759;9660833;9670022;9685210;9687533;9690470;9697839;9705280;9705962;9715265;9716603;9723655;9736340;9736715;9737679;9739761;9764818;9764820;9766809;9768361;9770463;9778532;9788619;9792683;9799234;9811831;9819383;9822598;9822605;9822675;9829970;9830044;9830063;9843499;9846874;9857065;9872323;9874564;9883723;9885561;9890893;9895304;9918857;9927426;9931503;9949182;9973503;9988689;9990853", "class_list": "", "function": "A p85 isoform switch enhances PI3K activation on endosomes by a MAP4- and PI3P-dependent mechanism., [RefSeq, PubMed]; Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signaling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signaling (PubMed:17626883, PubMed:19805105, PubMed:7518429). Modulates the cellular response to ER stress by promoting nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (PubMed:20348923)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Clinicopathological analysis of rosette-forming glioneuronal tumors. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Lnc-PIK3R1, transcriptionally suppressed by YY1, inhibits hepatocellular carcinoma progression via the Lnc-PIK3R1/miR-1286/GSK3beta axis., [RefSeq, PubMed]; Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 76, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 21, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KT19;D3DWA0;E7EX19;Q15747;Q4VBZ7;Q53EM6;Q8IXA2;Q8N1C5", "ec_number_list": "", "go_molecular_function": "GO:0019209 kinase activator activity;GO:0001784 phosphotyrosine residue binding;GO:0005096 GTPase activator activity;GO:0005158 insulin receptor binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0033120 positive regulation of RNA splicing;GO:0006955 immune response;GO:0015031 protein transport;GO:0032869 cellular response to insulin stimulus", "synthesized_glycan_count": 0, "hit_score": 183.7, "record_id": "P27986-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01137-1", "uniprot_id": "TGFB1_HUMAN", "mass": 44325.0, "length": 390, "protein_name": "Transforming growth factor beta-1 proprotein", "gene_name": "TGFB1", "organism": "Human", "refseq_name": "transforming growth factor beta-1 proprotein preproprotein", "refseq_ac": "NP_000651", "gene_names_uniprotkb": "TGFB1; TGFB", "gene_names_refseq": "CAEND1; CED; DPD1; IBDIMDE; LAP; TGF-beta1; TGFB1; TGFB; TGFbeta", "protein_names_uniprotkb": "Transforming growth factor beta-1 proprotein", "protein_names_refseq": "TGF-beta-1; latency-associated peptide; prepro-transforming growth factor beta-1; transforming growth factor beta-1 proprotein preproprotein; transforming growth factor beta-1 proprotein; transforming growth factor beta1", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); chorioamnionitis (Disease Ontology:DOID:0050697); atrial fibrillation (Disease Ontology:DOID:0060224); Camurati-Engelmann disease 1 (Disease Ontology:DOID:0061229); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); traumatic brain injury (Disease Ontology:DOID:0081292); prostate cancer (Disease Ontology:DOID:10283); berylliosis (Disease Ontology:DOID:10322); hypertension (Disease Ontology:DOID:10763); sickle cell anemia (Disease Ontology:DOID:10923); anogenital venereal wart (Disease Ontology:DOID:11168); chlamydia (Disease Ontology:DOID:11263); heart disease (Disease Ontology:DOID:114); osteoporosis (Disease Ontology:DOID:11476); familial hyperlipidemia (Disease Ontology:DOID:1168); factor VIII deficiency (Disease Ontology:DOID:12134); vitiligo (Disease Ontology:DOID:12306); aplastic anemia (Disease Ontology:DOID:12449); urethral obstruction (Disease Ontology:DOID:12577); hereditary hemorrhagic telangiectasia (Disease Ontology:DOID:1270); Sjogren's syndrome (Disease Ontology:DOID:12894); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); Ehlers-Danlos syndrome (Disease Ontology:DOID:13359); pulmonary sarcoidosis (Disease Ontology:DOID:13406); biliary atresia (Disease Ontology:DOID:13608); eosinophilic esophagitis (Disease Ontology:DOID:13922); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); cystic fibrosis (Disease Ontology:DOID:1485); colon carcinoma (Disease Ontology:DOID:1520); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); impotence (Disease Ontology:DOID:1875); colon cancer (Disease Ontology:DOID:219); osteochondrodysplasia (Disease Ontology:DOID:2256); brain ischemia (Disease Ontology:DOID:2316); colon adenocarcinoma (Disease Ontology:DOID:234); arteriosclerosis (Disease Ontology:DOID:2349); asthma (Disease Ontology:DOID:2841); severe acute respiratory syndrome (Disease Ontology:DOID:2945); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); tracheal stenosis (Disease Ontology:DOID:3227); atopic dermatitis (Disease Ontology:DOID:3310); carotid artery disease (Disease Ontology:DOID:3407); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); middle cerebral artery infarction (Disease Ontology:DOID:3525); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); pulmonary fibrosis (Disease Ontology:DOID:3770); insulinoma (Disease Ontology:DOID:3892); renal cell carcinoma (Disease Ontology:DOID:4450); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); cholangiocarcinoma (Disease Ontology:DOID:4947); myelofibrosis (Disease Ontology:DOID:4971); Camurati-Engelmann disease (Disease Ontology:DOID:4997); liver cirrhosis (Disease Ontology:DOID:5082); pneumonia (Disease Ontology:DOID:552); proteinuria (Disease Ontology:DOID:576); oral submucous fibrosis (Disease Ontology:DOID:5773); myocardial infarction (Disease Ontology:DOID:5844); nephrolithiasis (Disease Ontology:DOID:585); pulmonary hypertension (Disease Ontology:DOID:6432); end stage renal disease (Disease Ontology:DOID:783); localized scleroderma (Disease Ontology:DOID:8472); lung disease (Disease Ontology:DOID:850); chronic myeloid leukemia (Disease Ontology:DOID:8552); actinic keratosis (Disease Ontology:DOID:8866); psoriasis (Disease Ontology:DOID:8893); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); colorectal cancer (Disease Ontology:DOID:9256); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); aphthous stomatitis (Disease Ontology:DOID:9663); pulmonary emphysema (Disease Ontology:DOID:9675); diabetic neuropathy (Disease Ontology:DOID:9743); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); inflammatory bowel disease, immunodeficiency, and encephalopathy (MONDO:MONDO:0032601)", "pathway": " (hsa:7040); (R-HSA-114608); (R-HSA-168277); (R-HSA-202733); (R-HSA-2129379); (R-HSA-2173788); (R-HSA-2173789); (R-HSA-2173791); (R-HSA-3000170); (R-HSA-3000178); (R-HSA-3304356); (R-HSA-3642279); (R-HSA-3645790); (R-HSA-3656532); (R-HSA-3656535); (R-HSA-381340); (R-HSA-5689603); (R-HSA-6785807); (R-HSA-8941855); (R-HSA-8941858); (R-HSA-8951936); (R-HSA-9839389)", "pathway_count": 22, "publication_count": 409, "publication_id_list": "37268159;10.1101/2023.09.13.557529;10022829;10023775;10025398;10075656;10219247;10339611;10369418;10424889;10425206;10510379;10519551;10531362;10544250;10586089;10606205;10646116;10673326;10757800;10764623;10789724;10867011;10877843;10930463;10973241;11058569;11062463;11084045;11084047;11095972;11100470;11104795;11120780;11141505;11158580;11163210;11207550;11237011;11256994;11259413;11278251;11278437;11278729;11323414;11356008;11390472;11404481;11447115;11463377;11564780;11586295;11746498;11779189;11812992;11872672;11960372;11970960;12070135;12091906;12151385;12202987;12208882;12213831;12223527;12225811;12242343;12358597;12415008;12429738;12469115;12482908;12493741;12519765;12600988;12782713;12829629;12832402;12843182;12953056;12958365;12975610;1310899;1333888;1376317;1400330;1435334;1448117;14529530;14615387;14630798;14634100;14657501;14681059;14701737;14701756;14712222;14715956;14718519;14976204;15000751;15075323;15103729;15116091;15138260;15163724;15261459;15273253;15296743;15297306;15350224;1544908;15479743;15496141;15528364;15564041;15584925;15681301;15721307;15761148;15781469;15805299;15850785;15869882;1591491;15919796;15950906;16007214;16027725;16048438;16061177;16061631;16107692;16135801;16140942;16205632;16236134;16258728;16263699;16293224;16297198;16335952;16380219;16397018;16451196;16493581;16510571;16540365;16585556;16606674;16691243;16737840;16754747;16783819;16906146;16945929;17011499;17064312;1708799;17099249;17116209;17139257;17167768;17172599;17314405;17322099;17324935;17379836;17427945;17442946;17452516;17458857;17505016;17525755;17563375;17572495;17580308;17588949;17600130;17615384;17625065;17827158;17980149;18184661;18243101;18339631;18353781;18447642;18469808;18497827;18644974;18931025;19043829;19115207;19124156;19172745;19185846;19188440;19279206;19397496;19651619;19720988;19750484;19758997;19808967;19815555;20061380;20100835;20101261;20129061;20207738;2022183;20353948;20436459;20493732;2059554;20599712;20599762;20625381;20805357;20937913;21102457;21193412;21252155;21258369;21358634;21642437;21646718;21659548;21689689;21730069;21789315;21937440;21994466;22045334;22046235;22134916;22205702;22278742;22344298;22383755;22693070;22851691;23086340;23090970;23124025;23139211;23172665;23239344;23290524;23333304;23455323;23525077;23555662;23640497;2364322;23945545;23967200;24043627;24097101;2412224;24190977;2420006;24229708;2430969;24743777;24764293;2493139;25209176;25234944;2530630;25310401;2538457;25535343;25892735;25893292;27252363;27339457;27389696;28117447;28228285;28832583;29109152;29242379;29393594;29483653;2963012;29632046;29741879;29769354;2982829;29909984;30315122;30696809;3162913;33043033;33298915;34078123;3470709;36215666;36284347;37074911;3861940;38665916;39299505;468991;6193777;6439184;6457647;7499434;7500359;7503942;7509040;7510216;7512451;7521878;7527058;7529288;7534784;7542669;7559467;7665626;7685013;7693660;7693733;7737999;7761852;7795521;7796300;7823948;7852349;7898939;7907877;8002934;8047140;8072530;8085155;8145827;8163559;8166770;8242743;8252616;8261515;8314844;8325954;8424942;8424943;8440685;8467233;8471846;8484121;8602263;8609172;8617200;8621622;8643605;8663118;8668165;8679613;8706692;8770873;8797861;8798654;8816495;8939931;8943283;8947046;8970730;8980228;9013879;9052782;9065481;9115237;9150447;9169774;9215638;9233797;9242610;9252349;9294172;9295288;9311995;9335507;9341124;9346959;9346966;9354786;9382878;9454824;9528852;9651359;9679059;9685393;9693095;9723655;9725916;9736340;9763524;9783545;9790970;9822675;9836620;9856985;9865696;9874564;9895299;9927040;9934696;9949188", "class_list": "", "function": "Connexin 43 controls metastatic behavior in triple negative breast cancer through TGFbeta1-Smad3-intergin alphaV signaling axis Based on optical image diagnosis., [RefSeq, PubMed]; Multifunctional protein that regulates the growth and differentiation of various cell types and is involved in various processes, such as normal development, immune function, microglia function and responses to neurodegeneration (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains remain non-covalently linked rendering TGF-beta-1 inactive during storage in extracellular matrix (PubMed:29109152). At the same time, LAP chain interacts with 'milieu molecules', such as LTBP1, LRRC32/GARP and LRRC33/NRROS that control activation of TGF-beta-1 and maintain it in a latent state during storage in extracellular milieus (PubMed:19651619, PubMed:19750484, PubMed:2022183, PubMed:22278742, PubMed:8617200, PubMed:8939931). TGF-beta-1 is released from LAP by integrins (ITGAV:ITGB6 or ITGAV:ITGB8): integrin-binding to LAP stabilizes an alternative conformation of the LAP bowtie tail and results in distortion of the LAP chain and subsequent release of the active TGF-beta-1 (PubMed:22278742, PubMed:28117447). Once activated following release of LAP, TGF-beta-1 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (PubMed:20207738). While expressed by many cells types, TGF-beta-1 only has a very localized range of action within cell environment thanks to fine regulation of its activation by Latency-associated peptide chain (LAP) and 'milieu molecules' (By similarity). Plays an important role in bone remodeling: acts as a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts (By similarity). Can promote either T-helper 17 cells (Th17) or regulatory T-cells (Treg) lineage differentiation in a concentration-dependent manner (By similarity). At high concentrations, leads to FOXP3-mediated suppression of RORC and down-regulation of IL-17 expression, favoring Treg cell development (By similarity). At low concentrations in concert with IL-6 and IL-21, leads to expression of the IL-17 and IL-23 receptors, favoring differentiation to Th17 cells (By similarity). Stimulates sustained production of collagen through the activation of CREB3L1 by regulated intramembrane proteolysis (RIP) (PubMed:25310401). Mediates SMAD2/3 activation by inducing its phosphorylation and subsequent translocation to the nucleus (PubMed:25893292, PubMed:29483653, PubMed:30696809). Positively regulates odontoblastic differentiation in dental papilla cells, via promotion of IPO7-mediated translocation of phosphorylated SMAD2 to the nucleus and subsequent transcription of target genes (By similarity). Can induce epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types (PubMed:25893292, PubMed:30696809)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Required to maintain the Transforming growth factor beta-1 (TGF-beta-1) chain in a latent state during storage in extracellular matrix. Associates non-covalently with TGF-beta-1 and regulates its activation via interaction with 'milieu molecules', such as LTBP1, LRRC32/GARP and LRRC33/NRROS, that control activation of TGF-beta-1. Interaction with LRRC33/NRROS regulates activation of TGF-beta-1 in macrophages and microglia. Interaction with LRRC32/GARP controls activation of TGF-beta-1 on the surface of activated regulatory T-cells (Tregs). Interaction with integrins (ITGAV:ITGB6 or ITGAV:ITGB8) results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-1., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]., [RefSeq]; Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 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": 5, "reported_phosphosites": 0, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 17, "disease_count": 81, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K792;Q9UCG4", "ec_number_list": "", "go_molecular_function": "GO:0034714 type III transforming growth factor beta receptor binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005796 Golgi lumen", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0016202 regulation of striated muscle tissue development;GO:0010742 macrophage derived foam cell differentiation;GO:0060364 frontal suture morphogenesis;GO:0032700 negative regulation of interleukin-17 production", "synthesized_glycan_count": 0, "hit_score": 43.1, "record_id": "P01137-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19174-1", "uniprot_id": "PLCG1_HUMAN", "mass": 148532.0, "length": 1290, "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1", "gene_name": "PLCG1", "organism": "Human", "refseq_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform a", "refseq_ac": "NP_002651", "gene_names_uniprotkb": "PLCG1; PLC1", "gene_names_refseq": "IDAA; NCKAP3; PLC-II; PLC148; PLC1; PLCG1; PLCgamma1", "protein_names_uniprotkb": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1; 3.1.4.11; PLC-148; PLC-II; PLC-gamma-1; Phosphoinositide phospholipase C-gamma-1; Phospholipase C-II; Phospholipase C-gamma-1", "protein_names_refseq": "1-phosphatidyl-D-myo-inositol-4,5-bisphosphate; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform a; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1; PLC-148; PLC-gamma-1; inositoltrisphosphohydrolase; monophosphatidylinositol phosphodiesterase; phosphatidylinositol phospholipase C; phosphoinositidase C; phosphoinositide phospholipase C-gamma-1; phosphoinositide phospholipase C; phospholipase C, gamma 1 (formerly subtype 148); phospholipase C-148; phospholipase C-II; triphosphoinositide phosphodiesterase", "tax_id": 9606, "disease": "familial adenomatous polyposis (Disease Ontology:DOID:0050424); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); Alzheimer's disease (Disease Ontology:DOID:10652); breast cancer (Disease Ontology:DOID:1612); colon cancer (Disease Ontology:DOID:219); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); breast carcinoma (Disease Ontology:DOID:3459); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); acute myocardial infarction (Disease Ontology:DOID:9408); immune dysregulation, autoimmunity, and autoinflammation (MONDO:MONDO:0957790)", "pathway": " (hsa:5335); (R-HSA-1169408); (R-HSA-1236382); (R-HSA-1251932); (R-HSA-1489509); (R-HSA-167021); (R-HSA-1855204); (R-HSA-186763); (R-HSA-201556); (R-HSA-202433); (R-HSA-2029485); (R-HSA-210990); (R-HSA-212718); (R-HSA-2424491); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-418890); (R-HSA-5218921); (R-HSA-5637810); (R-HSA-5654219); (R-HSA-5654221); (R-HSA-5654227); (R-HSA-5654228); (R-HSA-5655253); (R-HSA-5655291); (R-HSA-5655302); (R-HSA-5655332); (R-HSA-8853659); (R-HSA-9026527); (R-HSA-9027277); (R-HSA-9034793); (R-HSA-9664323); (R-HSA-9664565); (R-HSA-9665348); (R-HSA-9665686); (R-HSA-9725370)", "pathway_count": 36, "publication_count": 667, "publication_id_list": "10021361;10026222;10072481;10102632;10216106;10224278;10224668;10350061;10395673;10421574;10425179;10448070;10473558;10488157;10508235;10523831;10556217;10579907;10593988;10648629;10652257;10671560;10702393;10706082;10706887;10744696;10747096;10747847;10802064;10811803;10858437;10860980;10861086;10866302;10873601;10918587;10934142;10995764;11000521;11002419;11007481;11015619;11022047;11022048;11030334;11042108;11048639;11087732;11094073;11095724;11110708;11112487;11118617;11121404;11157491;11157743;11237011;11237712;11259588;11278486;11278720;11280786;11306453;11310834;11340169;11360177;11368773;11387210;11390647;11390650;11395409;11425868;11429702;11470823;11491658;11504915;11518702;11564877;11600407;11607830;11607835;11689702;11739186;11749377;11751994;11752630;11788588;11804587;11850821;11886862;11907067;11909533;11943732;11988758;12112524;12117970;12122009;12185581;12223481;12242309;12391145;12417718;12424201;12471035;12471105;12525615;12573241;12582176;12601080;12660731;12670394;12747803;12750159;12771945;12776187;12800156;12840507;12869549;12911816;12913111;12920229;12934099;12944901;12975316;1314164;1333955;1370476;1372004;1374684;1375321;1396585;14510693;14532121;14534538;14563642;14568990;14715624;14718169;14766744;14871245;14962911;15029211;15037625;15044950;15050920;15077177;15102829;15118073;15118125;15131269;15140260;15144186;15161916;15169778;15184383;15208656;15215251;15226403;15270728;15284455;15286081;15294978;15316017;15317731;15329413;15365099;15374880;15448205;15474001;15485925;15488758;15526160;15536084;15548136;15569713;15579586;15588951;15592455;15598814;15623534;15644415;15702972;15702989;15764700;15790568;15809313;15863030;15879121;15879134;15895073;15938644;15951569;15972651;16009940;16024644;16038803;16081816;16091734;16107206;16112642;16122702;16139798;16153436;16153455;16161041;16170336;16187797;16317043;16352599;16407192;16428300;1644792;16467200;16467851;16497229;16497976;16525023;1656221;16678913;16699525;16715065;1672440;16775314;16777603;16815975;16825495;16843263;16844695;16849543;16861033;16871283;16872604;16878150;1689310;1689311;16914094;16921024;16938345;16939498;16953218;16969069;17016520;17086210;17116690;17148460;17177598;17185414;1718960;17220479;17229814;17274988;17289916;17311002;17349580;17353907;17372273;17376915;17389395;17416736;17420479;17483340;17494698;17502104;17505008;17540168;17561374;17561467;17590538;17620338;17625570;17646646;17652306;17681947;17698633;17699773;17712310;18039657;18070884;18070890;18077418;18083107;18097461;18287095;18296442;18305167;18337450;18373495;18381441;18412956;18413839;18452557;18552176;18583345;18593892;18594010;18669648;18691974;18701132;18707149;18724359;18757403;18757432;18818202;18923523;18923524;18923525;18990089;19073728;19103595;19124833;19125153;19147536;19179337;19270716;19286672;19381019;19413330;19456272;19459784;19560417;19574218;19592646;19651622;19664994;19690332;19749790;19809159;19901323;19909365;19946327;20033049;20068231;20094046;20133869;20179196;20219937;20308324;20385878;20454865;20484116;20494825;20632993;20709759;20719933;20807769;20966921;21037092;21134980;21154129;21160078;21164297;21213368;21345110;21415216;21494621;2153914;21596819;21656749;21659545;21666749;2167438;21711248;21760611;21765395;21838707;21847362;22046346;22162641;22249260;22286764;22327622;22347464;22439933;22561606;22570254;22649724;22658521;22665519;22745786;22837387;22847294;22908275;23028325;23059825;23063561;23104988;23139213;23175443;23186163;23201355;23220880;23239810;23298836;23481700;23558953;23613900;23629676;23661334;23675550;2374928;23843458;23889739;23948973;23957430;24060861;24066087;24205378;24356251;24366607;24445538;24475247;24496003;24518094;24588013;24613930;2466336;24670165;24714562;24715725;2472219;24736079;24736082;24947326;24971884;25140833;25252913;25331893;25342631;25393796;25418920;25421750;25467007;2550068;25576301;25645385;25717186;25734483;25813404;25853726;25870599;25892735;25916191;25921060;25994018;26001147;26062823;26154972;26295810;26301689;26375550;26375851;26418745;26464158;26545934;26630010;26708155;26758079;26992070;27245569;27397612;27573755;27600516;27764189;27780853;27846572;27874193;27920218;27995987;28218747;28228285;28274957;28404650;2841328;28467828;28514659;28659337;28741662;28798148;28832583;28834231;28882164;28904123;28978037;29066806;29242379;29314611;29351928;29380702;29393594;29437277;29455642;29493099;29508533;29557506;29743977;29769354;29873274;29946469;29964125;29967253;29972810;30061385;30131584;30301790;30314968;30315122;30410026;30429286;30449325;30484775;30573663;30692217;30779550;30854046;30873169;31154438;31217245;31222486;31366041;31530632;31585938;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34646012;34725712;34819673;35051231;35367415;35561310;35580925;36010968;36153805;36215666;36241641;36442790;37422272;37651195;37938771;7517665;7518429;7518558;7522622;7530449;7535773;7559393;7565724;7665556;7681365;7682059;7685273;7691811;7692233;7721860;7761412;7824924;7855889;7890667;7935391;7997270;8034732;8036006;8226994;8228618;8340414;8388543;8407970;8443409;8454637;8493579;8530101;8530489;8628282;8629002;8630736;8631863;8631904;8633037;8637703;8647855;8657103;8657151;8662638;8662982;8663278;8663426;8673706;8674117;8702662;8723348;8769125;8798379;8799126;8824201;8862523;8885868;8940074;8940081;8986718;8995445;9000504;9038210;9042338;9047384;9050880;9054388;9099726;9108479;9115214;9162098;9176240;9178760;9192684;9199344;9218480;9252369;9299438;9314552;9360711;9396765;9407096;9430698;9484840;9488729;9489702;9490415;9491986;9525617;9546424;9593664;9639556;9690470;9716455;9739761;9764818;9774457;9819383;9830044;9846482;9857065;9857068;9883723;9889098;9973503;9989831", "class_list": "", "function": "A frequent PLCgamma1 mutation in adult T-cell leukemia/lymphoma determines functional properties of the malignant cells., [RefSeq, PubMed]; A gain-of-function variation in PLCG1 causes a new immune dysregulation disease., [RefSeq, PubMed]; Endothelial VEGFR2-PLCgamma signaling regulates vascular permeability and antitumor immunity through eNOS/Src. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of phospholipase Cgamma1 suppresses hepatocellular carcinogenesis through blockade of STAT3-mediated cancer development., [RefSeq, PubMed]; Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades. Becomes activated in response to ligand-mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, EGFR, FGFR1, FGFR2, FGFR3 and FGFR4 (By similarity). Plays a role in actin reorganization and cell migration (PubMed:17229814). Guanine nucleotide exchange factor that binds the GTPase DNM1 and catalyzes the dissociation of GDP, allowing a GTP molecule to bind in its place, therefore enhancing DNM1-dependent endocytosis (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; PLC-gamma1 and PLC-gamma2 both regulate the functions of ITAM-containing receptors, whereas only PLC-gamma2 regulates the function of DAP10-coupled receptors., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 38, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7ZLY7;B9EGH4;E1P5W4;Q2V575", "ec_number_list": "2.3.2.23;2.3.2.27;2.7.10.2;3.1.4.11;3.6.4.13;2.7.10.1;3.6.4.10;2.7.11.1;2.7.11.24;2.3.2.24;3.6.5.2;6.3.2.n3;2.3.2.-;2.3.2.26;3.4.19.12;2.3.2.31", "go_molecular_function": "GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0019901 protein kinase binding;GO:0004629 phospholipase C activity;GO:0005509 calcium ion binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030027 lamellipodium;GO:0032587 ruffle membrane", "go_biological_process": "GO:1905564 positive regulation of vascular endothelial cell proliferation;GO:0016477 cell migration;GO:0019722 calcium-mediated signaling;GO:0009395 phospholipid catabolic process;GO:0045766 positive regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 67.0, "record_id": "P19174-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60503-1", "uniprot_id": "ADCY9_HUMAN", "mass": 150701.0, "length": 1353, "protein_name": "Adenylate cyclase type 9", "gene_name": "ADCY9", "organism": "Human", "refseq_name": "adenylate cyclase type 9", "refseq_ac": "NP_001107", "gene_names_uniprotkb": "ADCY9; KIAA0520", "gene_names_refseq": "AC9; ACIX; ADCY9", "protein_names_uniprotkb": "Adenylate cyclase type 9; 4.6.1.1; AC9; ACIX; ATP pyrophosphate-lyase 9; Adenylate cyclase type IX; Adenylyl cyclase 9", "protein_names_refseq": "ATP pyrophosphate-lyase 9; adenylate cyclase type 9; adenylate cyclase type IX; adenylyl cyclase 9; type IX ATP pyrophosphate-lyase", "tax_id": 9606, "disease": "newborn respiratory distress syndrome (Disease Ontology:DOID:12716); asthma (Disease Ontology:DOID:2841); mood disorder (Disease Ontology:DOID:3324); allergic asthma (Disease Ontology:DOID:9415)", "pathway": " (hsa:115); (R-HSA-163359); (R-HSA-163615); (R-HSA-164378); (R-HSA-170660); (R-HSA-170670); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-432040); (R-HSA-5610787); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-9856530)", "pathway_count": 15, "publication_count": 304, "publication_id_list": "10.1101/2023.09.13.557529;10075700;10376603;10496952;10579907;10639123;10649434;10714768;10764742;10861086;10954748;10966113;10987815;11007482;11034202;11043579;11076974;11237011;11313909;11375483;11773440;11832410;11853546;11968001;12036966;12058044;12106601;12117970;12120503;12176338;12180353;12192414;12194985;12417718;12435627;12724311;12801959;12860470;12972952;1325798;1347957;13549488;1372004;1373524;14514735;14592814;14603322;14671004;14675202;14701836;15087129;1510932;15161916;1517224;15245432;15304325;1534149;15539556;15703994;15705806;15718470;15765929;15769620;15879134;15879435;15930098;15951850;16061793;16120822;16136078;16229832;16254602;16311594;16313925;16339192;16396903;16407073;16407156;16493421;1658606;16613843;16634148;16645038;16687412;16707575;16780920;16921024;16923326;17027958;17081983;17156409;17168849;17178220;17200122;17230639;17379646;17442700;17553904;17641202;17762891;17960137;18044684;18070890;18202181;18327258;18434541;18455992;18511455;18566127;18577758;18669648;18678926;18710921;18818202;18832070;19000668;19020623;19105585;19144687;19170255;19196978;19223390;19286674;19342448;19365551;19383790;1939224;19549984;19574955;19592253;19666503;19723632;19741198;19767740;19776033;19876791;19877275;19906846;19929708;19931550;19948480;19996169;20067783;20068231;20154143;20207148;20381629;20395968;20412786;20460306;20844016;20889716;20956384;21036126;21037092;2105456;21209331;2163110;21695114;21801010;21844907;22007132;22231273;22391300;22495674;23186163;23209152;23332756;23675550;23719536;23863937;2417744;24190977;24273487;24275569;24302888;24339784;24530924;24687066;24845016;24863049;24917297;2491850;24925320;24952464;24962572;2534964;2553411;2553705;26190834;26417854;26987903;27392633;2748346;27566546;27797339;2834384;28450397;28502923;28595943;2871555;28832583;28834231;28904123;29242379;29443750;29557506;29602314;2991279;30429286;3049610;30833945;30833991;3104109;31154438;31205027;3127824;31279028;31399091;31844290;31983287;32161166;32226383;32296767;32387766;32488085;32497535;32540603;32618402;32715661;33049737;33968037;34087483;34171305;34499618;34609279;35051231;35494241;35580925;36010968;36111722;36215666;36657828;37217939;37579959;4065330;6085243;7503232;7510718;7517665;7522622;7526388;7530449;7535000;7538665;7559455;7568118;7595566;7651538;7678419;7876172;7937899;8007951;8015379;8063828;8119955;8140421;8226994;8243272;8327893;8340388;8340414;8406495;8514797;8522976;8527267;8598224;8621513;8657103;8663304;8672451;8683474;8700127;8702633;8855281;8862523;9000504;9042338;9050880;9162098;9227644;9263355;9314552;9369468;9374639;9374640;9417641;9620797;9628827;9651336;9756892;9829975;9857068;9865521", "class_list": "", "function": "A sex-specific evolutionary interaction between ADCY9 and CETP. Publication Status: Online-Only, [RefSeq, PubMed]; Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008]., [RefSeq]; Adenylyl cyclase that catalyzes the formation of the signaling molecule cAMP in response to activation of G protein-coupled receptors (PubMed:10987815, PubMed:12972952, PubMed:15879435, PubMed:9628827). Contributes to signaling cascades activated by CRH (corticotropin-releasing factor), corticosteroids and beta-adrenergic receptors (PubMed:9628827)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Human adenylyl cyclase 9 is auto-stimulated by its isoform-specific C-terminal domain. Publication Status: Online-Only, [RefSeq, PubMed]; The rs2601796 variant in ADCY9 gene is associated with severe asthma and less bronchodilator response., [RefSeq, PubMed]; [Association of the ADCY9 gene and gene-environmental interaction with the susceptibility to childhood bronchial asthma].', trans 'ADCY9., [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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A7E2V5;A7E2X2;D3DUD1;O60273;Q4ZHT9;Q4ZIR5;Q9BWT4;Q9UGP2", "ec_number_list": "4.6.1.1;3.6.5.-;2.7.7.85", "go_molecular_function": "GO:0004016 adenylate cyclase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0000166 nucleotide binding;GO:0016829 lyase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0006171 cAMP biosynthetic process;GO:0007165 signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 31.1, "record_id": "O60503-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13526-1", "uniprot_id": "PIN1_HUMAN", "mass": 18243.0, "length": 163, "protein_name": "Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1", "gene_name": "PIN1", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase NIMA-interacting 1", "refseq_ac": "NP_006212", "gene_names_uniprotkb": "PIN1", "gene_names_refseq": "DOD; PIN1; UBL5", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1; 5.2.1.8; PPIase Pin1; Peptidyl-prolyl cis-trans isomerase Pin1; Rotamase Pin1", "protein_names_refseq": "PPIase Pin1; parvulin PIN1; peptidyl-prolyl cis-trans isomerase NIMA-interacting 1; protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1; protein interacting with never in mitosis A1; rotamase Pin1", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); secondary hyperparathyroidism (Disease Ontology:DOID:12466); asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:5300); (R-HSA-1169408); (R-HSA-5668599); (R-HSA-6804756); (R-HSA-6811555); (R-HSA-936440)", "pathway_count": 6, "publication_count": 190, "publication_id_list": "10072071;10400704;10435622;10455184;10500146;10570149;10604467;10673500;10673501;10698683;10710310;10884347;11090627;11095724;11112487;11145705;11157743;11237011;11239457;11447225;11470801;11511362;11546806;11551930;11723108;11740489;11780126;11788588;12056906;12064478;12393879;12525615;12582176;12702766;12716910;12851404;12859901;12914926;14530365;14702041;15053879;15131269;15485925;15591124;15664191;15702989;15824103;15866171;16009940;16024799;16112642;16118204;16122702;16139798;16322561;16329988;16352599;16407192;16428300;16476580;16507994;1660188;16636067;16644721;16699525;16715065;16762923;16775314;16778989;16815975;16872604;16914094;16949365;17108107;17289916;17349958;17376915;17525332;17583407;17591690;17828269;17940011;17991829;18057259;18200010;18287095;18305167;18347018;18452278;18490454;18583345;18628984;19073728;19121998;19125153;19270716;19367327;19372727;19608861;19881509;19893624;19965871;20060900;20068231;20133869;20219937;20304918;20308324;20385878;20434986;20529865;20583997;20813901;20956805;20959462;21239714;21317932;21497122;22033920;22261503;22562304;22566623;22608923;22645359;22808130;23000554;23186163;23193159;23289851;23456038;23485397;23623683;23676219;23875749;23970419;23980663;24145406;24265246;24715725;24874608;25418920;25519816;25849135;25877926;26154972;26942675;26992070;27558335;27561354;27846572;27920218;28832583;28904123;29242379;29393594;29493099;29632046;29665256;29686383;29786170;30410026;30429286;31154438;31217245;31844290;31848261;32157095;32161166;32502341;33141586;33214551;33298915;33717175;33912179;33968037;34019948;34171305;34211107;35002518;35251023;38619104;38665916;38851160;7559393;8089108;8606777;9200606;9525617;9804763;9925639", "class_list": "", "function": "Peptidyl-prolyl cis/trans isomerase (PPIase) that binds to and isomerizes specific phosphorylated Ser/Thr-Pro (pSer/Thr-Pro) motifs (PubMed:21497122, PubMed:23623683, PubMed:29686383). By inducing conformational changes in a subset of phosphorylated proteins, acts as a molecular switch in multiple cellular processes (PubMed:21497122, PubMed:22033920, PubMed:23623683). Displays a preference for acidic residues located N-terminally to the proline bond to be isomerized. Regulates mitosis presumably by interacting with NIMA and attenuating its mitosis-promoting activity. Down-regulates kinase activity of BTK (PubMed:16644721). Can transactivate multiple oncogenes and induce centrosome amplification, chromosome instability and cell transformation. Required for the efficient dephosphorylation and recycling of RAF1 after mitogen activation (PubMed:15664191). Binds and targets PML and BCL6 for degradation in a phosphorylation-dependent manner (PubMed:17828269). Acts as a regulator of JNK cascade by binding to phosphorylated FBXW7, disrupting FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation: degradation of FBXW7 leads to subsequent stabilization of JUN (PubMed:22608923). May facilitate the ubiquitination and proteasomal degradation of RBBP8/CtIP through CUL3/KLHL15 E3 ubiquitin-protein ligase complex, hence favors DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:23623683, PubMed:27561354). Upon IL33-induced lung inflammation, catalyzes cis-trans isomerization of phosphorylated IRAK3/IRAK-M, inducing IRAK3 stabilization, nuclear translocation and expression of pro-inflammatory genes in dendritic cells (PubMed:29686383). Catalyzes cis-trans isomerization of phosphorylated phosphoglycerate kinase PGK1 under hypoxic conditions to promote its binding to the TOM complex and targeting to the mitochondrion (PubMed:26942675). Acts as a negative regulator of adipocyte browning by binding to phosphorylated PRDM16, targeting PRDM16 for degradation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated ser/thr-pro motifs to catalytically regulate the post-phosphorylation conformation of its substrates. The conformational regulation catalyzed by this PPIase has a profound impact on key proteins involved in the regulation of cell growth, genotoxic and other stress responses, the immune response, induction and maintenance of pluripotency, germ cell development, neuronal differentiation, and survival. This enzyme also plays a key role in the pathogenesis of Alzheimer's disease and many cancers. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]., [RefSeq]; Stereospecific NANOG PEST Stabilization by Pin1., [RefSeq, PubMed]; The peptidyl-prolyl isomerase Pin1 controls GM-CSF-induced priming of NADPH oxidase in human neutrophils and priming at inflammatory sites., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "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": "A8K4V9;Q53X75", "ec_number_list": "5.2.1.8;2.7.11.13;2.7.1.149;2.7.11.1;2.7.10.2", "go_molecular_function": "GO:0031434 mitogen-activated protein kinase kinase binding;GO:0050815 phosphoserine residue binding;GO:0051219 phosphoprotein binding;GO:0048156 tau protein binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0050808 synapse organization;GO:0001666 response to hypoxia;GO:1902430 negative regulation of amyloid-beta formation", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "Q13526-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00116-1", "uniprot_id": "ADAS_HUMAN", "mass": 72912.0, "length": 658, "protein_name": "Alkyldihydroxyacetonephosphate synthase, peroxisomal", "gene_name": "AGPS", "organism": "Human", "refseq_name": "alkyldihydroxyacetonephosphate synthase, peroxisomal precursor", "refseq_ac": "NP_003650", "gene_names_uniprotkb": "AGPS; AAG5", "gene_names_refseq": "ADAP-S; ADAS; ADHAPS; ADPS; AGPS; ALDHPSY; RCDP3", "protein_names_uniprotkb": "Alkyldihydroxyacetonephosphate synthase, peroxisomal; 2.5.1.26; Aging-associated gene 5 protein; Alkyl-DHAP synthase; Alkylglycerone-phosphate synthase", "protein_names_refseq": "aging-associated gene 5 protein; aging-associated protein 5; alkyl-DHAP synthase; alkyldihydroxyacetonephosphate synthase, peroxisomal precursor; alkyldihydroxyacetonephosphate synthase, peroxisomal", "tax_id": 9606, "disease": "rhizomelic chondrodysplasia punctata type 3 (Disease Ontology:DOID:0110853); rhizomelic chondrodysplasia punctata (Disease Ontology:DOID:2580)", "pathway": " (hsa:8540); (R-HSA-75896); (R-HSA-9033241); (R-HSA-9033500)", "pathway_count": 4, "publication_count": 173, "publication_id_list": "10022913;10215861;10415121;10562279;10673331;10692424;11101887;11152660;11237011;11237722;11466336;11546814;11781871;11931631;12456682;12559034;12578380;12717447;12885776;15118850;15545321;15858711;16766224;16854980;17007944;17726030;18359941;18669648;18712838;18991276;19197237;19208625;19584060;19608861;19632994;20068231;20178365;21554508;21976670;21980954;21990100;22002062;22057399;22371489;22747494;22863804;23186163;2335525;23963456;24235149;24275569;24366607;24397554;24715725;24865970;25016021;25418920;25469497;25505266;25538232;25542233;25576301;25854684;25880248;25892735;26086376;26138649;26154972;26220973;26344566;26375851;26811146;26929215;26992070;27397612;27452731;27597759;27600516;27846572;27862975;27920218;28218747;28228285;28510447;28514659;28521612;28611990;28765278;28787099;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29769354;29786170;30315122;30410026;30429286;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34357683;34509645;34561969;34621897;34725712;34932366;35051231;35083852;35251023;35318648;35580925;36010968;36241641;36284347;38200609;38253038;38665916;40596516;7719337;7790377;8186247;8399344;8824437;8858165;8991089;9089413;9090381;9090382;9090383;9187299;9536089;9539740;9553082;9653144;9668159;9837948", "class_list": "", "function": "Catalyzes the exchange of an acyl for a long-chain alkyl group and the formation of the ether bond in the biosynthesis of ether phospholipids., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Catalyzes the exchange of the acyl chain in acyl-dihydroxyacetonephosphate (acyl-DHAP) for a long chain fatty alcohol, yielding the first ether linked intermediate, i.e. alkyl-dihydroxyacetonephosphate (alkyl-DHAP), in the pathway of ether lipid biosynthesis., [UniProtKB, PubMed, PubMed]; Mass Spectrometry and Computer Simulation Predict the Interactions of AGPS and HNRNPK in Glioma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; TrkA promotes MDM2-mediated AGPS ubiquitination and degradation to trigger prostate cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; We optimized the BITC construction targeting alkylglycerone phosphate synthase (AGPS) by computer-aided design, and the derivants also showed anti-tumor potential in vitro., [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": 7, "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": "A5D8U9;Q2TU35", "ec_number_list": "2.5.1.26;1.14.11.18;2.3.1.42;2.3.2.27;2.3.1.16;2.3.1.9;2.3.1.155;2.3.2.36;3.4.21.-", "go_molecular_function": "GO:0008609 alkylglycerone-phosphate synthase activity;GO:0071949 FAD binding;GO:0050660 flavin adenine dinucleotide binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0008610 lipid biosynthetic process;GO:0008611 ether lipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "O00116-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N7X0-1", "uniprot_id": "ADGB_HUMAN", "mass": 189713.0, "length": 1667, "protein_name": "Androglobin", "gene_name": "ADGB", "organism": "Human", "refseq_name": "androglobin", "refseq_ac": "NP_078970", "gene_names_uniprotkb": "ADGB; C6orf103", "gene_names_refseq": "ADGB; C6orf103; CAPN16", "protein_names_uniprotkb": "Androglobin", "protein_names_refseq": "androglobin; calpain-7-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79747)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;22115833;24715725;24966926;25576336;26992070;28832583;29557506;31844290;33453283;35051231;36010968;36995441;39894887", "class_list": "", "function": "ADGB variants cause asthenozoospermia and male infertility., [RefSeq, PubMed]; Androglobin gene expression patterns and FOXJ1-dependent regulation indicate its functional association with ciliogenesis., [RefSeq, PubMed]; Molecular evolutionary analyses indicate that this chimeric globin family is phylogenetically ancient and originated in the common ancestor to animals and choanoflagellates. In humans and mice, the gene is predominantly expressed in testis tissue., [RefSeq, PubMed]; Probable chimeric globin with a bis-histidyl six-coordinate heme-iron atom through which it could bind dioxygen, carbon monoxide and nitric oxide (PubMed:22115833). Required for sperm flagellum formation and maturation of elongating spermatids, thus playing an essential role in male fertility (PubMed:36995441)., [UniProtKB, PubMed, PubMed]; Suggest ADGB is involved in the progression of glioma 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": 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": "Q5T402;Q5T904;Q5T905", "ec_number_list": "", "go_molecular_function": "GO:0004198 calcium-dependent cysteine-type endopeptidase activity;GO:0046872 metal ion binding;GO:0020037 heme binding;GO:0019825 oxygen binding", "go_cellular_component": "GO:0097227 sperm annulus;GO:0097225 sperm midpiece", "go_biological_process": "GO:0006508 proteolysis;GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8N7X0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q06481-1", "uniprot_id": "APLP2_HUMAN", "mass": 86956.0, "length": 763, "protein_name": "Amyloid beta precursor like protein 2", "gene_name": "APLP2", "organism": "Human", "refseq_name": "amyloid beta precursor like protein 2 isoform 2 precursor", "refseq_ac": "NP_001135748", "gene_names_uniprotkb": "APLP2; APPL2", "gene_names_refseq": "APLP-2; APLP2; APPH; APPL2; CDEBP", "protein_names_uniprotkb": "Amyloid beta precursor like protein 2; APLP-2; APPH; Amyloid beta (A4) precursor-like protein 2; Amyloid protein homolog; Amyloid-like protein 2; CDEBP; CDEI box-binding protein; Sperm membrane protein YWK-II", "protein_names_refseq": "CDEI box-binding protein; amyloid beta (A4) precursor-like protein 2; amyloid beta precursor like protein 2 isoform 2 precursor; amyloid precursor protein homolog HSD-2; sperm membrane protein YWK-II; testicular tissue protein Li 23", "tax_id": 9606, "disease": "Alzheimer's disease 1 (Disease Ontology:DOID:0080348); Alzheimer's disease (Disease Ontology:DOID:10652); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:334); (R-HSA-114608); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 152, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10026136;10077652;10081969;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11101689;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;1435334;14630798;14970211;15126567;15297306;15308688;15469690;15485880;15525596;15642270;17047378;17249697;17312271;17985932;18083107;18578522;19901323;20068231;21654843;23090970;23481700;23584533;23640497;24190977;24715725;2476804;2479552;25502872;25576301;25645385;25813380;26091039;26154972;26375851;26992070;27397612;27726376;27846572;28467828;28904123;29557506;29741879;30315122;30429286;30459171;30484775;30779550;30833945;31020640;31154438;31611695;31844290;31848261;32157095;32161166;32337544;32350084;32387766;32488085;32502341;32938616;32983136;33043033;33091337;33298915;33392160;33592498;33912179;33936100;33968037;34087483;34171305;34357683;34433824;34509645;35051231;35154160;35251023;35561310;35580925;36010968;36215666;36241641;36284347;37074911;37515494;37844466;37938771;38148084;6457647;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7651835;7683646;7689487;7702756;7929392;8220435;8307156;8467233;8485127;8781553;8817670;8855266;8894645;8964575;9109675;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Comprehensive intratumoral heterogeneity landscaping of liver hepatocellular carcinoma and discerning of APLP2 in cancer progression., [RefSeq, PubMed]; Implication of Amyloid Precursor-like Protein 2 Expression in Cutaneous Squamous Cell Carcinoma Pathogenesis., [RefSeq, PubMed]; May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards coagulation factors. May interact with cellular G protein signaling pathways. May bind to the DNA 5'-GTCACATG-3'(CDEI box). Inhibits trypsin, chymotrypsin, plasmin, factor XIA and plasma and glandular kallikrein. Modulates the Cu/Zn nitric oxide-catalyzed autodegradation of GPC1 heparan sulfate side chains in fibroblasts (By similarity)., [UniProtKB, PubMed]; Mycobacterium tuberculosis suppresses APLP2 expression to enhance its survival in macrophage., [RefSeq, PubMed]; This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 24, "disease_count": 3, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B3KXX9;H7BXI4;Q13861;Q14594;Q14662;Q71U10;Q7M4L3;Q9BT36", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0008201 heparin binding;GO:0042802 identical protein binding;GO:0046914 transition metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007409 axonogenesis;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "Q06481-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P21359-1", "uniprot_id": "NF1_HUMAN", "mass": 319372.0, "length": 2839, "protein_name": "Neurofibromin", "gene_name": "NF1", "organism": "Human", "refseq_name": "neurofibromin isoform 2", "refseq_ac": "NP_000258", "gene_names_uniprotkb": "NF1", "gene_names_refseq": "NF1; NFNS; VRNF; WSS", "protein_names_uniprotkb": "Neurofibromin; Neurofibromatosis-related protein NF-1", "protein_names_refseq": "neurofibromatosis 1; neurofibromatosis-related protein NF-1; neurofibromin isoform 2", "tax_id": 9606, "disease": "juvenile myelomonocytic leukemia (Disease Ontology:DOID:0050458); spinal neurofibromatosis (Disease Ontology:DOID:0070482); Watson syndrome (Disease Ontology:DOID:0070483); colorectal carcinoma (Disease Ontology:DOID:0080199); neurofibromatosis 1 (Disease Ontology:DOID:0111253); neurofibromatosis-Noonan syndrome (Disease Ontology:DOID:0111683); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); sciatic neuropathy (Disease Ontology:DOID:11446); autistic disorder (Disease Ontology:DOID:12849); colon cancer (Disease Ontology:DOID:219); transient cerebral ischemia (Disease Ontology:DOID:224); malignant astrocytoma (Disease Ontology:DOID:3069); high grade glioma (Disease Ontology:DOID:3070); lung non-small cell carcinoma (Disease Ontology:DOID:3908); optic nerve glioma (Disease Ontology:DOID:4992); plexiform neurofibroma (Disease Ontology:DOID:5151); sleep disorder (Disease Ontology:DOID:535); neurofibromatosis (Disease Ontology:DOID:8712); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:4763); (R-HSA-5658442); (R-HSA-6802953)", "pathway_count": 3, "publication_count": 207, "publication_id_list": "10220149;10336779;10607834;10671200;10712197;10980545;11237011;11258625;11493923;11704931;11727199;11735023;11857752;12522551;12552569;12600938;12646235;12707950;12746402;12787671;1302608;1339276;1457041;14988005;15060124;15146469;15520408;15523642;1568246;1568247;15683364;1570011;1570015;15948193;16380919;16397625;16478641;1662505;16959974;17160901;17187824;17322306;17389395;1783401;18083107;18220336;18452278;18578522;18669648;18691976;18767875;18772396;18772890;18948947;1923522;19413330;19467855;19573811;19651622;19664994;19690332;19691289;19845691;20058876;20068231;20655465;21089070;2114220;2116237;2121370;2121371;2134734;21406692;21720365;21838856;22108604;22645359;22751498;22802525;23027611;23171796;23186163;23443682;23481700;23661552;23758643;24275569;24413922;24576830;24814062;25418920;25505266;25548167;25576301;25645385;25802875;25880248;25892735;26154972;26214590;26375851;26768311;26811146;26992070;27543614;27600516;27846572;27893789;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29731959;29769354;29786170;29789417;30315122;30410026;30779550;30833945;31154438;31492838;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34357683;34405274;34509645;34626534;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38253038;38924432;38954284;38981629;7570581;7774960;7904209;7981679;7981724;8081387;8317503;8417346;8490657;8544190;8563751;8602361;8807336;8825042;8834249;9002664;9003501;9101300;9150739;9219684;9298829;9302992;9668168;9687500", "class_list": "", "function": "A Comprehensive Overview of NF1 Mutations in Iranian Patients. Publication Status: Online-Only, [RefSeq, PubMed]; C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme, [RefSeq, PubMed]; MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells. Erratum:[Sci Transl Med. 2024 Aug 28;16(762):eads3171. doi: 10.1126/scitranslmed.ads3171. PMID: 39196963], [RefSeq, PubMed]; Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1., [RefSeq, PubMed]; This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [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": 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": 25, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 292, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 20, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O00662;Q14284;Q14930;Q14931;Q9UMK3", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008429 phosphatidylethanolamine binding;GO:0031210 phosphatidylcholine binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0045124 regulation of bone resorption;GO:0001889 liver development;GO:0007507 heart development;GO:0008542 visual learning;GO:0021510 spinal cord development", "synthesized_glycan_count": 0, "hit_score": 21.2, "record_id": "P21359-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5JST6-1", "uniprot_id": "EFHC2_HUMAN", "mass": 87397.0, "length": 749, "protein_name": "EF-hand domain-containing family member C2", "gene_name": "EFHC2", "organism": "Human", "refseq_name": "EF-hand domain-containing family member C2", "refseq_ac": "NP_079460", "gene_names_uniprotkb": "EFHC2", "gene_names_refseq": "EFHC2; MRX74; dJ1158H2.1", "protein_names_uniprotkb": "EF-hand domain-containing family member C2", "protein_names_refseq": "EF-hand domain (C-terminal) containing 2; EF-hand domain-containing family member C2", "tax_id": 9606, "disease": "", "pathway": " (hsa:80258)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "16112844;17164267;17948898;25548167;26154972;29321361;29493099;29557506;30429286;32157095;33936100;35051231;35580925;36191189", "class_list": "", "function": "An association with the gonosomal gene EFHC2 would be in accordance with the observed preponderance of maternal inheritance in juvenile myoclonic epilepsy maternal inheritance of juvenile myoclonic epilepsy., [RefSeq, PubMed]; EFHC2 shows genealogy and extended LD consistent with directional selection. This novel QTL may influence social cognition in the general population and in autism., [RefSeq, PubMed]; Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating., [UniProtKB, PubMed]; No evidence of an association between rs7055196 genotype and fear recognition GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our observations provide new information on the genotype-phenotype relations of MAOA/B and EFHC2 genes involved in the contiguous deletions of Norrie disease.Based on the case of our observation, contiguous deletion with only one of the MAO genes (MAOB) may not cause psychomotor disability, and deletion of EFHC2may not contribute to epilepsy., [RefSeq, PubMed]; This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [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": 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": "Q5JST8;Q68DK4;Q8NEI0;Q9H653", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0036126 sperm flagellum;GO:0036064 ciliary basal body;GO:0005879 axonemal microtubule;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0048814 regulation of dendrite morphogenesis;GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q5JST6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15303-1", "uniprot_id": "ERBB4_HUMAN", "mass": 146808.0, "length": 1308, "protein_name": "Receptor tyrosine-protein kinase erbB-4", "gene_name": "ERBB4", "organism": "Human", "refseq_name": "receptor tyrosine-protein kinase erbB-4 isoform JM-a/CYT-2 precursor", "refseq_ac": "NP_001036064", "gene_names_uniprotkb": "ERBB4; HER4", "gene_names_refseq": "ALS19; ERBB4; HER4; p180erbB4", "protein_names_uniprotkb": "Receptor tyrosine-protein kinase erbB-4; 2.7.10.1; Proto-oncogene-like protein c-ErbB-4; Tyrosine kinase-type cell surface receptor HER4; p180erbB4; s80HER4", "protein_names_refseq": "avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4; human epidermal growth factor receptor 4; proto-oncogene-like protein c-ErbB-4; receptor tyrosine-protein kinase erbB-4 isoform JM-a/CYT-2 precursor; receptor tyrosine-protein kinase erbB-4; tyrosine kinase-type cell surface receptor HER4; v-erb-a erythroblastic leukemia viral oncogene homolog 4; v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); stroke (Disease Ontology:DOID:0051061); ductal carcinoma in situ (Disease Ontology:DOID:0060074); amyotrophic lateral sclerosis type 19 (Disease Ontology:DOID:0060210); intestinal cancer (Disease Ontology:DOID:10155); prostate cancer (Disease Ontology:DOID:10283); amblyopia (Disease Ontology:DOID:10376); urinary bladder cancer (Disease Ontology:DOID:11054); interstitial cystitis (Disease Ontology:DOID:13949); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); transitional cell carcinoma (Disease Ontology:DOID:2671); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); carcinoma (Disease Ontology:DOID:305); bipolar disorder (Disease Ontology:DOID:3312); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung adenocarcinoma (Disease Ontology:DOID:3910); radiculopathy (Disease Ontology:DOID:4306); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); schizophrenia (Disease Ontology:DOID:5419); stomach carcinoma (Disease Ontology:DOID:5517); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); median neuropathy (Disease Ontology:DOID:571); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:2066)", "pathway_count": 1, "publication_count": 85, "publication_id_list": "10348342;10353604;10358079;10722704;10725395;10744726;10867024;11178955;11237011;11390655;12807903;12939402;14504474;15534001;15746097;15944951;16061658;16203964;16251361;16273093;16729043;16778220;16815842;16837552;16934755;16978839;17120616;17344846;17486069;17638867;18236211;18287036;18334220;18437540;18452278;18454307;18473151;18721752;19098003;19193720;19561640;19878607;20858735;20933198;21396094;21439954;21811097;24119685;24715725;24791013;25880248;27374103;27771229;28904123;29393594;29557506;31154438;31371697;32357974;32415868;33141586;33298915;33392160;33912179;34087483;35051231;35154160;35318648;37074911;38063127;38149095;38369520;39276020;39407109;7689552;7902537;8383326;8570211;8617750;9135143;9168115;9275162;9334263;9419975;9516479", "class_list": "", "function": "ErbB4 affects Th1/Th17 cell differentiation and promotes psoriasis progression. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variants of ERBB4 gene and risk of gestational diabetes mellitus: a susceptibility and diagnostic nomogram study. Publication Status: Online-Only, [RefSeq, PubMed]; HER4 is a high-affinity dimerization partner for all EGFR/HER/ErbB family proteins., [RefSeq, PubMed]; Neuregulin-1 and ALS19 (ERBB4): at the crossroads of amyotrophic lateral sclerosis and cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The role and mechanism of NRG1/ErbB4 in inducing the differentiation of induced pluripotent stem cells into cardiomyocytes. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell proliferation, differentiation, migration and apoptosis. Required for normal cardiac muscle differentiation during embryonic development, and for postnatal cardiomyocyte proliferation. Required for normal development of the embryonic central nervous system, especially for normal neural crest cell migration and normal axon guidance. Required for mammary gland differentiation, induction of milk proteins and lactation. Acts as cell-surface receptor for the neuregulins NRG1, NRG2, NRG3 and NRG4 and the EGF family members BTC, EREG and HBEGF. Ligand binding triggers receptor dimerization and autophosphorylation at specific tyrosine residues that then serve as binding sites for scaffold proteins and effectors. Ligand specificity and signaling is modulated by alternative splicing, proteolytic processing, and by the formation of heterodimers with other ERBB family members, thereby creating multiple combinations of intracellular phosphotyrosines that trigger ligand- and context-specific cellular responses. Mediates phosphorylation of SHC1 and activation of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Isoform JM-A CYT-1 and isoform JM-B CYT-1 phosphorylate PIK3R1, leading to the activation of phosphatidylinositol 3-kinase and AKT1 and protect cells against apoptosis. Isoform JM-A CYT-1 and isoform JM-B CYT-1 mediate reorganization of the actin cytoskeleton and promote cell migration in response to NRG1. Isoform JM-A CYT-2 and isoform JM-B CYT-2 lack the phosphotyrosine that mediates interaction with PIK3R1, and hence do not phosphorylate PIK3R1, do not protect cells against apoptosis, and do not promote reorganization of the actin cytoskeleton and cell migration. Proteolytic processing of isoform JM-A CYT-1 and isoform JM-A CYT-2 gives rise to the corresponding soluble intracellular domains (4ICD) that translocate to the nucleus, promote nuclear import of STAT5A, activation of STAT5A, mammary epithelium differentiation, cell proliferation and activation of gene expression. The ERBB4 soluble intracellular domains (4ICD) colocalize with STAT5A at the CSN2 promoter to regulate transcription of milk proteins during lactation. The ERBB4 soluble intracellular domains can also translocate to mitochondria and promote apoptosis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 10, "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": 10, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 29, "reported_mutagensis": 26, "reported_glycation": 0, "reported_snv": 204, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 32, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B7ZLD7;B7ZLE2;B7ZLE3;Q2M1W1;Q59EW4", "ec_number_list": "2.7.12.2;2.7.10.1;2.7.10.2;2.7.11.1;2.7.12.1;2.7.1.40;2.7.1.32;2.7.1.82;2.7.10.4;2.7.11.13;2.7.11.23", "go_molecular_function": "GO:0038131 neuregulin receptor activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0005154 epidermal growth factor receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0021551 central nervous system morphogenesis;GO:0061026 cardiac muscle tissue regeneration;GO:0001934 positive regulation of protein phosphorylation;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q15303-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05412-1", "uniprot_id": "JUN_HUMAN", "mass": 35676.0, "length": 331, "protein_name": "Transcription factor Jun", "gene_name": "JUN", "organism": "Human", "refseq_name": "transcription factor Jun", "refseq_ac": "NP_002219", "gene_names_uniprotkb": "JUN", "gene_names_refseq": "AP-1; AP1; JUN; c-Jun; cJUN; p39", "protein_names_uniprotkb": "Transcription factor Jun; AP1; Activator protein 1; Proto-oncogene c-Jun; Transcription factor AP-1 subunit Jun; V-jun avian sarcoma virus 17 oncogene homolog; p39", "protein_names_refseq": "Jun activation domain binding protein; activator protein 1; enhancer-binding protein AP1; jun oncogene; proto-oncogene c-Jun; proto-oncogene cJun; transcription factor AP-1 subunit Jun; transcription factor AP-1; transcription factor Jun; v-jun avian sarcoma virus 17 oncogene homolog; v-jun sarcoma virus 17 oncogene homolog", "tax_id": 9606, "disease": "colorectal adenoma (Disease Ontology:DOID:0050860); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); prostate carcinoma (Disease Ontology:DOID:10286); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); prostate adenocarcinoma (Disease Ontology:DOID:2526); endometrial carcinoma (Disease Ontology:DOID:2871); pulmonary tuberculosis (Disease Ontology:DOID:2957); renal cell carcinoma (Disease Ontology:DOID:4450); renal carcinoma (Disease Ontology:DOID:4451); Hodgkin's lymphoma (Disease Ontology:DOID:8567); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:3725); (R-HSA-1912408); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2871796); (R-HSA-450341); (R-HSA-5617472); (R-HSA-5687128); (R-HSA-6796648); (R-HSA-8862803); (R-HSA-8943724); (R-HSA-9018519); (R-HSA-9673324); (R-HSA-9725370); (R-HSA-9909649); (R-HSA-9976102)", "pathway_count": 16, "publication_count": 882, "publication_id_list": "10026222;10064599;10196196;10216106;10347217;10376527;10393085;10395673;10432220;10470034;10500157;10509564;10523630;10523831;10548110;10556217;10556784;10581177;10604467;10617104;10637231;10639123;10667594;10698942;10702393;10706082;10706887;10722742;10754497;10772813;10777502;10788439;10828826;10830966;10871633;10873660;10878576;10934142;10974006;10975528;10984493;10995748;11007481;11010967;11034064;11046144;11076965;11101902;11103799;11110708;11114305;11136970;11165043;11180173;11237011;11278277;11278486;11280786;11306453;11310834;11340163;11340169;11345900;11350971;11352915;11358862;11378386;11401472;11410592;11432833;11452016;11504915;11545734;11564866;11581164;11584266;11682626;11689449;11737865;11739718;11751577;11751994;11779461;11781575;11804587;11823425;11850821;11853546;11943732;11948398;11959846;11961130;11971958;11988758;11988847;12015986;12021409;12040039;12087103;12097334;12112524;12134156;12169099;12185581;12189133;12193592;12221076;12421820;12424201;12435631;12441106;12498683;12533515;12546821;12612073;12618758;12646240;12670394;12716910;12740383;12750159;12800156;12808055;12808096;12832467;12853483;12881422;12915405;12920229;12934099;12947046;12959972;13130464;1324919;1328860;1421569;14507994;14508071;14532106;14617628;14631847;14636582;14657232;14675539;14679213;14690535;14739463;14962911;14991602;15001666;15135887;15138488;15143170;1516134;15169778;15208656;15226308;15226418;15240010;15276198;15282324;15287722;15327282;15343269;15345050;15374880;15378002;15389828;15467742;15472075;15514030;15538386;15548136;15563468;15577943;15588951;15590058;15608632;15684396;15774718;15781865;15844359;15845392;15860507;15866172;15867264;15895073;15896775;15936275;15986123;16009131;16023596;16046058;16079151;16087863;16113099;16153455;16161041;16170336;16186825;1630458;1630819;16329988;16337592;16360641;16371649;16418168;16436515;16478997;16481106;16549775;16612405;16626623;16636067;16676006;16698017;16702404;16733206;16740711;16762923;16819515;16825495;16826196;16834785;16871283;16934508;16939498;16964287;16971392;16973613;16980581;17013392;17086210;17130287;17161475;17185360;17210646;17210787;17254968;17255097;17277772;17325487;17332741;17344414;17344417;17353907;17395714;17395884;17416736;17428788;17455299;17463000;17483340;17495528;17510314;17510434;17540168;17540598;17540599;17554337;1756725;17625570;17627283;17637753;17660710;17666587;17670986;17685488;17690249;17713478;17728103;17761849;17765224;17804415;17823410;17825402;17851529;17873065;17875933;17908424;17920329;17947239;17952113;17974977;18031682;18097461;18162290;18172008;18187655;18212344;18219272;18235225;18248330;18252863;18256232;18267069;1831692;18322535;18347018;18358809;18365017;18391013;18411265;18419764;18452278;18452557;1846781;18476782;18487508;18533032;18555777;18555778;18593892;18593949;18594010;18644862;18650425;18669648;18691386;18701132;18707149;18719708;18720373;18724359;18762174;18781158;18793328;18805449;18805503;18844221;18923523;18923524;18923525;19001364;19020303;19088198;19098913;19115252;19118012;19124833;19150886;19166925;19232136;19274700;19295514;19321454;19365405;19383337;19413330;19440552;19451217;19451218;19456272;19459784;19462008;19473979;19513348;19528227;19574218;19592646;19593530;19604147;19664995;19690332;19714243;19718048;19723635;19747919;1975088;19773441;19782034;19805069;19806201;19818398;19854132;19860880;19884659;19909365;19937805;20006983;20058876;20068231;20080834;20082306;20085832;20090754;20219941;20220130;20233713;20236090;20351093;20351173;20395206;20442293;20442780;20452968;20454865;20457807;20482821;20490773;20495621;20498280;20516213;20536836;20543837;20570965;20682797;20734105;20801121;20805998;20831597;20849292;20852630;21106759;21134980;21136679;21151129;21164297;21177766;21177870;21213368;21278055;21280156;21289308;21296766;21296815;21317288;21329875;21329882;21364631;21372320;21402699;21406692;21415216;21445275;21494621;21551231;21559334;21573489;21596819;21602795;21647439;21656749;21808000;2181374;2183031;21835891;21838707;21847362;21860415;21875955;21878914;21934649;21940756;21979375;21986495;22012619;22020331;22056668;22067274;22083952;22110129;22128185;22178396;22249260;22265404;22266871;22267219;22279049;22307329;22325352;22327622;22336108;22347464;22360706;22406864;22424782;22492511;22505454;22508986;22545144;22561846;22569366;22570254;22634325;22658521;22683641;22704330;22705304;22800433;22860098;22879880;22899714;22988298;23069990;23104988;23109420;23139213;23145106;23172872;23186163;23192763;23201355;23219899;23239810;23287862;23301498;23303788;23396967;23403292;23435229;23481700;23534758;23562655;23624934;23630040;23645983;23661334;23665993;23723241;23752190;23792175;23821037;23846687;23878308;23906331;23942796;23957430;24038215;2405250;24060861;24113186;24118792;24167369;24174538;24263171;24291398;24309468;24312487;24371278;24445538;24475247;24496003;24512202;24518094;24554720;24559171;24585635;24586203;24606718;24613930;24618420;24623306;24631457;24662513;24706756;24715725;24718924;24735615;24736082;24797581;24838122;24854081;24865425;24885040;24938188;24973012;24998469;25101834;25121353;25121739;25135475;25260534;25296600;25339975;25342631;25365482;25393796;25402510;25421750;25422452;25429106;25433557;25483191;25542856;25561469;25576301;25633194;25645385;25663755;25674852;2570724;25712099;25714020;25728608;25728767;25797258;25813404;25814555;25823818;25892735;25913784;25921060;26001147;26018080;26035356;26056233;26062823;26078032;26098773;26153859;26154972;26204489;26242913;26243309;26289944;26301689;26375851;26462610;26479350;26745678;26755651;26825459;26910647;26977885;26992070;27062924;27089238;27245569;27324700;27458189;27486656;27556506;27573755;27590675;27600516;27708396;27862975;27869123;27874193;27886276;27920218;28057023;28169350;28184937;28228285;2825349;28404650;28446606;28470144;28539435;28539628;28542209;28659337;28741662;28811522;28832583;28834231;28904123;29029460;29078276;29101237;2919170;29242379;29285221;29331515;29351928;29455642;29557506;29632046;29786170;29873274;29888211;30001391;30012597;30131584;30195772;30315122;30385408;30410026;30429286;3045126;30524438;30531837;30692217;30887599;30922965;31092671;31154438;31217245;31341047;31366041;31394193;31492838;31527692;31530632;31766464;31772330;31844290;31848261;31878941;31918717;31942184;3194415;31956895;31964911;31998317;32054096;32157095;32161166;32183950;32266931;32357974;32369499;32387766;32488085;32502341;32690100;3281094;32860047;32870666;32897882;32938616;32982289;32983136;33117682;33141586;33214551;33392160;33537174;33592498;33686291;33717175;33912179;33926470;33928088;33968037;33981976;34019948;34087483;34171305;34405274;34408980;34509645;3498214;35051231;35138101;35318648;35580925;36010968;36241641;36253406;36284347;3677090;37938771;38665916;38905153;38987586;39210147;40596516;41365299;41507163;7488013;7501971;7535770;7559524;7559638;7588633;7698360;7737130;7799959;7813438;7816143;7824924;7831296;7855889;7859739;7898927;7906964;7908827;7935387;7935485;7937828;7997270;8001816;8016110;8036019;8072547;8078588;8107774;8137421;8195246;8197458;8224842;8234276;8259215;8319905;8355696;8384717;8413215;8413306;8419924;8426747;8464713;8493579;8617720;8622669;8622688;8626550;8633037;8654373;8662824;8663278;8663478;8673706;8674428;8688489;8702662;8741839;8759021;8774846;8837781;8846784;8855261;8875991;8876171;8878478;8884985;8939459;8947551;8974401;8986718;8995445;9030721;9063748;9099726;9162025;9162092;9174618;9195981;9199344;9201922;9218805;9228946;9272954;9293774;9338790;9348296;9365242;9388265;9407028;9407138;9425017;9464996;9482740;9488446;9520479;9529249;9535855;9564042;9611253;9628874;9639556;9651196;9671459;9674432;9682022;9687508;9693032;9716412;9731700;9732876;9742208;9747882;9768359;9784400;9819383;9820149;9824166;9878062;9988737;9989831", "class_list": "", "function": "(Microbial infection) Upon Epstein-Barr virus (EBV) infection, binds to viral BZLF1 Z promoter and activates viral BZLF1 expression., [UniProtKB, PubMed]; A non-canonical repressor function of JUN restrains YAP activity and liver cancer growth., [RefSeq, PubMed]; Interferon subverts an AHR-JUN axis to promote CXCL13[+] T cells in lupus. Erratum:[Nature. 2024 Aug;632(8025):E6. doi: 10.1038/s41586-024-07845-8. PMID: 39060417], [RefSeq, PubMed]; The Role of Activator Protein-1 Complex in Diabetes-Associated Atherosclerosis: Insights From Single-Cell RNA Sequencing., [RefSeq, PubMed]; This gene is the putative transforming gene of avian sarcoma virus 17. It encodes a protein which is highly similar to the viral protein, and which interacts directly with specific target DNA sequences to regulate gene expression. This gene is intronless and is mapped to 1p32-p31, a chromosomal region involved in both translocations and deletions in human malignancies. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that recognizes and binds to the AP-1 consensus motif 5'-TGA[GC]TCA-3' (PubMed:10995748, PubMed:22083952). Heterodimerizes with proteins of the FOS family to form an AP-1 transcription complex, thereby enhancing its DNA binding activity to the AP-1 consensus sequence 5'-TGA[GC]TCA-3' and enhancing its transcriptional activity (By similarity). Together with FOSB, plays a role in activation-induced cell death of T cells by binding to the AP-1 promoter site of FASLG/CD95L, and inducing its transcription in response to activation of the TCR/CD3 signaling pathway (PubMed:12618758). Promotes activity of NR5A1 when phosphorylated by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation (PubMed:17210646). Involved in activated KRAS-mediated transcriptional activation of USP28 in colorectal cancer (CRC) cells (PubMed:24623306). Binds to the USP28 promoter in colorectal cancer (CRC) cells (PubMed:24623306)., [UniProtKB, 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": 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": 16, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 16, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 16, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 53, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 17, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "Q6FHM7;Q96G93", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0003723 RNA binding;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0017053 transcription repressor complex;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0019046 release from viral latency;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:0042127 regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 90.1, "record_id": "P05412-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P12931-1", "uniprot_id": "SRC_HUMAN", "mass": 59835.0, "length": 536, "protein_name": "Proto-oncogene tyrosine-protein kinase Src", "gene_name": "SRC", "organism": "Human", "refseq_name": "proto-oncogene tyrosine-protein kinase Src", "refseq_ac": "NP_005408", "gene_names_uniprotkb": "SRC; SRC1", "gene_names_refseq": "ASV; SRC1; SRC; THC6; c-SRC; p60-Src", "protein_names_uniprotkb": "Proto-oncogene tyrosine-protein kinase Src; 2.7.10.2; Proto-oncogene c-Src; p60-Src; pp60c-src", "protein_names_refseq": "proto-oncogene c-Src; proto-oncogene tyrosine-protein kinase Src; protooncogene SRC, Rous sarcoma; tyrosine kinase pp60c-src; tyrosine-protein kinase SRC-1; v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); ductal carcinoma in situ (Disease Ontology:DOID:0060074); colorectal carcinoma (Disease Ontology:DOID:0080199); Parkinsonism (Disease Ontology:DOID:0080855); intestinal cancer (Disease Ontology:DOID:10155); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); hypertension (Disease Ontology:DOID:10763); lesion of sciatic nerve (Disease Ontology:DOID:12528); colon carcinoma (Disease Ontology:DOID:1520); thrombocytopenia (Disease Ontology:DOID:1588); status epilepticus (Disease Ontology:DOID:1824); Williams-Beuren syndrome (Disease Ontology:DOID:1928); colon cancer (Disease Ontology:DOID:219); brain ischemia (Disease Ontology:DOID:2316); colon adenocarcinoma (Disease Ontology:DOID:234); Goldenhar syndrome (Disease Ontology:DOID:2907); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung adenocarcinoma (Disease Ontology:DOID:3910); pancreatic acinar cell adenocarcinoma (Disease Ontology:DOID:5742); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); type 2 diabetes mellitus (Disease Ontology:DOID:9352); thrombocytopenia 6 (MONDO:MONDO:0014837)", "pathway": " (hsa:6714); (R-HSA-1227986); (R-HSA-1251985); (R-HSA-1253288); (R-HSA-1257604); (R-HSA-180292); (R-HSA-186763); (R-HSA-2219530); (R-HSA-354192); (R-HSA-354194); (R-HSA-372708); (R-HSA-418555); (R-HSA-418594); (R-HSA-418885); (R-HSA-418886); (R-HSA-428542); (R-HSA-5673000); (R-HSA-5674135); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-6811558); (R-HSA-8874081); (R-HSA-8876493); (R-HSA-8934593); (R-HSA-8940973); (R-HSA-8941858); (R-HSA-9009391); (R-HSA-9013420); (R-HSA-9032500); (R-HSA-9603381); (R-HSA-9620244); (R-HSA-9634597); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9680350); (R-HSA-9766229); (R-HSA-9958810)", "pathway_count": 39, "publication_count": 825, "publication_id_list": "10.1101/2023.09.13.557529;10022129;10191262;10205168;10209122;10319328;10406800;10409742;10427092;10446041;10508235;10521801;10544291;10579907;10648629;10712905;10714768;10725339;10734310;10747847;10749889;10753943;10777559;10806474;10856244;10878805;10891492;10896934;10913131;10964917;10995436;11007482;11007774;11029009;11029403;11032810;11043579;11044445;11071886;11106645;11147812;11152665;11185956;11237011;11279199;11323411;11325826;11369763;11389730;11459829;11476890;11494123;11518702;11545733;11606067;11679632;11689445;11741534;11756411;11773440;11773442;11773443;11802164;11802165;11803464;11804588;11817894;11825873;11940607;11964124;11981029;12005431;12036966;12048194;12058044;12068308;12091389;12106601;12120503;12149262;12167717;12172539;12180353;12221082;12231506;12244094;12387813;12388769;12391164;12415108;12421825;12431978;12468645;12473660;12479806;12509223;12511868;12529404;12551923;12585966;12588983;12615910;12640026;12651161;12682286;12753909;12766170;12767043;12767803;12807903;12808053;12810718;12832465;12860470;12881510;12882960;12925710;12932319;12932339;1314164;1325671;1334462;13549488;1374684;1375321;1378832;1396585;14517306;14530258;14560030;14585963;14632929;14636584;14661060;14665621;14671004;14675202;14701753;14754902;14764897;14765127;14963108;14967142;14970219;14985335;15023535;15033483;15035987;15040784;15044318;15090535;15117969;15118098;15138260;15157149;1517224;15231819;15231873;15239952;15245432;15258589;15260967;15314172;15331439;15334074;15350535;15466214;15467163;15467451;15469846;15489898;15494732;15494734;15496458;15504032;15520807;15534001;15539556;15543157;15546918;15547943;15556869;15557120;15568014;15569929;15574420;15574733;15630448;15643424;15657067;15705661;15705806;15710605;15711535;15718470;15765929;15769620;15788770;15834429;15851033;15899852;15951850;15956360;15960985;16005629;16025100;16040750;16041367;16061658;16076873;16093354;16099986;16115959;16135787;16140942;16186108;16239258;16274718;16287839;16294014;16313925;16339315;16364920;16456541;16479011;16508002;16537381;16581250;16619028;16630891;16634148;16636149;16645038;16647110;16687412;16702958;16751105;16757337;16782899;16835357;16879721;1688559;16912174;1691439;16919435;16923326;16978839;17016520;17018285;17018604;17030621;17037979;1706616;17097642;1713455;17145850;17148760;17168849;17178906;17200115;17202804;17218263;1722201;17237358;17293535;17344846;17379646;17389395;17424910;17431401;17463226;17496912;17504809;17525128;17525734;17535799;17563371;17574028;17589498;17603482;17603483;17624957;17626883;17627624;17686471;17855352;17916740;17921256;17991742;18024423;18044684;18066058;18069897;18079394;18088087;18198129;18206197;18212043;18253061;18287029;18294816;18317450;18434541;18434644;18467591;18477452;18559533;18562239;18566127;18577758;18586953;18594509;18606717;18614016;18624796;18653540;18653779;18657504;18662992;18691976;18721752;18754654;18755892;18829560;18925875;18936167;18974108;19047365;19049963;19064640;19091303;19105585;19114653;19138696;19158341;19185485;19193720;19212436;19219045;19242111;19279408;19307596;19342448;19369195;19389811;19411071;19415658;19419966;19467855;19520085;19541618;19576174;19596786;19602594;19644473;19651622;19664994;19665017;19684605;19727074;1973074;19741198;19801668;19805105;19807924;19808967;19876791;19878566;19879889;19929708;19931550;19933846;19962665;20052757;20068231;20100835;20130576;20141835;20166139;20179705;20219970;2022652;20231295;20308328;20338997;20381629;20439495;20489731;20501847;20522708;20525694;20526349;20534535;20547754;20565769;20650261;20674547;20686481;20713702;20802513;20818844;20820846;20858867;20861220;20863376;20877012;21036126;21036157;21049007;21107323;21173110;21188471;21309750;21317208;21368164;21411625;21424530;21441104;21441910;21442427;21460222;21478295;21499296;21508312;21514245;21565175;2163110;21636306;21639808;21668414;21680538;21779496;21784453;21827948;21844907;21851428;2196173;21976531;21984976;21993244;22028449;22031296;22043453;22113612;22120714;22153499;22177953;22188813;22266855;22292133;22294297;22323579;22356324;22395615;22446104;22483114;22495674;22510884;22564745;22569528;22588880;22589270;22592532;22710723;22745804;22759635;22761868;22801373;22802530;22826437;22848421;22888118;23171796;23186163;23230144;23288408;23333304;23352452;23360980;23360994;23453624;23467908;23564345;23583981;23614898;23667175;23680146;23863182;23875798;23906342;23934108;23993095;24039841;24117380;24121058;24121489;24135138;2417744;24190977;24202393;24211266;24275569;24308844;24345920;24347342;24388988;24480479;24530924;24632723;24651010;2466336;24687066;24714562;2472219;24746704;24810047;24829397;24890514;2491850;24936616;24937142;24957944;24962572;2498394;25123307;25195011;25204415;25253721;25313996;25339152;2534964;25435214;2543678;25452107;25453939;25501895;25502872;2553411;2553705;25562167;25585026;25587652;25644401;25672415;25731159;25751262;25779657;2581127;2582238;25865393;25880248;25907612;25965804;26029847;26091350;26154972;26190834;26214590;26234813;26235028;26280083;26343583;26417854;26453921;26586761;26598620;26626996;26696895;26716895;26749280;2681803;26923594;26936507;26967290;26978032;26984511;26987903;26992070;27105527;27166196;27169346;27227380;27264673;27288742;27391433;27392633;2748346;27797343;27846572;27920218;27999210;28082416;28141839;28228285;28278510;28289718;2834384;28449373;28450397;28467828;28539435;28595943;28649982;28656243;28666118;2871555;28832583;28903391;28904123;28939558;28984291;29069627;29190494;29242379;29356040;29393594;29443750;29461827;29467321;29508533;29557506;29602314;29723154;29738483;29747452;29786170;29844682;29954829;2996780;30034615;30304684;30315122;30341294;30573663;30779550;30794926;30823936;30833945;30833991;30862675;3093483;31154438;31217245;3127824;31279028;31399091;31428570;31530632;31598171;31671408;31827720;31844290;31871319;31983287;32098194;32157095;32226383;32265295;32350084;32357974;32497535;32540603;32618402;32715661;32737221;32792487;32839549;3287375;32876513;32938616;32977471;32981934;32983136;3299057;33049737;33112055;33147457;33298915;33388549;33503805;33592498;33717175;33916261;33936100;33968037;33981976;34171305;34185709;34234773;34335982;34357683;34433824;35051231;35154160;35494241;35580925;35927303;37074911;38346942;38755258;38780416;39049649;39198451;6085243;6273838;7478576;7478590;7509446;7513017;7525268;7526779;7530249;7532003;7538781;7542586;7556068;7565670;7565795;7568118;7578094;7597091;7637810;7651538;7678701;7681396;7685273;7691811;7692233;7731720;7737969;7744773;7744815;7750475;7853507;7891679;7929212;7929275;7929427;7935391;7935411;7937899;7997267;8015379;8026468;8051079;8054685;8157000;8319227;8340388;8355686;8386878;8388543;8406495;8443409;8514797;8521512;8521513;8521514;8598224;8601315;8617201;8617750;8621432;8621540;8631894;8637718;8645157;8647855;8649368;8657148;8657151;8665853;8672451;8672527;8702633;8755247;8755529;8755732;8759729;8782602;8789131;8861902;8876196;8876252;8922363;8940081;8946910;8981370;9010229;9020159;9024657;9148947;9173876;9174343;9182762;9208935;9225065;9234708;9263355;9351824;9356464;9395517;9417118;9417641;9442882;9484840;9488729;9546424;9565625;9566877;9571170;9584165;9616126;9651336;9689060;9733512;9736715;9739761;9823899;9858547;9890893;9895304;9924018;9950216;9988270", "class_list": "", "function": "Early-stage lung cancer is driven by a transitional cell state dependent on a KRAS-ITGA3-SRC axis., [RefSeq, PubMed]; Human pannexin 1 channel is not phosphorylated by Src tyrosine kinase at Tyr199 and Tyr309. Publication Status: Online-Only, [RefSeq, PubMed]; Non-receptor protein tyrosine kinase which is activated following engagement of many different classes of cellular receptors including immune response receptors, integrins and other adhesion receptors, receptor protein tyrosine kinases, G protein-coupled receptors as well as cytokine receptors (PubMed:34234773). Participates in signaling pathways that control a diverse spectrum of biological activities including gene transcription, immune response, cell adhesion, cell cycle progression, apoptosis, migration, and transformation. Due to functional redundancy between members of the SRC kinase family, identification of the specific role of each SRC kinase is very difficult. SRC appears to be one of the primary kinases activated following engagement of receptors and plays a role in the activation of other protein tyrosine kinase (PTK) families. Receptor clustering or dimerization leads to recruitment of SRC to the receptor complexes where it phosphorylates the tyrosine residues within the receptor cytoplasmic domains. Plays an important role in the regulation of cytoskeletal organization through phosphorylation of specific substrates such as AFAP1. Phosphorylation of AFAP1 allows the SRC SH2 domain to bind AFAP1 and to localize to actin filaments. Cytoskeletal reorganization is also controlled through the phosphorylation of cortactin (CTTN) (Probable). When cells adhere via focal adhesions to the extracellular matrix, signals are transmitted by integrins into the cell resulting in tyrosine phosphorylation of a number of focal adhesion proteins, including PTK2/FAK1 and paxillin (PXN) (PubMed:21411625). In addition to phosphorylating focal adhesion proteins, SRC is also active at the sites of cell-cell contact adherens junctions and phosphorylates substrates such as beta-catenin (CTNNB1), delta-catenin (CTNND1), and plakoglobin (JUP). Another type of cell-cell junction, the gap junction, is also a target for SRC, which phosphorylates connexin-43 (GJA1). SRC is implicated in regulation of pre-mRNA-processing and phosphorylates RNA-binding proteins such as KHDRBS1 (Probable). Phosphorylates PKP3 at 'Tyr-195' in response to reactive oxygen species, which may cause the release of PKP3 from desmosome cell junctions into the cytoplasm (PubMed:25501895). Also plays a role in PDGF-mediated tyrosine phosphorylation of both STAT1 and STAT3, leading to increased DNA binding activity of these transcription factors (By similarity). Involved in the RAS pathway through phosphorylation of RASA1 and RASGRF1 (PubMed:11389730). Plays a role in EGF-mediated calcium-activated chloride channel activation (PubMed:18586953). Required for epidermal growth factor receptor (EGFR) internalization through phosphorylation of clathrin heavy chain (CLTC and CLTCL1) at 'Tyr-1477'. Involved in beta-arrestin (ARRB1 and ARRB2) desensitization through phosphorylation and activation of GRK2, leading to beta-arrestin phosphorylation and internalization. Has a critical role in the stimulation of the CDK20/MAPK3 mitogen-activated protein kinase cascade by epidermal growth factor (Probable). Might be involved not only in mediating the transduction of mitogenic signals at the level of the plasma membrane but also in controlling progression through the cell cycle via interaction with regulatory proteins in the nucleus (PubMed:7853507). Plays an important role in osteoclastic bone resorption in conjunction with PTK2B/PYK2. Both the formation of a SRC-PTK2B/PYK2 complex and SRC kinase activity are necessary for this function. Recruited to activated integrins by PTK2B/PYK2, thereby phosphorylating CBL, which in turn induces the activation and recruitment of phosphatidylinositol 3-kinase to the cell membrane in a signaling pathway that is critical for osteoclast function (PubMed:14585963, PubMed:8755529). Upon activation of the G(q)-dependent KISS1/KISS1R signaling pathway, active SRC is recruited, together with the phosphatase DUSP18, to the KISS1R C-terminus (PubMed:38346942). This leads to DUSP18-mediated SRC dephosphorylation and inactivation, down-regulation of osteoclast differentiation and activity, and consequently suppression of bone resorption (By similarity). Promotes energy production in osteoclasts by activating mitochondrial cytochrome C oxidase (PubMed:12615910). Phosphorylates DDR2 on tyrosine residues, thereby promoting its subsequent autophosphorylation (PubMed:16186108). Phosphorylates RUNX3 and COX2 on tyrosine residues, TNK2 on 'Tyr-284' and CBL on 'Tyr-731' (PubMed:20100835, PubMed:21309750). Enhances RIGI-elicited antiviral signaling (PubMed:19419966). Phosphorylates PDPK1 at 'Tyr-9', 'Tyr-373' and 'Tyr-376' (PubMed:14585963). Phosphorylates BCAR1 at 'Tyr-128' (PubMed:22710723). Phosphorylates CBLC at multiple tyrosine residues, phosphorylation at 'Tyr-341' activates CBLC E3 activity (PubMed:20525694). Phosphorylates synaptic vesicle protein synaptophysin (SYP) (By similarity). Involved in anchorage-independent cell growth (PubMed:19307596). Required for podosome formation (By similarity). Mediates IL6 signaling by activating YAP1-NOTCH pathway to induce inflammation-induced epithelial regeneration (PubMed:25731159). Phosphorylates OTUB1, promoting deubiquitination of RPTOR (PubMed:35927303). Phosphorylates caspase CASP8 at 'Tyr-380' which negatively regulates CASP8 processing and activation, down-regulating CASP8 proapoptotic function (PubMed:16619028). Mediates laminin-induced activation of RAC1 signaling through phosphorylation of syntrophin (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Non-receptor protein tyrosine kinase which phosphorylates synaptophysin with high affinity., [UniProtKB, UniProtKB]; Non-receptor protein tyrosine kinase which shows higher basal kinase activity than isoform 1, possibly due to weakened intramolecular interactions which enhance autophosphorylation of Tyr-419 and subsequent activation (By similarity). The SH3 domain shows reduced affinity with the linker sequence between the SH2 and kinase domains which may account for the increased basal activity (By similarity). Displays altered substrate specificity compared to isoform 1, showing weak affinity for synaptophysin and for peptide substrates containing class I or class II SH3 domain-binding motifs (By similarity). Plays a role in L1CAM-mediated neurite elongation, possibly by acting downstream of L1CAM to drive cytoskeletal rearrangements involved in neurite outgrowth (By similarity)., [UniProtKB, UniProtKB]; Role of the GRP78-c-Src signaling pathway on osteoblast differentiation of periodontal ligament fibroblasts induced by cyclic mechanical stretch., [RefSeq, PubMed]; The proto-oncogene tyrosine kinase c-SRC facilitates glioblastoma progression by remodeling fatty acid synthesis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 32, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 25, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E1P5V4;Q76P87;Q86VB9;Q9H5A8", "ec_number_list": "2.7.1.153;2.7.1.137;2.7.12.2;2.7.10.1;2.3.2.27;3.1.3.86;2.7.10.2;2.7.11.1;2.7.12.1;3.6.5.2;3.6.5.-;2.7.1.40;3.1.4.11;3.1.3.48;2.7.11.24;2.7.1.32;2.7.1.82;2.7.10.4;2.7.1.154;3.6.4.-;3.2.2.6;2.7.11.13;2.7.11.17;2.7.11.23;2.7.1.107;2.7.1.94;2.7.1.138;2.7.7.-;2.7.7.19;1.14.11.65;3.1.31.1;3.1.3.56;3.1.3.36", "go_molecular_function": "GO:0071253 connexin binding;GO:0004672 protein kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005829 cytosol", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:2000641 regulation of early endosome to late endosome transport;GO:0030316 osteoclast differentiation;GO:0045124 regulation of bone resorption;GO:0051057 positive regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 83.7, "record_id": "P12931-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61812-1", "uniprot_id": "TGFB2_HUMAN", "mass": 47748.0, "length": 414, "protein_name": "Transforming growth factor beta-2 proprotein", "gene_name": "TGFB2", "organism": "Human", "refseq_name": "transforming growth factor beta-2 proprotein isoform 1 precursor", "refseq_ac": "NP_001129071", "gene_names_uniprotkb": "TGFB2", "gene_names_refseq": "CAEND2; G-TSF; LDS4; TGF-beta2; TGFB2", "protein_names_uniprotkb": "Transforming growth factor beta-2 proprotein; Cetermin; G-TSF; Glioblastoma-derived T-cell suppressor factor", "protein_names_refseq": "BSC-1 cell growth inhibitor; cetermin; glioblastoma-derived T-cell suppressor factor; polyergin; prepro-transforming growth factor beta-2; transforming growth factor beta-2 proprotein isoform 1 precursor; transforming growth factor beta-2 proprotein", "tax_id": 9606, "disease": "Loeys-Dietz syndrome (Disease Ontology:DOID:0050466); Camurati-Engelmann disease 2 (Disease Ontology:DOID:0061230); Loeys-Dietz syndrome 4 (Disease Ontology:DOID:0070233); colon carcinoma (Disease Ontology:DOID:1520); osteochondrodysplasia (Disease Ontology:DOID:2256); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); liver cirrhosis (Disease Ontology:DOID:5082); pancreatic adenosquamous carcinoma (Disease Ontology:DOID:5637); myocardial infarction (Disease Ontology:DOID:5844); colorectal cancer (Disease Ontology:DOID:9256); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:7042); (R-HSA-114608); (R-HSA-2129379); (R-HSA-2173789); (R-HSA-3000178); (R-HSA-9839389)", "pathway_count": 6, "publication_count": 138, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10025398;10339611;10424889;10544250;10646116;10673326;10930463;11084047;11100470;11141505;11259413;11323414;11390472;11528528;11970960;12225811;12358597;12415008;12429738;12482908;12706107;12958365;1333888;1376317;1400330;1435334;1448117;14630798;14701737;14715956;15075323;15296743;15297306;15350224;1544908;15564041;16293224;1631557;1641027;16493581;1708799;17324935;17588949;1764261;17827158;18339631;18469808;19651619;19720988;2059554;20625381;21642437;21646718;21789315;22134916;22772368;22772371;23090970;23290524;23640497;2364322;2412224;24190977;2420006;2430969;25046559;25576301;2850146;29314611;29557506;29632711;29741879;29786170;30429286;30833945;31154438;3162414;31844290;31848261;32157095;32938616;32983136;3322813;33592498;33968037;34087483;34171305;34509645;3476488;35051231;35154160;35289036;35580925;36010968;36228153;36284347;37074911;38489601;38861185;39014191;39147560;40204055;6193777;6439184;6457647;7499434;7500359;7527058;7534784;7542669;7559467;7685013;7693660;7693733;7737999;7852349;8002934;8047140;8242743;8440685;8467233;8798654;8943283;8947046;8980228;9233797;9252349;9294172;9311995;9341124;9346959;9346966;9685393;9725916;9865696;9949188", "class_list": "", "function": "Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II., [RefSeq, PubMed]; Interleukin-1alpha inhibits transforming growth factor-beta1 and beta2-induced extracellular matrix production, remodeling and signaling in human lung fibroblasts: Master regulator in lung mucosal repair., [RefSeq, PubMed]; Introduction of miR-3613-3p as a regulator of transforming growth factor-beta (TGF-beta) signaling pathway in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MicroRNA-141-3p Suppressed the Progression of the Clear Cell Renal Cell Carcinoma by Targeting Transforming Growth Factor Beta 2 Gene Expression., [RefSeq, PubMed]; Multifunctional protein that regulates various processes such as angiogenesis and heart development (PubMed:22772368, PubMed:22772371). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains remain non-covalently linked rendering TGF-beta-2 inactive during storage in extracellular matrix (By similarity). At the same time, LAP chain interacts with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-2 and maintain it in a latent state during storage in extracellular milieus (By similarity). Once activated following release of LAP, TGF-beta-2 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]; Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively., [UniProtKB, UniProtKB, UniProtKB]; Required to maintain the Transforming growth factor beta-2 (TGF-beta-2) chain in a latent state during storage in extracellular matrix (By similarity). Associates non-covalently with TGF-beta-2 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-2 (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [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": 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": 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": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 11, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DKC5;P08112;Q15579;Q15581;Q4VAV9", "ec_number_list": "", "go_molecular_function": "GO:0034714 type III transforming growth factor beta receptor binding;GO:0005102 signaling receptor binding;GO:0042803 protein homodimerization activity;GO:0001540 amyloid-beta binding;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005768 endosome;GO:0030424 axon;GO:0031012 extracellular matrix", "go_biological_process": "GO:1904888 cranial skeletal system development;GO:0046580 negative regulation of Ras protein signal transduction;GO:0009792 embryo development ending in birth or egg hatching;GO:0042704 uterine wall breakdown;GO:1902256 regulation of apoptotic process involved in outflow tract morphogenesis", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "P61812-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P093-1", "uniprot_id": "ADCL2_HUMAN", "mass": 46099.0, "length": 401, "protein_name": "Arylacetamide deacetylase-like 2", "gene_name": "AADACL2", "organism": "Human", "refseq_name": "arylacetamide deacetylase-like 2 precursor", "refseq_ac": "NP_997248", "gene_names_uniprotkb": "AADACL2", "gene_names_refseq": "AADACL2", "protein_names_uniprotkb": "Arylacetamide deacetylase-like 2; 3.1.1.-", "protein_names_refseq": "arylacetamide deacetylase-like 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:344752)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;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": 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": "Q5HYJ4", "ec_number_list": "", "go_molecular_function": "GO:0052689 carboxylic ester hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6P093-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00214-1", "uniprot_id": "LEG8_HUMAN", "mass": 35808.0, "length": 317, "protein_name": "Galectin-8", "gene_name": "LGALS8", "organism": "Human", "refseq_name": "galectin-8 isoform a", "refseq_ac": "NP_006490", "gene_names_uniprotkb": "LGALS8", "gene_names_refseq": "Gal-8; LGALS8; PCTA-1; PCTA1; Po66-CBP", "protein_names_uniprotkb": "Galectin-8; Gal-8; PCTA-1; Po66 carbohydrate-binding protein; Po66-CBP; Prostate carcinoma tumor antigen 1", "protein_names_refseq": "Po66 carbohydrate binding protein; galectin-8 isoform a; galectin-8g; lectin, galactoside-binding, soluble, 8; po66 carbohydrate-binding protein; prostate carcinoma tumor antigen 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3964)", "pathway_count": 1, "publication_count": 87, "publication_id_list": "10697573;10852818;10980616;11237011;11494049;15489334;16710414;16738849;19268462;21288902;22246324;22913484;23386746;23511477;24418318;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26992070;27600516;27846572;27973456;28000747;28077878;28218747;28446606;28832583;28904123;29242379;29314611;29437277;29493099;29557506;29632711;29786170;29789417;30429286;30833945;31020640;31217245;31844290;32157095;32209695;32350084;32387766;32449990;32502341;32805218;32814053;32897882;32915505;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33717175;33936100;33968037;34171305;34211107;34357683;34509645;34735570;34795863;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36284347;37331541;37938771;38158714;38246423;38395460;39000016;39337581;8692978", "class_list": "glycogene", "function": "Association of GAL-8 promoter methylation levels with coronary plaque inflammation., [RefSeq, PubMed]; Beta-galactoside-binding lectin that acts as a sensor of membrane damage caused by infection and restricts the proliferation of infecting pathogens by targeting them for autophagy (PubMed:22246324, PubMed:28077878). Detects membrane rupture by binding beta-galactoside ligands located on the lumenal side of the endosome membrane; these ligands becoming exposed to the cytoplasm following rupture (PubMed:22246324, PubMed:28077878). Restricts infection by initiating autophagy via interaction with CALCOCO2/NDP52 (PubMed:22246324, PubMed:28077878). Required to restrict infection of bacterial invasion such as S.typhimurium (PubMed:22246324). Also required to restrict infection of Picornaviridae viruses (PubMed:28077878). Has a marked preference for 3'-O-sialylated and 3'-O-sulfated glycans (PubMed:21288902)., [UniProtKB, PubMed, PubMed, PubMed]; Expression of Intracellular Galectin-8 and -9 in Endometrial Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Galectin-8 Contributes to Human Trophoblast Cell Invasion. Publication Status: Online-Only, [RefSeq, PubMed]; Galectin-8 modulates human osteoclast activity partly through isoform-specific interactions. Publication Status: Online-Only, [RefSeq, PubMed]; Hypoxia-induced galectin-8 maintains stemness in glioma stem cells via autophagy regulation., [RefSeq, PubMed]; This gene encodes a member of the galectin family. Galectins are beta-galactoside-binding animal lectins with conserved carbohydrate recognition domains. The galectins have been implicated in many essential functions including development, differentiation, cell-cell adhesion, cell-matrix interaction, growth regulation, apoptosis, and RNA splicing. This gene is widely expressed in tumoral tissues and seems to be involved in integrin-like cell interactions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 428, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O15215;Q5T3P5;Q5T3Q4;Q8TEV1;Q96B92;Q9BXC8;Q9H584;Q9H585;Q9UEZ6;Q9UP32;Q9UP33;Q9UP34", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0098792 xenophagy;GO:0098586 cellular response to virus;GO:1904977 lymphatic endothelial cell migration", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "O00214-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z695-1", "uniprot_id": "ADCK2_HUMAN", "mass": 68982.0, "length": 626, "protein_name": "Uncharacterized aarF domain-containing protein kinase 2", "gene_name": "ADCK2", "organism": "Human", "refseq_name": "uncharacterized aarF domain-containing protein kinase 2", "refseq_ac": "NP_443085", "gene_names_uniprotkb": "ADCK2; AARF", "gene_names_refseq": "AARF; ADCK2", "protein_names_uniprotkb": "Uncharacterized aarF domain-containing protein kinase 2; 2.7.11.-", "protein_names_refseq": "putative ubiquinone biosynthesis protein AarF; uncharacterized aarF domain-containing protein kinase 2", "tax_id": 9606, "disease": "mitochondrial myopathy (Disease Ontology:DOID:699)", "pathway": " (hsa:90956)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11237011;17344846;20877624;22424782;23481700;24366607;25576301;25645385;25967120;26154972;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29557506;29786170;30315122;30429286;31154438;31217245;31480808;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33717175;33968037;33981976;34087483;34171305;34211107;34509645;34561969;35051231;35580925;37938771", "class_list": "", "function": "ADCK4-related glomerulopathy is an important novel differential diagnosis in adolescents with SRNS/FSGS and/or CKD of unknown origin, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr) (Probable). Involved in the mitochondrial import of CoQ precursors, plays a role in muscle mitochondrial function and fatty acid beta-oxidation (PubMed:31480808)., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96CN6;Q9Y6T5", "ec_number_list": "", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "GO:0010795 regulation of ubiquinone biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q7Z695-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14734-1", "uniprot_id": "ACOT8_HUMAN", "mass": 35914.0, "length": 319, "protein_name": "Acyl-coenzyme A thioesterase 8", "gene_name": "ACOT8", "organism": "Human", "refseq_name": "acyl-coenzyme A thioesterase 8", "refseq_ac": "NP_005460", "gene_names_uniprotkb": "ACOT8; ACTEIII; PTE1", "gene_names_refseq": "ACOT8; HNAACTE; NAP1; PTE-1; PTE-2; PTE1; PTE2; hACTE-III; hTE", "protein_names_uniprotkb": "Acyl-coenzyme A thioesterase 8; 3.1.2.11; 3.1.2.1; 3.1.2.27; 3.1.2.2; 3.1.2.3; 3.1.2.5; Acyl-CoA thioesterase 8; Choloyl-coenzyme A thioesterase; HIV-Nef-associated acyl-CoA thioesterase; PTE-1; PTE-2; Peroxisomal acyl-CoA thioesterase 2; Peroxisomal acyl-coenzyme A thioester hydrolase 1; Peroxisomal long-chain acyl-CoA thioesterase 1; Thioesterase II; hACTE-III; hACTEIII; hTE", "protein_names_refseq": "HIV-Nef associated acyl-CoA thioesterase; Nef (lentivirus myristoylated factor) associated protein 1; acyl-coenzyme A thioesterase 8; choloyl-CoA hydrolase; choloyl-coenzyme A thioesterase; long-chain fatty-acyl-CoA hydrolase; palmitoyl-CoA hydrolase; peroxisomal acyl-CoA thioesterase 1; peroxisomal acyl-CoA thioesterase 2; peroxisomal acyl-coenzyme A thioester hydrolase 1; peroxisomal long-chain acyl-CoA thioesterase 1; thioesterase III", "tax_id": 9606, "disease": "", "pathway": " (hsa:10005); (R-HSA-193368); (R-HSA-2046106); (R-HSA-389887); (R-HSA-390247); (R-HSA-9033241)", "pathway_count": 6, "publication_count": 147, "publication_id_list": "10022913;10051404;10092594;10198260;10479480;10486279;10562279;10601301;10655068;10673331;10749848;10899997;10944470;11060344;11060359;11067870;11101887;11158055;11237011;11500517;11514237;11546814;11673457;11734571;11755680;11781871;11931631;11980911;11988075;12323085;12323090;12456682;12559034;12562770;12562861;12578380;12679481;12713571;12716664;12717447;12885776;12897190;1346092;1400444;14636670;15060085;15099582;15194431;15545321;15599942;15858711;16385454;1651711;16756494;1679347;16854980;16940157;17007944;1708392;17726030;1834642;18359941;18538142;18691976;18712838;19056654;19197237;19208625;19584060;19632994;20178365;2019602;20220067;21145416;21554508;21976670;21980954;22002062;22057399;22371489;22493507;22534643;22745130;22747494;2351134;2384150;23963456;24235149;24865970;25016021;25538232;25854684;26086376;26138649;26154972;26220973;26344566;27597759;28510447;28521612;28611990;28765278;28787099;29493099;29557506;30410026;31844290;32157095;32350084;32488085;32938616;32983136;33141586;33298915;33500543;33633747;33968037;36010968;486181;6798973;7061494;7508385;7649182;7719337;7790377;8034703;8096621;8387517;8656081;8824437;8832760;8858165;8902629;8943006;8991089;9089413;9090381;9090382;9090383;9153233;9271077;9299485;9539740;9653144;9660774;9668159;9837948", "class_list": "", "function": "(Microbial infection) May mediate Nef-induced down-regulation of CD4 cell-surface expression (PubMed:9153233)., [UniProtKB, PubMed]; Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels (PubMed:15194431, PubMed:9153233, PubMed:9299485). Displays no strong substrate specificity with respect to the carboxylic acid moiety of Acyl-CoAs (By similarity). Hydrolyzes medium length (C2 to C20) straight-chain, saturated and unsaturated acyl-CoAS but is inactive towards substrates with longer aliphatic chains (PubMed:9153233, PubMed:9299485). Moreover, it catalyzes the hydrolysis of CoA esters of bile acids, such as choloyl-CoA and chenodeoxycholoyl-CoA and competes with bile acid CoA:amino acid N-acyltransferase (BAAT) (By similarity). Is also able to hydrolyze CoA esters of dicarboxylic acids (By similarity). It is involved in the metabolic regulation of peroxisome proliferation (PubMed:15194431)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "O15261;Q17RX4", "ec_number_list": "3.6.1.-;3.6.1.77;3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.42;1.3.3.6;2.3.2.27;3.1.1.4;3.1.1.5;1.1.1.42;1.11.1.6;3.4.24.56;1.4.3.3;2.6.1.51;2.6.1.44;2.3.1.176;2.3.1.16;2.3.1.155;2.3.2.36;1.14.13.39;4.1.3.4;3.1.2.-;2.3.1.9;2.3.1.137;2.3.1.7;3.1.2.22;5.3.3.21;2.3.1.65;3.4.21.-;3.5.2.6;1.5.3.13;3.4.21.53;1.4.3.1;1.1.1.184;1.3.1.38;1.3.1.124;3.1.2.14;1.1.3.15;1.5.3.1;1.5.3.7;5.1.99.4;4.1.2.63;1.2.3.5;2.5.1.18", "go_molecular_function": "GO:0003986 acetyl-CoA hydrolase activity;GO:0004778 succinyl-CoA hydrolase activity;GO:0016289 acyl-CoA hydrolase activity;GO:0033882 choloyl-CoA hydrolase activity;GO:0047617 fatty acyl-CoA hydrolase activity", "go_cellular_component": "GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006637 acyl-CoA metabolic process;GO:0006699 bile acid biosynthetic process;GO:0009062 fatty acid catabolic process;GO:0016559 peroxisome fission;GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "O14734-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O96019-1", "uniprot_id": "ACL6A_HUMAN", "mass": 47461.0, "length": 429, "protein_name": "Actin-like protein 6A", "gene_name": "ACTL6A", "organism": "Human", "refseq_name": "actin-like protein 6A isoform 1", "refseq_ac": "NP_004292", "gene_names_uniprotkb": "ACTL6A; BAF53A; BAF53; INO80K", "gene_names_refseq": "ACTL6A; ACTL6; ARPN-BETA; Arp4; BAF53A; INO80K; SMARCN1", "protein_names_uniprotkb": "Actin-like protein 6A; 53 kDa BRG1-associated factor A; Actin-related protein Baf53a; ArpNbeta; BAF53A; BRG1-associated factor 53A; INO80 complex subunit K", "protein_names_refseq": "53 kDa BRG1-associated factor A; BAF complex 53 kDa subunit; BAF53; BRG1-associated factor 53A; INO80 complex subunit K; actin-like protein 6A isoform 1; actin-like protein 6A; actin-related protein 4; actin-related protein Baf53a; arpNbeta; hArpN beta", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:86); (R-HSA-3214847); (R-HSA-3214858); (R-HSA-5689603); (R-HSA-5696394); (R-HSA-8939243); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9933937); (R-HSA-9933939); (R-HSA-9933946); (R-HSA-9933947); (R-HSA-9934037)", "pathway_count": 13, "publication_count": 210, "publication_id_list": "10078207;10380635;10391953;10587587;10786633;10821277;10966108;11230166;11237011;11279143;11341840;11448779;11509179;11532965;11747826;11751582;11756452;11839798;11856727;11964381;12062444;12368262;12732143;12815074;12944386;12963728;1321344;14742321;14966270;15196461;15313887;1537333;1537334;15485929;15543135;15640446;15695812;15729346;15811629;15882621;15964821;15985610;16223728;16230350;16265664;16303920;16387653;16473935;16678110;16906146;16917507;17081983;17139257;17182843;17215844;17498659;17640523;17882165;17898714;17952075;18026119;18079182;18381289;18404153;18483556;18491316;18497827;18623064;18695000;18697795;18765789;18809673;18812475;18922472;19109893;19187765;19188440;19234465;19389701;19609301;19717472;19815555;20018852;20068231;20436459;20506188;20805357;20855601;20951943;21135142;21303910;21316606;21388382;21555454;21774791;22118460;22231400;22325351;22464331;22898188;22952240;23045548;23186163;23319653;23481700;23644491;23785148;24267888;24366607;24715725;2530630;25576301;25645385;25880248;25892735;26154972;26365797;26375851;26601204;26694611;26992070;27600516;27920218;28218747;28228285;28510447;28514659;28533407;28649782;28832583;28834231;28904123;29242379;29331515;29374058;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30429286;30515787;30524438;31154438;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33100333;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34357683;34405274;34465901;34509645;34561969;34725712;34932366;35051231;35318648;35580127;35580925;36010968;36215666;36284347;36526622;36631007;36768349;37938771;38359823;38523407;38665916;40596516;40914422;7813420;8168482;8306979;8804307;8921401;9427644;9528852;9558366;9642256;9758418;9790970;9845365;9880483", "class_list": "", "function": "Actin-like Protein 6A Expression Correlates with Cancer Stem Cell-like Features and Poor Prognosis in Ovarian Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; BAF53A drives colorectal cancer development by regulating DUSP5-mediated ERK phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; High expression of ACTL6A leads to poor prognosis of oral squamous cell carcinoma patients through promoting malignant progression., [RefSeq, PubMed]; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Targeting VPS72 inhibits ACTL6A/MYC axis activity in HCC progression., [RefSeq, PubMed]; This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms 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": 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": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KMN1;D3DNR9;Q8TAE5;Q9BVS8;Q9H0W6", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0016514 SWI/SNF complex;GO:0031011 Ino80 complex", "go_biological_process": "GO:0060382 regulation of DNA strand elongation;GO:0033044 regulation of chromosome organization;GO:1902459 positive regulation of stem cell population maintenance;GO:2000819 regulation of nucleotide-excision repair;GO:0003407 neural retina development", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "O96019-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14672-1", "uniprot_id": "ADA10_HUMAN", "mass": 84142.0, "length": 748, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 10", "gene_name": "ADAM10", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 10 isoform 1 preproprotein", "refseq_ac": "NP_001101", "gene_names_uniprotkb": "ADAM10; KUZ; MADM", "gene_names_refseq": "AD10; AD18; ADAM10; CD156c; CDw156; HsT18717; MADM; RAK; kuz", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 10; 3.4.24.81; ADAM 10; CDw156; Kuzbanian protein homolog; Mammalian disintegrin-metalloprotease", "protein_names_refseq": "a disintegrin and metalloprotease domain 10; disintegrin and metalloproteinase domain-containing protein 10 isoform 1 preproprotein; disintegrin and metalloproteinase domain-containing protein 10; kuzbanian protein homolog; mammalian disintegrin-metalloprotease", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); reticulate acropigmentation of Kitamura (Disease Ontology:DOID:0060258); traumatic brain injury (Disease Ontology:DOID:0081292); Alzheimer's disease 18 (Disease Ontology:DOID:0110050); Alzheimer's disease (Disease Ontology:DOID:10652); thoracic aortic aneurysm (Disease Ontology:DOID:14004); status epilepticus (Disease Ontology:DOID:1824); cataract (Disease Ontology:DOID:83); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:102); (R-HSA-1442490); (R-HSA-1474228); (R-HSA-177929); (R-HSA-2122948); (R-HSA-2644606); (R-HSA-2660826); (R-HSA-2691232); (R-HSA-2894862); (R-HSA-2979096); (R-HSA-381426); (R-HSA-3928665); (R-HSA-6798695); (R-HSA-8957275); (R-HSA-9013507); (R-HSA-9013700); (R-HSA-977225)", "pathway_count": 17, "publication_count": 462, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10026136;10049780;10077652;10079256;10097139;10206645;10218588;10229672;10319874;10386589;10391242;10411933;10512690;10551863;10551873;10583407;10614670;10681634;10706100;10713164;10809722;10810289;10879540;10882063;10898936;10912521;10934472;10951195;10956649;10958687;10964718;10986281;10990447;11006133;11013208;11044625;11119712;11158056;11171333;11226752;11237011;11250653;11264294;11278841;11316783;11375993;11401442;11448999;11467836;11477090;11511685;11518718;11522292;11577169;11590439;11606061;11739083;11740940;11751371;11786905;11788658;11823422;11861489;11872628;118839;11927537;12050117;12209127;12241545;12354787;12379487;12391150;12454989;12466191;12475894;12530964;12579531;1270801;12727852;12810533;12843408;12904166;12973357;1370451;1383255;14506261;14567678;14567914;14973287;14980219;15005656;15064394;15107403;15126567;15234972;15257288;15308688;15351694;15469690;15485880;15525596;15533827;15546612;15569487;15574878;15591058;15642270;15652348;15760269;15824097;15829515;15848800;15950618;15958533;15962837;15965470;16093323;16133547;16174740;16239146;16263699;16284625;1649600;16511561;16530044;16631740;16738328;16773578;16799559;16825197;16825321;1688559;1698775;17003037;17028573;1704217;17047378;1707285;17088321;17114293;17249697;17312271;17332331;17354228;17401372;17425515;17428795;17557115;17608959;17646408;17646409;17985932;18043734;18065497;18070888;18077452;18237417;18296446;1831692;1837051;18374649;18381078;1840698;18418349;18434311;18449172;18469519;18484335;1849145;18622425;18628966;18658137;18700817;18713744;18824583;18824585;19000840;19010778;19011241;19114711;19151708;19159218;19208840;19349973;19524514;19567869;19571574;19608551;19657146;19658395;19714641;19726682;19828817;2005102;20112406;20142769;20156974;20164177;2022652;20348102;20496116;20592283;20624979;20676056;20807650;20972443;21030783;2118650;21288900;21297635;21441952;21593211;21618342;21632553;21670566;2169335;21784848;21864727;21935455;2195544;22065755;22131221;22159414;22162134;22241472;22382088;2253219;22658935;22658936;22869377;23035980;23090970;23186163;23555621;23584533;23650620;23666529;23676497;23813966;23845380;23912460;24055016;2409350;24190977;24275569;24714562;24715725;2476804;2479552;24833601;24842903;24893886;24990881;25125655;25356737;2537292;25418920;2543678;25469497;2548603;25502872;2551898;25523424;25576301;25645385;25740432;25813380;25880248;26018760;26091039;26154972;26375851;26417681;26668317;26686862;26728094;26768311;26807092;26811146;26876177;26992070;27090790;27397612;27600516;27726376;27846572;27862975;279930;2834383;2845110;28467828;28600292;28834231;28871256;28904123;2900981;29224781;29242379;29314611;29430990;29437277;29493099;29557506;29632711;29741879;29856954;29856955;30312582;30315122;3035556;3038863;30429286;30459171;30463011;30484775;3053705;30573663;30626607;30779550;3080684;30833945;3094007;31020640;31075398;31154438;31217245;3142462;3153318;31611695;31792032;31844290;31848261;31998317;32157095;32161166;32162841;3223920;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33691108;33717175;33731436;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34185709;34211107;34357683;34433824;34509645;34739841;34932366;35051231;35154160;35251023;35289036;35318648;35561310;35580925;36215666;36241641;36284347;3675579;37074911;37516108;37938771;38253038;38280480;38815628;38863060;38897568;40596516;6258630;6270089;6694361;7075587;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7547873;7566092;7588063;7588299;7683646;7689487;7890717;803282;8033412;8097946;8114934;8159701;8226919;8313469;8463259;8464497;8490014;8576151;8626565;8639530;8692836;8694785;8781553;8817670;8845374;8870004;8894645;8920930;8964575;8999957;9006323;9016778;9054935;9065415;9092507;9115292;9148753;9207787;9207788;9244301;9305925;9315665;9384573;9461298;9462510;9497324;9590294;9604939;9620803;9651395;9651681;9694793;9709957;9733769;9786878;9819428;9852107;9862427;9922210", "class_list": "", "function": "(Microbial infection) Promotes the cytotoxic activity of S.aureus hly by binding to the toxin at zonula adherens and promoting formation of toxin pores., [UniProtKB, PubMed, PubMed]; ADAM10 as a major activator of reactive oxygen species production and klotho shedding in podocytes under diabetic conditions., [RefSeq, PubMed]; Direct interaction of platelet with tumor cell aggravates hepatocellular carcinoma metastasis by activating TLR4/ADAM10/CX3CL1 axis., [RefSeq, PubMed]; Downregulation of the metalloproteinases ADAM10 or ADAM17 promotes osteoclast differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; Ectodomain shedding of PLA2R1 is mediated by the metalloproteases ADAM10 and ADAM17., [RefSeq, PubMed]; Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicing results in multiple transcript variants encoding different proteins that may undergo similar processing. [provided by RefSeq, Feb 2016]., [RefSeq]; The 5'-UTR of ADAM10 may have an important role for post-transcriptional regulation of ADAM10 expression and consequently Abeta production., [RefSeq, PubMed]; Transmembrane metalloprotease which mediates the ectodomain shedding of a myriad of transmembrane proteins, including adhesion proteins, growth factor precursors and cytokines being essential for development and tissue homeostasis (PubMed:11786905, PubMed:12475894, PubMed:20592283, PubMed:24990881, PubMed:26686862, PubMed:28600292, PubMed:31792032, PubMed:31792032). Associates with six members of the tetraspanin superfamily TspanC8 which regulate its exit from the endoplasmic reticulum and its substrate selectivity (PubMed:26686862, PubMed:28600292, PubMed:31792032, PubMed:34739841, PubMed:37516108). Cleaves the membrane-bound precursor of TNF at '76-Ala-|-Val-77' to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). Responsible for the proteolytic release of several other cell-surface proteins, including heparin-binding epidermal growth-like factor, ephrin-A2, CD44, CDH2 and for constitutive and regulated alpha-secretase cleavage of amyloid precursor protein (APP) (PubMed:11786905, PubMed:26686862, PubMed:29224781, PubMed:34739841, PubMed:33731436). Contributes to the normal cleavage of the cellular prion protein (PubMed:11477090). Involved in the cleavage of the adhesion molecule L1 at the cell surface and in released membrane vesicles, suggesting a vesicle-based protease activity (PubMed:12475894). Also controls the proteolytic processing of Notch and mediates lateral inhibition during neurogenesis (By similarity). Required for the development of type 1 transitional B cells into marginal zone B cells, probably by cleaving Notch (By similarity). Responsible for the FasL ectodomain shedding and for the generation of the remnant ADAM10-processed FasL (FasL APL) transmembrane form (PubMed:17557115). Also cleaves the ectodomain of the integral membrane proteins CORIN and ITM2B (PubMed:19114711, PubMed:21288900). Mediates the proteolytic cleavage of LAG3, leading to release the secreted form of LAG3 (By similarity). Mediates the proteolytic cleavage of IL6R and IL11RA, leading to the release of secreted forms of IL6R and IL11RA (PubMed:26876177). Enhances the cleavage of CHL1 by BACE1 (By similarity). Cleaves NRCAM (By similarity). Cleaves TREM2, resulting in shedding of the TREM2 ectodomain (PubMed:24990881). Involved in the development and maturation of glomerular and coronary vasculature (By similarity). During development of the cochlear organ of Corti, promotes pillar cell separation by forming a ternary complex with CADH1 and EPHA4 and cleaving CADH1 at adherens junctions (By similarity). May regulate the EFNA5-EPHA3 signaling (PubMed:16239146). Regulates leukocyte transmigration as a sheddase for the adherens junction protein VE-cadherin/CDH5 in endothelial cells (PubMed:28600292)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 4, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 58, "disease_count": 9, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B4DU28;Q10742;Q92650", "ec_number_list": "1.8.3.2;3.4.24.81;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.51;1.14.19.17;5.2.1.-;3.4.24.-;3.2.1.20;2.3.1.20;2.3.1.76;2.7.11.1;3.4.21.-;1.11.1.27;1.16.3.1;1.11.1.9;1.16.3.4;3.4.21.73;3.6.5.2;3.4.21.69;1.6.3.-;5.3.4.1;3.6.4.-;2.7.10.1;3.1.3.48;1.14.14.18;1.2.1.5;1.2.1.28;1.2.1.7;1.2.1.48;3.4.24.86;7.6.2.1;3.2.2.6;1.1.1.-;3.1.4.4;3.4.21.112;2.3.2.27;2.3.1.78;3.1.1.98;3.1.1.4;3.1.1.3;3.2.1.51;2.4.1.145", "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0005178 integrin binding;GO:0008237 metallopeptidase activity;GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0005798 Golgi-associated vesicle", "go_biological_process": "GO:0001701 in utero embryonic development;GO:0006509 membrane protein ectodomain proteolysis;GO:0007162 negative regulation of cell adhesion;GO:0007219 Notch signaling pathway;GO:0007229 integrin-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 53.6, "record_id": "O14672-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75689-1", "uniprot_id": "ADAP1_HUMAN", "mass": 43395.0, "length": 374, "protein_name": "Arf-GAP with dual PH domain-containing protein 1", "gene_name": "ADAP1", "organism": "Human", "refseq_name": "arf-GAP with dual PH domain-containing protein 1 isoform 4", "refseq_ac": "NP_001271240", "gene_names_uniprotkb": "ADAP1; CENTA1", "gene_names_refseq": "ADAP1; CENTA1; GCS1L; p42IP4", "protein_names_uniprotkb": "Arf-GAP with dual PH domain-containing protein 1; Centaurin-alpha-1; Cnt-a1; Putative MAPK-activating protein PM25", "protein_names_refseq": "arf-GAP with dual PH domain-containing protein 1 isoform 4; arf-GAP with dual PH domain-containing protein 1; centaurin-alpha-1; centaurin-alpha; cnt-a1; putative MAPK-activating protein PM25", "tax_id": 9606, "disease": "", "pathway": " (hsa:11033); (R-HSA-1251985)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10333475;10448098;11237011;11679632;12761501;12807903;12893243;15023535;15534001;16061658;16912174;17018285;18653779;19047365;19596786;19608861;23230144;24308844;24829397;27846572;28832583;29485866;29493099;29557506;29659066;29789417;30779550;32157095;32350084;32387766;32488085;33443153;33912179;33936100;33981976;35051231;35232997;35702822;36284347;37156999;38682696", "class_list": "", "function": "ADAP1 promotes latent HIV-1 reactivation by selectively tuning KRAS-ERK-AP-1 T cell signaling-transcriptional axis. Publication Status: Online-Only, [RefSeq, PubMed]; Arf GTPase-Activating proteins ADAP1 and ARAP1 regulate incorporation of CD63 in multivesicular bodies., [RefSeq, PubMed]; GTPase-activating protein for the ADP ribosylation factor family (Probable). Binds phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). Regulates the incorporation of CD63 and CD9 into multivesicular bodies (PubMed:38682696)., [UniProtKB, PubMed, PubMed, PubMed]; Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries., [RefSeq, PubMed]; In vitro reconstitution reveals phosphoinositides as cargo-release factors and activators of the ARF6 GAP ADAP1., [RefSeq, PubMed]; Oncogenic fusion transcript analysis identified ADAP1-NOC4L, potentially associated with metastatic 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "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": "A4D2Q2;B3KRZ4;B4DVA6;F6XZ68;H7C2Q4", "ec_number_list": "", "go_molecular_function": "GO:1902936 phosphatidylinositol bisphosphate binding;GO:0005096 GTPase activator activity;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0008270 zinc ion binding;GO:0043533 inositol 1,3,4,5 tetrakisphosphate binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0043087 regulation of GTPase activity", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "O75689-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00213-1", "uniprot_id": "APBB1_HUMAN", "mass": 77244.0, "length": 710, "protein_name": "Amyloid beta precursor protein binding family B member 1", "gene_name": "APBB1", "organism": "Human", "refseq_name": "amyloid beta precursor protein binding family B member 1 isoform a", "refseq_ac": "NP_001155", "gene_names_uniprotkb": "APBB1; FE65; RIR", "gene_names_refseq": "APBB1; FE65; MGC:9072; RIR", "protein_names_uniprotkb": "Amyloid beta precursor protein binding family B member 1; Amyloid-beta A4 precursor protein-binding family B member 1; Protein Fe65", "protein_names_refseq": "adaptor protein FE65a2; amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65); amyloid beta precursor protein binding family B member 1 isoform a; stat-like protein", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:322); (R-HSA-5693565)", "pathway_count": 2, "publication_count": 124, "publication_id_list": "10550055;10724175;10766245;10802669;10866324;10959836;10973490;11025670;11114888;11237011;11390408;11571274;11573085;11893489;11927591;11934988;12364621;12447390;12485996;12607003;12607005;12697768;12773400;12792649;12832489;12890688;14560035;14697653;15031292;15064416;15201865;15279782;16150728;16377563;16427009;16651405;17512906;17525332;17525340;17553757;17686488;17848578;18001824;18001825;18006705;18077395;18443292;18468999;18550529;18644861;18833287;18922798;19001859;19092802;19117993;19176521;19203578;19203579;19234442;19261749;19343227;19351884;19782031;20016603;20023648;20058876;20351172;21282113;21293379;21824145;22234877;22373579;22508508;22589545;22908299;22980979;24667604;24715725;25342469;25576301;26188042;26992070;27176072;27846572;27862975;27920218;28218747;28657654;28832583;28834231;28963516;29242379;29393594;29437277;29493099;29557506;29632711;29786170;30315122;30429286;31154438;31761772;31844290;31848261;32157095;32502341;32938616;33298915;33592498;33938178;33968037;35051231;35318648;35580925;36010968;36250347;36284347;37918552;37938771;8894693;8944023;9168116;9488723;9799084", "class_list": "", "function": "Alpha-secretase dependent nuclear localization of the amyloid-beta precursor protein-binding protein Fe65 promotes DNA repair., [RefSeq, PubMed]; The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]., [RefSeq]; Transcription coregulator that can have both coactivator and corepressor functions (PubMed:15031292, PubMed:18468999, PubMed:18922798, PubMed:25342469, PubMed:33938178). Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain (PubMed:15031292, PubMed:18468999, PubMed:18922798, PubMed:25342469). Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis (PubMed:15031292, PubMed:18468999, PubMed:18922798, PubMed:25342469). May act by specifically recognizing and binding histone H2AX phosphorylated on 'Tyr-142' (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro-apoptosis factors such as MAPK8/JNK1 (PubMed:19234442). Required for histone H4 acetylation at double-strand breaks (DSBs) (PubMed:19234442). Its ability to specifically bind modified histones and chromatin modifying enzymes such as KAT5/TIP60, probably explains its transcription activation activity (PubMed:33938178). Functions in association with TSHZ3, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4 (PubMed:19343227). Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227). Involved in hippocampal neurite branching and neuromuscular junction formation, as a result plays a role in spatial memory functioning (By similarity). Plays a role in the maintenance of lens transparency (By similarity). May play a role in muscle cell strength (By similarity). Acts as a molecular adapter that functions in neurite outgrowth by activating the RAC1-ARF6 axis upon insulin treatment (PubMed:36250347)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 28, "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": "A1E379;A6NH82;A6NL69;B7Z1J5;B7Z1J6;B7Z2Y0;D3DQT2;Q7Z324;Q96A93;V9GYK0;V9GYT4", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0050750 low-density lipoprotein particle receptor binding;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016607 nuclear speck", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006939 smooth muscle contraction;GO:0007165 signal transduction;GO:0007409 axonogenesis", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "O00213-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P46108-1", "uniprot_id": "CRK_HUMAN", "mass": 33831.0, "length": 304, "protein_name": "Adapter molecule crk", "gene_name": "CRK", "organism": "Human", "refseq_name": "adapter molecule crk isoform b", "refseq_ac": "NP_005197", "gene_names_uniprotkb": "CRK", "gene_names_refseq": "CRKII; CRK; p38", "protein_names_uniprotkb": "Adapter molecule crk; Proto-oncogene c-Crk; p38", "protein_names_refseq": "adapter molecule crk isoform b; adapter molecule crk; proto-oncogene c-Crk; v-crk avian sarcoma virus CT10 oncogene homolog; v-crk sarcoma virus CT10 oncogene-like protein", "tax_id": 9606, "disease": "Dent disease (Disease Ontology:DOID:0050699); X-linked recessive hypophosphatemic rickets (Disease Ontology:DOID:0080353); Dent disease 1 (Disease Ontology:DOID:0081453); X-linked nephrolithiasis type I (Disease Ontology:DOID:0111798); low molecular weight proteinuria with hypercalciuric nephrocalcinosis (Disease Ontology:DOID:0111815); osteopetrosis (Disease Ontology:DOID:13533); renal tubular transport disease (Disease Ontology:DOID:447); degenerative disc disease (Disease Ontology:DOID:90)", "pathway": " (hsa:1398); (R-HSA-170984); (R-HSA-186763); (R-HSA-2029482); (R-HSA-372708); (R-HSA-4420097); (R-HSA-8849471); (R-HSA-8875555); (R-HSA-8875656); (R-HSA-912631); (R-HSA-9664422)", "pathway_count": 11, "publication_count": 258, "publication_id_list": "10.1101/2023.09.13.557529;10037737;10075701;10207622;10219243;10362357;10395673;10496324;10508235;10559936;10579907;10595738;10618718;10677529;10692392;10724160;10733900;10744763;10749680;10753869;10777559;10781580;10871282;10878810;10964504;10995437;11007481;11146548;11157975;11231582;11237011;11276226;11278486;11329366;11340081;11406630;11553796;11695992;11696015;11747816;11804587;11829459;11839772;11854399;11870224;11956190;12006644;12055636;12105426;12134158;12138161;12189515;12198159;12213210;12214271;12215529;12235133;12384576;12391143;12432078;12464388;12585966;12628187;12640026;12660731;12743368;12787671;12810700;12820653;12878163;12881521;12955086;1314164;1314888;1374684;1375321;1396585;14676198;14724572;15026417;15040784;15247219;15308668;15345747;15452139;15572663;15592455;15657136;15688067;15695828;15962004;16076871;16129412;16262445;16267043;16284401;1630456;16308318;16336962;16546099;16581250;16641196;16702231;16760434;16849525;16880808;16966330;17016520;17030947;17038317;17188549;17199126;17202194;17202354;17237347;17293873;17308335;17399949;17515907;17686471;17786281;17875741;18024423;18070890;18374639;18391171;18669648;18829532;19001122;19004829;19230644;19267251;19381274;19415658;19651622;19741094;19807924;19955216;20068231;20534451;20658524;21037092;21419341;21445309;21602891;21664574;21779437;22084245;22223895;22327215;22689825;22848689;23186163;23216836;23443682;23675550;24275569;24518591;2466336;24714562;2472219;2474607;25381819;25576301;25860930;25938342;25956913;26154972;26473374;26656091;27846572;28063628;28832583;29242379;29393594;29508533;29557506;29563135;29632046;29632711;30429286;30779550;30833945;31154438;31311869;31844290;31848261;32157095;32488085;32897882;32938616;32983136;33215807;33592498;33691108;33912179;33981976;34019948;34087483;34185709;34932366;35051231;35580925;36284347;36737758;37085900;38683131;7509446;7537740;7685273;7691811;7692233;7848918;7935391;8194526;8378094;8388543;8443409;8617235;8621540;8626543;8647855;8649368;8649859;8657151;8657152;8662907;8702917;8809042;8875975;8940081;8986718;8995358;9099726;9182576;9200440;9219684;9259313;9302992;9393975;9398617;9407060;9472046;9480911;9484840;9488729;9525940;9546424;9590251;9600938;9614078;9642287;9705280;9739761;9799231;9843499;9883880;9885284", "class_list": "", "function": "CRKL but not CRKII contributes to hemin-induced erythroid differentiation of CML., [RefSeq, PubMed]; Crk proteins activate the Rap1 guanine nucleotide exchange factor C3G by segregated adaptor-dependent and -independent mechanisms. Publication Status: Online-Only, [RefSeq, PubMed]; Gab2 plays a carcinogenic role in ovarian cancer by regulating CrkII. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in cell branching and adhesion mediated by BCAR1-CRK-RAPGEF1 signaling and activation of RAP1., [UniProtKB, PubMed]; Regulates cell adhesion, spreading and migration (PubMed:31311869). Mediates attachment-induced MAPK8 activation, membrane ruffling and cell motility in a Rac-dependent manner. Involved in phagocytosis of apoptotic cells and cell motility via its interaction with DOCK1 and DOCK4 (PubMed:19004829). May regulate the EFNA5-EPHA3 signaling (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a member of an adapter protein family that binds to several tyrosine-phosphorylated proteins. The product of this gene has several SH2 and SH3 domains (src-homology domains) and is involved in several signaling pathways, recruiting cytoplasmic proteins in the vicinity of tyrosine kinase through SH2-phosphotyrosine interaction. The N-terminal SH2 domain of this protein functions as a positive regulator of transformation whereas the C-terminal SH3 domain functions as a negative regulator of transformation. Two alternative transcripts encoding different isoforms with distinct biological activity 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": 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": 4, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MWE8;B0LPE8;D3DTH6;Q96GA9;Q96HJ0", "ec_number_list": "", "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0017124 SH3 domain binding;GO:0005159 insulin-like growth factor receptor binding;GO:0031625 ubiquitin protein ligase binding;GO:0019900 kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0035728 response to hepatocyte growth factor;GO:0061847 response to cholecystokinin;GO:1990859 cellular response to endothelin;GO:0001878 response to yeast;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 26.3, "record_id": "P46108-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P21860-1", "uniprot_id": "ERBB3_HUMAN", "mass": 148098.0, "length": 1342, "protein_name": "Receptor tyrosine-protein kinase erbB-3", "gene_name": "ERBB3", "organism": "Human", "refseq_name": "receptor tyrosine-protein kinase erbB-3 isoform s precursor", "refseq_ac": "NP_001005915", "gene_names_uniprotkb": "ERBB3; HER3", "gene_names_refseq": "ERBB3; ErbB-3; FERLK; HER3; LCCS2; MDA-BF-1; VSCN1; c-erbB-3; c-erbB3; erbB3-S; p180-ErbB3; p45-sErbB3; p85-sErbB3", "protein_names_uniprotkb": "Receptor tyrosine-protein kinase erbB-3; 2.7.10.1; Proto-oncogene-like protein c-ErbB-3; Tyrosine kinase-type cell surface receptor HER3", "protein_names_refseq": "human epidermal growth factor receptor 3; proto-oncogene-like protein c-ErbB-3; receptor tyrosine-protein kinase erbB-3 isoform s precursor; receptor tyrosine-protein kinase erbB-3; tyrosine kinase-type cell surface receptor HER3; v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); ductal carcinoma in situ (Disease Ontology:DOID:0060074); lethal congenital contracture syndrome 2 (Disease Ontology:DOID:0060560); neuronal intestinal dysplasia type A (Disease Ontology:DOID:0080679); intestinal cancer (Disease Ontology:DOID:10155); prostate cancer (Disease Ontology:DOID:10283); amblyopia (Disease Ontology:DOID:10376); urinary bladder cancer (Disease Ontology:DOID:11054); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); transitional cell carcinoma (Disease Ontology:DOID:2671); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); carcinoma (Disease Ontology:DOID:305); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); stomach carcinoma (Disease Ontology:DOID:5517); median neuropathy (Disease Ontology:DOID:571); hepatocellular carcinoma (Disease Ontology:DOID:684); nasopharynx carcinoma (Disease Ontology:DOID:9261); erythroleukemia, familial, susceptibility to (MONDO:MONDO:0007573)", "pathway": " (hsa:2065)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11325528;11546794;12154198;12824184;12939402;15358134;16273093;16729043;16832058;17344846;17389395;17701904;18682844;18691976;18700973;20007378;20351256;20682778;21575594;2164210;23090970;23186163;23342251;23866081;24044505;24190977;24275569;25367220;25576301;25645385;25849870;25949874;26095475;26148232;26208478;26287187;26538233;26735176;2687875;26934000;26942872;27416908;27514687;27531070;27600516;27768588;28114269;29371260;29557506;29712619;29741879;29786170;31154438;31844290;32157095;32350084;32488085;32815546;32938616;33091337;33497358;33537174;33592498;33888713;33912179;33968037;34185709;34785506;35051231;35251023;35580925;36010968;37074911;38092140;38276060;38441358;38751013;39313574;7685162;7929151;9516479;9694850", "class_list": "", "function": "CD44s and CD44v8-10 isoforms confer acquired resistance to osimertinib by activating the ErbB3/STAT3 signaling pathway., [RefSeq, PubMed]; Deciphering the Role of ERBB3 Isoforms in Renal Cell Carcinoma: A Comprehensive Genomic and Transcriptomic Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; HER3 V104 mutations regulate cell signaling, growth, and drug sensitivity in cancer., [RefSeq, PubMed]; SON is an essential RNA splicing factor promoting ErbB2 and ErbB3 expression in breast cancer., [RefSeq, PubMed]; Targeting HER2/HER3 co-mutations in metastatic breast cancer: Case reports of exceptional responders to trastuzumab and pertuzumab therapy., [RefSeq, PubMed]; This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase (PubMed:20682778). May also be activated by CSPG5 (PubMed:15358134). Involved in the regulation of myeloid cell differentiation (PubMed:27416908)., [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": 10, "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": 10, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 154, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 22, "disease_count": 23, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A8K6L6;B4DIK7;B4DV32;E9PDT8;Q9BUD7", "ec_number_list": "2.7.12.2;2.7.10.1;2.7.10.2;2.7.11.1;2.7.12.1;2.7.1.40;2.7.1.32;2.7.1.82;2.7.10.4;2.7.11.13;2.7.11.23", "go_molecular_function": "GO:0038131 neuregulin receptor activity;GO:0038132 neuregulin binding;GO:0004672 protein kinase activity;GO:0004888 transmembrane signaling receptor activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0043235 receptor complex;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0021545 cranial nerve development;GO:0007162 negative regulation of cell adhesion;GO:0007165 signal transduction;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007507 heart development", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "P21860-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P46089-1", "uniprot_id": "GPR3_HUMAN", "mass": 35010.0, "length": 330, "protein_name": "G protein-coupled receptor 3", "gene_name": "GPR3", "organism": "Human", "refseq_name": "G-protein coupled receptor 3", "refseq_ac": "NP_005272", "gene_names_uniprotkb": "GPR3; ACCA", "gene_names_refseq": "ACCA; GPR3", "protein_names_uniprotkb": "G protein-coupled receptor 3; ACCA orphan receptor", "protein_names_refseq": "ACCA orphan receptor; G-protein coupled receptor 3; adenylate cyclase constitutive activator", "tax_id": 9606, "disease": "", "pathway": " (hsa:2827)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "12220620;19213921;19286662;29557506;30038319;31516076;31844290;32157095;32357974;32938616;33298915;33968037;34048700;34302056;34357683;35051231;37919810;38287117;38287118;38376112;40866348;7639700;7698767;7851889;8530049", "class_list": "", "function": "Constitutively active G protein-coupled receptor that maintains high cAMP levels and contributes to several processes, including meiotic arrest in oocytes and neuronal development, through activation of intracellular signaling pathways. Essential activator of thermogenic adipocytes, where it drives thermogenesis via constitutive G(s)-coupling activity in the absence of ligand (PubMed:34048700). May be activated by lipid-derived agonists such as oleoylethanolamide (OEA), oleic acid or sphingosine 1-phosphate leading to activation of the G(s)/cAMP/PKA signaling pathway (PubMed:12220620, PubMed:38376112, PubMed:38287117). Plays a potential role in modulating brain functions, including behavioral responses to stress and amyloid-beta peptide generation in neurons (By similarity). Stimulates neurite outgrowth in cerebellar granule neurons via PKA, ERK, and PI3K-mediated signaling pathways (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Development of a High-Throughput Screening-Compatible Assay for Discovery of GPR3 Inverse Agonists Using a cAMP Biosensor., [RefSeq, PubMed]; Lipolysis drives expression of the constitutively active receptor GPR3 to induce adipose thermogenesis., [RefSeq, PubMed]; Rare variants in GPR3 in POI patients: a case series with review of literature. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Silencing the G-protein coupled receptor 3-salt inducible kinase 2 pathway promotes human beta cell proliferation. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest an important role of the allosteric sodium binding site for GPR3 activity and open a possible avenue for the modulation of Abeta production in the Alzheimer's Disease. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the G protein-coupled receptor family and is found in the cell membrane. G protein-coupled receptors, characterized by a seven transmembrane domain motif, are involved in translating outside signals into G protein mediated intracellular effects. The encoded protein activates adenylate cyclase and modulates amyloid-beta production in a mouse model, suggesting that it may play a role in Alzheimer's disease. [provided by RefSeq, Oct 2012]., [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": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 3, "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": "A8K570", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0038036 sphingosine-1-phosphate receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0120162 positive regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P46089-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q08379-1", "uniprot_id": "GOGA2_HUMAN", "mass": 113086.0, "length": 1002, "protein_name": "Golgin subfamily A member 2", "gene_name": "GOLGA2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "GOLGA2", "gene_names_refseq": "", "protein_names_uniprotkb": "Golgin subfamily A member 2; 130 kDa cis-Golgi matrix protein; GM130 autoantigen; GM130; Golgin-95", "protein_names_refseq": "", "tax_id": 9606, "disease": "developmental delay with hypotonia, myopathy, and brain abnormalities (MONDO:MONDO:0859375)", "pathway": " (hsa:2801); (R-HSA-162658); (R-HSA-204005); (R-HSA-6807878); (R-HSA-8862803)", "pathway_count": 5, "publication_count": 249, "publication_id_list": "10052452;10318838;10445031;10559959;10604467;10639123;10679020;10747087;10761932;10769027;10788476;10825291;10830966;10903204;10921873;10982397;11035026;11035033;11172815;11237011;11238451;11285137;11306556;11408587;11447294;11461920;11689559;11703931;11726511;11739401;11748249;11781572;11853546;11927603;12047556;12070132;12235121;12388752;12634853;12695496;12839990;14654841;14742712;15003503;15037235;15590058;15616190;15632110;15678101;15728195;15813748;15878873;16030262;16303754;1631136;16489344;16495487;16533948;16624868;16633337;16723730;1680566;16912714;16926190;16940185;16964243;17005010;17038314;17081983;17182854;17192411;17253781;17274799;17287728;17314401;17316621;17360540;17429068;17451557;17562788;17684057;17760859;17927562;17956946;18045989;18077418;18086915;18167358;18182008;18283113;18323775;18385516;18434598;18491316;18524849;18669648;18691386;18691976;18809720;18843296;1898986;19007248;19015319;1902553;19109418;19109421;19164740;19242490;19296914;1957170;19631211;19638414;19651986;19656848;19691289;19758564;20068231;20083603;20214750;20357002;20421892;20427317;20545907;20637885;20679433;20937827;20966969;21219331;21478858;21532587;21689688;21844168;22013193;22094269;22157747;22304919;22675024;22726585;22899714;23186163;23301498;23378591;23479643;23481700;23698585;23839779;23864707;24119662;24275569;24715725;24806965;24917561;25202031;25406594;25436559;25492864;25576301;25586378;25619252;25880248;26154972;26165940;26363069;26742501;26992070;27600516;27893789;27920218;28218747;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632711;29786170;30192525;30237576;30315122;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33465208;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34360932;34424553;34509645;34725712;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36241641;36284347;37217939;37938771;38665916;7691276;7698360;7737117;8001155;8128252;8132710;8221884;8253837;8315394;8505331;8620540;8636227;8663406;8991093;9094723;9114004;9150144;9177194;9228946;9244307;9288971;9307973;9323141;9380700;9382863;9405360;9490716;9647643;9671725;9751720;9753325;9990005", "class_list": "", "function": "Peripheral membrane component of the cis-Golgi stack that acts as a membrane skeleton that maintains the structure of the Golgi apparatus, and as a vesicle thether that facilitates vesicle fusion to the Golgi membrane (Probable) (PubMed:16489344). Required for normal protein transport from the endoplasmic reticulum to the Golgi apparatus and the cell membrane (By similarity). Together with p115/USO1 and STX5, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus. Plays a central role in mitotic Golgi disassembly: phosphorylation at Ser-37 by CDK1 at the onset of mitosis inhibits the interaction with p115/USO1, preventing tethering of COPI vesicles and thereby inhibiting transport through the Golgi apparatus during mitosis (By similarity). Also plays a key role in spindle pole assembly and centrosome organization (PubMed:26165940). Promotes the mitotic spindle pole assembly by activating the spindle assembly factor TPX2 to nucleate microtubules around the Golgi and capture them to couple mitotic membranes to the spindle: upon phosphorylation at the onset of mitosis, GOLGA2 interacts with importin-alpha via the nuclear localization signal region, leading to recruit importin-alpha to the Golgi membranes and liberate the spindle assembly factor TPX2 from importin-alpha. TPX2 then activates AURKA kinase and stimulates local microtubule nucleation. Upon filament assembly, nascent microtubules are further captured by GOLGA2, thus linking Golgi membranes to the spindle (PubMed:19242490, PubMed:26165940). Regulates the meiotic spindle pole assembly, probably via the same mechanism (By similarity). Also regulates the centrosome organization (PubMed:18045989, PubMed:19109421). Also required for the Golgi ribbon formation and glycosylation of membrane and secretory proteins (PubMed:16489344, PubMed:17314401)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, 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": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 7, "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": "A0A0C4DGS5;Q6GRM9;Q9BRB0;Q9NYF9", "ec_number_list": "", "go_molecular_function": "GO:0061676 importin-alpha family protein binding;GO:0008017 microtubule binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0000922 spindle pole;GO:0005794 Golgi apparatus;GO:0005874 microtubule;GO:0030134 COPII-coated ER to Golgi transport vesicle", "go_biological_process": "GO:0015031 protein transport;GO:0051289 protein homotetramerization;GO:0090307 mitotic spindle assembly;GO:0009101 glycoprotein biosynthetic process;GO:0032091 negative regulation of protein binding", "synthesized_glycan_count": 0, "hit_score": 25.2, "record_id": "Q08379-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61457-1", "uniprot_id": "PHS_HUMAN", "mass": 12000.0, "length": 104, "protein_name": "Pterin-4-alpha-carbinolamine dehydratase", "gene_name": "PCBD1", "organism": "Human", "refseq_name": "pterin-4-alpha-carbinolamine dehydratase isoform 1", "refseq_ac": "NP_000272", "gene_names_uniprotkb": "PCBD1; DCOH; PCBD", "gene_names_refseq": "DCOH; PCBD1; PCBD; PCD; PHS", "protein_names_uniprotkb": "Pterin-4-alpha-carbinolamine dehydratase; 4-alpha-hydroxy-tetrahydropterin dehydratase; 4.2.1.96; DCoH; Dimerization cofactor of HNF1; Dimerization cofactor of hepatocyte nuclear factor 1-alpha; PCD; PHS; Phenylalanine hydroxylase-stimulating protein; Pterin carbinolamine dehydratase", "protein_names_refseq": "4-alpha-hydroxy-tetrahydropterin dehydratase; 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1); dimerizing cofactor for HNF1; phenylalanine hydroxylase-stimulating protein; pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha; pterin-4-alpha-carbinolamine dehydratase isoform 1", "tax_id": 9606, "disease": "BH4-deficient hyperphenylalaninemia D (Disease Ontology:DOID:0081131)", "pathway": " (hsa:5092); (R-HSA-8964208)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10098606;15364907;17356132;1763325;19338303;19839645;20068231;22424782;22861376;22891768;24204001;24768817;25505266;25576301;25645385;26154972;27846572;27862975;29557506;3033643;30429286;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33392160;33592498;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34405274;34509645;34561969;35051231;35251023;35580925;36010968;36215666;36241641;37938771;7744010;7763270;7883047;8262916;8294935;8352282;8444860;8618906;8889590;9092652;9585615;9642259;9760199", "class_list": "", "function": "Involved in tetrahydrobiopterin biosynthesis (By similarity). Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription (By similarity). Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity (By similarity). Also acts as a coactivator for HNF1B-dependent transcription (PubMed:24204001)., [UniProtKB, UniProtKB, PubMed]; Pcbd1 is a moonlighting protein that has dehydratase activity in addition to functioning as a cofactor which regulates HNF1alpha., [RefSeq, PubMed]; This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 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": 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": "P70519;P80095;Q9D930", "ec_number_list": "4.2.1.96", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0042802 identical protein binding;GO:0008124 4-alpha-hydroxytetrahydrobiopterin dehydratase activity;GO:0004505 phenylalanine 4-monooxygenase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006729 tetrahydrobiopterin biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "P61457-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P11766-1", "uniprot_id": "ADHX_HUMAN", "mass": 39724.0, "length": 374, "protein_name": "Alcohol dehydrogenase class-3", "gene_name": "ADH5", "organism": "Human", "refseq_name": "alcohol dehydrogenase class-3", "refseq_ac": "NP_000662", "gene_names_uniprotkb": "ADH5; ADHX; FDH", "gene_names_refseq": "ADH-3; ADH5; ADHX; AMEDS; BMFS7; FALDH; FDH; GSH-FDH; GSNOR; HEL-S-60p", "protein_names_uniprotkb": "Alcohol dehydrogenase class-3; 1.1.1.-; 1.1.1.1; 1.1.1.284; Alcohol dehydrogenase 5; Alcohol dehydrogenase class chi chain; Alcohol dehydrogenase class-III; FALDH; FDH; GSH-FDH; Glutathione-dependent formaldehyde dehydrogenase; S-(hydroxymethyl)glutathione dehydrogenase", "protein_names_refseq": "S-(hydroxymethyl)glutathione dehydrogenase; S-nitrosoglutathione reductase; alcohol dehydrogenase (class III), chi polypeptide; alcohol dehydrogenase class chi chain; alcohol dehydrogenase class-3; alcohol dehydrogenase class-III; epididymis secretory sperm binding protein Li 60p; formaldehyde dehydrogenase; glutathione-dependent formaldehyde dehydrogenase", "tax_id": 9606, "disease": "AMED syndrome (Disease Ontology:DOID:0080952); cholestasis (Disease Ontology:DOID:13580); alcohol use disorder (Disease Ontology:DOID:1574); asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:128); (R-HSA-71384)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10441588;10631996;10697413;10843999;11237011;1446828;16081420;16788062;1755855;18196;1985938;20058876;20068231;20616185;224930;23186163;23301498;24275569;24397554;2679557;26811146;26992070;270680;27846572;2818582;28467828;28510447;28904123;29437277;29493099;29557506;30315122;30379171;30410026;30573663;31844290;31998317;32157095;32161166;32350084;32357974;32387766;32488085;3278908;32938616;33141586;33214551;33298915;33355142;33392160;33512438;33592498;3365377;33912179;33968037;33981976;34019948;34171305;34219079;34229054;34725712;35051231;35138101;35251023;35580925;36284347;36656716;37615925;38665916;4065146;427099;4504607;4748759;6395883;8074657;8460164;8494891;9018047;9982", "class_list": "", "function": "Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency., [RefSeq, PubMed]; Catalyzes the oxidation of long-chain primary alcohols and the oxidation of S-(hydroxymethyl) glutathione (PubMed:8460164). Also oxidizes long chain omega-hydroxy fatty acids, such as 20-HETE, producing both the intermediate aldehyde, 20-oxoarachidonate and the end product, a dicarboxylic acid, (5Z,8Z,11Z,14Z)-eicosatetraenedioate (PubMed:16081420). Class-III ADH is remarkably ineffective in oxidizing ethanol (PubMed:8460164). Required for clearance of cellular formaldehyde, a cytotoxic and carcinogenic metabolite that induces DNA damage (PubMed:33355142). Also acts as a S-nitroso-glutathione reductase by catalyzing the NADH-dependent reduction of S-nitrosoglutathione, thereby regulating protein S-nitrosylation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Effects of the major formaldehyde catalyzer ADH5 on phenotypes of fanconi anemia zebrafish model., [RefSeq, PubMed]; GSNOR deficiency promotes tumor growth via FAK1 S-nitrosylation., [RefSeq, PubMed]; This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]., [RefSeq]; [Aldehyde degradation deficiency (ADD) syndrome: discovery of a novel fanconi anemia-like inherited BMF syndrome due to combined ADH5/ALDH2 deficiency]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6FHR2", "ec_number_list": "1.1.1.1;1.1.1.105;1.1.1.-;1.1.1.284;1.1.1.66", "go_molecular_function": "GO:0004022 alcohol dehydrogenase (NAD+) activity;GO:0005504 fatty acid binding;GO:0008270 zinc ion binding;GO:0009055 electron transfer activity;GO:0018467 formaldehyde dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0046294 formaldehyde catabolic process;GO:0051775 response to redox state;GO:0010430 fatty acid omega-oxidation", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P11766-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94973-1", "uniprot_id": "AP2A2_HUMAN", "mass": 103960.0, "length": 939, "protein_name": "AP-2 complex subunit alpha-2", "gene_name": "AP2A2", "organism": "Human", "refseq_name": "AP-2 complex subunit alpha-2 isoform 1", "refseq_ac": "NP_001229766", "gene_names_uniprotkb": "AP2A2; ADTAB; CLAPA2; HIP9; HYPJ; KIAA0899", "gene_names_refseq": "ADTAB; AP2A2; CLAPA2; HIP-9; HIP9; HYPJ", "protein_names_uniprotkb": "AP-2 complex subunit alpha-2; 100 kDa coated vesicle protein C; Adaptor protein complex AP-2 subunit alpha-2; Adaptor-related protein complex 2 subunit alpha-2; Alpha-adaptin C; Alpha2-adaptin; Clathrin assembly protein complex 2 alpha-C large chain; HIP-9; Huntingtin yeast partner J; Huntingtin-interacting protein 9; Huntingtin-interacting protein J; Plasma membrane adaptor HA2/AP2 adaptin alpha C subunit", "protein_names_refseq": "100 kDa coated vesicle protein C; AP-2 complex subunit alpha-2 isoform 1; AP-2 complex subunit alpha-2; Huntingtin interacting protein J; adapter-related protein complex 2 subunit alpha-2; adaptin, alpha B; adaptor related protein complex 2 alpha 2 subunit; alpha-adaptin C; alpha2-adaptin; clathrin assembly protein complex 2 alpha-C large chain; clathrin-associated/assembly/adaptor protein, large, alpha 2; huntingtin yeast partner J; huntingtin-interacting protein 9; plasma membrane adaptor HA2/AP2 adaptin alpha C subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:161); (R-HSA-167590); (R-HSA-177504); (R-HSA-182218); (R-HSA-2132295); (R-HSA-3928665); (R-HSA-437239); (R-HSA-5099900); (R-HSA-5140745); (R-HSA-6798695); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8866427); (R-HSA-8964038); (R-HSA-9679191); (R-HSA-9918485)", "pathway_count": 16, "publication_count": 441, "publication_id_list": "10.1101/2023.09.13.557529;10036229;10064083;10072072;10087012;10097102;10224102;10436022;10438503;10480952;10535736;10540230;10542231;10559856;10559861;10559924;10567358;10593899;10608864;10613896;10625686;10631941;10631952;10639150;10747093;10748235;10766823;10769163;10804209;10809954;10818153;10983987;11071885;11076969;11082044;11157096;11231140;11237011;11239472;11247302;11337487;11448999;11454741;11470803;11516654;11517213;11529500;11532990;11577110;11584272;11588219;11684289;11790530;11813165;11853874;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12078484;12082080;12086608;12198549;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12464675;12682107;12717448;12742663;12748383;12847086;12942088;12944396;12952949;12958364;12960147;12973357;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;14731593;14745134;15098107;15134832;15166224;15202998;15252009;15260957;15265030;15318165;15339664;15351694;1535555;15473838;15502812;15502813;15507651;15598649;15649145;15671180;15703209;15728179;15749704;15802264;15838506;15848800;15895077;15911768;15916959;16103193;16103228;16115318;16159959;16179341;16181339;16215232;16242130;16326391;16330023;16410077;16459302;16460808;16511561;16516836;16522641;16618111;16707488;16723738;16798879;16824007;16880396;16903783;17018281;17018531;17035995;17117926;17142755;17158794;1718995;17199046;17267500;17283181;17360967;17428795;17452316;17456551;17494869;17512409;17522231;17540576;17609109;17662961;17681954;17713526;17762867;17765681;17978091;18032517;18039658;18046453;18093523;18166656;18199683;18266465;18292509;18388313;18478542;1847920;18644789;18713744;18772377;18775314;18782767;18790740;18819912;18981233;19033387;19092055;19140243;19141679;19196236;19278660;19287005;19296720;19458185;19520913;19536138;19563754;1956401;19564404;19575674;19582886;19592704;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;19910923;20033059;20059951;20068231;2014052;20211604;20223979;20231386;20351096;20427281;20428113;20448150;20496116;20826345;20946875;20947020;20947831;21102408;21116285;2115402;21187331;2121367;21273557;21278753;21316588;21441454;21445324;21482805;21499258;21613550;21734303;21779028;21841790;21883765;2190094;21927000;21927001;21962517;21995445;22099461;22101459;22118466;22121020;221835;22233676;22262466;22357968;22401777;22424782;22484487;22505844;22510808;22552008;2257624;22764087;22814904;22815487;22863004;22936343;22942912;23084921;23297414;23481700;23536704;23641311;23650620;23658209;23676497;23823722;23861397;23891661;2391366;24074594;24097348;24130457;24186068;24272870;24384571;2448316;24581490;24584101;24680432;24714562;24746795;24789820;24868095;24966051;25107275;25303366;25341920;25418920;25502872;25699256;25801024;25880248;25915661;26002965;26042225;26056282;26212330;26403691;26468529;26474739;26811146;26829388;26992070;2722848;27452731;27832191;27862975;28218747;28228285;28425720;28514659;28832583;28834231;28904123;2890644;29242379;29262337;29393594;29437277;29508533;29557506;29610346;29632046;29632711;29742433;29786170;29945920;30201761;30410026;31048504;31217245;31720911;31844290;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33214551;33592498;33717175;33866776;33912179;33936100;33968037;33981976;34019948;34087483;34171305;3417785;34185709;34357683;34509645;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;37217939;38772452;40914422;6146630;7481823;7493978;7569928;7592972;7650016;7667286;7822302;7877694;8046351;8049197;8112342;8134367;8145819;8146180;8148318;8313912;8397411;8407899;8415765;8524399;8552632;8553074;8642258;8687433;8692836;8837779;8849454;8909537;8939989;8947036;9075930;9092476;9100026;9169477;9202021;9303539;9311912;9312039;9427626;9428629;9497313;9539769;9545226;9606180;9635431;9651214;9700202;9705237;9721721;9723620;9736607;9756920;9812899;9931503", "class_list": "", "function": "AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia., [RefSeq, PubMed]; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a subunit of the AP-2 adaptor protein complex, which is involved in linking lipid and protein membrane components with the clathrin lattice. This interaction supports the formation of clathrin-coated vesicles, and the encoded subunit aids in the process by binding polyphosphoinositide-containing lipids in the cell membrane. [provided by RefSeq, Nov 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": 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": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O75403;Q53ET1;Q96SI8", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0008289 lipid binding;GO:0097718 disordered domain specific binding;GO:0035615 clathrin adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030666 endocytic vesicle membrane;GO:0030667 secretory granule membrane;GO:0030669 clathrin-coated endocytic vesicle membrane", "go_biological_process": "GO:0098884 postsynaptic neurotransmitter receptor internalization;GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:0072583 clathrin-dependent endocytosis;GO:0048488 synaptic vesicle endocytosis", "synthesized_glycan_count": 0, "hit_score": 44.6, "record_id": "O94973-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15637-1", "uniprot_id": "SF01_HUMAN", "mass": 68330.0, "length": 639, "protein_name": "Splicing factor 1", "gene_name": "SF1", "organism": "Human", "refseq_name": "splicing factor 1 isoform 6", "refseq_ac": "NP_001171501", "gene_names_uniprotkb": "SF1; ZFM1; ZNF162", "gene_names_refseq": "BBP; D11S636; MBBP; SF1; ZCCHC25; ZFM1; ZNF162", "protein_names_uniprotkb": "Splicing factor 1; BBP; Mammalian branch point-binding protein; Transcription factor ZFM1; Zinc finger gene in MEN1 locus; Zinc finger protein 162; mBBP", "protein_names_refseq": "branch point-binding protein; mammalian branch point-binding protein; splicing factor 1 isoform 6; transcription factor ZFM1; zinc finger gene in MEN1 locus; zinc finger protein 162", "tax_id": 9606, "disease": "ischemia (Disease Ontology:DOID:326)", "pathway": " (hsa:7536); (R-HSA-72163)", "pathway_count": 2, "publication_count": 214, "publication_id_list": "10449420;10882114;11014198;11101529;11233976;11237011;11691992;11991638;12176931;12411573;12414731;12477934;12718882;14625303;14713954;15118850;16314458;16420481;16809785;16964243;17081983;17095540;17287340;17322306;17332742;17589525;17606899;18212344;18220336;18322460;18452278;18593880;18669648;19103666;19165350;19413330;19415658;19536130;19651622;19664994;19664995;19690332;20068231;20166139;20305658;20423332;20980672;21406692;21536652;21740066;2176635;22110043;22121020;22223895;22365833;22959432;22961380;23175611;23186163;23222130;23236153;23301498;23345524;23481700;24029068;24129315;24196718;24275569;24304693;24366607;24448447;24715725;24737827;24914973;25505266;25555158;25576301;2558966;25645385;25880248;25892735;26154972;26375851;26385511;26420826;26811146;26969736;26992070;27377154;27459055;27600516;27655845;27683217;27846572;27920218;28062851;28063628;28076346;28228285;28502770;28510447;28514659;28604694;28649982;28657654;28781166;28832583;28834231;28904123;29237092;29242379;29301961;29351928;29360106;29361316;29393594;29485866;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29789417;30059200;30315122;30315277;30429286;30620550;30705154;30728453;30765414;30975767;31092671;31154438;31217245;31409651;31492838;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32870666;32938616;32983136;33214551;33243851;33298915;33446560;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34229054;34301950;34725712;34822310;34846842;34932366;35051231;35132862;35138101;35154160;35254053;35289036;35318648;35385551;35580925;36010968;36173164;36241641;36284347;37217939;37340703;37541260;3757028;37938771;38665916;39531497;39534244;40596516;7912130;8566756;8608946;8752089;9016565;9192847;9242493;9512519;9524131;9539711;9573336;9660765;9671485;9701291;9731529", "class_list": "", "function": "Necessary for the ATP-dependent first step of spliceosome assembly. Binds to the intron branch point sequence (BPS) 5'-UACUAAC-3' of the pre-mRNA. May act as transcription repressor., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Necessary for the splicing of pre-mRNA. Has a role in the recognition of the branch site (5'-UACUAAC-3'), the pyrimidine tract and the 3'-splice site at the 3'-end of introns., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Structural basis for the interaction between the first SURP domain of the SF3A1 subunit in U2 snRNP and the human splicing factor SF1., [RefSeq, PubMed]; This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3' splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages of spliceosome assembly. It also plays a role in nuclear pre-mRNA retention and transcriptional repression. The encoded protein contains an N-terminal U2AF ligand motif, a central hnRNP K homology motif and quaking 2 region which bind a key branch-site adenosine within the branch point sequence, a zinc knuckles domain, and a C-terminal proline-rich domain. Alternative splicing results in multiple transcript variants. [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": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B7Z1Q1;C9JJE2;Q14818;Q14819;Q15913;Q8IY00;Q92744;Q92745;Q969H7;Q9BW01;Q9UEI0", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005681 spliceosomal complex;GO:0005840 ribosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0000398 mRNA splicing, via spliceosome;GO:0000245 spliceosomal complex assembly;GO:0045292 mRNA cis splicing, via spliceosome;GO:0000389 mRNA 3'-splice site recognition", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "Q15637-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P06241-1", "uniprot_id": "FYN_HUMAN", "mass": 60762.0, "length": 537, "protein_name": "Tyrosine-protein kinase Fyn", "gene_name": "FYN", "organism": "Human", "refseq_name": "tyrosine-protein kinase Fyn isoform a", "refseq_ac": "NP_002028", "gene_names_uniprotkb": "FYN", "gene_names_refseq": "FYN; SLK; SYN; p59-FYN", "protein_names_uniprotkb": "Tyrosine-protein kinase Fyn; 2.7.10.2; Proto-oncogene Syn; Proto-oncogene c-Fyn; SLK; Src-like kinase; p59-Fyn", "protein_names_refseq": "FYN oncogene related to SRC, FGR, YES; OKT3-induced calcium influx regulator; c-syn protooncogene; proto-oncogene Syn; proto-oncogene c-Fyn; src-like kinase; src/yes-related novel; tyrosine kinase p59fyn(T); tyrosine-protein kinase Fyn isoform a; tyrosine-protein kinase Fyn", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); intestinal cancer (Disease Ontology:DOID:10155); Alzheimer's disease (Disease Ontology:DOID:10652); asthma (Disease Ontology:DOID:2841); Goldenhar syndrome (Disease Ontology:DOID:2907); skin squamous cell carcinoma (Disease Ontology:DOID:3151); temporal lobe epilepsy (Disease Ontology:DOID:3328); skin disease (Disease Ontology:DOID:37); schizophrenia (Disease Ontology:DOID:5419); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:2534); (R-HSA-114604); (R-HSA-1227986); (R-HSA-1257604); (R-HSA-1433557); (R-HSA-1433559); (R-HSA-164944); (R-HSA-202733); (R-HSA-2029481); (R-HSA-210990); (R-HSA-2219530); (R-HSA-2424491); (R-HSA-2682334); (R-HSA-2730905); (R-HSA-373753); (R-HSA-375165); (R-HSA-389356); (R-HSA-389357); (R-HSA-389359); (R-HSA-389513); (R-HSA-3928662); (R-HSA-3928663); (R-HSA-3928664); (R-HSA-3928665); (R-HSA-399954); (R-HSA-399955); (R-HSA-399956); (R-HSA-4420097); (R-HSA-5621480); (R-HSA-5621575); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-75892); (R-HSA-8866376); (R-HSA-912631); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9670439); (R-HSA-9680350); (R-HSA-9706374); (R-HSA-983695); (R-HSA-9856530)", "pathway_count": 42, "publication_count": 899, "publication_id_list": "10021361;10026222;10037737;10047984;10051622;10068651;10072481;10075701;10191262;10196263;10207622;10219243;10224278;10350061;10358045;10374881;10376603;10377264;10393930;10395673;10397721;10425179;10432293;10469124;10498607;10498895;10508167;10523831;10523834;10541305;10544125;10556826;10559936;10571241;10579907;10606205;10607567;10611248;10618429;10639123;10648173;10649434;10677529;10679268;10679438;10692392;10694513;10706702;10721994;10724160;10744696;10744763;10749680;10764623;10764742;10769020;10770799;10790433;10799894;1081164;10811803;10848605;10849438;10858437;10861086;10869344;10878805;10880360;10884405;10934324;10983984;10995436;10995437;11005864;11007481;11017109;11027663;11042164;11048639;11058585;11070003;11071869;11071886;11090077;11094073;11110698;11134074;11136978;11147812;11160719;11162638;11179879;11207550;11226282;11237011;11256994;11262396;11276226;11278486;11313946;11340081;11368773;11369651;11390650;11395417;11448999;11449366;11481033;11494148;11518702;11520784;11536198;11546808;11557983;11562357;11564780;11580899;11604131;11606584;11695992;11696015;11702783;11707405;11733557;11747816;11779189;11780069;11803464;11804587;11809791;11812992;11853546;11854399;11901194;11907067;11909947;11943772;11968001;11976720;11983165;11983687;11994459;11994499;12032311;12062105;12070135;12084815;12093729;12094235;12117970;12121613;12134158;12138205;12167717;12176338;12181444;12192036;12208882;12214271;12215529;12218089;12372285;12391143;12417718;12422220;12444928;12446734;12453414;12456653;12456660;12464388;12469115;12471105;12475982;12481435;12495863;12511554;12515809;12545174;12546821;12573241;12628924;12651161;12660326;12660731;12668668;12670391;12670394;12676796;12695502;12700044;12702722;12724311;12767043;12782713;12788081;12810700;12813055;12820653;12824176;12832405;12846735;12865409;12876557;12878163;12881521;12882960;12911816;12973357;1314888;1325671;1334462;1371879;1372004;1372019;1374290;1375232;1375264;1376928;1381360;14506247;14529530;14570703;14615387;14633607;14656219;14685275;14695343;14707117;14707138;14724572;14737186;14757743;14761972;14988728;15000751;15007386;15010370;15026417;15039213;15142525;15143187;15161916;15184383;15187135;15247219;15304325;15308668;15331416;1533589;15351694;15356145;15365099;15378065;15452139;1545823;15489916;1550550;15509800;15520807;15526160;15528364;15536084;15536091;15537652;15545998;15546878;15548136;15557120;15568014;15579503;15623578;15634346;15643424;15652488;15676027;15681301;15688067;15695828;15708849;15713798;15718470;15721239;15721307;15790786;15800193;15834429;15843475;15848799;15848800;15879134;15886116;1591491;15962004;15994232;1599430;16102042;16129412;16135789;16174766;16188233;16188976;16258728;16282498;16286926;16297198;16298995;16336962;16339315;16387660;16397263;16434485;16456001;16456541;16483568;16497976;16511561;16525419;16529723;16543952;16546099;16551244;16585556;16627759;16630808;16647110;16684964;16691243;16707477;16737840;16760434;16780420;16780920;16783819;16818765;16841086;16849466;16873377;1688559;16906149;16908864;16921024;16930978;16938345;16966330;16978839;16979207;1699196;1702903;17030621;17030947;17050534;1705565;17064312;1706616;17099249;17116209;1716764;17167768;17172599;17194753;17199126;17200115;17202354;1721591;1722201;17224452;17237347;17255936;17293873;17308335;17310244;17322099;17322526;17344430;17344846;17350651;17379836;17428795;17440041;17442946;17452328;17452516;17452978;17462920;17486119;17505016;17525755;17546049;17548511;17563375;17580308;17600130;17607942;17607944;17615384;17616532;17625065;17626883;17662946;17668209;17686471;17893108;17904548;17923684;17925405;17928214;17993265;17998941;18006696;18025150;18033240;18052078;18056706;18070890;18079394;18083107;18088087;18187424;18258597;18295596;18317450;18326500;18374639;18385332;18420269;18439422;18467591;18490740;18588518;18589439;18594509;18596693;18606717;18669648;18691974;18691976;18697750;18710921;18713744;18721752;1874735;18754654;18755892;18775330;18776906;18818202;18829560;18843204;18925875;18955485;1898771;18995841;19007248;19020623;19054851;19122653;19179337;19185485;19197368;19206206;19230644;19249086;19265199;19267251;19279206;19279408;19369195;19372136;1939645;19405949;19409513;19411071;19443634;19525919;19553453;19576174;19592646;19625508;19644473;19652227;19700402;19723632;1973074;19741094;19802003;19805105;19807924;19850008;1985196;19915143;19920141;19955216;19962665;20028775;20058876;20068231;20100835;2011584;20192804;2022652;20231295;20233749;20304997;20338997;20363321;20478380;20484116;20489731;20496116;20522708;20558612;20658524;20713702;20927104;21037092;21049007;21102635;21188471;21193412;21317208;21368164;21372320;21408196;21445309;21469132;21478295;21653832;21659545;21659548;21668414;21757751;21779497;21779505;21799250;21822214;21827948;21880719;2196173;21976531;21984976;21993244;2201922;22041900;22080863;22089421;22120714;22153499;22180443;22188813;22210847;22238634;22267732;22327215;22483114;22569528;22588880;22589270;22689825;22750304;22802530;2303036;2304550;23052211;23053572;23073628;23103841;23186163;23216836;23303910;23443682;23481700;23506116;23507963;23575685;23593041;23602766;23675550;2374928;23945545;24043627;24525236;24666281;24670416;24687822;2474607;24764293;24890514;24897931;24937142;25219551;25239608;2529342;25316710;2538457;25418920;2543678;25502872;25572173;25576301;25645385;25751262;25781681;26029847;26085527;26154972;26235028;26811146;26848862;26992070;27001024;27335501;27452731;27536065;27566546;27600516;27797339;27846572;27862975;27920218;2809592;28192400;28218747;28228285;2833705;28403213;2841328;28467828;28514659;28736554;28778966;28832583;28834231;28904123;28923937;29062038;29242379;29371260;29393594;29493099;29508533;29557506;29632046;29632711;29704617;29786170;29964125;30315122;30379171;30429286;30573663;30779550;30792533;30833945;3099169;31085175;31135801;31154438;31205027;31217245;31222486;31439947;31530632;31844290;31848261;32157095;32161166;32184441;32296767;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33298915;33537174;33592498;33717175;33787846;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34433824;34499618;34932366;34983908;3500860;35051231;3526330;35580925;36010968;36215666;36284347;37938771;3872140;38752708;40914422;4589993;468991;6148751;6335036;7478576;7478585;7506952;7509040;7509446;7509796;7512959;7516890;7517401;7517665;7520444;7521687;7521878;7522622;7523381;7524079;7524477;7526158;7528218;7530449;7536744;7537740;7538118;7539802;7556068;7568038;7592958;7597091;7624799;7637810;7664083;7680037;7681396;7684496;7687428;7687536;7687539;7688784;7691807;7692230;7718892;7737275;7737969;7744773;7809086;7822789;7859737;7876172;7927516;7929212;7935463;7972015;7997267;8026468;803528;8052307;8163536;8163559;8166770;8206991;8226994;8246984;8306975;8314844;8327478;8340414;8355686;8394019;8394845;8493579;8541526;8598452;8599760;8609386;8611682;8611693;8617201;8617235;8617742;8617750;8621607;8626543;8636116;8638161;8639781;8645157;8647802;8649453;8649859;8657103;8657148;8663278;8665852;8665853;8673706;8681387;8695790;8700127;8702662;8710374;8774734;8805554;8809042;8862523;8939933;8946678;8947047;8950973;8961927;8972730;8981370;8986718;8990121;8995358;9000504;9024665;9028946;9032261;9038210;9042338;9045650;9049633;9050880;9052782;9054388;9099726;9111318;9162098;9169774;9182576;9200440;9207119;9225065;9235916;9242610;9252369;9256427;9259313;9280292;9295288;9314552;9326643;9331419;9341187;9351806;9351809;9355737;9360983;9382878;9382888;9393975;9396765;9398617;9425276;9438848;9438854;9446650;9472046;9490415;9499402;9525940;9528781;9590251;9604935;9620797;9660950;9687510;9690470;9693095;9694876;9697839;9705962;9712716;9736715;9741627;9763524;9768361;9774457;9788619;9799234;9822663;9830044;9857068;9861036;9872323;9883880;9885284;9895304;9927426;9973466", "class_list": "", "function": "FYN as an emerging biological biomarker for prognosis and potential therapeutic target in LGG., [RefSeq, PubMed]; Non-receptor tyrosine-protein kinase that plays a role in many biological processes including regulation of cell growth and survival, cell adhesion, integrin-mediated signaling, cytoskeletal remodeling, cell motility, immune response and axon guidance (PubMed:11536198, PubMed:15489916, PubMed:15557120, PubMed:16387660, PubMed:20100835, PubMed:7568038, PubMed:7822789). Inactive FYN is phosphorylated on its C-terminal tail within the catalytic domain (PubMed:15489916). Following activation by PKA, the protein subsequently associates with PTK2/FAK1, allowing PTK2/FAK1 phosphorylation, activation and targeting to focal adhesions (PubMed:15489916). Involved in the regulation of cell adhesion and motility through phosphorylation of CTNNB1 (beta-catenin) and CTNND1 (delta-catenin) (PubMed:17194753). Regulates cytoskeletal remodeling by phosphorylating several proteins including the actin regulator WAS and the microtubule-associated proteins MAP2 and MAPT (PubMed:14707117, PubMed:15536091). Promotes cell survival by phosphorylating AGAP2/PIKE-A and preventing its apoptotic cleavage (PubMed:16841086). Participates in signal transduction pathways that regulate the integrity of the glomerular slit diaphragm (an essential part of the glomerular filter of the kidney) by phosphorylating several slit diaphragm components including NPHS1, KIRREL1 and TRPC6 (PubMed:14761972, PubMed:18258597, PubMed:19179337). Plays a role in neural processes by phosphorylating DPYSL2, a multifunctional adapter protein within the central nervous system, ARHGAP32, a regulator for Rho family GTPases implicated in various neural functions, and SNCA, a small pre-synaptic protein (PubMed:11162638, PubMed:12788081, PubMed:19652227). Involved in reelin signaling by mediating phosphorylation of DAB1 following reelin (RELN)-binding to its receptor (By similarity). Participates in the downstream signaling pathways that lead to T-cell differentiation and proliferation following T-cell receptor (TCR) stimulation (PubMed:22080863). Phosphorylates PTK2B/PYK2 in response to T-cell receptor activation (PubMed:20028775). Also participates in negative feedback regulation of TCR signaling through phosphorylation of PAG1 and PDCD1 (PubMed:18056706, PubMed:32184441). Phosphorylation of PAG1 promotes interaction between PAG1 and CSK and recruitment of CSK to lipid rafts (PubMed:18056706). Phosphorylation of PDCD1 leads to the recruitment of PTPN11/SHP-2 that mediates dephosphorylation of key TCR proximal signaling molecules (PubMed:32184441). CSK maintains LCK and FYN in an inactive form (By similarity). Promotes CD28-induced phosphorylation of VAV1 (PubMed:11005864). In mast cells, phosphorylates CLNK after activation of immunoglobulin epsilon receptor signaling (By similarity). Can also promote CD244-mediated NK cell activation (PubMed:15713798)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq, Jul 2008]., [RefSeq]; [review] Recent evidence cited in this review suggests that alterations in Fyn, a Src family kinase, might contribute to Alzheimer's disease pathogenesis. 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": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B5BU57;E1P557;H0UI48;Q16248;Q5R3A6;Q5R3A7;Q8N5D7", "ec_number_list": "2.7.1.153;2.7.1.137;2.7.12.2;2.7.10.1;2.7.11.24;3.1.3.86;2.7.10.2;2.7.11.1;2.7.12.1;3.6.5.2;2.7.1.40;3.1.4.11;2.7.11.11;3.1.3.48;2.3.2.27;2.7.1.32;2.7.1.82;2.7.10.4;2.7.1.154;2.7.11.26;3.1.3.16;3.4.21.-;3.2.2.6;2.7.11.13;2.7.11.17;2.7.11.23;3.1.3.56;3.1.3.36", "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:0019899 enzyme binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005768 endosome;GO:0005829 cytosol", "go_biological_process": "GO:0010730 negative regulation of hydrogen peroxide biosynthetic process;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007612 learning;GO:0010629 negative regulation of gene expression;GO:0018108 peptidyl-tyrosine phosphorylation", "synthesized_glycan_count": 0, "hit_score": 90.2, "record_id": "P06241-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15642-1", "uniprot_id": "CIP4_HUMAN", "mass": 68352.0, "length": 601, "protein_name": "Cdc42-interacting protein 4", "gene_name": "TRIP10", "organism": "Human", "refseq_name": "cdc42-interacting protein 4 isoform 1", "refseq_ac": "NP_001275891", "gene_names_uniprotkb": "TRIP10; CIP4; STOT; STP", "gene_names_refseq": "CIP4; HSTP; STOT; STP; TRIP-10; TRIP10", "protein_names_uniprotkb": "Cdc42-interacting protein 4; Protein Felic; Salt tolerant protein; TR-interacting protein 10; TRIP-10; Thyroid receptor-interacting protein 10; hSTP", "protein_names_refseq": "CDC42-interacting protein 4; TR-interacting protein 10; cdc42-interacting protein 4 isoform 1; protein Felic; salt tolerant protein; salt tolerator; thyroid receptor-interacting protein 10", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858)", "pathway": " (hsa:9322); (R-HSA-8856828); (R-HSA-9013406)", "pathway_count": 3, "publication_count": 222, "publication_id_list": "10490598;10535736;10542231;10559856;10559861;10559924;10625686;10713100;10766823;10967094;11069762;11082044;11185749;11231140;11237011;11239472;11294612;11431473;11470803;11516654;11517213;11532990;11577110;11691828;11877457;11877461;11889126;12054674;12057195;12213833;12242347;12447393;12456510;12456725;12604778;12773384;12847086;12952949;14555962;14581451;14617351;14622578;14622579;15047863;15252009;15260957;15318165;15339664;15502812;15502813;15546864;15649145;15703209;15802264;15895077;15916959;16103228;16215232;16318909;16326391;16343437;16410077;16516836;16630611;16707488;16798879;16880396;16903783;17018281;17035995;17081983;17158794;17214551;17494869;17512409;17540576;17609109;17681954;17762867;17765681;17978091;18088087;18093523;18388313;1847920;18669648;18790740;18981233;19092055;19258391;19287005;19296720;19387844;19458185;19536138;19575674;19603039;19696796;19713215;19713939;19776351;19809571;20033059;20059951;20068231;20211604;20231386;20428113;20448150;20826345;20946875;2115402;21187331;21278753;21316588;21406692;21445324;21454492;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;22099461;22233676;22484487;22505844;22815487;22863004;23186163;23255595;23297414;23481700;23536704;23823722;23861397;23891661;24130457;24186068;24275569;24297911;24355937;24581490;24715725;24789820;24966051;25107275;25303366;25341920;25576301;25678704;26042225;26154972;26403691;26992070;27481945;27846572;27862975;28510447;28832583;28904123;29242379;29508533;29557506;29786170;29789417;30061681;30429286;30484775;30779550;31154438;31217245;31319138;31530632;31844290;31848261;31871319;31937595;31998317;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;34171305;34185709;34211107;34509645;34570775;35008409;35051231;35561310;35580925;36010968;36241641;36284347;6146630;7721814;7776974;7877694;8524399;8552632;9092476;9100026;9210375;9427626;9428629;9635431;9736607;9857026", "class_list": "", "function": "CIP4 PKA phosphorylation is associated with cancer cell invasiveness and metastasis. Erratum:[Cancer Lett. 2020 Mar 31;473:200-201. doi: 10.1016/j.canlet.2019.12.033. PMID: 31932121], [RefSeq, PubMed]; FBP17 and CIP4 prime the membrane of resting cells for fast endophilin-mediated endocytosis by recruiting the 5'-lipid phosphatase SHIP2 and lamellipodin to mediate the local production of phosphatidylinositol-3,4-bisphosphate and endophilin pre-enrichment. Erratum:[Nat Cell Biol. 2018 Oct;20(10):1229. doi: 10.1038/s41556-018-0191-3. PMID: 30127497], [RefSeq, PubMed]; Low expression of CIP4 in predicting worse overall survival: A potential biomarker for laryngeal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Required for translocation of GLUT4 to the plasma membrane in response to insulin signaling (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by recruiting WASL/N-WASP which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Required for the formation of podosomes, actin-rich adhesion structures specific to monocyte-derived cells. May be required for the lysosomal retention of FASLG/FASL., [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": 6, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R8A6;B7WP22;D6W645;O15184;Q53G22;Q5TZN1;Q6FI24;Q8NFL1;Q8TCY1;Q8TDX3;Q96RJ1", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0006897 endocytosis;GO:0007165 signal transduction;GO:0030036 actin cytoskeleton organization;GO:0007154 cell communication", "synthesized_glycan_count": 0, "hit_score": 22.5, "record_id": "Q15642-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04156-1", "uniprot_id": "PRIO_HUMAN", "mass": 27661.0, "length": 253, "protein_name": "Major prion protein", "gene_name": "PRNP", "organism": "Human", "refseq_name": "alternative prion protein AltPrp isoform", "refseq_ac": "NP_001258490", "gene_names_uniprotkb": "PRNP; ALTPRP; PRIP; PRP", "gene_names_refseq": "ASCR; AltPrP; CD230; CJD; GSS; KURU; PRIP; PRNP; PrP27-30; PrP33-35C; PrPc; PrP; p27-30", "protein_names_uniprotkb": "Major prion protein; ASCR; PrP27-30; PrP33-35C; PrP", "protein_names_refseq": "CD230 antigen; alternative prion protein AltPrp isoform; alternative prion protein; major prion protein; prion-related protein", "tax_id": 9606, "disease": "fatal familial insomnia (Disease Ontology:DOID:0050433); Huntington's disease-like 1 (Disease Ontology:DOID:0090103); Creutzfeldt-Jakob disease (Disease Ontology:DOID:11949); hyperglycemia (Disease Ontology:DOID:4195); Gerstmann-Straussler-Scheinker syndrome (Disease Ontology:DOID:4249); scrapie (Disease Ontology:DOID:5434); kuru (Disease Ontology:DOID:648); kuru, susceptibility to (MONDO:MONDO:0009500); spongiform encephalopathy with neuropsychiatric features (MONDO:MONDO:0011703)", "pathway": " (hsa:5621); (R-HSA-419037); (R-HSA-9609523)", "pathway_count": 3, "publication_count": 189, "publication_id_list": "40667337;10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10454141;10581485;10618385;10631141;10790216;10900000;10954699;10970892;10987652;11030742;11237011;11524679;11709001;11900542;12214108;12470218;12690204;12732622;12765789;12930355;1347910;1363802;1363810;1439789;14623188;15140886;15270846;15596149;15708368;16144413;16266315;16267048;1671440;1672107;16777091;1678248;1683708;16859811;17313482;17382883;17468747;17644183;17893675;17896076;17936697;18034490;18059411;18477612;19059915;19164886;19204296;19349973;19381258;1975028;19923577;19927125;19936054;20194495;20375014;20375064;20530267;20564047;20564346;20676083;21153684;21176851;21444755;21466504;21478263;21636303;21743475;22028931;22043910;22424782;22898188;23041287;23129660;23142665;23246001;23469131;23533635;23584533;24190977;24392163;24493590;24715725;25179605;25415308;25502872;25535373;2564168;25713138;26061765;26154972;26675233;26992070;27193484;27226539;27458190;27600516;2783132;27846572;2809592;28104892;28228285;28467828;28832583;28855257;28904123;29222195;29242231;29242379;29393594;29493099;29557506;29632046;29632711;29671580;3014653;30315122;30429286;30524438;30935958;31154438;31611695;31844290;31848261;31937595;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32897882;32938616;33123756;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34019948;34171305;34357683;34509645;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;37074911;3755672;37938771;38665916;39147880;39212313;39392708;7485229;7699395;7783876;7902693;7902972;7906019;7913755;8105771;8262246;8364585;8461023;8797472;8909447;8972487;9266722;9384372;9398268;9482303;9786248;9792871;9799790", "class_list": "", "function": "Cellular prion protein acts as mediator of amyloid beta uptake by caveolin-1 causing cellular dysfunctions in vitro and in vivo., [RefSeq, PubMed]; Copper binding alters the core structure of amyloid fibrils formed by Y145Stop human prion protein. Publication Status: Online-Only, [RefSeq, PubMed]; Instability of the octarepeat region of the human prion protein gene, [RefSeq, PubMed]; Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis through acting as an agonist for ADGRG6 receptor. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro) (By similarity). Association with GPC1 (via its heparan sulfate chains) targets PRNP to lipid rafts. Also provides Cu(2+) or Zn(2+) for the ascorbate-mediated GPC1 deaminase degradation of its heparan sulfate side chains (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; PrP[C] controls epithelial-to-mesenchymal transition in EGFR-mutated NSCLC: implications for TKI resistance and patient follow-up., [RefSeq, PubMed]; Results demonstrate an unexpected function for PRNP, which, in addition to plasma membrane-anchored PrP, also encodes a second polypeptide termed AltPrP., [RefSeq, PubMed]; The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. 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": 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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 9, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "O60489;P78446;Q15216;Q15221;Q27H91;Q5QPB4;Q8TBG0;Q96E70;Q9UP19", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0060090 molecular adaptor activity;GO:0002020 protease binding;GO:0008017 microtubule binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005741 mitochondrial outer membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0098552 side of membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0032700 negative regulation of interleukin-17 production;GO:0032703 negative regulation of interleukin-2 production;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006878 intracellular copper ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "P04156-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P62993-1", "uniprot_id": "GRB2_HUMAN", "mass": 25206.0, "length": 217, "protein_name": "Growth factor receptor-bound protein 2", "gene_name": "GRB2", "organism": "Human", "refseq_name": "growth factor receptor-bound protein 2 isoform 1", "refseq_ac": "NP_002077", "gene_names_uniprotkb": "GRB2; ASH", "gene_names_refseq": "ASH; EGFRBP-GRB2; GRB2; Grb3-3; MST084; MSTP084; NCKAP2", "protein_names_uniprotkb": "Growth factor receptor-bound protein 2; Adapter protein GRB2; Protein Ash; SH2/SH3 adapter GRB2", "protein_names_refseq": "HT027; SH2/SH3 adapter GRB2; abundant SRC homology; epidermal growth factor receptor-binding protein GRB2; epididymis secretory sperm binding protein; growth factor receptor-bound protein 2 isoform 1; growth factor receptor-bound protein 3; protein Ash", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 114 (Disease Ontology:DOID:0111642); prostate cancer (Disease Ontology:DOID:10283); breast cancer (Disease Ontology:DOID:1612); prostate adenocarcinoma (Disease Ontology:DOID:2526); endometrial carcinoma (Disease Ontology:DOID:2871)", "pathway": " (hsa:2885); (R-HSA-8983432); (R-HSA-9674555); (R-HSA-9702518); (R-HSA-9703648); (R-HSA-9725370); (R-HSA-9842663)", "pathway_count": 7, "publication_count": 370, "publication_id_list": "10022120;10026169;10051406;10080542;10086340;10090780;10216106;10318918;10358752;10395476;10445845;10482988;10537111;10556217;10587647;10643150;10698507;10702393;10706082;10706887;10747847;10867024;10934142;10942756;10980613;11016927;11027663;11063574;11090077;11110708;11237011;11280786;11290608;11310834;11433379;11504915;11518702;11533253;11726515;11751994;11827484;11850821;11912194;11943732;11988758;12112524;12171928;12185581;12359715;12424201;12433361;12468433;12475979;12486104;12514734;12623850;12750159;12796379;12800156;12920229;12925710;12934099;12969963;1322798;1384039;14695357;14962911;14984498;15003515;15102829;15169778;15178581;15208656;15256420;15302586;15308621;15374880;15488758;15498859;15526160;15588951;15895073;16129412;16153455;16161041;16170336;16212621;16266983;16410449;16492764;16582911;16627759;16684964;16720384;16825495;16871283;16939498;16990784;1701053;17038317;17081983;17086210;17353907;17356133;17416736;17483340;17625570;17697703;17879956;17974561;18068628;18097461;18296648;18452557;18483393;18559951;18593892;18594010;18644434;18669648;18701132;18724359;18849880;18923523;18923524;18923525;19109239;19438505;19456272;19459784;19509291;19523899;19608861;19805105;19815557;19836242;19914172;20111072;20112406;20454865;20521079;20548102;20554525;20933011;21134980;21164297;21179510;21213368;21262971;21415216;2147944;21494621;21596819;21656749;21827948;21838707;21847362;21930792;22027826;22249260;22327338;22327622;22347464;22347506;22411868;22561606;22570254;22658521;22726438;23103841;23104988;23139213;23154388;23168613;23201355;23239810;23420874;23481700;23661334;23946459;23957430;24060861;24098653;24220695;24366607;24397554;24445538;24475247;24496003;24518094;24613930;24714562;24715725;24736082;24737791;25092874;25331893;25342631;25393796;25413232;25418920;25421750;25469497;25502872;25576301;25645385;25813404;25870599;25921060;26001147;26062823;26103942;26154972;26301689;26418745;26515730;26630010;26716518;26811146;26891877;26992070;27041574;27245569;27256702;27573755;27600516;27846572;27862975;27874193;27920218;28063628;28218747;28228285;28271164;28404650;28467828;28659337;28741662;28832583;28834231;28904123;29030480;29242379;29317506;29393594;29437277;29455642;29493099;29508533;29523808;29557506;29632046;29632711;29786170;29873274;29964125;30061385;30131584;30315122;30332834;30410026;30429286;30484775;30552988;30644389;30651634;30692217;30779550;31066629;31366041;31462771;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33795832;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34348893;34357683;34561969;34646012;34819673;34932366;35051231;35154160;35251023;35318648;35580925;35831301;36010968;36171279;36215666;36241641;36284347;36581221;36864087;37328606;37626338;37938771;38182563;38459011;38665916;38805286;39199427;39216120;7512720;7521688;7568001;7568038;7641685;7664271;7716522;7805849;7824924;7881903;8178156;8197119;8262059;8388384;8491186;8493579;8530383;8633037;8723348;8794768;8798570;8977235;9016807;9062191;9108392;9126349;9148935;9178760;9223670;9226159;9233773;9422736;9484780;9489702;9553137;9642078;9737679;9819383;9864153;9918857", "class_list": "", "function": "CCDC6-RET fusion protein regulates Ras/MAPK signaling through the fusion- GRB2-SHC1 signal niche., [RefSeq, PubMed]; DUS4L suppresses invasion and metastasis in LUAD via modulation of PI3K/AKT and ERK/MAPK signaling through GRB2., [RefSeq, PubMed]; Does not bind to phosphorylated epidermal growth factor receptor (EGFR) but inhibits EGF-induced transactivation of a RAS-responsive element. Acts as a dominant negative protein over GRB2 and by suppressing proliferative signals, may trigger active programmed cell death. Mechanistically, inhibits RAS-ERK signaling and downstream cell proliferation by competing with GRB2 for SOS1 binding and thus by regulating SOS1 membrane recruitment (PubMed:36171279)., [UniProtKB, PubMed, PubMed]; Non-enzymatic adapter protein that plays a pivotal role in precisely regulated signaling cascades from cell surface receptors to cellular responses, including signaling transduction and gene expression (PubMed:11016927, PubMed:11726515, PubMed:37626338). Thus, participates in many biological processes including regulation of innate and adaptive immunity, autophagy, DNA repair or necroptosis (PubMed:35831301, PubMed:37626338, PubMed:38182563). Controls signaling complexes at the T-cell antigen receptor to facilitate the activation, differentiation, and function of T-cells (PubMed:36864087, PubMed:9489702). Mechanistically, engagement of the TCR leads to phosphorylation of the adapter protein LAT, which serves as docking site for GRB2 (PubMed:9489702). In turn, GRB2 establishes a a connection with SOS1 that acts as a guanine nucleotide exchange factor and serves as a critical regulator of KRAS/RAF1 leading to MAPKs translocation to the nucleus and activation (PubMed:12171928, PubMed:25870599). Functions also a role in B-cell activation by amplifying Ca(2+) mobilization and activation of the ERK MAP kinase pathway upon recruitment to the phosphorylated B-cell antigen receptor (BCR) (PubMed:25413232, PubMed:29523808). Plays a role in switching between autophagy and programmed necrosis upstream of EGFR by interacting with components of necrosomes including RIPK1 and with autophagy regulators SQSTM1 and BECN1 (PubMed:35831301, PubMed:38182563). Regulates miRNA biogenesis by forming a functional ternary complex with AGO2 and DICER1 (PubMed:37328606). Functions in the replication stress response by protecting DNA at stalled replication forks from MRE11-mediated degradation. Mechanistically, inhibits RAD51 ATPase activity to stabilize RAD51 on stalled replication forks (PubMed:38459011). Additionally, directly recruits and later releases MRE11 at DNA damage sites during the homology-directed repair (HDR) process (PubMed:34348893)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Targeting Grb2 SH3 Domains with Affimer Proteins Provides Novel Insights into Ras Signalling Modulation. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced 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": 7, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 4, "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": "P29354;Q14450;Q63057;Q63059", "ec_number_list": "", "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0003723 RNA binding;GO:0017124 SH3 domain binding;GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0007165 signal transduction;GO:0031623 receptor internalization;GO:0042110 T cell activation;GO:0042552 myelination;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 37.3, "record_id": "P62993-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12933-1", "uniprot_id": "TRAF2_HUMAN", "mass": 55859.0, "length": 501, "protein_name": "TNF receptor-associated factor 2", "gene_name": "TRAF2", "organism": "Human", "refseq_name": "TNF receptor-associated factor 2", "refseq_ac": "NP_066961", "gene_names_uniprotkb": "TRAF2; TRAP3", "gene_names_refseq": "MGC:45012; RNF117; TRAF2; TRAP3; TRAP", "protein_names_uniprotkb": "TNF receptor-associated factor 2; 2.3.2.27; E3 ubiquitin-protein ligase TRAF2; RING-type E3 ubiquitin transferase TRAF2; Tumor necrosis factor type 2 receptor-associated protein 3", "protein_names_refseq": "E3 ubiquitin-protein ligase TRAF2; RING-type E3 ubiquitin transferase TRAF2; TNF receptor-associated factor 2; tumor necrosis factor type 2 receptor associated protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:7186); (R-HSA-140534); (R-HSA-3371378); (R-HSA-5213460); (R-HSA-5218900); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5668541); (R-HSA-5675482); (R-HSA-5676594); (R-HSA-5689880); (R-HSA-69416); (R-HSA-75893); (R-HSA-933541); (R-HSA-933542); (R-HSA-9693928); (R-HSA-9758274)", "pathway_count": 18, "publication_count": 366, "publication_id_list": "10037686;10085077;10206649;10346818;10359578;10411888;10421793;10444327;10463949;10514511;10521396;10521462;10581243;10764746;10797013;10809768;10837247;10880535;10892748;10894160;10982817;11035039;11073981;11098060;11181075;11237011;11278723;11384965;11427719;11463813;11566882;11577081;11728344;11784851;11853672;11907583;11923872;12133833;12167698;12181749;12215447;12221085;12374738;12411493;12529173;12571250;12604599;12620239;12620240;12709429;12721308;12721620;12787562;12887920;12912912;12917689;12917691;14604983;14661020;14716293;15024054;15053880;15084608;15121867;15258597;15289496;15310755;15361868;15368291;15383523;15389287;15556967;15585864;15644327;15696169;15760909;15814722;15824857;15870263;15916963;16153868;16214042;16260783;16282325;16408927;16603398;16682944;16829951;16829952;16901786;16914100;16953224;16964248;17081983;17290220;17314102;17327220;17389591;17443180;17636564;17644308;17702576;17873522;17980597;17981138;18172164;18178551;18190721;18256533;18467330;18485876;18570872;18632802;18635759;18636086;18838202;18981220;18997792;18997794;19015242;19135894;19150425;19188362;19241374;19278658;19289468;19336568;19363159;19398555;19416807;19424180;19426221;19479062;19506082;19524512;19524513;19651622;19666475;19668221;19683492;19810754;19815541;19838211;19874889;19910467;19918265;19937093;19969290;20005846;20043992;20047764;20058876;20064526;20068231;20096447;20185725;20218968;20219915;20228808;20304918;20308068;20368735;20385093;20385556;20434986;20447407;20483727;20501646;20577214;20627800;20696707;20951169;21081755;21091114;21119000;21235526;21239494;21302310;21307340;21362556;21406692;21408173;21571647;21596315;21659512;21703539;21737330;21849505;21962518;22029577;22085928;22095282;22128162;22179575;22212761;22216260;22265413;22297296;22421439;22435550;22479555;22619329;22817896;22848449;22898188;23007157;23159851;23186163;23313255;23332158;23395819;23453969;23453971;23481700;23486064;23667509;23746843;23754945;23824326;23825189;24056413;24059293;24098568;24246475;24248355;24260525;24298274;24316671;24323043;24362534;24432023;24493797;24703947;24722368;24726323;24726327;24813885;24896179;25026888;25152365;25197364;25305019;25418920;25565632;25578727;25609706;25852146;25996294;26240016;26344099;26620909;26775703;26866270;26900751;26933192;26992070;26997266;27098354;27307491;27426725;27458237;27545878;27552911;27591049;27920218;28228285;2848815;28489822;28506461;28510447;28661484;28726782;28832583;28855498;28904123;28920952;28920954;29242379;29393594;29642005;29681455;29883609;29883610;29930286;30146158;30361438;30420664;30770249;30833945;30988283;31031142;31138766;31358971;31366726;31511692;31826938;31844290;32161166;32269263;32320653;32350084;32357974;32561730;32938616;32983136;33298915;33469115;33592498;33654074;33936100;33968037;34087483;34162724;34171305;34277634;34357683;34363755;34405274;34876703;34999730;35051231;35154160;35941131;36010968;36215666;38354704;38419066;38978293;39127151;7531702;7544915;7578059;7639698;7667287;7758105;8069916;8521496;8627180;8663299;8679576;8702708;8710854;9008162;9020361;9049422;9065443;9104814;9122217;9153189;9247583;9367155;9418902;9488716;9607925;9660935;9689078;9692890;9705938;9718306;9721089;9774460;9774977;9822609;9827693;9852070;9880531", "class_list": "", "function": "E3 ubiquitin-protein ligase that regulates activation of NF-kappa-B and JNK and plays a central role in the regulation of cell survival and apoptosis (PubMed:10346818, PubMed:11784851, PubMed:12917689, PubMed:15383523, PubMed:18981220, PubMed:19150425, PubMed:19810754, PubMed:19918265, PubMed:19937093, PubMed:20047764, PubMed:20064526, PubMed:20385093, PubMed:20577214, PubMed:22212761). Catalyzes 'Lys-63'-linked ubiquitination of target proteins, such as BIRC3, IKBKE, MLST8, RIPK1 and TICAM1 (PubMed:23453969, PubMed:28489822). Is an essential constituent of several E3 ubiquitin-protein ligase complexes, where it promotes the ubiquitination of target proteins by bringing them into contact with other E3 ubiquitin ligases (PubMed:15383523, PubMed:18981220). Regulates BIRC2 and BIRC3 protein levels by inhibiting their autoubiquitination and subsequent degradation; this does not depend on the TRAF2 RING-type zinc finger domain (PubMed:11907583, PubMed:19506082). Plays a role in mediating activation of NF-kappa-B by EIF2AK2/PKR (PubMed:15121867). In complex with BIRC2 or BIRC3, promotes ubiquitination of IKBKE (PubMed:23453969). Acts as a regulator of mTORC1 and mTORC2 assembly by mediating 'Lys-63'-linked ubiquitination of MLST8, thereby inhibiting formation of the mTORC2 complex, while facilitating assembly of the mTORC1 complex (PubMed:28489822). Required for normal antibody isotype switching from IgM to IgG (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TRAF2 associates with cullin neddylation complex assembly., [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from members of the TNF receptor superfamily. This protein directly interacts with TNF receptors, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF receptors. The interaction of this protein with TRADD, a TNF receptor associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing ubiquitin ligase activity, can unbiquitinate and induce the degradation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; USP24 promotes hepatocellular carcinoma tumorigenesis through deubiquitinating and stabilizing TRAF2., [RefSeq, PubMed]; Unlocking hepatocellular carcinoma aggression: STAMBPL1-mediated TRAF2 deubiquitination activates WNT/PI3K/NF-kb signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K107;B4DPJ7;Q7Z337;Q96NT2", "ec_number_list": "3.4.19.12;2.7.11.10;2.7.11.1;2.4.1.255;2.7.11.25;3.6.4.13;2.3.2.-;3.4.25.1;2.3.2.24;2.3.2.23;2.3.2.27;6.3.2.n3;3.4.22.61;2.3.2.31", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:1990604 IRE1-TRAF2-ASK1 complex;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0023035 CD40 signaling pathway;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0048255 mRNA stabilization;GO:0042110 T cell activation", "synthesized_glycan_count": 0, "hit_score": 36.9, "record_id": "Q12933-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NAA4-1", "uniprot_id": "A16L2_HUMAN", "mass": 68998.0, "length": 619, "protein_name": "Protein Atg16l2", "gene_name": "ATG16L2", "organism": "Human", "refseq_name": "protein Atg16l2 isoform 2", "refseq_ac": "NP_001305695", "gene_names_uniprotkb": "ATG16L2; WDR80", "gene_names_refseq": "ATG16B; ATG16L2; WDR80", "protein_names_uniprotkb": "Protein Atg16l2; APG16-like 2; Autophagy-related protein 16-2; WD repeat-containing protein 80", "protein_names_refseq": "APG16-like 2; ATG16 autophagy related 16-like 2; WD repeat-containing protein 80; autophagy-related protein 16-2; protein Atg16l2 isoform 2; protein Atg16l2", "tax_id": 9606, "disease": "inflammatory bowel disease 10 (Disease Ontology:DOID:0110885)", "pathway": " (hsa:89849); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "11096062;11237011;11825910;15187094;16963840;17618624;18321988;18439900;19211835;19322194;19590496;19855179;19898463;20059746;20713597;20921139;21177865;21205641;21258367;21383122;21460621;21819378;22170151;22682742;23202584;23685627;23727157;23850713;23884233;24406150;24747438;24954904;25484072;25568151;26992070;27611316;27862975;28514659;28832583;28904123;29242379;29454863;29493099;29557506;29786170;30429286;31692259;31844290;32387766;32897882;32983136;33113339;33141586;33717175;33912179;33968037;35051231;35239457;35580925;36284347;7628435", "class_list": "", "function": "ATG16L2 is a susceptibility gene for Crohn's disease in the Chinese population. The rs11235604 single nucleotide polymorphism is remarkably associated with downregulation of the expression of ATG16L2., [RefSeq, PubMed]; Atg16L2 may play an important role in autophagy of T cells and serve as a potential biomarker to predict clinical relapse of Multiple sclerosis, [RefSeq, PubMed]; Identification of a novel differentially methylated region adjacent to ATG16L2 in lung cancer cells using methyl-CpG binding domain protein-enriched genome sequencing., [RefSeq, PubMed]; May play a role in regulating epithelial homeostasis in an ATG16L1-dependent manner., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Patients with the ATG16L2 rs10898880 CC variant genotype had a better LRFS, PFS, and OS (adjusted hazard ratio = 0.59, 0.64, and 0.64; 95% confidence interval: 0.45-0.79, 0.48-0.84, and 0.48-0.86; p = 0.0004, 0.002, and 0.003, respectively), but a greater risk for development of severe RP (adjusted hazard ratio = 1.80, 95% confidence interval: 1.04-3.12, p = 0.037) than did patients with AA/AC genotypes., [RefSeq, PubMed]; Results found ATG16L2 rs10898880 was significantly associated with the occurrence of grade 3-4 oral mucositis and myelosuppression in nasopharyngeal carcinoma (NPC) patients treated with radiotherapy., [RefSeq, PubMed]; The role of ATG16L2 in autophagy and disease. Review article, [RefSeq, PubMed]; Three novel risk loci including ATG16L2 were discovered by genome-wide association study in the Korean Crohn's disease population, of which two showed patterns of association in the International Inflammatory Bowel Disease Genetics Consortium dataset., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A5PL30;B2RPK5;Q658V4;Q6PID3;Q8NBG0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0034045 phagophore assembly site membrane;GO:0034274 Atg12-Atg5-Atg16 complex", "go_biological_process": "GO:0015031 protein transport;GO:0000045 autophagosome assembly", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q8NAA4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07339-1", "uniprot_id": "CATD_HUMAN", "mass": 44552.0, "length": 412, "protein_name": "Cathepsin D", "gene_name": "CTSD", "organism": "Human", "refseq_name": "cathepsin D preproprotein", "refseq_ac": "NP_001900", "gene_names_uniprotkb": "CTSD; CPSD", "gene_names_refseq": "CLN10; CPSD; CTSD; HEL-S-130P", "protein_names_uniprotkb": "Cathepsin D; 3.4.23.5", "protein_names_refseq": "cathepsin D preproprotein; ceroid-lipofuscinosis, neuronal 10; epididymis secretory sperm binding protein Li 130P; lysosomal aspartyl peptidase; lysosomal aspartyl protease", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); neuronal ceroid lipofuscinosis 10 (Disease Ontology:DOID:0110725); Alzheimer's disease (Disease Ontology:DOID:10652); neuronal ceroid lipofuscinosis (Disease Ontology:DOID:14503); breast cancer (Disease Ontology:DOID:1612)", "pathway": " (hsa:1509); (R-HSA-1442490); (R-HSA-2022377); (R-HSA-2132295); (R-HSA-6798695); (R-HSA-77387); (R-HSA-9018519)", "pathway_count": 7, "publication_count": 418, "publication_id_list": "37639587;10.1007/s00018-021-03863-1;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10036229;10049780;10064083;10072072;10480952;10500157;10536878;10540230;10551873;10593899;10631941;10631952;10639150;10716266;10748235;10809722;10809954;10828826;10873660;10899625;10924499;10969042;11010967;11013208;11034064;11103799;11119712;11136970;11165043;11237011;11345900;11410592;11452016;11502696;11529500;11577169;11581164;11682626;11684289;11779865;11790530;11813165;11815627;11853874;11927537;12045255;12078484;12198549;12498683;12540854;12579531;12612073;12643545;12742663;12748383;12754519;12927775;12959972;1426530;14631847;14675539;14731593;14747736;15001666;15005656;15257288;15276198;15282324;15283675;15343269;15345050;15514030;15749704;15911768;15950618;15986123;16009131;16046058;16087863;16113099;16181339;16242130;16263699;16271887;1630819;16335952;16574064;16618111;16670177;1668266;16685649;16790432;16824007;16825197;16980581;17013392;1704217;17051221;17081065;17088321;17138938;17142755;17277772;17283181;17463000;17495528;17510434;17637753;17666587;17690249;17704566;18046453;18187655;18219272;18256232;18292509;18322535;18358809;18406720;18452278;18476782;1848554;1851160;18533032;18566446;18622425;18762174;18805503;19001364;19020303;19098913;19117535;19159218;19274700;19295514;19321446;19321454;19383337;1956401;19564404;19718048;19800993;2005102;20219941;20220130;20380117;20498280;20551380;20570965;20682797;2069717;20889553;21081667;21106759;21116285;21151129;2121367;21441454;21445275;21573489;21593211;2169335;2181374;21835891;21878914;2190094;21934649;21935455;21940756;21990111;22056668;22087256;22193701;22241472;22265404;22299025;22382088;22492511;2253219;22545144;2266130;22661428;22704330;23090970;23145106;23172872;23192763;23234360;23303788;23403292;23435229;23446738;23481700;23584533;23650620;23723241;23906331;2391366;24141856;24167369;24190977;24371278;2443571;24715725;24735615;24854081;24885040;24973012;24998469;25296600;25298308;25365482;2537292;25433557;2548603;25502872;2551898;25542856;25576301;2558510;25633194;25645385;25663755;25674852;25728767;25813380;26056233;26153859;26204489;26374642;26462610;26479350;26998125;27062924;2708524;27333034;27397612;27452731;27655845;27726376;27846572;27886276;27920218;28218747;2834383;2845110;2846041;28467828;28539435;28832583;28904123;2919170;29242379;29314611;29391424;29393594;29557506;29596046;29632711;29741879;29786170;29789417;2986535;3017438;30315122;3038863;30397120;30429286;3045126;30459171;30484775;30524438;30573663;3061785;30626607;30779550;31154438;31217245;31530632;31611695;31844290;31848261;31998317;32157095;32161166;32162841;3223920;32350084;32387766;32488085;32502341;3281094;32897882;32938616;32983136;33043033;33091337;33214551;33298915;33392160;33592498;33691108;33912179;33936100;33968037;34019948;34078123;34087483;34089345;34357683;34509645;34725712;34932366;3498214;35051231;35132862;35154160;35251023;35318648;35561310;35580925;3588310;36010968;36215666;36240223;36241641;36284347;3677090;37074911;37217939;37340703;37938771;38253038;383475;38665916;38837708;38917962;38928416;39019115;3927292;39531497;39534244;40596516;4289389;4322712;4330891;4360430;6258630;6269175;6270089;6270633;6303766;6694361;6807977;7481823;7559524;7592972;7650016;7667286;7890717;7929063;7935485;7937828;7980644;8046351;8134367;8145819;8148318;8195246;8197458;8262386;8300632;8313912;8393577;8397411;8415765;8419924;8463259;8467789;8576151;8606061;8642258;8682206;8687433;8692836;8849454;8876171;8909537;8920930;8939989;8947036;8995282;8999957;9075930;9092507;9169443;9201922;9202021;9311912;9312039;9338790;9388265;9497313;9539769;9545226;9570564;9606180;9609117;9611253;9651395;9671459;9731700;9793760", "class_list": "glycogene", "function": "Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation (PubMed:27333034). Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease., [UniProtKB, PubMed]; CTSD upregulation as a key driver of spinal ligament abnormalities in spinal stenosis., [RefSeq, PubMed]; Cathepsin D is essential for the degradomic shift of macrophages required to resolve liver fibrosis., [RefSeq, PubMed]; Downregulation of Protease Cathepsin D and Upregulation of Pathologic alpha-Synuclein Mediate Paucity of DNAJC6-Induced Degeneration of Dopaminergic Neurons. Publication Status: Online-Only, [RefSeq, PubMed]; Impaired cathepsin D in retinal pigment epithelium cells mediates Stargardt disease pathogenesis., [RefSeq, PubMed]; This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "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": 3, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 587, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 116, "disease_count": 5, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "Q6IB57", "ec_number_list": "1.8.3.2;3.4.19.12;3.6.4.13;2.7.1.35;3.4.22.43;1.1.1.42;2.4.2.1;3.4.21.46;3.4.23.15;3.4.21.-;1.16.3.1;1.11.1.6;4.1.2.13;3.5.3.1;2.4.1.1;5.3.1.9;5.1.3.-;3.4.23.5;3.4.22.52;3.4.22.15;3.4.22.1;3.6.4.10;3.2.1.31;3.4.21.37;2.3.1.16;2.3.1.9;2.3.1.155;2.5.1.18;1.13.11.-;1.13.11.34;3.3.2.6;3.4.11.4;3.4.16.5;3.4.16.-;1.1.1.205;4.2.99.18;5.6.2.4;3.6.5.-;4.2.1.24;3.4.19.1;3.4.23.34;5.3.2.1;5.3.3.12;2.7.10.2;2.7.11.1;2.7.1.40;3.4.24.56;3.4.24.35;3.1.6.14;3.1.6.12;3.2.1.23;2.7.1.11;5.4.2.11;5.4.2.4;1.4.3.22;1.4.3.-;2.7.4.6;2.7.13.3;3.4.24.34;3.4.22.27;2.7.11.24;3.1.3.48;3.5.4.5;3.4.21.4;5.4.2.2;3.4.22.42;3.4.22.38;2.4.1.186;3.1.21.-;3.6.1.-;3.6.5.2;2.7.1.1;2.7.1.-;2.3.3.8;3.4.14.1;3.6.4.6;3.2.1.17;5.2.1.8;3.1.1.47;3.1.1.-;3.5.4.6;2.3.1.48;2.3.1.-;1.11.1.24;3.2.1.14;3.5.1.23;3.5.1.-;3.5.1.109;2.7.11.22;2.7.11.23;2.3.2.5;2.3.2.26;3.6.1.6;3.4.19.9;5.4.2.7;3.4.25.1;3.2.1.18;2.1.1.348;2.1.1.9;3.5.1.3;2.3.2.27;3.4.18.1;3.4.22.41;3.2.1.166;4.1.2.4", "go_molecular_function": "GO:0008233 peptidase activity;GO:0004197 cysteine-type endopeptidase activity;GO:0004190 aspartic-type endopeptidase activity;GO:0070001 aspartic-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0031012 extracellular matrix;GO:0031904 endosome lumen", "go_biological_process": "GO:0006508 proteolysis;GO:0043065 positive regulation of apoptotic process;GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II;GO:0097194 execution phase of apoptosis;GO:0042159 lipoprotein catabolic process", "synthesized_glycan_count": 0, "hit_score": 54.8, "record_id": "P07339-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51693-1", "uniprot_id": "APLP1_HUMAN", "mass": 72176.0, "length": 650, "protein_name": "Amyloid beta precursor like protein 1", "gene_name": "APLP1", "organism": "Human", "refseq_name": "amyloid beta precursor like protein 1 isoform 1 precursor", "refseq_ac": "NP_001019978", "gene_names_uniprotkb": "APLP1", "gene_names_refseq": "APLP1; APLP", "protein_names_uniprotkb": "Amyloid beta precursor like protein 1; APLP-1; APLP; Amyloid beta (A4) precursor-like protein 1; Amyloid-like protein 1", "protein_names_refseq": "amyloid beta (A4) precursor-like protein 1; amyloid beta precursor like protein 1 isoform 1 precursor; amyloid precursor-like protein 1; amyloid-like protein 1", "tax_id": 9606, "disease": "Alzheimer's disease 1 (Disease Ontology:DOID:0080348); Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:333)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12135352;19838169;21574595;23234360;28218747;28987665;29021345;29382944;29437277;29557506;30459171;31844290;32350084;32387766;32938616;33392160;33592498;33912179;33968037;33981976;34357683;34405274;34509645;35051231;35251023;36241641;38821932;7494461;7929392;9428684;9521588;9890987", "class_list": "", "function": "Aplp1 interacts with Lag3 to facilitate transmission of pathologic alpha-synuclein. Erratum:[Nat Commun. 2024 Jul 30;15(1):6413. doi: 10.1038/s41467-024-50640-2. PMID: 39080298] Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in postsynaptic function. The C-terminal gamma-secretase processed fragment, ALID1, activates transcription activation through APBB1 (Fe65) binding (By similarity). Couples to JIP signal transduction through C-terminal binding. May interact with cellular G protein signaling pathways. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I., [UniProtKB]; Results provide direct evidence that APLP1 functions as a neuronal zinc-dependent adhesion protein and allow a more detailed understanding of the molecular mechanisms driving the formation of APLP1 adhesion platforms., [RefSeq, PubMed]; The direct cleavage of APLP1 is a novel feature of the gamma-secretase. Publication Status: Online-Only, [RefSeq, PubMed]; The gamma-CTF peptide, C30, is a potent enhancer of neuronal apoptosis., [UniProtKB]; The results show that in cognitively normal young adults carrying APlp1 mutations showed different spontaneous brain activity patterns without cerebral structural differences., [RefSeq, PubMed]; This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 2, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 3, "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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "O00113;Q96A92", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding;GO:0042802 identical protein binding;GO:0046914 transition metal ion binding;GO:0031694 alpha-2A adrenergic receptor binding;GO:0031696 alpha-2C adrenergic receptor binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005604 basement membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0006897 endocytosis;GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007409 axonogenesis;GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "P51693-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49753-1", "uniprot_id": "ACOT2_HUMAN", "mass": 53218.0, "length": 483, "protein_name": "Acyl-coenzyme A thioesterase 2, mitochondrial", "gene_name": "ACOT2", "organism": "Human", "refseq_name": "acyl-coenzyme A thioesterase 2, mitochondrial isoform 1", "refseq_ac": "NP_006812", "gene_names_uniprotkb": "ACOT2; PTE2A; PTE2", "gene_names_refseq": "ACOT2; CTE-IA; CTE1A; MTE1; PTE2A; PTE2; ZAP128", "protein_names_uniprotkb": "Acyl-coenzyme A thioesterase 2, mitochondrial; 3.1.2.2; Acyl-CoA thioesterase 2; Acyl-coenzyme A thioester hydrolase 2a; CTE-Ia; Long-chain acyl-CoA thioesterase 2; ZAP128", "protein_names_refseq": "acyl-coenzyme A thioester hydrolase 2a; acyl-coenzyme A thioesterase 2, mitochondrial isoform 1; acyl-coenzyme A thioesterase 2, mitochondrial; long-chain acyl-CoA thioesterase 2; mitochondrial acyl-CoA thioesterase 1; peroxisomal long-chain acyl-coA thioesterase 2", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:10965); (R-HSA-77289); (R-HSA-9033241); (R-HSA-9837999); (R-HSA-9918432)", "pathway_count": 5, "publication_count": 156, "publication_id_list": "10022913;10228156;10562279;10673331;10944470;11101887;11237011;11546814;11696000;11781871;11923310;11931631;12198491;12456682;12559034;12578380;12717447;12882974;12885776;14623864;15522782;15545321;15638818;15858711;15870080;16115876;16423998;16854980;16934754;16940157;17007944;17101804;17297443;17579211;17726030;17762044;17953517;18268358;18359941;18712838;19170545;19197237;19208625;19497300;19584060;19632994;19841671;20178365;20338778;20470824;20877624;21237683;21554508;21976670;21980954;22002062;22057399;22262461;22371489;22465940;22586271;22710082;22747494;22871024;23201127;23301498;23700546;23901139;23931759;23963456;24080521;24235149;24315374;24520911;24732803;24865970;25002576;25016021;25538232;25576301;25645385;25854684;26086376;26138649;26208004;26220973;26290611;26344566;26504172;26923599;27383988;27452731;27496948;27597759;27642048;28228593;28377575;28396416;28514659;28521612;28611990;28765278;28787099;28832583;28855257;29242379;29301859;29393594;29769354;29932645;30120231;30315122;30833945;31092671;31154438;31327635;31695197;31844290;31848261;32157095;32161166;32938616;32983136;33257573;33592498;33691108;33968037;34561969;34704252;34943861;35051231;35215835;35580925;35870450;36010968;36193167;36241641;36284347;36629048;38793607;4721607;7596406;7623837;7719337;7790377;8241273;8824437;8858165;8991089;9090381;9090382;9090383;9539740;9653144;9668159;9837948", "class_list": "", "function": "Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty Acids Modulates Dengue Virus Serotype 2 Replication. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels (PubMed:10944470, PubMed:16940157). Displays higher activity toward long chain acyl CoAs (C14-C20) (PubMed:10944470, PubMed:16940157). The enzyme is involved in enhancing the hepatic fatty acid oxidation in mitochondria (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; High Expression of ACOT2 Predicts Worse Overall Survival and Abnormal Lipid Metabolism: A Potential Target for Acute Myeloid Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3I5F8;Q53EK4;Q9NUX4", "ec_number_list": "3.6.1.-;3.6.1.77;3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.42;1.3.3.6;2.3.2.27;3.1.1.4;3.1.1.5;2.3.3.1;7.1.1.2;1.1.1.42;3.6.4.10;1.4.1.3;1.11.1.6;1.2.1.3;6.4.1.3;7.1.2.2;4.2.1.2;1.2.4.1;1.8.1.4;5.6.1.7;2.3.1.168;2.3.1.-;2.3.1.37;3.4.24.56;1.4.3.3;2.6.1.51;2.6.1.44;2.3.1.176;2.3.1.16;2.3.1.155;4.98.1.1;1.1.1.38;2.3.1.9;2.3.2.36;1.2.1.36;1.7.1.-;1.2.1.28;1.14.13.39;4.1.3.4;3.4.21.53;1.1.1.37;5.3.3.8;3.1.2.-;2.3.1.137;2.3.1.7;1.3.8.1;1.3.8.5;1.1.1.41;3.1.2.22;2.3.3.10;2.8.3.5;3.5.3.1;1.2.4.2;1.1.1.30;5.3.3.21;2.3.1.65;2.7.11.2;2.7.11.-;3.4.21.92;1.1.1.35;3.4.21.-;2.7.1.23;3.5.2.6;1.5.3.13;6.2.1.4;5.6.2.3;1.4.3.1;1.1.1.62;1.1.1.239;1.1.1.178;1.1.1.53;1.1.1.159;4.2.1.3;1.1.1.184;1.3.1.38;6.1.1.5;1.3.1.124;3.1.2.14;2.3.1.41;1.1.3.15;1.5.3.1;1.5.3.7;5.1.99.4;4.1.2.63;1.2.3.5;2.5.1.18", "go_molecular_function": "GO:0047617 fatty acyl-CoA hydrolase activity;GO:0052689 carboxylic ester hydrolase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0000038 very long-chain fatty acid metabolic process;GO:0001676 long-chain fatty acid metabolic process;GO:0006631 fatty acid metabolic process;GO:0006637 acyl-CoA metabolic process", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "P49753-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13625-1", "uniprot_id": "ASPP2_HUMAN", "mass": 125616.0, "length": 1128, "protein_name": "Apoptosis-stimulating of p53 protein 2", "gene_name": "TP53BP2", "organism": "Human", "refseq_name": "apoptosis-stimulating of p53 protein 2 isoform 1", "refseq_ac": "NP_001026855", "gene_names_uniprotkb": "TP53BP2; ASPP2; BBP", "gene_names_refseq": "53BP2; ASPP2; BBP; P53BP2; PPP1R13A; TP53BP2", "protein_names_uniprotkb": "Apoptosis-stimulating of p53 protein 2; 53BP2; Bbp; Bcl2-binding protein; Renal carcinoma antigen NY-REN-51; Tumor suppressor p53-binding protein 2; p53-binding protein 2; p53BP2", "protein_names_refseq": "BCL2-binding protein; apoptosis-stimulating of p53 protein 2 isoform 1; apoptosis-stimulating protein of p53, 2; renal carcinoma antigen NY-REN-51; tumor suppressor p53-binding protein 2", "tax_id": 9606, "disease": "chromosome 1q41-q42 deletion syndrome (Disease Ontology:DOID:0060412)", "pathway": " (hsa:7159); (R-HSA-139915); (R-HSA-6803204); (R-HSA-6803205); (R-HSA-6803211); (R-HSA-6804759)", "pathway_count": 6, "publication_count": 165, "publication_id_list": "10.1101/2023.09.13.557529;10329733;10498867;10508479;10631318;10646860;10733530;10777207;10807576;11027272;11030628;11054413;11237011;11382926;11463392;11511362;11572983;11675392;11684014;11714700;11919562;12203124;12402042;12494467;12524540;12606722;12694406;1321151;14614825;14623878;14684737;14729977;14766226;15126337;15144186;15273740;15289308;15377670;15577913;15598651;15607964;15735003;15769996;15797384;15837622;15958553;16140933;16230375;16249378;16382142;17145718;17349958;17442733;17594908;17719541;18275817;18532927;18617898;18669648;18676979;19040420;19303885;19349281;19377469;19377511;19549844;19615968;19690332;20068231;20075864;20353938;21406692;22028470;22334068;22538442;22766503;22864287;22975685;23059823;23182941;23186163;23365256;23481700;23671130;23684607;23931759;24260043;24312625;24714389;24715725;25080938;25356872;25547411;25576301;26071602;26378048;26992070;27600516;27862975;27920218;28218747;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29786170;30059200;30379171;30620550;30779550;31154438;31217245;31492838;31844290;31998317;32157095;32161166;32350084;32387766;32488085;32897882;32938616;32938750;32983136;33141586;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34561969;35051231;35132862;35254053;35318648;35513511;35580925;36010968;36215666;37340703;37541260;37750869;37858684;37938771;39302247;40136647;40307207;7566179;7834749;7991565;8016121;8668206;8875926;9326928", "class_list": "", "function": "ASPP2 binds to hepatitis C virus NS5A protein via an SH3 domain/PxxP motif-mediated interaction and potentiates infection., [RefSeq, PubMed]; Higher TP53BP2 expression is associated with HBsAg loss in peginterferon-alpha-treated patients with chronic hepatitis B., [RefSeq, PubMed]; Regulator that plays a central role in regulation of apoptosis and cell growth via its interactions with proteins such as TP53 (PubMed:12524540). Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo. Inhibits the ability of NAE1 to conjugate NEDD8 to CUL1, and thereby decreases NAE1 ability to induce apoptosis. Impedes cell cycle progression at G2/M. Its apoptosis-stimulating activity is inhibited by its interaction with DDX42., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; TP53BP2 encodes two mRNA species, either with (53BP2) or without exon 3 (ASPP2), by alternative splicing in various cell lines and tissues, [RefSeq, PubMed]; This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B4DG66;Q12892;Q86X75;Q96KQ3", "ec_number_list": "", "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0051059 NF-kappaB binding;GO:0002039 p53 binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030054 cell junction", "go_biological_process": "GO:0007165 signal transduction;GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator;GO:0045786 negative regulation of cell cycle;GO:1900119 positive regulation of execution phase of apoptosis;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "Q13625-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75078-1", "uniprot_id": "ADA11_HUMAN", "mass": 83418.0, "length": 769, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 11", "gene_name": "ADAM11", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 11 isoform 1 preproprotein", "refseq_ac": "NP_002381", "gene_names_uniprotkb": "ADAM11; MDC", "gene_names_refseq": "ADAM11; MDC", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 11; ADAM 11; MDC; Metalloproteinase-like, disintegrin-like, and cysteine-rich protein", "protein_names_refseq": "ADAM 11; disintegrin and metalloproteinase domain-containing protein 11 isoform 1 preproprotein; disintegrin and metalloproteinase domain-containing protein 11; metalloproteinase-like, disintegrin-like, and cysteine-rich protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:4185); (R-HSA-5682910)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11545539;14759258;16990550;17387609;18628660;18772397;18974846;20058876;20162351;20220021;20461023;21829378;29242379;29557506;33968037;37938771;7956356;8252040;9693107", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein. Required for localization of the potassium channel subunit proteins KCNA1/KV1.1 and KCNA2/KV1.2 at cerebellar cortex basket cell distal terminals, is thereby involved in ephaptic inhibitory synchronization of Purkinje cell firing and response to stress (By similarity). Plays a role in spatial learning and motor coordination (By similarity). Involved in the nociceptive pain response to chemical-derived stimulation (By similarity)., [UniProtKB, UniProtKB]; This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 9718, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q14808;Q14809;Q14810", "ec_number_list": "", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0005178 integrin binding;GO:0008237 metallopeptidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0043204 perikaryon;GO:0042734 presynaptic membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0061368 behavioral response to formalin induced pain;GO:0006508 proteolysis;GO:0007229 integrin-mediated signaling pathway;GO:0045184 establishment of protein localization;GO:0033555 multicellular organismal response to stress", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "O75078-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51825-1", "uniprot_id": "AFF1_HUMAN", "mass": 131422.0, "length": 1210, "protein_name": "AF4/FMR2 family member 1", "gene_name": "AFF1", "organism": "Human", "refseq_name": "AF4/FMR2 family member 1 isoform 1", "refseq_ac": "NP_001160165", "gene_names_uniprotkb": "AFF1; AF4; FEL; MLLT2; PBM1", "gene_names_refseq": "AF4; AFF1; FEL; MLLT2; PBM1", "protein_names_uniprotkb": "AF4/FMR2 family member 1; ALL1-fused gene from chromosome 4 protein; Protein AF-4; Protein FEL; Proto-oncogene AF4", "protein_names_refseq": "AF4/FMR2 family member 1 isoform 1; AF4/FMR2 family member 1; ALL1-fused gene from chromosome 4 protein; KMT2A/AFF1 fusion protein; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); pre-B-cell monocytic leukemia partner 1; proto-oncogene AF4; translocated to, 2", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:4299)", "pathway_count": 1, "publication_count": 85, "publication_id_list": "11237011;1423625;15302935;16959974;18669648;18691976;18977325;19369195;19608861;19690332;20068231;20230923;21406692;21574958;22195968;22895430;23186163;23260655;23481700;24029068;24366607;24714562;24715725;25505266;25576301;25880248;26154972;26375851;26728094;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30484775;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;34171305;34211107;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37313815;37528066;37938771;38029383;8443374;8506309", "class_list": "", "function": "Conditional expression of an Mll-AF4 fusion oncogene induces B precursor acute lymphoblastic and acute myeloid leukemias, [RefSeq, PubMed]; Distinct roles of two SEC scaffold proteins, AFF1 and AFF4, in regulating RNA polymerase II transcription elongation., [RefSeq, PubMed]; Functional relevance of circRNA aberrant expression in pediatric acute leukemia with KMT2A::AFF1 fusion., [RefSeq, PubMed]; The structure of AF9 in complex with elongation factor AF4 reveals that aliphatic residues form an integral part of the hydrophobic core of the complex., [RefSeq, PubMed]; This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]., [RefSeq]; [AF4/FMR2 and IL-10 gene single nucleotide polymorphisms are correlated with disease susceptibility and immune infiltration in ankylosing spondylitis]., [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": 18, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "B4DTU1;E9PBM3", "ec_number_list": "", "go_molecular_function": "GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0008023 transcription elongation factor complex;GO:0032783 super elongation complex;GO:0005634 nucleus", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0050877 nervous system process;GO:0006354 DNA-templated transcription elongation;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "P51825-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WTS1-1", "uniprot_id": "ABHD5_HUMAN", "mass": 39096.0, "length": 349, "protein_name": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5", "gene_name": "ABHD5", "organism": "Human", "refseq_name": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a", "refseq_ac": "NP_057090", "gene_names_uniprotkb": "ABHD5; CGI-58; NCIE2", "gene_names_refseq": "ABHD5; CGI58; IECN2; NCIE2", "protein_names_uniprotkb": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5; 2.3.1.51; Abhydrolase domain-containing protein 5; Lipid droplet-binding protein CGI-58", "protein_names_refseq": "1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a; 1-acylglycerol-3-phosphate O-acyltransferase ABHD5; abhydrolase domain-containing protein 5; lipid droplet-binding protein CGI-58", "tax_id": 9606, "disease": "Chanarin-Dorfman syndrome (Disease Ontology:DOID:0050729); autosomal recessive congenital ichthyosis 1 (Disease Ontology:DOID:0060656); colon adenocarcinoma (Disease Ontology:DOID:234); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:51099); (R-HSA-163560)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10671541;11237011;11590543;12832420;15364929;15456755;15967942;16679289;16741517;17308334;17495960;17603008;18606822;18832586;19181555;21504868;27862975;27920218;28510447;28649982;28904123;31154438;31844290;32157095;32938616;33569812;34357683;34449947;34795238;35051231;38042031;39093497", "class_list": "", "function": "ABDH5 gene mutation is found in patients diagnosed with Chanarin Dorfman syndrome., [RefSeq, PubMed]; ABHD5 inhibits YAP-induced c-Met overexpression and colon cancer cell stemness via suppressing YAP methylation. Erratum:[Nat Commun. 2023 Apr 4;14(1):1875. doi: 10.1038/s41467-023-37521-w. PMID: 37015940] Publication Status: Online-Only, [RefSeq, PubMed]; ABHD5-CPT1B: An Important Way of Regulating Placental Lipid Metabolism in Gestational Diabetes Mellitus., [RefSeq, PubMed]; Analysis of a novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome [case report], [RefSeq, PubMed]; CGI-58 facilitates lipolysis in cooperation with perilipin and other factors, including lipases, [RefSeq, PubMed]; CGI-58 interacts with adipose triglyceride lipase, stimulating its TG hydrolase activity up to 20-fold, [RefSeq, PubMed]; CircFAM120A participates in repeated implantation failure by regulating decidualization via the miR-29/ABHD5 axis., [RefSeq, PubMed]; Coenzyme A-dependent lysophosphatidic acid acyltransferase that catalyzes the transfer of an acyl group on a lysophosphatidic acid (PubMed:18606822). Functions preferentially with 1-oleoyl-lysophosphatidic acid followed by 1-palmitoyl-lysophosphatidic acid, 1-stearoyl-lysophosphatidic acid and 1-arachidonoyl-lysophosphatidic acid as lipid acceptor. Functions preferentially with arachidonoyl-CoA followed by oleoyl-CoA as acyl group donors (By similarity). Functions in phosphatidic acid biosynthesis (PubMed:18606822). May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2 (PubMed:16679289). Involved in keratinocyte differentiation (PubMed:18832586). Regulates lipid droplet fusion (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; FOXC1 transcriptionally suppresses ABHD5 to inhibit the progression of renal cell carcinoma through AMPK/mTOR pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Mutational analysis in Chanarin-Dorfman syndrome, [RefSeq, PubMed]; The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]., [RefSeq]; Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9K0;Q9Y369", "ec_number_list": "2.3.1.51;2.3.1.15;2.3.1.-;2.3.1.23;2.3.1.n7;2.3.1.67;2.3.1.25;3.1.1.4;3.1.1.3", "go_molecular_function": "GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity;GO:0042171 lysophosphatidic acid acyltransferase activity;GO:0052689 carboxylic ester hydrolase activity;GO:0004620 phospholipase activity;GO:0060229 lipase activator activity", "go_cellular_component": "GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0006654 phosphatidic acid biosynthetic process;GO:0010898 positive regulation of triglyceride catabolic process;GO:0030154 cell differentiation;GO:0055088 lipid homeostasis", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8WTS1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P41238-1", "uniprot_id": "ABEC1_HUMAN", "mass": 28192.0, "length": 236, "protein_name": "C->U-editing enzyme APOBEC-1", "gene_name": "APOBEC1", "organism": "Human", "refseq_name": "C->U-editing enzyme APOBEC-1 isoform a", "refseq_ac": "NP_001291495", "gene_names_uniprotkb": "APOBEC1", "gene_names_refseq": "APO1; APOBEC-1; APOBEC1; BEDP; CDAR1; HEPR", "protein_names_uniprotkb": "C->U-editing enzyme APOBEC-1; 3.5.4.-; 3.5.4.36; APO1; APOBEC-1; Apolipoprotein B mRNA-editing enzyme 1; Apolipoprotein B mRNA-editing enzyme catalytic subunit 1; HEPR; mRNA(cytosine(6666)) deaminase 1", "protein_names_refseq": "C->U-editing enzyme APOBEC-1 isoform a; C->U-editing enzyme APOBEC-1; apolipoprotein B mRNA editing enzyme complex-1; apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1; apolipoprotein B mRNA-editing enzyme 1; mRNA(cytosine(6666)) deaminase 1", "tax_id": 9606, "disease": "familial hyperlipidemia (Disease Ontology:DOID:1168); colon cancer (Disease Ontology:DOID:219); liver benign neoplasm (Disease Ontology:DOID:916); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:339); (R-HSA-72200); (R-HSA-75094)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "11237011;11352648;11718896;11727199;15659357;22580899;24916387;30844405;31844290;32488085;33330905;33602235;35051231;36100631;36702998;38708190;8078915;8208612;8999813;9186903;9479499", "class_list": "", "function": "APOBEC mutagenesis is a common process in normal human small intestine., [RefSeq, PubMed]; APOBEC1 cytosine deaminase activity on single-stranded DNA is suppressed by replication protein A., [RefSeq, PubMed]; Cytidine deaminase catalyzing the cytidine to uridine postranscriptional editing of a variety of mRNAs (PubMed:30844405). Form complexes with cofactors that confer differential editing activity and selectivity. Responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in the apolipoprotein B mRNA (PubMed:24916387). Also involved in CGA (Arg) to UGA (Stop) editing in the NF1 mRNA (PubMed:11727199). May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Harnessing A3G for efficient and selective C-to-T conversion at C-rich sequences. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of RBM46 as a novel APOBEC1 cofactor for C-to-U RNA-editing activity., [RefSeq, PubMed]; The roles of APOBEC-mediated RNA editing in SARS-CoV-2 mutations, replication and fitness. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9UE64;Q9UM71", "ec_number_list": "3.5.4.38;3.5.4.-;3.5.4.36", "go_molecular_function": "GO:0003723 RNA binding;GO:0004126 cytidine deaminase activity;GO:0008270 zinc ion binding;GO:0035925 mRNA 3'-UTR AU-rich region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0030895 apolipoprotein B mRNA editing enzyme complex", "go_biological_process": "GO:0044029 positive regulation of gene expression via chromosomal CpG island demethylation;GO:0006397 mRNA processing;GO:0006629 lipid metabolic process;GO:0016554 cytidine to uridine editing;GO:0016556 mRNA modification", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P41238-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P20848-1", "uniprot_id": "A1ATR_HUMAN", "mass": 47707.0, "length": 421, "protein_name": "Alpha-1-antitrypsin-related protein", "gene_name": "SERPINA2", "organism": "Human", "refseq_name": "alpha-1-antitrypsin-related protein precursor", "refseq_ac": "NP_006211", "gene_names_uniprotkb": "SERPINA2; ARGS; ATR; PIL; SERPINA2P", "gene_names_refseq": "ARGS; ATR; PIL; SERPINA2P; SERPINA2; psiATR", "protein_names_uniprotkb": "Alpha-1-antitrypsin-related protein; AAT-related protein; Protease inhibitor 1-like; Serpin A2", "protein_names_refseq": "AAT-related protein; alpha-1 antitrypsin-related protein; alpha-1-antitrypsin-related protein precursor; putative alpha-1-antitrypsin-related protein; serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2; serpin A2; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2, pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:390502)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11161981;11237011;17135331;18519826;23826168;2842251;9383284", "class_list": "", "function": "Clinical trial and genome-wide association 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]; Putative serine protease inhibitor., [UniProtKB]; Specific features of SERPINA2 include the absence of insoluble aggregates and the insignificant response to cell stress, suggesting that it is a non-polymerogenic protein with divergent activity of SERPINA1. Publication Status: Online-Only, [RefSeq, PubMed]; Study found that a common haplotype in Africa had a 2-kb deletion in the SERPINA2 gene is associated with remarkable long-range homozygozity as if it was quickly driven to high frequency by natural selection acting on an advantageous variant., [RefSeq, PubMed]; This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. The encoded intracellular glycoprotein is localized at the endoplasmic reticulum. This gene is a polymorphic pseudogene, with the non-functional allele being predominant in some populations. Some individuals, as represented by the reference genome allele, contain a 2kb coding region deletion and a start code mutation. [provided by RefSeq, Feb 2014]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "A0A0G2JPK4;S4UD68", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P20848-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P25106-1", "uniprot_id": "ACKR3_HUMAN", "mass": 41493.0, "length": 362, "protein_name": "Atypical chemokine receptor 3", "gene_name": "ACKR3", "organism": "Human", "refseq_name": "atypical chemokine receptor 3", "refseq_ac": "NP_064707", "gene_names_uniprotkb": "ACKR3; CMKOR1; CXCR7; GPR159; RDC1", "gene_names_refseq": "ACKR3; CMKOR1; CXC-R7; CXCR-7; CXCR7; GPR159; RDC-1; RDC1", "protein_names_uniprotkb": "Atypical chemokine receptor 3; C-X-C chemokine receptor type 7; CXC-R7; CXCR-7; Chemokine orphan receptor 1; G protein-coupled receptor 159; G protein-coupled receptor RDC1 homolog; RDC-1", "protein_names_refseq": "C-X-C chemokine receptor type 7; G protein-coupled receptor; G-protein coupled receptor 159; G-protein coupled receptor RDC1 homolog; atypical chemokine receptor 3; chemokine (C-X-C motif) receptor 7; chemokine orphan receptor 1", "tax_id": 9606, "disease": "laryngeal carcinoma (Disease Ontology:DOID:2600); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); oculomotor-abducens synkinesis (MONDO:MONDO:0030976)", "pathway": " (hsa:57007); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 109, "publication_id_list": "10.1101/2023.09.13.557529;10229797;10640743;10706668;10725696;10725697;10781587;11007482;11060282;11237011;12120503;12149255;12554737;12884299;1315461;15067078;15951850;16107333;16455976;16634148;1675791;16923326;16940167;1744577;17804806;1840701;18434541;18577758;18653785;1891716;19255243;19380869;19641136;19664994;20002784;20018651;20161793;20373092;20388803;2078213;20887389;21655198;2217207;22300987;22457824;22698181;23153575;23356288;2423119;2534964;25502872;25880248;25892735;27238288;2748346;28228285;2834384;28514659;28904123;29242379;29557506;2970963;29769354;30315122;3098319;31092671;31154438;31211835;31844290;31848261;32161166;32350084;3260265;33298915;33709176;33717175;33799570;33912179;33936100;34357683;35051231;36010968;37468558;37950281;38472446;39008676;39300240;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518", "class_list": "", "function": "(Microbial infection) Acts as a coreceptor with CXCR4 for a restricted number of HIV isolates., [UniProtKB, PubMed]; Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines CXCL11 and CXCL12/SDF1 (PubMed:16107333, PubMed:19255243, PubMed:19380869, PubMed:20161793, PubMed:22300987). Chemokine binding does not activate G protein-mediated signal transduction but instead induces beta-arrestin recruitment, leading to ligand internalization and activation of MAPK signaling pathway (PubMed:16940167, PubMed:18653785, PubMed:20018651). Required for regulation of CXCR4 protein levels in migrating interneurons, thereby adapting their chemokine responsiveness (PubMed:16940167, PubMed:18653785). In glioma cells, transduces signals via MEK/ERK pathway, mediating resistance to apoptosis. Promotes cell growth and survival (PubMed:16940167, PubMed:20388803). Not involved in cell migration, adhesion or proliferation of normal hematopoietic progenitors but activated by CXCL11 in malignant hemapoietic cells, leading to phosphorylation of ERK1/2 (MAPK3/MAPK1) and enhanced cell adhesion and migration (PubMed:17804806, PubMed:18653785, PubMed:19641136, PubMed:20887389). Plays a regulatory role in CXCR4-mediated activation of cell surface integrins by CXCL12 (PubMed:18653785). Required for heart valve development (PubMed:17804806). Regulates axon guidance in the oculomotor system through the regulation of CXCL12 levels (PubMed:31211835). Acts as a receptor for SHLP2, mediating its effects on activation of proopiomelanocortin neurons in the arcuate nucleus of the hypothalamus which leads to suppression of food intake and increased energy expenditure (PubMed:37468558)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Conformational dynamics underlying atypical chemokine receptor 3 activation., [RefSeq, PubMed]; Crosstalk between purinergic receptor P2Y11 and chemokine receptor CXCR7 is regulated by CXCR4 in human macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; Heterogeneous expression of the atypical chemokine receptor ACKR3 in glioblastoma patient-derived tissue samples and cell cultures. Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of the Hippo/YAP axis by CXCR7 in the tumorigenesis of gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [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": 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": 2, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K6J4;Q53RV4;Q8NE10;Q92938;Q92986", "ec_number_list": "", "go_molecular_function": "GO:0005044 scavenger receptor activity;GO:0015026 coreceptor activity;GO:0016493 C-C chemokine receptor activity;GO:0016494 C-X-C chemokine receptor activity;GO:0019957 C-C chemokine binding", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0009986 cell surface", "go_biological_process": "GO:0001525 angiogenesis;GO:0001570 vasculogenesis;GO:0006955 immune response;GO:0007155 cell adhesion;GO:0007204 positive regulation of cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "P25106-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0PJZ0-1", "uniprot_id": "A20A5_HUMAN", "mass": 18446.0, "length": 165, "protein_name": "Putative ankyrin repeat domain-containing protein 20A5", "gene_name": "ANKRD20A5P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ANKRD20A5P; ANKRD20A5", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ankyrin repeat domain-containing protein 20A5; Ankyrin repeat domain-containing protein 20A5 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q4G1B6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0PJZ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8K2U0-1", "uniprot_id": "A2ML1_HUMAN", "mass": 161107.0, "length": 1454, "protein_name": "Alpha-2-macroglobulin-like protein 1", "gene_name": "A2ML1", "organism": "Human", "refseq_name": "alpha-2-macroglobulin-like protein 1 isoform 2", "refseq_ac": "NP_001269353", "gene_names_uniprotkb": "A2ML1; CPAMD9", "gene_names_refseq": "A2ML1; CPAMD9; OMS; p170", "protein_names_uniprotkb": "Alpha-2-macroglobulin-like protein 1; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 9", "protein_names_refseq": "C3 and PZP-like, alpha-2-macroglobulin domain containing 9; alpha-2-macroglobulin-like protein 1 isoform 2; alpha-2-macroglobulin-like protein 1", "tax_id": 9606, "disease": "otitis media (Disease Ontology:DOID:10754); otitis media, susceptibility to (MONDO:MONDO:0008162)", "pathway": " (hsa:144568)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16298998;18648652;20805888;23090970;24190977;24939586;25645385;26121085;28467828;29557506;29741879;30418433;30524438;31092671;31844290;32983136;33968037;34078123;34087483;34171305;35051231;35580925;35641520;36719978;37954860", "class_list": "", "function": "A new class of target antigens in a paraneoplastic autoimmune multiorgan syndrome Publication Status: Online-Only, [RefSeq, PubMed]; A2ML1 Inhibits Esophageal Squamous Cell Carcinoma Progression and Serves as a Novel Prognostic Biomarker. Publication Status: Online-Only, [RefSeq, PubMed]; Alpha2ML1 binding to the low density lipoprotein receptor-related protein 1 (LRP1) reveals a new role for LRP1 in the human epidermis Publication Status: Online-Only, [RefSeq, PubMed]; Alpha2ML1 is the first alpha2macroglobulin family member detected in the epidermis, where it may play an important role during desquamation by inhibiting extracellular proteases., [RefSeq, PubMed]; Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media., [RefSeq, PubMed]; Cryo-EM structures of human A2ML1 elucidate the protease-inhibitory mechanism of the A2M family. Publication Status: Online-Only, [RefSeq, PubMed]; Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase (By similarity). Displays inhibitory activity against chymotrypsin, papain, thermolysin, subtilisin A and, to a lesser extent, elastase but not trypsin. May play an important role during desquamation by inhibiting extracellular proteases., [UniProtKB, UniProtKB, PubMed]; Our results provide evidence that mutations in A2ML1 are a cause of Noonan-like syndrome, with a variable phenotype ranging from severe to very mild., [RefSeq, PubMed]; Studies support a role for alpha-2-macroglobulin-like 1 protein (A2ML1) in the pathophysiology of otitis media., [RefSeq, PubMed]; This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 2, "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": 6, "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": 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": 71, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B5MDD1;B7Z7V4;D3DUV3;F5H2Z2;Q2M224;Q6ZW52;Q6ZW53;Q8N1M4;Q96LQ8", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0030414 peptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0005576 extracellular region", "go_biological_process": "GO:0052548 regulation of endopeptidase activity", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "A8K2U0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P20309-1", "uniprot_id": "ACM3_HUMAN", "mass": 66128.0, "length": 590, "protein_name": "Muscarinic acetylcholine receptor M3", "gene_name": "CHRM3", "organism": "Human", "refseq_name": "muscarinic acetylcholine receptor M3", "refseq_ac": "NP_000731", "gene_names_uniprotkb": "CHRM3", "gene_names_refseq": "CHRM3; EGBRS; HM3; PBS; m3AChR", "protein_names_uniprotkb": "Muscarinic acetylcholine receptor M3", "protein_names_refseq": "acetylcholine receptor, muscarinic 3; m3 muscarinic receptor; muscarinic acetylcholine receptor M3", "tax_id": 9606, "disease": "small cell carcinoma (Disease Ontology:DOID:0050685); megacystis-microcolon-intestinal hypoperistalsis syndrome (Disease Ontology:DOID:0060610); prune belly syndrome (Disease Ontology:DOID:0060889); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); bladder disease (Disease Ontology:DOID:365); pulmonary fibrosis (Disease Ontology:DOID:3770)", "pathway": " (hsa:1131); (R-HSA-390648); (R-HSA-399997); (R-HSA-416476)", "pathway_count": 4, "publication_count": 79, "publication_id_list": "10.1038/emboj.2013.79;10191087;10567430;10727532;10861009;11015615;11237011;11238933;11588141;11742120;11753430;12120503;12194018;1346637;15014171;1527003;15870063;15951850;16182515;16250841;16268778;16339447;16753580;16754659;16871065;16923326;17081983;17900700;17919190;18383439;18434541;18515384;18577758;18936096;1905813;1994002;21056967;22077972;22222704;22222706;23521066;23584533;24058541;24587893;24839481;25502048;25784251;28327676;2841328;29393594;29557506;29632711;29715053;30429286;30825602;3086311;31211471;32007426;3272174;34357683;3443095;35051231;36919835;37175905;38010846;38641412;5497851;7565628;7937899;7989336;8097411;8132675;8190105;8664309;8925880;9305846;9647869;9770463;9808756", "class_list": "", "function": "Associations of genetic variations in the M3 receptor with salt sensitivity, longitudinal changes in blood pressure and the incidence of hypertension in Chinese adults., [RefSeq, PubMed]; CHRM3-Associated miRNAs May Play a Role in Bile Acid-Induced Proliferation of H508 Colon Cancer Cells., [RefSeq, PubMed]; Muscarinic Acetylcholine Receptor M3 Expression and Survival in Human Colorectal Carcinoma-An Unexpected Correlation to Guide Future Treatment? Publication Status: Online-Only, [RefSeq, PubMed]; The M3 Muscarinic Acetylcholine Receptor Can Signal through Multiple G Protein Families. Publication Status: Online-Only, [RefSeq, PubMed]; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover., [UniProtKB, PubMed]; The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "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": 6, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q0VAJ8;Q4QRI3;Q5VXY2;Q9HB60", "ec_number_list": "", "go_molecular_function": "GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0016907 G protein-coupled acetylcholine receptor activity;GO:0042166 acetylcholine binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0030425 dendrite;GO:0045202 synapse;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0036211 protein modification process;GO:0006940 regulation of smooth muscle contraction;GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007197 adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P20309-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P16219-1", "uniprot_id": "ACADS_HUMAN", "mass": 44297.0, "length": 412, "protein_name": "Short-chain specific acyl-CoA dehydrogenase, mitochondrial", "gene_name": "ACADS", "organism": "Human", "refseq_name": "short-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor", "refseq_ac": "NP_000008", "gene_names_uniprotkb": "ACADS", "gene_names_refseq": "ACAD3; ACADS; SCAD", "protein_names_uniprotkb": "Short-chain specific acyl-CoA dehydrogenase, mitochondrial; 1.3.8.1; Butyryl-CoA dehydrogenase; SCAD", "protein_names_refseq": "acyl-CoA dehydrogenase, C-2 to C-3 short chain; acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain; butyryl-CoA dehydrogenase; epididymis secretory sperm binding protein; mitochondrial short-chain specific acyl-CoA dehydrogenase; short-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor; short-chain specific acyl-CoA dehydrogenase, mitochondrial; unsaturated acyl-CoA reductase", "tax_id": 9606, "disease": "short chain acyl-CoA dehydrogenase deficiency (Disease Ontology:DOID:0080154); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:35); (R-HSA-77350); (R-HSA-77352)", "pathway_count": 3, "publication_count": 38, "publication_id_list": "10231530;11134486;11237011;11470804;11772874;1286669;13295225;13295248;1550553;1692038;17278971;18192838;21237683;2565344;25880248;26992070;27600516;28832583;29242379;29557506;31154438;31844290;32157095;32387766;32938616;33912179;33968037;34357683;34509645;34704412;34790035;3597357;36010968;36883465;7907320;8687463;9383286;9499414", "class_list": "", "function": "Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province., [RefSeq, PubMed]; Short-chain acyl-CoA dehydrogenase is a potential target for the treatment of vascular remodelling., [RefSeq, PubMed]; Short-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (By similarity). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (By similarity). Among the different mitochondrial acyl-CoA dehydrogenases, short-chain specific acyl-CoA dehydrogenase acts specifically on acyl-CoAs with saturated 4 to 6 carbons long primary chains (PubMed:11134486, PubMed:21237683)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "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": "P78331", "ec_number_list": "1.3.8.7;1.3.8.1;1.3.8.4;1.3.8.8;1.3.8.5", "go_molecular_function": "GO:0003995 acyl-CoA dehydrogenase activity;GO:0050660 flavin adenine dinucleotide binding;GO:0016937 short-chain fatty acyl-CoA dehydrogenase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase;GO:0046359 butyrate catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "P16219-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01023-1", "uniprot_id": "A2MG_HUMAN", "mass": 163291.0, "length": 1474, "protein_name": "Alpha-2-macroglobulin", "gene_name": "A2M", "organism": "Human", "refseq_name": "alpha-2-macroglobulin isoform a precursor", "refseq_ac": "NP_000005", "gene_names_uniprotkb": "A2M; CPAMD5; FWP007", "gene_names_refseq": "A2MD; A2M; CPAMD5; FWP007; S863-7", "protein_names_uniprotkb": "Alpha-2-macroglobulin; Alpha-2-M; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5", "protein_names_refseq": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5; alpha-2-M; alpha-2-macroglobulin isoform a precursor", "tax_id": 9606, "disease": "hepatocellular adenoma (Disease Ontology:DOID:0050868); COVID-19 (Disease Ontology:DOID:0080600); trypanosomiasis (Disease Ontology:DOID:10113); osteonecrosis (Disease Ontology:DOID:10159); Alzheimer's disease (Disease Ontology:DOID:10652); membranous glomerulonephritis (Disease Ontology:DOID:10976); heart disease (Disease Ontology:DOID:114); nephrotic syndrome (Disease Ontology:DOID:1184); background diabetic retinopathy (Disease Ontology:DOID:13208); toxic shock syndrome (Disease Ontology:DOID:14115); Parkinson's disease (Disease Ontology:DOID:14330); obstructive lung disease (Disease Ontology:DOID:2320); multiple sclerosis (Disease Ontology:DOID:2377); cerebral infarction (Disease Ontology:DOID:3526); hemolytic anemia (Disease Ontology:DOID:583); hepatocellular carcinoma (Disease Ontology:DOID:684); peritonitis (Disease Ontology:DOID:8283)", "pathway": " (hsa:2); (R-HSA-114608); (R-HSA-1474228); (R-HSA-8963896); (R-HSA-9855719)", "pathway_count": 5, "publication_count": 166, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1101/2023.09.13.557529;10229672;10386589;10706100;10809722;10986281;11237011;11375993;11872628;12196520;12218066;12727852;12754519;12843408;1370808;1374237;1435334;14630798;14760718;14973287;15234972;15280376;15297306;15591058;15611997;15958533;16133547;16335952;1649600;16548525;16631740;16825321;1692292;1698775;1707161;17071617;1707285;17332331;17354228;17478755;17580958;17604270;17608619;17608959;18434311;18514042;18566446;18658137;19010778;19117535;19139490;19159218;19556522;19571574;19657146;19714641;20068231;20142769;21030783;21081667;21297635;21304106;21441952;21670566;21683246;21784848;21864727;22159414;23035980;23090970;23640497;23719902;23845380;2408344;24279413;24285556;2430963;24530628;25645385;2578463;2579948;2581245;25892735;26992070;27397612;27452731;27726376;27862975;28035807;28467828;28514659;28904123;29314611;29391424;29393594;29519898;29557506;29632711;29671580;29741879;29786170;29789417;30397120;30429286;30459171;30573663;3099750;31154438;31844290;32157095;32350084;32357974;32488085;32938616;32983136;33043033;33091337;33298915;33392160;33592498;33912179;33936100;34019948;34078123;34171305;34185709;34357683;34433824;34725484;34932366;35051231;35251023;35580925;36010968;36215666;36284347;37074911;3756141;37938771;38160662;38235627;38407963;38665916;3877053;38774923;4178758;4703226;6165619;6167263;6172288;6195065;6203908;6457647;6604055;7075587;7547873;8226919;8467233;8626565;9065415;9115292;9148753;9461298;9852107;9865955", "class_list": "", "function": "Alpha-2-Macroglobulin Is a Novel Anticancer Agent., [RefSeq, PubMed]; CCCTC-binding factor suppresses alpha-2-macroglobulin transcription to improve vascular endothelial cell functions in lower extremity arteriosclerosis obliterans., [RefSeq, PubMed]; Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region, a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase., [UniProtKB]; Tandem Mass Tag-Labeled Quantitative Proteome Analyses Identify C1R and A2M as Novel Serum Biomarkers in Pregnant Women with Obstructive Sleep Apnea., [RefSeq, PubMed]; The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]., [RefSeq]; [Pathogenetic role of multifunctional protein alpha-2-macroglobulin and its activity in tears and serum in age-related macular degeneration and proliferative diabetic retinopathy]., [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": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 61, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 172, "disease_count": 17, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "Q13677;Q59F47;Q5QTS0;Q68DN2;Q6PIY3;Q6PN97", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0005102 signaling receptor binding;GO:0019838 growth factor binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0031093 platelet alpha granule lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001869 negative regulation of complement activation, lectin pathway", "synthesized_glycan_count": 0, "hit_score": 35.5, "record_id": "P01023-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86TX2-1", "uniprot_id": "ACOT1_HUMAN", "mass": 46277.0, "length": 421, "protein_name": "Acyl-coenzyme A thioesterase 1", "gene_name": "ACOT1", "organism": "Human", "refseq_name": "acyl-coenzyme A thioesterase 1", "refseq_ac": "NP_001032238", "gene_names_uniprotkb": "ACOT1; CTE1", "gene_names_refseq": "ACH2; ACOT1; CTE-1; LACH2", "protein_names_uniprotkb": "Acyl-coenzyme A thioesterase 1; 3.1.2.-; 3.1.2.2; Acyl-CoA thioesterase 1; CTE-Ib; CTE-I; Inducible cytosolic acyl-coenzyme A thioester hydrolase; Long chain acyl-CoA hydrolase; Long chain acyl-CoA thioester hydrolase; Palmitoyl-coenzyme A thioesterase", "protein_names_refseq": "CTE-Ib; CTE-I; acyl-coenzyme A thioesterase 1; inducible cytosolic acyl-coenzyme A thioester hydrolase; long chain acyl-CoA hydrolase; long chain acyl-CoA thioester hydrolase; palmitoyl-coenzyme A thioesterase", "tax_id": 9606, "disease": "", "pathway": " (hsa:641371); (R-HSA-77289)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "11237011;11696000;12882974;15638818;16423998;16934754;16940157;17762044;17953517;18268358;19170545;20338778;20470824;21237683;22465940;22586271;22871024;23700546;23901139;24080521;24732803;25002576;26290611;29555575;29557506;31217245;31844290;32157095;33298915;33912179;34171305;34229054;34357683;34520261;35215835;36109518;38253038;38665916;40596516;4721607;8241273", "class_list": "", "function": "Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty Acids Modulates Dengue Virus Serotype 2 Replication. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels. More active towards saturated and unsaturated long chain fatty acyl-CoAs (C12-C20)., [UniProtKB, PubMed]; Genes ACOT1, GSTM1, SIGLEC14 and UGT2B17 are identified as highly absent genes in gastric cancer population. Publication Status: Online-Only, [RefSeq, PubMed]; That increased expression of ACOT1 is correlated with pivotal clinicopathological parameters and poor prognosis in gastric adenocarcinoma through increased expression of the potential tumor-promoting protein GLI3, [RefSeq, PubMed]; The Thioesterase ACOT1 as a Regulator of Lipid Metabolism in Type 2 Diabetes Detected in a Multi-Omics Study of Human 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": 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": "A1L173;Q3I5F9", "ec_number_list": "3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;3.1.1.4;3.1.1.5;3.1.2.-;2.3.1.16;2.3.1.9;3.1.2.22;2.3.1.65;3.5.2.6;3.1.2.14", "go_molecular_function": "GO:0047617 fatty acyl-CoA hydrolase activity;GO:0052689 carboxylic ester hydrolase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0000038 very long-chain fatty acid metabolic process;GO:0001676 long-chain fatty acid metabolic process;GO:0006631 fatty acid metabolic process;GO:0006637 acyl-CoA metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q86TX2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P45381-1", "uniprot_id": "ACY2_HUMAN", "mass": 35735.0, "length": 313, "protein_name": "Aspartoacylase", "gene_name": "ASPA", "organism": "Human", "refseq_name": "aspartoacylase", "refseq_ac": "NP_000040", "gene_names_uniprotkb": "ASPA; ACY2; ASP", "gene_names_refseq": "ACY2; ASPA; ASP", "protein_names_uniprotkb": "Aspartoacylase; 3.5.1.15; ACY-2; Aminoacylase-2", "protein_names_refseq": "ACY-2; aminoacylase 2; aspartoacylase; cytosolic aspartoacylase", "tax_id": 9606, "disease": "Canavan disease (Disease Ontology:DOID:3613)", "pathway": " (hsa:443); (R-HSA-8963693)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10085079;10369257;10407784;10564886;10642534;10909858;11237011;11566871;12205125;12602510;12638939;12706335;14716746;16467855;16669630;17027983;17194761;18293939;19641205;19678840;19807691;22304711;2241899;22718265;23038267;24036223;24155240;24657844;2564390;27045997;28101991;29372909;29393594;31154438;31844290;33914734;34185709;35580925;37391709;4052435;7599639;7668285;8023850;8252036;8659549;9452117", "class_list": "", "function": "Aspartoacylase promotes the process of tumour development and is associated with immune infiltrates in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintenance of intact white matter. In other tissues it acts as a scavenger of NAA from body fluids., [UniProtKB, PubMed, PubMed, PubMed]; Mapping the degradation pathway of a disease-linked aspartoacylase variant. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.5.1.15", "go_molecular_function": "GO:0016788 hydrolase activity, acting on ester bonds;GO:0019807 aspartoacylase activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0006083 acetate metabolic process;GO:0006531 aspartate metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "P45381-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00590-1", "uniprot_id": "ACKR2_HUMAN", "mass": 43443.0, "length": 384, "protein_name": "Atypical chemokine receptor 2", "gene_name": "ACKR2", "organism": "Human", "refseq_name": "atypical chemokine receptor 2", "refseq_ac": "NP_001287", "gene_names_uniprotkb": "ACKR2; CCBP2; CCR10; CMKBR9; D6", "gene_names_refseq": "ACKR2; CCBP2; CCR10; CCR9; CMKBR9; D6; hD6", "protein_names_uniprotkb": "Atypical chemokine receptor 2; C-C chemokine receptor D6; Chemokine receptor CCR-10; Chemokine receptor CCR-9; Chemokine-binding protein 2; Chemokine-binding protein D6", "protein_names_refseq": "C-C chemokine receptor D6; CC-chemokine-binding receptor JAB61; atypical chemokine receptor 2; chemokine (C-C motif) receptor 9; chemokine (C-C) receptor 9; chemokine receptor CCR-10; chemokine receptor CCR-9; chemokine receptor D6; chemokine-binding protein 2; chemokine-binding protein D6", "tax_id": 9606, "disease": "", "pathway": " (hsa:1238); (R-HSA-380108)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10229797;10640743;10706668;10725696;10725697;10781587;11060282;11237011;11238036;12149255;12554737;12884299;15067078;16107333;1744577;18201974;1840701;1891716;20002784;20058876;20373092;2078213;2217207;22651933;22698181;22939232;23125030;23356288;23479571;23481700;23633677;2423119;29242379;2970963;3098319;32056543;32157095;3260265;33374792;34357683;35051231;35677043;37882761;38175886;7602097;7622448;7642634;7679328;7851893;7875320;8048929;8383238;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9364936;9390561;9405404;9463416;9618518", "class_list": "", "function": "Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis (PubMed:18201974, PubMed:20373092, PubMed:23479571). Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor (PubMed:18201974, PubMed:20373092, PubMed:23479571). Acts as a receptor for chemokines including CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL17, CCL22, CCL23, CCL24, SCYA2/MCP-1, SCY3/MIP-1-alpha, SCYA5/RANTES and SCYA7/MCP-3 (PubMed:18201974, PubMed:20373092, PubMed:23479571). Upon active ligand stimulation, activates a beta-arrestin 1 (ARRB1)-dependent, G protein-independent signaling pathway that results in the phosphorylation of the actin-binding protein cofilin (CFL1) through a RAC1-PAK1-LIMK1 signaling pathway (PubMed:23633677). Activation of this pathway results in up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation (PubMed:23633677). By scavenging chemokines in tissues, on the surfaces of lymphatic vessels, and in placenta, plays an essential role in the resolution (termination) of the inflammatory response and in the regulation of adaptive immune responses (PubMed:23479571). Plays a major role in the immune silencing of macrophages during the resolution of inflammation (By similarity). Acts as a regulator of inflammatory leukocyte interactions with lymphatic endothelial cells (LECs) and is required for immature/mature dendritic cells discrimination by LECs (PubMed:23479571)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Biphasic Expression of Atypical Chemokine Receptor (ACKR) 2 and ACKR4 in Colorectal Neoplasms in Association with Histopathological Findings. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of ACKR2 in placentas from different types of preeclampsia., [RefSeq, PubMed]; Pan-cancer analysis of the prognostic significance of ACKR2 expression and the related genetic/epigenetic dysregulations., [RefSeq, PubMed]; The Role of Atypical Chemokine Receptor D6 (ACKR2) in Physiological and Pathological Conditions; Friend, Foe, or Both? Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [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": 9, "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": "B2R8Y8;O00537;Q53YA1;Q86UN9;Q96A02", "ec_number_list": "", "go_molecular_function": "GO:0004950 chemokine receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0019957 C-C chemokine binding;GO:0140319 receptor decoy activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0005884 actin filament;GO:0005886 plasma membrane;GO:0055037 recycling endosome", "go_biological_process": "GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0019722 calcium-mediated signaling;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "O00590-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P02708-2", "uniprot_id": "ACHA_HUMAN", "mass": 51839.0, "length": 457, "protein_name": "Acetylcholine receptor subunit alpha", "gene_name": "CHRNA1", "organism": "Human", "refseq_name": "acetylcholine receptor subunit alpha isoform b precursor", "refseq_ac": "NP_000070", "gene_names_uniprotkb": "CHRNA1; ACHRA; CHNRA", "gene_names_refseq": "ACHRA; ACHRD; CHRNA1; CHRNA; CMS1A; CMS1B; CMS2A; FCCMS; SCCMS", "protein_names_uniprotkb": "Acetylcholine receptor subunit alpha", "protein_names_refseq": "acetylcholine receptor subunit alpha isoform b precursor; acetylcholine receptor subunit alpha; acetylcholine receptor, nicotinic, alpha 1 (muscle); cholinergic receptor, nicotinic alpha 1; cholinergic receptor, nicotinic, alpha 1 (muscle); cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle); muscle nicotinic acetylcholine receptor; nicotinic acetylcholine receptor alpha subunit; nicotinic cholinergic receptor alpha 1", "tax_id": 9606, "disease": "contractures, pterygia, and spondylocarpotarsal fusion syndrome (Disease Ontology:DOID:0080110); congenital myasthenic syndrome 1B (Disease Ontology:DOID:0110662); congenital myasthenic syndrome 1A (Disease Ontology:DOID:0110663); alcohol use disorder (Disease Ontology:DOID:1574); congenital myasthenic syndrome (Disease Ontology:DOID:3635); myasthenia gravis (Disease Ontology:DOID:437)", "pathway": " (hsa:1134); (R-HSA-629594); (R-HSA-629597)", "pathway_count": 3, "publication_count": 32, "publication_id_list": "10195214;10496184;10945867;12588888;12810063;15079006;15609996;16685696;16891216;1694127;1714600;18252226;19059502;19890000;2449458;27375219;29242379;29688589;31855720;3338555;33476802;33652901;6688857;7619526;7725386;8441631;8671616;8788941;8872460;9158151;9221765;9233656", "class_list": "", "function": "CHRNA1 promotes the pathogenesis of primary focal hyperhidrosis., [RefSeq, PubMed]; In our analysis, we found one pair of SNPs in CHRNA1 and CHRNA7, plus one pair of SNPs in CHRNA2 and CHRNA3 reached corrected significance in tests for GxG interaction. Our study suggested evidence of interactions between CHRNs in controlling the risk of NSCL/P., [RefSeq, PubMed]; Non functional acetylcholine receptor alpha subunit which is not integrated into functional acetylcholine-gated cation-selective channels., [UniProtKB, PubMed]; Point Mutations of Nicotinic Receptor alpha1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia. Publication Status: Online-Only, [RefSeq, PubMed]; Serum AChR alpha1 subunit protein concentrations were higher in patients with ant-AChR antibody-positive myasthenia gravis than those in controls., [RefSeq, PubMed]; The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]., [RefSeq]; Upon acetylcholine binding, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane., [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": 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": 7, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DRV6;D3DPE8", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0015464 acetylcholine receptor activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:0042166 acetylcholine binding;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0009986 cell surface;GO:0031594 neuromuscular junction;GO:0045202 synapse", "go_biological_process": "GO:0003009 skeletal muscle contraction;GO:0007271 synaptic transmission, cholinergic;GO:0007274 neuromuscular synaptic transmission;GO:0007528 neuromuscular junction development;GO:0019228 neuronal action potential", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "P02708-2", "record_type": "protein" }, { "uniprot_canonical_ac": "P04217-1", "uniprot_id": "A1BG_HUMAN", "mass": 54254.0, "length": 495, "protein_name": "Alpha-1B-glycoprotein", "gene_name": "A1BG", "organism": "Human", "refseq_name": "alpha-1B-glycoprotein precursor", "refseq_ac": "NP_570602", "gene_names_uniprotkb": "A1BG", "gene_names_refseq": "A1BG; A1B; ABG; GAB; HYST2477", "protein_names_uniprotkb": "Alpha-1B-glycoprotein; Alpha-1-B glycoprotein", "protein_names_refseq": "HEL-S-163pA; alpha-1B-glycoprotein precursor; epididymis secretory sperm binding protein Li 163pA", "tax_id": 9606, "disease": "", "pathway": " (hsa:1); (R-HSA-114608); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "37268159;11237011;1435334;14630798;14760718;15221005;15297306;15461460;16335952;19838169;23090970;23284758;23418544;23481700;23640497;23650620;23690342;24279413;24417605;25548167;26992070;28832583;29242379;29557506;29632711;29671580;29741879;29786170;30429286;30459171;31154438;31844290;32125861;32157095;32983136;34171305;34185709;34357683;3458201;35051231;35289036;35580925;36284347;38253038;6457647;8467233;8692836", "class_list": "", "function": "Cardiovascular outcomes may differ based on A1BG genotype, and antihypertensive treatment strategy., [RefSeq, PubMed]; Data indicate that five important proteins, vimentin, gelsolin, alpha 2 HS glycoprotein (AHSG), glial fibrillary acidic protein (GFAP), and alpha1B-glycoprotein (A1BG) were expressed higher in Rheumatoid arthritis (RA) synovial fluid than non-RA samples., [RefSeq, PubMed]; Overexpression of serum A1BG is associated with non-small cell lung cancer., [RefSeq, PubMed]; The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 29, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A8K052;Q68CK0;Q8IYJ6;Q96P39", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031093 platelet alpha granule lumen;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0060396 growth hormone receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "P04217-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05408-1", "uniprot_id": "7B2_HUMAN", "mass": 23730.0, "length": 212, "protein_name": "Neuroendocrine protein 7B2", "gene_name": "SCG5", "organism": "Human", "refseq_name": "neuroendocrine protein 7B2 isoform 1 precursor", "refseq_ac": "NP_001138229", "gene_names_uniprotkb": "SCG5; SGNE1", "gene_names_refseq": "7B2; P7B2; SCG5; SGNE1; SgV", "protein_names_uniprotkb": "Neuroendocrine protein 7B2; Pituitary polypeptide; Secretogranin V; Secretogranin-5; Secretory granule endocrine protein I", "protein_names_refseq": "neuroendocrine protein 7B2 isoform 1 precursor; neuroendocrine protein 7B2; pituitary polypeptide; prohormone convertase chaperone; secretogranin-5; secretory granule endocrine protein I; secretory granule, neuroendocrine protein 1 (7B2 protein)", "tax_id": 9606, "disease": "pituitary-dependent Cushing's disease (Disease Ontology:DOID:3946)", "pathway": " (hsa:6447)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;11439082;1989596;24042052;25811241;27984123;29557506;30078552;31154438;3134253;31844290;31848261;32157095;32938616;33592498;35051231;35580925;36284347;37938771;6625600;7913882;8617287", "class_list": "", "function": "7B2 chaperones blocked the cytotoxic effects of exogenous hIAPP, [RefSeq, PubMed]; Acts as a molecular chaperone for PCSK2/PC2, preventing its premature activation in the regulated secretory pathway. Binds to inactive PCSK2 in the endoplasmic reticulum and facilitates its transport from there to later compartments of the secretory pathway where it is proteolytically matured and activated. Also required for cleavage of PCSK2 but does not appear to be involved in its folding. Plays a role in regulating pituitary hormone secretion. The C-terminal peptide inhibits PCSK2 in vitro., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Describe a hereditary mixed polyposis syndrome in which is characterized by SCG5-GREM1 duplication., [RefSeq, PubMed]; FAM20C plays a role in 7B2-mediated proPC2 activation by phosphorylating residue Thr111; and that 7B2 function is regulated by alternative splicing., [RefSeq, PubMed]; This gene encodes a secreted chaperone protein that prevents the aggregation of other secreted proteins, including proteins that are associated with neurodegenerative and metabolic disease. The encoded protein may be best known for its role in the trafficking and activation of prohormone convertase PC2 (encoded by Gene ID: 5126). Phosphorylation of the encoded protein has been shown to have an inhibitory effect on its chaperone function. This gene also produces a ARHGAP11A-SCG5 readthrough transcript and ARHGAP11A-SCG5 protein. [provided by RefSeq, Feb 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": 2, "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": "P01164;Q6FHD0;Q9BS38", "ec_number_list": "", "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0005525 GTP binding;GO:0051082 unfolded protein binding;GO:0030234 enzyme regulator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0030141 secretory granule", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0007218 neuropeptide signaling pathway;GO:0016486 peptide hormone processing;GO:0046883 regulation of hormone secretion", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "P05408-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P11229-1", "uniprot_id": "ACM1_HUMAN", "mass": 51421.0, "length": 460, "protein_name": "Muscarinic acetylcholine receptor M1", "gene_name": "CHRM1", "organism": "Human", "refseq_name": "muscarinic acetylcholine receptor M1", "refseq_ac": "NP_000729", "gene_names_uniprotkb": "CHRM1", "gene_names_refseq": "CHRM1; HM1; M1R; M1", "protein_names_uniprotkb": "Muscarinic acetylcholine receptor M1", "protein_names_refseq": "acetylcholine receptor, muscarinic 1; muscarinic acetylcholine receptor M1", "tax_id": 9606, "disease": "Lambert-Eaton myasthenic syndrome (Disease Ontology:DOID:0050214); asthma (Disease Ontology:DOID:2841); myasthenia gravis (Disease Ontology:DOID:437)", "pathway": " (hsa:1128); (R-HSA-390648); (R-HSA-416476)", "pathway_count": 3, "publication_count": 57, "publication_id_list": "10191087;10567430;10727532;10861009;11015615;11237011;11742120;11753430;12120503;1346637;1445347;15086532;15951850;16182515;16250841;16268778;16339447;16754659;16923326;18434541;18515384;18577758;18936096;1905813;1994002;21056967;22222704;22222706;2336407;24587893;24839481;25502048;28327676;2841328;29715053;30825602;3086311;31211471;32007426;32205868;32646996;3272174;33143542;34212451;3443095;34806612;36155524;3697105;37074911;5497851;7937899;8097411;8664309;8925880;9305846;9647869;9770463", "class_list": "", "function": "Contributions of cholinergic receptor muscarinic 1 and CYP1A2 gene variants on the effects of plasma ratio of clozapine/N-desmethylclozapine on working memory in schizophrenia., [RefSeq, PubMed]; Loss of Cholinergic Receptor Muscarinic 1 (CHRM1) Protein in the Hippocampus and Temporal Cortex of a Subset of Individuals with Alzheimer's Disease, Parkinson's Disease, or Frontotemporal Dementia: Implications for Patient Survival., [RefSeq, PubMed]; Muscarinic Receptors Expression in the Peripheral Blood Cells Differentiate Dementia with Lewy Bodies from Alzheimer's Disease., [RefSeq, PubMed]; Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy., [RefSeq, PubMed]; Muscarinic receptors promote castration-resistant growth of prostate cancer through a FAK-YAP signaling axis., [RefSeq, PubMed]; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover., [UniProtKB, UniProtKB, UniProtKB]; The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 9859, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q96RH1", "ec_number_list": "", "go_molecular_function": "GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0016907 G protein-coupled acetylcholine receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite;GO:0043679 axon terminus", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007197 adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway;GO:0007207 phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway;GO:0007213 G protein-coupled acetylcholine receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "P11229-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P32297-2", "uniprot_id": "ACHA3_HUMAN", "mass": 57480.0, "length": 505, "protein_name": "Neuronal acetylcholine receptor subunit alpha-3", "gene_name": "CHRNA3", "organism": "Human", "refseq_name": "neuronal acetylcholine receptor subunit alpha-3 isoform 1 precursor", "refseq_ac": "NP_000734", "gene_names_uniprotkb": "CHRNA3; NACHRA3", "gene_names_refseq": "BAIPRCK; CHRNA3; LNCR2; NACHRA3; PAOD2", "protein_names_uniprotkb": "Neuronal acetylcholine receptor subunit alpha-3", "protein_names_refseq": "cholinergic receptor, nicotinic alpha 3; cholinergic receptor, nicotinic, alpha 3 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 3; neuronal acetylcholine receptor subunit alpha-3 isoform 1 precursor; neuronal nicotinic acetylcholine receptor, alpha3 subunit", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); stomach cancer (Disease Ontology:DOID:10534); lung cancer (Disease Ontology:DOID:1324); depressive disorder (Disease Ontology:DOID:1596); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); lung carcinoma (Disease Ontology:DOID:3905); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); lung small cell carcinoma (Disease Ontology:DOID:5409); cocaine dependence (Disease Ontology:DOID:9975); urinary bladder, atony of (MONDO:MONDO:0008630)", "pathway": " (hsa:1136); (R-HSA-629587); (R-HSA-629594); (R-HSA-629597)", "pathway_count": 4, "publication_count": 35, "publication_id_list": "10945867;11118490;11450844;12810063;15609996;16120769;16497976;18385676;18385720;18385738;18385739;19059502;1989896;20881005;2336208;26265139;27344019;27600516;29557506;31488329;31708116;33578531;33583893;33947782;34087483;34171305;35051231;36010968;36078193;37938771;8663494;8906617;8987816;9009220;9921897", "class_list": "", "function": "Association of Polymorphism CHRNA5 and CHRNA3 Gene in People Addicted to Nicotine. Publication Status: Online-Only, [RefSeq, PubMed]; Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (PubMed:31488329, PubMed:31708116). CHRNA3 forms heteropentameric neuronal acetylcholine receptors with CHRNB2 and CHRNB4, with CHRNA5, and CHRNB3 as accesory subunits (PubMed:20881005, PubMed:8663494). CHRNA3:CHRNB4 being predominant in neurons of the autonomic ganglia, it is known as ganglionic nicotinic receptor (PubMed:31488329). CHRNA3:CHRNB4 or CHRNA3:CHRNA5:CHRNB4 play also an important role in the habenulo-interpeduncular tract, modulating the mesolimbic dopamine system and affecting reward circuits and addiction (By similarity). Hypothalamic CHRNA3:CHRNB4 nAChR activation by nicotine leads to activation of POMC neurons and a decrease in food intake (By similarity). Also expressed in the urothelium where it modulates reflex bladder activity by increasing intracellular calcium through extracellular influx and basal ATP release (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants., [RefSeq, PubMed]; Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM)-like Symptoms Associated with Anti-ganglionic Acetylcholine Receptor Antibodies., [RefSeq, PubMed]; The relationship between CHRNA5/A3/B4 gene cluster polymorphisms and lung cancer risk: An updated meta-analysis and systematic review., [RefSeq, PubMed]; This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 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": 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": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q15823;Q4KMN8;Q86U77;Q96RH3;Q99553;Q9BQ93;Q9BRR4", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0015276 ligand-gated monoatomic ion channel activity;GO:0015464 acetylcholine receptor activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:0042166 acetylcholine binding", "go_cellular_component": "GO:0034703 cation channel complex;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0006940 regulation of smooth muscle contraction;GO:0007165 signal transduction;GO:0007271 synaptic transmission, cholinergic;GO:0007274 neuromuscular synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "P32297-2", "record_type": "protein" }, { "uniprot_canonical_ac": "P42684-1", "uniprot_id": "ABL2_HUMAN", "mass": 128343.0, "length": 1182, "protein_name": "Tyrosine-protein kinase ABL2", "gene_name": "ABL2", "organism": "Human", "refseq_name": "tyrosine-protein kinase ABL2 isoform d", "refseq_ac": "NP_001129472", "gene_names_uniprotkb": "ABL2; ABLL; ARG", "gene_names_refseq": "ABL2; ABLL; ARG", "protein_names_uniprotkb": "Tyrosine-protein kinase ABL2; 2.7.10.2; Abelson murine leukemia viral oncogene homolog 2; Abelson tyrosine-protein kinase 2; Abelson-related gene protein; Tyrosine-protein kinase ARG", "protein_names_refseq": "Abelson tyrosine-protein kinase 2; abelson-related gene protein; c-abl oncogene 2, non-receptor tyrosine kinase; tyrosine-protein kinase ABL2 isoform d; tyrosine-protein kinase ARG; v-abl Abelson murine leukemia viral oncogene homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:27); (R-HSA-428890); (R-HSA-9013149); (R-HSA-9013423); (R-HSA-9706369)", "pathway_count": 5, "publication_count": 321, "publication_id_list": "10.1101/2023.09.13.557529;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10699171;10699464;10873802;10892742;10958683;11007481;11058585;11085924;11149925;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11956649;11961559;12024036;12071859;12093360;12096337;12195014;12221096;12351724;12432077;12531887;12546821;12547822;12650940;12665586;12748290;12775773;12857875;12877655;12923183;14512443;14514689;1464587;14675773;14718541;14729179;15023524;15033976;15064355;15107133;15133129;15147912;15302923;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15735735;15850391;15858067;15886098;15897194;16002401;16112081;16116428;16184169;16243036;16473593;16492808;16507994;16519628;16636067;16678104;16684964;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16964243;16968698;17077126;17081983;17110436;17145773;17196961;17214551;17244649;17306540;17322306;17344846;17446348;17525332;17583407;17599059;17702745;17765681;17804252;17976533;18006505;18045877;18182299;18192505;18218625;18249095;18347018;18396277;18426980;18653540;18669648;18691976;18697831;18767875;18810762;18838382;18945674;19269969;19276253;19369195;19381274;19413330;19494238;19534724;19605563;19651622;19664994;19673492;19690332;19713215;19934221;20068231;20400958;20460433;20679435;20810653;20841568;21072051;21148482;21262971;21406692;21417343;21542010;21565175;21613211;21730051;21865595;2198571;21989057;22004470;22096251;22297987;22298643;22407364;22438257;22475431;22608513;22734669;22942183;22952242;22970203;23186163;23209303;23255595;23288169;23300935;23434736;23548639;23572525;23707487;23707526;23718289;23940355;24086303;24259668;24275569;24335996;24352656;24705897;24715725;24859002;24933155;24960694;25024229;25211221;25418920;25428919;25645385;25704760;25721503;25795300;25862245;26129894;26154972;26308771;26529257;26628301;26887924;26992070;27117132;27145964;27216196;27458164;27481945;27555588;27566826;27600516;27666490;27713499;27806292;28086240;28114311;28121444;28196833;28356423;28611190;28832583;28904123;29089502;29242379;29358323;29382922;29393594;29485866;29557506;29632711;29786170;29880609;30315122;30429286;30779550;30833945;30853411;31066629;31154438;31844290;31848261;31871319;32157095;32203420;32357974;32387766;32488085;32897882;32938616;32983136;33592498;33912179;33968037;34087483;34144039;34561969;35051231;35494241;35561310;35580925;36010968;36215666;36284347;36689065;37479901;3787260;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9252344;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9843499;9988689", "class_list": "", "function": "Abl2 Kinase Differentially Regulates iGluRs Current Activity and Synaptic Localization., [RefSeq, PubMed]; Non-receptor tyrosine-protein kinase that plays an ABL1-overlapping role in key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion and receptor endocytosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like MYH10 (involved in movement); CTTN (involved in signaling); or TUBA1 and TUBB (microtubule subunits). Binds directly F-actin and regulates actin cytoskeletal structure through its F-actin-bundling activity. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as CRK, CRKL, DOK1 or ARHGAP35. Adhesion-dependent phosphorylation of ARHGAP35 promotes its association with RASA1, resulting in recruitment of ARHGAP35 to the cell periphery where it inhibits RHO. Phosphorylates multiple receptor tyrosine kinases like PDGFRB and other substrates which are involved in endocytosis regulation such as RIN1. In brain, may regulate neurotransmission by phosphorylating proteins at the synapse. ABL2 also acts as a regulator of multiple pathological signaling cascades during infection. Pathogens can highjack ABL2 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1. Positively regulates chemokine-mediated T-cell migration, polarization, and homing to lymph nodes and immune-challenged tissues, potentially via activation of NEDD9/HEF1 and RAP1 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Platelet-derived growth factor receptor beta activates Abl2 via direct binding and phosphorylation., [RefSeq, PubMed]; This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]., [RefSeq]; Tumor-suppressive action of miR-30a-5p in lung adenocarcinoma correlates with ABL2 inhibition and PI3K/AKT pathway inactivation., [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": 67, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "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": "A0M8X0;B7UEF2;B7UEF3;B7UEF4;B7UEF5;Q5T0X6;Q5W0C5;Q6NZY6;Q7Z301", "ec_number_list": "2.7.11.1;2.7.12.2;3.1.4.4;2.7.10.1;2.7.10.2;2.7.12.1;1.6.3.-;2.7.1.40;2.7.1.32;2.7.1.82;2.7.10.4;2.7.1.153;2.7.1.137;3.6.5.2;2.7.11.13;2.7.11.23", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0001784 phosphotyrosine residue binding;GO:0003785 actin monomer binding;GO:0004672 protein kinase activity;GO:0004713 protein tyrosine kinase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0036211 protein modification process;GO:1903905 positive regulation of establishment of T cell polarity;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007204 positive regulation of cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 32.6, "record_id": "P42684-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q04844-1", "uniprot_id": "ACHE_HUMAN", "mass": 54697.0, "length": 493, "protein_name": "Acetylcholine receptor subunit epsilon", "gene_name": "CHRNE", "organism": "Human", "refseq_name": "acetylcholine receptor subunit epsilon precursor", "refseq_ac": "NP_000071", "gene_names_uniprotkb": "CHRNE; ACHRE", "gene_names_refseq": "ACHRE; CHRNE; CMS1A1; CMS1D; CMS1E; CMS2A; CMS4A; CMS4B; CMS4C; FCCMS; FIM1; FIMG1; FIMG; MGI; SCCMS", "protein_names_uniprotkb": "Acetylcholine receptor subunit epsilon", "protein_names_refseq": "AchR epsilon subunit; acetylcholine receptor subunit epsilon precursor; acetylcholine receptor subunit epsilon; acetylcholine receptor, nicotinic, epsilon (muscle); cholinergic receptor, nicotinic epsilon; cholinergic receptor, nicotinic, epsilon (muscle); cholinergic receptor, nicotinic, epsilon polypeptide; myasthenia gravis, familial infantile, 1", "tax_id": 9606, "disease": "congenital myasthenic syndrome 4B (Disease Ontology:DOID:0110677); congenital myasthenic syndrome 4A (Disease Ontology:DOID:0110678); congenital myasthenic syndrome 4C (Disease Ontology:DOID:0110679); myasthenia gravis (Disease Ontology:DOID:437)", "pathway": " (hsa:1145); (R-HSA-629587)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10962020;11237011;12141316;15223236;15609996;18649950;19059502;22592360;23481700;27375219;29367459;29383513;29557506;30542963;31844290;35051231;37646703;38995797;7531341;7538206;7688301;8755487;8872460;8987816;9158150", "class_list": "", "function": "Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]., [RefSeq]; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane., [UniProtKB, PubMed]; Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit., [RefSeq, PubMed]; Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. Review article, [RefSeq, PubMed]; Study found a pretest probability of CHRNE c.130dupG mutation of 31.9% in at least one allele of CMS patients, and when considering only homozygous patients the percentage is still high (26.4%); percentages notably increase ifonly patients with impaired eye movement and improvement of symptoms with pyridostigmine are considered., [RefSeq, PubMed]; Study identified 2 potentially novel homozygous mutations in the AChR epsilon-subunit, epsilonR218W at a position equivalent to alphaR209, and E184K at a position equivalent to alphaE175, in 3 unrelated congenital myasthenic patients. Publication Status: Online-Only, [RefSeq, PubMed]; This study report a family with progressive proximal and distal weakness in which an accurate electrophysiological and CHRNE mutation led to a final diagnosis of congenital myasthenic syndromes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "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": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DTK6", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0008324 monoatomic cation transmembrane transporter activity;GO:0015464 acetylcholine receptor activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0031594 neuromuscular junction;GO:0045202 synapse;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0003009 skeletal muscle contraction;GO:0006936 muscle contraction;GO:0007165 signal transduction;GO:0007271 synaptic transmission, cholinergic;GO:0095500 acetylcholine receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q04844-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15018-1", "uniprot_id": "ABRX2_HUMAN", "mass": 46901.0, "length": 415, "protein_name": "BRISC complex subunit Abraxas 2", "gene_name": "ABRAXAS2", "organism": "Human", "refseq_name": "BRISC complex subunit Abraxas 2", "refseq_ac": "NP_115558", "gene_names_uniprotkb": "ABRAXAS2; ABRO1; FAM175B; KIAA0157", "gene_names_refseq": "ABRAXAS2; ABRO1; FAM175B; KIAA0157", "protein_names_uniprotkb": "BRISC complex subunit Abraxas 2; Abraxas brother protein 1; Protein FAM175B", "protein_names_refseq": "BRISC complex subunit Abraxas 2; BRISC complex subunit Abro1; abraxas brother 1; abraxas brother protein 1; family with sequence similarity 175 member B", "tax_id": 9606, "disease": "", "pathway": " (hsa:23172); (R-HSA-5689901)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10.1101/2023.09.13.557529;10383417;12353037;15144186;17081983;17525340;17707232;18452278;18669648;18758443;19202061;19214193;19261749;19415658;19651622;19690332;20032457;20068231;20656690;21195082;21282113;21406692;22544926;22974638;23186163;23246432;23481700;24075985;24366607;24715725;25283148;25645385;26154972;26195665;26344097;26992070;27846572;27862975;27920218;28228285;28510447;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30429286;30524438;31217245;31373491;31844290;32157095;32357974;32387766;32488085;32502341;32845162;32897882;32938616;32983136;33107021;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34725712;34932366;35051231;35561310;35580925;36010968;36215666;36284347;37938771;40596516;40914422", "class_list": "", "function": "ABRO1 stabilizes the deubiquitinase BRCC3 through inhibiting its degradation mediated by the E3 ubiquitin ligase WWP2., [RefSeq, PubMed]; Component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked polyubiquitin, leaving the last ubiquitin chain attached to its substrates (PubMed:19214193, PubMed:20032457, PubMed:20656690, PubMed:24075985). May act as a central scaffold protein that assembles the various components of the BRISC complex and retains them in the cytoplasm (PubMed:20656690). Plays a role in regulating the onset of apoptosis via its role in modulating 'Lys-63'-linked ubiquitination of target proteins (By similarity). Required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activities by enhancing its stability and cell surface expression (PubMed:24075985, PubMed:26344097). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). Required for normal induction of p53/TP53 in response to DNA damage (PubMed:25283148). Independent of the BRISC complex, promotes interaction between USP7 and p53/TP53, and thereby promotes deubiquitination of p53/TP53, preventing its degradation and resulting in increased p53/TP53-mediated transcription regulation and p53/TP53-dependent apoptosis in response to DNA damage (PubMed:25283148)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Transcriptional regulation of human abraxas brother protein 1 expression by yin yang 1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 11, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 6, "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": "B4DKR2;Q96H11", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0031593 polyubiquitin modification-dependent protein binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0002931 response to ischemia;GO:0007059 chromosome segregation;GO:0008608 attachment of spindle microtubules to kinetochore;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q15018-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15822-1", "uniprot_id": "ACHA2_HUMAN", "mass": 59765.0, "length": 529, "protein_name": "Neuronal acetylcholine receptor subunit alpha-2", "gene_name": "CHRNA2", "organism": "Human", "refseq_name": "neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor", "refseq_ac": "NP_000733", "gene_names_uniprotkb": "CHRNA2", "gene_names_refseq": "CHRNA2", "protein_names_uniprotkb": "Neuronal acetylcholine receptor subunit alpha-2; Nicotinic acetylcholine receptor subunit alpha-2", "protein_names_refseq": "acetylcholine receptor, nicotinic, alpha 2 (neuronal); cholinergic receptor, nicotinic alpha 2; cholinergic receptor, nicotinic, alpha 2 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal); neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor; neuronal acetylcholine receptor subunit alpha-2; nicotinic acetylcholine receptor subunit alpha-2", "tax_id": 9606, "disease": "autosomal dominant nocturnal frontal lobe epilepsy 4 (Disease Ontology:DOID:0060685); obsolete benign familial infantile seizures 6 (Disease Ontology:DOID:0081119); alcohol use disorder (Disease Ontology:DOID:1574); asthma (Disease Ontology:DOID:2841); congenital myasthenic syndrome (Disease Ontology:DOID:3635)", "pathway": " (hsa:1135); (R-HSA-629594); (R-HSA-629597)", "pathway_count": 3, "publication_count": 17, "publication_id_list": "10945867;11237011;12810063;16826524;18723036;19059502;24467848;25847220;27493220;29557506;29688589;29785025;30315122;31092671;31209380;35051231;8906617", "class_list": "", "function": "A crystal structure of a human neuronal CHRNA2 extracellular domain in pentameric assembly has been reported., [RefSeq, PubMed]; A heterozygous single-nucleotide substitution in CHRNA2 gene (c.1126 C>T; p. Arg376Trp) in subjects with benign familial infantile seizures, [RefSeq, PubMed]; Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (PubMed:18723036). CHRNA2 forms heteropentameric neuronal acetylcholine receptors with CHRNB2 and CHRNB4 and plays a role in nicotine dependence (PubMed:24467848, PubMed:27493220)., [UniProtKB, PubMed, PubMed, PubMed]; In our analysis, we found one pair of SNPs in CHRNA1 and CHRNA7, plus one pair of SNPs in CHRNA2 and CHRNA3 reached corrected significance in tests for GxG interaction. Our study suggested evidence of interactions between CHRNs in controlling the risk of NSCL/P., [RefSeq, PubMed]; Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]., [RefSeq]; The index variant (rs56372821) is a strong expression quantitative trait locus for CHRNA2; analyses of the genetically regulated gene expression identified a significant association of CHRNA2 expression with cannabis use disorder (CUD) in brain tissue. At the polygenic level, analyses revealed a significant decrease in the risk of CUD with increased load of variants associated with cognitive performance., [RefSeq, PubMed]; These results reveal a beige-selective immune-adipose interaction mediated through CHRNA2 and identify a novel function of nicotinic acetylcholine receptors in energy metabolism., [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": 2, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8KAX3;B4DK19;J3KMY9;Q9HAQ3", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0015464 acetylcholine receptor activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:1901363 heterocyclic compound binding;GO:0050997 quaternary ammonium group binding;GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0034703 cation channel complex;GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0098828 modulation of inhibitory postsynaptic potential;GO:0006811 monoatomic ion transport;GO:0007165 signal transduction;GO:0007271 synaptic transmission, cholinergic;GO:0007274 neuromuscular synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q15822-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16570-1", "uniprot_id": "ACKR1_HUMAN", "mass": 35553.0, "length": 336, "protein_name": "Atypical chemokine receptor 1", "gene_name": "ACKR1", "organism": "Human", "refseq_name": "atypical chemokine receptor 1 isoform a", "refseq_ac": "NP_001116423", "gene_names_uniprotkb": "ACKR1; DARC; FY; GPD", "gene_names_refseq": "ACKR1; CCBP1; CD234; DARC/ACKR1; DARC; Dfy; FY; GPD; GpFy; WBCQ1", "protein_names_uniprotkb": "Atypical chemokine receptor 1; Duffy antigen receptor for chemokines; Duffy antigen/chemokine receptor; Duffy blood group antigen; Fy glycoprotein; Glycoprotein D; GpFy; Plasmodium vivax receptor", "protein_names_refseq": "Duffy antigen chemokine receptor; Duffy antigen receptor for chemokines; Duffy blood group antigen; Duffy blood group system protein; Duffy blood group, chemokine receptor; Fy glycoprotein; atypical chemokine receptor 1 isoform a; bloodgroup FY protein; glycoprotein D; plasmodium vivax receptor; solute carrier family 29 member 1 (augustine blood group)", "tax_id": 9606, "disease": "sickle cell anemia (Disease Ontology:DOID:10923); malaria (Disease Ontology:DOID:12365); Plasmodium vivax malaria (Disease Ontology:DOID:12978); malaria, susceptibility to (MONDO:MONDO:0021024); obsolete blood group, duffy system (MONDO:MONDO:0044219)", "pathway": " (hsa:2532); (R-HSA-375276)", "pathway_count": 2, "publication_count": 125, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10570183;10604470;10854085;10899166;11237011;11279211;11322507;11385580;11457843;11562423;11683476;11773063;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15720550;15720551;15947423;16024106;1655761;1710450;1710578;1719979;1722333;17389925;18127230;18179887;1847994;20373092;22246380;22698181;22912641;23356288;23446738;23690594;24415938;24906252;25706384;2649896;27496565;28800732;3202875;33592498;3366244;34211107;35051231;3525564;37336887;37865156;38039514;38056460;38151287;3856870;39126827;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7663520;7705836;7797512;7833467;7905839;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;8879225;8960115;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9731074;9746760;9792798;9832121;9851594;9886340", "class_list": "", "function": "(Microbial infection) Acts as a receptor for the malaria parasite Plasmodium knowlesi., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for the malaria parasite Plasmodium vivax., [UniProtKB, PubMed]; ACKR1 gene polymorphisms in Bombay blood group (Oh) individuals of Indian origin. Erratum:[Transfus Apher Sci. 2024 Oct;63(5):103992. doi: 10.1016/j.transci.2024.103992. PMID: 39180920], [RefSeq, PubMed]; Allelic frequency variation of ACKR1 in three Algerian populations: Zenata, Reguibat, and Oran., [RefSeq, PubMed]; Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Has a promiscuous chemokine-binding profile, interacting with inflammatory chemokines of both the CXC and the CC subfamilies but not with homeostatic chemokines. Acts as a receptor for chemokines including CCL2, CCL5, CCL7, CCL11, CCL13, CCL14, CCL17, CXCL5, CXCL6, IL8/CXCL8, CXCL11, GRO, RANTES, MCP-1 and TARC. May regulate chemokine bioavailability and, consequently, leukocyte recruitment through two distinct mechanisms: when expressed in endothelial cells, it sustains the abluminal to luminal transcytosis of tissue-derived chemokines and their subsequent presentation to circulating leukocytes; when expressed in erythrocytes, serves as blood reservoir of cognate chemokines but also as a chemokine sink, buffering potential surges in plasma chemokine levels., [UniProtKB, UniProtKB, UniProtKB]; Clinical and immunological features in ACKR1/DARC-associated neutropenia., [RefSeq, PubMed]; Single-cell Transcriptomic Analysis Reveals an Immunosuppressive Network Between POSTN CAFs and ACKR1 ECs in TKI-resistant Lung Cancer., [RefSeq, PubMed]; Structural basis for DARC binding in reticulocyte invasion by Plasmodium vivax. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 23, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8YPG5;O75898;Q16300;Q8WWE3;Q9UJP0;Q9UKZ5;Q9UKZ6;Q9UQE1", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0019957 C-C chemokine binding;GO:0038023 signaling receptor activity;GO:0019956 chemokine binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0055037 recycling endosome;GO:0016020 membrane", "go_biological_process": "GO:0006952 defense response;GO:0006954 inflammatory response;GO:0032642 regulation of chemokine production;GO:0070098 chemokine-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q16570-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3LIE5-1", "uniprot_id": "ADPRM_HUMAN", "mass": 39529.0, "length": 342, "protein_name": "Manganese-dependent ADP-ribose/CDP-alcohol diphosphatase", "gene_name": "ADPRM", "organism": "Human", "refseq_name": "manganese-dependent ADP-ribose/CDP-alcohol diphosphatase", "refseq_ac": "NP_064618", "gene_names_uniprotkb": "ADPRM; C17orf48; MDS006; Nbla03831", "gene_names_refseq": "ADPRM; C17orf48; MDS006; NBLA03831", "protein_names_uniprotkb": "Manganese-dependent ADP-ribose/CDP-alcohol diphosphatase; 3.6.1.16; 3.6.1.53; ADPRibase-Mn; CDP-choline phosphohydrolase", "protein_names_refseq": "ADP-ribose/CDP-alcohol pyrophosphatase; ADPRibase-Mn; CDP-choline phosphohydrolase; manganese-dependent ADP-ribose/CDP-alcohol diphosphatase", "tax_id": 9606, "disease": "", "pathway": " (hsa:56985); (R-HSA-2393930)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "11237011;12767940;12880961;17052728;17567574;18462755;20385596;21389046;22556419;25692488;26758079;29242379;30429286;31844290;33912179;33968037", "class_list": "", "function": "Hydrolyzes ADP-ribose, ADP, CDP-glycerol, CDP-choline, CDP-ethanolamine and cyclic ADP-ribose (cADPR), but not other non-reducing ADP-sugars or CDP-glucose (PubMed:25692488). May be involved in immune cell signaling as suggested by the second-messenger role of ADP-ribose, which activates TRPM2 as a mediator of oxidative/nitrosative stress (By similarity)., [UniProtKB, PubMed, UniProtKB]; Results from homology modeling and simulation studies of docking and molecular dynamics revealed the structural and dynamic information on human ADPRibase-Mn with the catalytic sites. 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": 10, "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": "A8K9B4;D3DTS4;Q9BVD4;Q9NRU8;W0NWJ0", "ec_number_list": "3.6.1.5;3.6.1.6;3.6.1.-;3.6.1.13;3.1.3.1;3.9.1.1;3.6.1.16;3.6.1.53;3.6.1.58;2.7.7.96", "go_molecular_function": "GO:0030145 manganese ion binding;GO:0047631 ADP-ribose diphosphatase activity;GO:0047734 CDP-glycerol diphosphatase activity;GO:0008663 2',3'-cyclic-nucleotide 2'-phosphodiesterase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q3LIE5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q4UJ75-1", "uniprot_id": "A20A4_HUMAN", "mass": 94149.0, "length": 823, "protein_name": "Putative ankyrin repeat domain-containing protein 20A4", "gene_name": "ANKRD20A4P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ANKRD20A4P; ANKRD20A4", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ankyrin repeat domain-containing protein 20A4; Ankyrin repeat domain-containing protein 20A4 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "31844290;32387766;37217939", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q4UJ75-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5SQ80-1", "uniprot_id": "A20A2_HUMAN", "mass": 94087.0, "length": 823, "protein_name": "Putative ankyrin repeat domain-containing protein 20A2", "gene_name": "ANKRD20A2P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ANKRD20A2P; ANKRD20A2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ankyrin repeat domain-containing protein 20A2; Ankyrin repeat domain-containing protein 20A2 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "28904123;33981976", "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": "Q5SQ80-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VST6-1", "uniprot_id": "AB17B_HUMAN", "mass": 32215.0, "length": 288, "protein_name": "Alpha/beta hydrolase domain-containing protein 17B", "gene_name": "ABHD17B", "organism": "Human", "refseq_name": "alpha/beta hydrolase domain-containing protein 17B isoform 2", "refseq_ac": "NP_001020951", "gene_names_uniprotkb": "ABHD17B; C9orf77; CGI-67; FAM108B1", "gene_names_refseq": "ABHD17B; C9orf77; CGI-67; FAM108B1", "protein_names_uniprotkb": "Alpha/beta hydrolase domain-containing protein 17B; 3.1.2.22; Abhydrolase domain-containing protein 17B", "protein_names_refseq": "abhydrolase domain-containing protein 17B; abhydrolase domain-containing protein FAM108B1; alpha/beta hydrolase domain-containing protein 17B isoform 2; alpha/beta hydrolase domain-containing protein 17B; epididymis secretory sperm binding protein; family with sequence similarity 108, member B1; protein ABHD17B", "tax_id": 9606, "disease": "", "pathway": " (hsa:51104); (R-HSA-9648002)", "pathway_count": 2, "publication_count": 126, "publication_id_list": "10085068;10085069;10667208;11038283;11120601;11196150;11585916;11739732;12433685;12727204;12750467;14561760;14660603;14966563;15451670;15659645;16000296;16043511;16483930;18182391;18502828;19188362;20416930;20418879;20622895;20802526;21170358;21661760;21779505;21905185;21905186;22002721;22144181;22179043;22195972;22589270;22721555;23481700;23514631;23698361;23943869;24033119;24715725;24725411;24971579;25550383;25576301;25645385;25713064;25759176;25781681;26085527;26590425;2661017;26701913;26706195;26771141;2682646;26992070;27094677;27396271;27410739;27600516;27697864;27791178;27846572;27920218;28167504;28228285;28467828;28630138;28666118;28778966;28832583;28904123;29242379;29311131;29314611;29393594;29424242;29508533;29557506;29632711;29786170;29789417;30315122;30779550;31092671;31217245;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32877642;33141586;33298915;33537174;33592498;33691108;33927411;33936100;33968037;33981976;34171305;34185709;34357683;34433824;34932366;35051231;35251023;35580925;36010968;36215666;36241641;36284347;9436858;9810004;9822558;9851253", "class_list": "", "function": "ABHD17 regulation of plasma membrane palmitoylation and N-Ras-dependent cancer growth., [RefSeq, PubMed]; Hydrolyzes fatty acids from S-acylated cysteine residues in proteins (PubMed:26701913). Has depalmitoylating activity towards DLG4/PSD95 (PubMed:26701913). Has depalmitoylating activity towards GAP43 (By similarity). Has depalmitoylating activity towards MAP6 (By similarity). Has depalmitoylating activity towards NRAS (PubMed:26701913)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 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": "A8KAJ5;Q5VST7;Q86YB6;Q8IY03;Q9Y377", "ec_number_list": "3.1.2.22;2.3.1.-;3.1.2.-;3.6.5.2;3.1.2.2;3.4.-.-;3.4.19.12;3.1.1.93", "go_molecular_function": "GO:0008474 palmitoyl-(protein) hydrolase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043197 dendritic spine;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:1905668 positive regulation of protein localization to endosome;GO:1902473 regulation of protein localization to synapse;GO:1902950 regulation of dendritic spine maintenance;GO:0002084 protein depalmitoylation;GO:0099175 regulation of postsynapse organization", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q5VST6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VUJ5-1", "uniprot_id": "AGAP7_HUMAN", "mass": 73211.0, "length": 663, "protein_name": "Putative Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7", "gene_name": "AGAP7P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "AGAP7P; AGAP7; CTGLF4", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7; AGAP-7; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7 pseudogene; Centaurin-gamma-like family member 4", "protein_names_refseq": "", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "32357974", "class_list": "", "function": "Putative GTPase-activating protein., [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": 0, "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": "A6NGH4", "ec_number_list": "", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5VUJ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VUY0-1", "uniprot_id": "ADCL3_HUMAN", "mass": 46155.0, "length": 407, "protein_name": "Arylacetamide deacetylase-like 3", "gene_name": "AADACL3", "organism": "Human", "refseq_name": "arylacetamide deacetylase-like 3", "refseq_ac": "NP_001096640", "gene_names_uniprotkb": "AADACL3", "gene_names_refseq": "AADACL3", "protein_names_uniprotkb": "Arylacetamide deacetylase-like 3; 3.1.1.-", "protein_names_refseq": "arylacetamide deacetylase-like 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:126767)", "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": 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": "B3KXR9;Q5VUY1", "ec_number_list": "", "go_molecular_function": "GO:0052689 carboxylic ester hydrolase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5VUY0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VUY2-1", "uniprot_id": "ADCL4_HUMAN", "mass": 46082.0, "length": 407, "protein_name": "Arylacetamide deacetylase-like 4", "gene_name": "AADACL4", "organism": "Human", "refseq_name": "arylacetamide deacetylase-like 4", "refseq_ac": "NP_001013652", "gene_names_uniprotkb": "AADACL4", "gene_names_refseq": "AADACL4", "protein_names_uniprotkb": "Arylacetamide deacetylase-like 4; 3.1.1.-", "protein_names_refseq": "arylacetamide deacetylase-like 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:343066)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "28228285;35051231;35580925", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0052689 carboxylic ester hydrolase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5VUY2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6DHV7-1", "uniprot_id": "ADAL_HUMAN", "mass": 40264.0, "length": 355, "protein_name": "N6-Methyl-AMP deaminase", "gene_name": "MAPDA", "organism": "Human", "refseq_name": "N6-Methyl-AMP deaminase isoform 2", "refseq_ac": "NP_001012987", "gene_names_uniprotkb": "MAPDA; ADAL1; ADAL", "gene_names_refseq": "ADAL; HsMAPDA; MAPDA", "protein_names_uniprotkb": "N6-Methyl-AMP deaminase; 3.5.4.-; Adenosine deaminase-like protein; HsMAPDA; N6,N6-dimethyl-AMP deaminase; N6-isopentenyl-AMP deaminase; N6-mAMP deaminase; N6-methyl-AMP aminohydrolase", "protein_names_refseq": "N6,N6-dimethyl-AMP deaminase; N6-Methyl-AMP deaminase isoform 2; N6-isopentenyl-AMP deaminase; N6-mAMP deaminase; N6-methyl-AMP aminohydrolase; adenosine deaminase like; adenosine deaminase-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:161823); (R-HSA-2161541); (R-HSA-74217)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "11237011;11427893;12009299;12399160;1383219;1429593;16359702;17405878;18399692;2104852;21755941;218932;227870;23645737;2539852;2549385;26992070;28228285;2844225;2845866;2848805;28649982;28904123;29884623;2999129;3029074;31217245;3182793;31844290;32144205;32157095;32387766;32938616;33968037;34932366;35051231;36010968;36672888;37938771;39190717;40840445;457664;6281270;6300847;6771276;8692979;9145876;9804782;9843365;9857047", "class_list": "", "function": "ADGR: Admixture-Informed Differential Gene Regulation. Publication Status: Online-Only, [RefSeq, PubMed]; Data indicated that ADAL1 specifically acts at the 6-position of purine and 2-aminopurine nucleoside monophosphates., [RefSeq, PubMed]; Deaminase involved in the detoxification of modified adenosines containing N(6)-methylated adenine (m6A) post-transcriptional modification (PubMed:40840445). Modified nucleosides are derived from the degradation of RNAs (mRNAs, rRNAs and tRNAs) and possess intrinsic cytotoxicity and must be cleared to prevent metabolic dysfunction (PubMed:40840445). Acts downstream of ADK and catalyzes the hydrolysis of the free cytosolic methylated adenosine nucleotides N(6)-methyl-AMP (m6AMP), N(6),N(6)-dimethyl-AMP (m6,6AMP) and N(6)-isopentenyl-AMP (i6AMP) to produce inositol monophosphate (IMP) (PubMed:21755941, PubMed:29884623, PubMed:40840445). Catalyzes the removal of different alkyl groups not only from N6-substituted purine or 2-aminopurine nucleoside monophosphates but also from O6-substituted compounds in vitro (PubMed:21755941)., [UniProtKB, PubMed, PubMed, PubMed]; Mutations in adenosine deaminase-like (ADAL) protein confer drug resistance in Uterine Cervical Neoplasms., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A6NHZ3;B4DQM8", "ec_number_list": "3.5.4.-", "go_molecular_function": "GO:0004000 adenosine deaminase activity;GO:0046872 metal ion binding;GO:0062154 N6-methyl-AMP deaminase activity;GO:0019239 deaminase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006154 adenosine catabolic process;GO:0009117 nucleotide metabolic process;GO:0046103 inosine biosynthetic process;GO:0110052 toxic metabolite repair", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q6DHV7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PCB6-1", "uniprot_id": "AB17C_HUMAN", "mass": 35831.0, "length": 329, "protein_name": "Alpha/beta hydrolase domain-containing protein 17C", "gene_name": "ABHD17C", "organism": "Human", "refseq_name": "alpha/beta hydrolase domain-containing protein 17C", "refseq_ac": "NP_067037", "gene_names_uniprotkb": "ABHD17C; FAM108C1", "gene_names_refseq": "ABHD17C; FAM108C1", "protein_names_uniprotkb": "Alpha/beta hydrolase domain-containing protein 17C; 3.1.2.22; Abhydrolase domain-containing protein 17C", "protein_names_refseq": "abhydrolase domain-containing protein 17C; abhydrolase domain-containing protein FAM108C1; alpha/beta hydrolase domain-containing protein 17C; family with sequence similarity 108, member C1; protein ABHD17C", "tax_id": 9606, "disease": "", "pathway": " (hsa:58489); (R-HSA-9648002)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10085068;10085069;10667208;11038283;11120601;11196150;11237011;11585916;11739732;12433685;12727204;12750467;14561760;14660603;14966563;15451670;15659645;16000296;16043511;16483930;18182391;18502828;19188362;20416930;20418879;20622895;20802526;21170358;21661760;21779505;21905185;21905186;22002721;22144181;22179043;22195972;22589270;22721555;23514631;23698361;23943869;24033119;24715725;24725411;24971579;25502872;25550383;25576301;25713064;25759176;25781681;25880248;25892735;26085527;26590425;2661017;26701913;26706195;26771141;2682646;26992070;27094677;27396271;27410739;27600516;27697864;27791178;28167504;28228285;28630138;28666118;28778966;29242379;29311131;29424242;29557506;29786170;30833945;31154438;31217245;31844290;32157095;32161166;32350084;32357974;32877642;32897882;32938616;32983136;33298915;33592498;33691108;33936100;33968037;34185709;34357683;35051231;36215666;36241641;36284347;37938771;9436858;9810004;9822558;9851253", "class_list": "", "function": "Hydrolyzes fatty acids from S-acylated cysteine residues in proteins. Has depalmitoylating activity towards NRAS and DLG4/PSD95., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q1RMD6;Q9NPM1", "ec_number_list": "3.1.2.22;2.3.1.-;3.1.2.-;3.6.5.2;3.1.2.2;3.4.-.-;3.4.19.12;3.1.1.93", "go_molecular_function": "GO:0008474 palmitoyl-(protein) hydrolase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0043197 dendritic spine;GO:0055038 recycling endosome membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:1905668 positive regulation of protein localization to endosome;GO:0002084 protein depalmitoylation;GO:0099175 regulation of postsynapse organization;GO:1902817 negative regulation of protein localization to microtubule", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q6PCB6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PD74-1", "uniprot_id": "AAGAB_HUMAN", "mass": 34594.0, "length": 315, "protein_name": "Alpha- and gamma-adaptin-binding protein p34", "gene_name": "AAGAB", "organism": "Human", "refseq_name": "alpha- and gamma-adaptin-binding protein p34 isoform 2", "refseq_ac": "NP_001258814", "gene_names_uniprotkb": "AAGAB", "gene_names_refseq": "AAGAB; KPPP1; PPKP1A; PPKP1; p34", "protein_names_uniprotkb": "Alpha- and gamma-adaptin-binding protein p34", "protein_names_refseq": "alpha- and gamma-adaptin-binding protein p34 isoform 2; alpha- and gamma-adaptin-binding protein p34; punctate palmoplantar keratoderma type I", "tax_id": 9606, "disease": "punctate palmoplantar keratoderma type I (Disease Ontology:DOID:0080214)", "pathway": " (hsa:79719)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "11230166;11237011;18669648;18691976;19651622;19690332;20068231;20641033;21406692;22706990;23000146;23064416;23301498;23481700;25418920;25576301;26154972;26992070;27600516;28218747;28228285;28834231;29331515;29437277;29557506;29769354;29789417;30429286;31154438;31844290;32157095;32161166;32350084;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33936100;33968037;33981976;34087483;34171305;34509645;35051231;35318648;35580925;36010968;36241641;36284347;37938771;38311882;40914422", "class_list": "", "function": "Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark., [RefSeq, PubMed]; Identification of two heterozygous nonsense mutations-c.370C>T (p.Arg124) and c.481C>T (p.Arg161)-in AAGAB in patients with punctate palmoplantar keratoderma type Buschke-Fischer-Brauer., [RefSeq, PubMed]; May be involved in endocytic recycling of growth factor receptors such as EGFR., [UniProtKB, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [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": 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": "B4DG44;Q6FI86;Q7Z5X9;Q9H0P1;Q9HAK0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q6PD74-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UXT9-1", "uniprot_id": "ABH15_HUMAN", "mass": 51771.0, "length": 468, "protein_name": "Protein ABHD15", "gene_name": "ABHD15", "organism": "Human", "refseq_name": "protein ABHD15 precursor", "refseq_ac": "NP_937790", "gene_names_uniprotkb": "ABHD15; PRO21435", "gene_names_refseq": "ABHD15", "protein_names_uniprotkb": "Protein ABHD15; Abhydrolase domain-containing protein 15; Alpha/beta hydrolase domain-containing protein 15", "protein_names_refseq": "abhydrolase domain-containing protein 15; alpha/beta hydrolase domain-containing protein 15; protein ABHD15 precursor; protein ABHD15", "tax_id": 9606, "disease": "", "pathway": " (hsa:116236)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "12975309;22424782;23186163;26992070;28218747;28832583;28834231;29242379;29437277;29508533;29557506;29632711;29768196;30315122;30833945;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32938616;33141586;33257193;33298915;33912179;33968037;34171305;34509645;35051231;35251023;35580925", "class_list": "", "function": "ABHD15 associates with and stabilizes phosphodiesterase 3B (PDE3B)., [RefSeq, PubMed]; ABHD15 promotes cell viability, glycolysis, and inhibits apoptosis in cardiomyocytes under hypoxia., [RefSeq, PubMed]; May regulate adipocyte lipolysis and liver lipid accumulation., [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": 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": "Q96EC5", "ec_number_list": "", "go_molecular_function": "GO:0047372 monoacylglycerol lipase activity;GO:0034338 short-chain carboxylesterase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0016020 membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0060612 adipose tissue development;GO:0016042 lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q6UXT9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z5R6-1", "uniprot_id": "AB1IP_HUMAN", "mass": 73183.0, "length": 666, "protein_name": "Amyloid beta A4 precursor protein-binding family B member 1-interacting protein", "gene_name": "APBB1IP", "organism": "Human", "refseq_name": "amyloid beta A4 precursor protein-binding family B member 1-interacting protein", "refseq_ac": "NP_061916", "gene_names_uniprotkb": "APBB1IP; PREL1; RARP1; RIAM", "gene_names_refseq": "APBB1IP; INAG1; PREL1; RARP1; RIAM", "protein_names_uniprotkb": "Amyloid beta A4 precursor protein-binding family B member 1-interacting protein; APBB1-interacting protein 1; PREL-1; Proline-rich EVH1 ligand 1; Proline-rich protein 73; RARP-1; RIAM; Rap1-GTP-interacting adapter molecule; Retinoic acid-responsive proline-rich protein 1", "protein_names_refseq": "APBB1-interacting protein 1; MLLT10/APBB1IP reciprocal fusion protein; MLLT10/APBB1IP reciprocal fusion; PREL-1; RARP-1; Rap1-GTP-interacting adaptor molecule; Rap1-interacting adaptor molecule; amyloid beta A4 precursor protein-binding family B member 1-interacting protein; proline rich EVH1 ligand 1; proline-rich protein 73; rap1-GTP-interacting adapter molecule; retinoic acid-responsive proline-rich protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54518); (R-HSA-354192); (R-HSA-354194); (R-HSA-372708); (R-HSA-5674135); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9649948); (R-HSA-9656223)", "pathway_count": 11, "publication_count": 196, "publication_id_list": "10209122;10409742;10446041;10725339;10777559;10891492;10896934;10964917;11325826;11476890;11802164;11802165;11940607;12005431;12068308;12473660;12479806;12585966;12640026;12832465;14530287;14636584;14754902;14970219;15035987;15118098;15157149;15239952;15260967;15334074;15469846;15520807;15543157;15547943;15630448;15642358;16005629;16040750;16076873;16115959;16135787;16364920;16508002;16581250;16702958;16757337;16879721;16919435;17018604;17145850;17178906;17218263;1722201;17496912;17563371;17603482;17603483;17624957;18287029;18434644;18559533;18562239;18974108;19091303;19219045;19242111;19279408;19367720;19467855;19690332;19933846;20052757;20058876;20130576;20141835;20166139;20179705;20526349;20818844;20858867;21107323;21424530;21514245;21639808;21779496;21784453;21993244;22043453;22113612;22177953;22292133;22356324;22395615;22510884;22569528;22589270;22745804;22826437;23171796;23288408;23352452;23389036;23453624;23481700;23583981;23614898;23667175;23680146;23875798;23934108;24121058;24135138;24202393;24275569;24345920;24651010;24714562;24746704;24937142;24957944;25195011;25204415;25313996;25435214;25576301;25892735;25907612;26214590;26375851;26992070;27227380;27846572;28228285;28832583;28834231;28855257;28904123;28939558;29242379;29467321;29493099;29508533;29557506;29632711;29769354;29786170;30034615;30315122;30410026;30429286;30524438;30794926;31154438;31217245;31611695;31844290;31848261;32357974;32387766;32397169;32502341;32561773;3287375;32897882;32983136;33275877;33717175;33912179;33936100;33968037;34185709;34601137;34932366;35051231;35580925;36238292;36284347;37938771;7513017;7565670;7565795;7731720;7929275;7935411;7997267;8051079;8157000;8621540;8631894;8649368;8755247;9020159;9351824;9566877;9733512;9858547", "class_list": "", "function": "All-trans-retinoic acid-inducible RARP1 selectively affects signal transduction and may contribute to myeloid and megakaryocytic differentiation.(RARP1), [RefSeq, PubMed]; Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling. Suppresses insulin-induced promoter activities through AP1 and SRE. Mediates Rap1-induced adhesion., [UniProtKB, PubMed, PubMed]; Expression of the phagocytic receptors alphaMbeta2 and alphaXbeta2 is controlled by RIAM, VASP and Vinculin in neutrophil-differentiated HL-60 cells. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphorylation of RIAM by src promotes integrin activation by unmasking the PH domain of RIAM., [RefSeq, PubMed]; RIAM-VASP Module Relays Integrin Complement Receptors in Outside-In Signaling Driving Particle Engulfment. Publication Status: Online-Only, [RefSeq, PubMed]; Structural, biochemical, and functional properties of the Rap1-Interacting Adaptor Molecule (RIAM). Review article, [RefSeq, PubMed]; Talin dissociates from RIAM and associates to vinculin sequentially in response to the actomyosin force. 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": 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": "Q8IWS8;Q8IYL7;Q8IZZ7", "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:0005925 focal adhesion;GO:0030027 lamellipodium", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 19.7, "record_id": "Q7Z5R6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86UK0-1", "uniprot_id": "ABCAC_HUMAN", "mass": 293237.0, "length": 2595, "protein_name": "Glucosylceramide transporter ABCA12", "gene_name": "ABCA12", "organism": "Human", "refseq_name": "glucosylceramide transporter ABCA12 isoform b", "refseq_ac": "NP_056472", "gene_names_uniprotkb": "ABCA12; ABC12", "gene_names_refseq": "ABCA12; ARCI4A; ARCI4B; ICR2B; LI2", "protein_names_uniprotkb": "Glucosylceramide transporter ABCA12; 7.6.2.1; ATP-binding cassette 12; ATP-binding cassette sub-family A member 12; ATP-binding cassette transporter 12", "protein_names_refseq": "ATP-binding cassette transporter 12; ATP-binding cassette, sub-family A (ABC1), member 12; glucosylceramide transporter ABCA12 isoform b; glucosylceramide transporter ABCA12", "tax_id": 9606, "disease": "autosomal recessive congenital ichthyosis 1 (Disease Ontology:DOID:0060656); autosomal recessive congenital ichthyosis 4A (Disease Ontology:DOID:0060712); autosomal recessive congenital ichthyosis 4B (Disease Ontology:DOID:0060713)", "pathway": " (hsa:26154); (R-HSA-1369062); (R-HSA-5682294)", "pathway_count": 3, "publication_count": 96, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10551832;10704444;10777694;10873640;11095984;11099417;11178988;11237011;11248239;11309290;11478798;11606068;11718719;12150964;12183068;12504089;12509503;12697999;12821155;12915478;12917409;14570867;14592415;15007061;15044640;15209530;15756637;15994327;16007253;16675967;16902423;17508018;17591952;17611579;17927575;18284401;18772397;19179616;19262603;19429679;19664001;20058876;20672373;20869849;21654843;22257947;23481700;23584533;24366607;24831815;26154972;26375851;27846572;27920218;28228285;28467828;28514659;28832583;28904123;29242379;29557506;29632046;29769354;30315122;30779550;31092671;31217245;31844290;32072744;32265295;32350084;32387766;32502341;32897882;32938616;33717175;34357683;34561969;34932366;35051231;35154160;35318648;37074911;37340703;37752865;37762265;38085035;38540347;38576105;39531497;8411712;8507690;8706931;9345306", "class_list": "", "function": "Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. Publication Status: Online-Only, [RefSeq, PubMed]; Novel variants in ABCA12 cause erythrokeratodermia variabilis., [RefSeq, PubMed]; Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP). Publication Status: Online-Only, [RefSeq, PubMed]; Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes., [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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]; Transports lipids such as glucosylceramides from the outer to the inner leaflet of lamellar granules (LGs) membrane, whereby the lipids are finally transported to the keratinocyte periphery via the trans-Golgi network and LGs and released to the apical surface of the granular keratinocytes to form lipid lamellae in the stratum corneum of the epidermis, which is essential for skin barrier function (PubMed:16007253, PubMed:20869849). In the meantime, participates in the transport of the lamellar granules-associated proteolytic enzymes, in turn regulates desquamation and keratinocyte differentiation (PubMed:19179616). Furthermore, is essential for the regulation of cellular cholesterol homeostasis by regulating ABCA1-dependent cholesterol efflux from macrophages through interaction with NR1H2 and ABCA1 (By similarity). Plays pleiotropic roles in regulating glucose stimulated insulin secretion from beta cells, regulating the morphology and fusion of insulin granules, lipid raft abundance and the actin cytoskeleton (By similarity). Also involved in lung surfactant biogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants., [RefSeq, PubMed]", "predicted_glycosites": 33, "predicted_n_glycosites": 32, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 163, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 3, "glyco_site_count": 39, "binding_glycan_count": 0, "secondary_ac_list": "Q53QE2;Q53S55;Q8IZW6;Q96JT3;Q9Y4M5", "ec_number_list": "7.6.2.1", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005319 lipid transporter activity;GO:0005524 ATP binding;GO:0034040 ATPase-coupled lipid transmembrane transporter activity;GO:0034191 apolipoprotein A-I receptor binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006869 lipid transport;GO:0006886 intracellular protein transport;GO:0010875 positive regulation of cholesterol efflux;GO:0019725 cellular homeostasis;GO:0032940 secretion by cell", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q86UK0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86V21-1", "uniprot_id": "AACS_HUMAN", "mass": 75144.0, "length": 672, "protein_name": "Acetoacetyl-CoA synthetase", "gene_name": "AACS", "organism": "Human", "refseq_name": "acetoacetyl-CoA synthetase isoform 2", "refseq_ac": "NP_001306768", "gene_names_uniprotkb": "AACS; ACSF1", "gene_names_refseq": "AACS; ACSF1; SUR-5", "protein_names_uniprotkb": "Acetoacetyl-CoA synthetase; 6.2.1.16; Acyl-CoA synthetase family member 1; Protein sur-5 homolog", "protein_names_refseq": "acetoacetate-CoA ligase; acetoacetyl-CoA synthetase isoform 2; acyl-CoA synthetase family member 1; homolog of C. elegans supressor of ras 5 (sur-5); protein sur-5 homolog", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:65985); (R-HSA-77111)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "11237011;11479731;12623130;16380372;1639787;17762044;19415658;20102333;22847177;22865860;23396451;23481700;25418920;25576301;25892735;26154972;26375851;26992070;27397612;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29331515;29437277;29557506;29632711;29789417;30315122;30410026;30429286;30913280;31092671;31154438;31530632;31844290;31848261;32157095;32350084;32387766;32897882;32938616;32983136;33592498;33717175;33912179;33936100;33968037;34357683;35051231;35318648;35580925;36010968;36241641;36581221;3709573;37938771;7061490;8440722;9671465", "class_list": "", "function": "Converts acetoacetate to acetoacetyl-CoA in the cytosol (By similarity). Ketone body-utilizing enzyme, responsible for the synthesis of cholesterol and fatty acids (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation. Publication Status: Online-Only, [RefSeq, PubMed]; The human AACS promoter is a PPARgamma target gene and this nuclear receptor is recruited to the AACS promoter by direct interaction with Sp1 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": 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": "Q49AB9;Q49AC3;Q658Q8;Q8IWD2;Q8NEW5;Q9BSJ9;Q9H829;Q9HA19", "ec_number_list": "6.2.1.16", "go_molecular_function": "GO:0005524 ATP binding;GO:0030729 acetoacetate-CoA ligase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0032024 positive regulation of insulin secretion;GO:0046951 ketone body biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q86V21-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUA7-1", "uniprot_id": "ABCA9_HUMAN", "mass": 184362.0, "length": 1624, "protein_name": "ATP-binding cassette sub-family A member 9", "gene_name": "ABCA9", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family A member 9", "refseq_ac": "NP_525022", "gene_names_uniprotkb": "ABCA9", "gene_names_refseq": "ABCA9; EST640918", "protein_names_uniprotkb": "ATP-binding cassette sub-family A member 9; 7.6.2.-", "protein_names_refseq": "ATP-binding cassette A9; ATP-binding cassette sub-family A member 9; ATP-binding cassette, sub-family A (ABC1), member 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:10350); (R-HSA-1369062)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10551832;10704444;10777694;10873640;11095984;11099417;11178988;11237011;11248239;11309290;11478798;11606068;11718719;12150964;12183068;12504089;12509503;12821155;12917409;14570867;14592415;15007061;15044640;15209530;15994327;16007253;19159218;20877624;24715725;24831815;29557506;31081967;34171305;35051231;36576228;8411712;8507690;8706931;9345306", "class_list": "", "function": "ABCA9, an ER cholesterol transporter, inhibits breast cancer cell proliferation via SREBP-2 signaling., [RefSeq, PubMed]; Novel key genes in triple-negative breast cancer identified by weighted gene co-expression network analysis., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]., [RefSeq]; Transporter that may play a role in monocyte differentiation and lipid transport and homeostasis., [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": 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": 40, "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": "Q6P655;Q8N2S4;Q8WWZ5;Q96MD8", "ec_number_list": "7.6.2.-", "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0016887 ATP hydrolysis activity;GO:0140359 ABC-type transporter activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006869 lipid transport", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q8IUA7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N9L9-1", "uniprot_id": "ACOT4_HUMAN", "mass": 46327.0, "length": 421, "protein_name": "Peroxisomal succinyl-coenzyme A thioesterase", "gene_name": "ACOT4", "organism": "Human", "refseq_name": "peroxisomal succinyl-coenzyme A thioesterase", "refseq_ac": "NP_689544", "gene_names_uniprotkb": "ACOT4; PTE2B; PTEIB", "gene_names_refseq": "ACOT4; PTE-Ib; PTE1B; PTE2B", "protein_names_uniprotkb": "Peroxisomal succinyl-coenzyme A thioesterase; 3.1.2.2; 3.1.2.3; Acyl-CoA thioesterase 4; Acyl-coenzyme A thioesterase 4; PTE-2b; PTE-Ib; Peroxisomal acyl coenzyme A thioester hydrolase Ib; Peroxisomal long-chain acyl-CoA thioesterase Ib", "protein_names_refseq": "PTE-2b; acyl-coenzyme A thioesterase 4; peroxisomal acyl coenzyme A thioester hydrolase Ib; peroxisomal acyl-CoA thioesterase 2B; peroxisomal long-chain acyl-CoA thioesterase Ib; peroxisomal succinyl-coenzyme A thioesterase", "tax_id": 9606, "disease": "", "pathway": " (hsa:122970); (R-HSA-390247); (R-HSA-9033241)", "pathway_count": 3, "publication_count": 90, "publication_id_list": "10022913;10198260;10562279;10673331;11101887;11514237;11546814;11673457;11781871;11931631;12456682;12559034;12578380;12717447;12885776;15060085;15545321;15858711;16141203;16385454;1651711;1679347;16854980;16940157;17007944;17726030;18359941;18712838;19197237;19208625;19584060;19632994;20178365;21145416;21554508;21976670;21980954;22002062;22057399;22371489;22493507;22534643;22745130;22747494;23963456;24235149;24865970;25016021;25538232;25854684;25961151;26086376;26138649;26220973;26344566;27597759;28521612;28611990;28765278;28787099;29557506;29769354;30315122;31844290;32161166;32350084;32387766;33148467;33500543;33912179;34087483;34509645;35051231;35494241;486181;6798973;7719337;7790377;8824437;8858165;8902629;8991089;9089413;9090381;9090382;9090383;9539740;9653144;9668159;9837948", "class_list": "", "function": "ACOT4 accumulation via AKT-mediated phosphorylation promotes pancreatic tumourigenesis., [RefSeq, PubMed]; ACOT4 and ACOT8 are responsible for the termination of beta-oxidation of dicarboxylic acids of medium-chain length with the concomitant release of the corresponding free acids, [RefSeq, PubMed]; Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels (PubMed:16940157). Functions as a peroxisomal succinyl-coenzyme A thioesterase that can also hydrolyze glutaryl-CoA and long chain saturated acyl-CoAs (PubMed:16940157)., [UniProtKB, PubMed]; Exome sequencing revealed an association with ACOT4 and increased risk of ischemic stroke., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q17RF4;Q5BKT6;Q86TX0;Q86TX1;Q96N88", "ec_number_list": "3.6.1.-;3.6.1.77;3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.42;1.3.3.6;2.3.2.27;3.1.1.4;3.1.1.5;1.1.1.42;1.11.1.6;3.4.24.56;1.4.3.3;2.6.1.51;2.6.1.44;2.3.1.176;2.3.1.16;2.3.1.155;2.3.2.36;1.14.13.39;4.1.3.4;3.1.2.-;2.3.1.9;2.3.1.137;2.3.1.7;3.1.2.22;5.3.3.21;2.3.1.65;3.4.21.-;3.5.2.6;1.5.3.13;3.4.21.53;1.4.3.1;1.1.1.184;1.3.1.38;1.3.1.124;3.1.2.14;1.1.3.15;1.5.3.1;1.5.3.7;5.1.99.4;4.1.2.63;1.2.3.5;2.5.1.18", "go_molecular_function": "GO:0004778 succinyl-CoA hydrolase activity;GO:0047617 fatty acyl-CoA hydrolase activity;GO:0052689 carboxylic ester hydrolase activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0000038 very long-chain fatty acid metabolic process;GO:0001676 long-chain fatty acid metabolic process;GO:0006104 succinyl-CoA metabolic process;GO:0006631 fatty acid metabolic process;GO:0006637 acyl-CoA metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q8N9L9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NFV4-1", "uniprot_id": "ABHDB_HUMAN", "mass": 33747.0, "length": 306, "protein_name": "sn-1-specific diacylglycerol lipase ABHD11", "gene_name": "ABHD11", "organism": "Human", "refseq_name": "sn-1-specific diacylglycerol lipase ABHD11 isoform 9", "refseq_ac": "NP_001287987", "gene_names_uniprotkb": "ABHD11; PP1226; WBSCR21", "gene_names_refseq": "ABHD11; PP1226; WBSCR21", "protein_names_uniprotkb": "sn-1-specific diacylglycerol lipase ABHD11; 3.1.1.116; Abhydrolase domain-containing protein 11; Alpha/beta hydrolase domain-containing protein 11; Williams-Beuren syndrome chromosomal region 21 protein", "protein_names_refseq": "Williams Beuren syndrome chromosome region 21; abhydrolase domain-containing protein 11; alpha/beta hydrolase domain-containing protein 11; protein ABHD11; sn-1-specific diacylglycerol lipase ABHD11 isoform 9; sn-1-specific diacylglycerol lipase ABHD11", "tax_id": 9606, "disease": "", "pathway": " (hsa:83451)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;12073013;15498874;21596165;26280398;28465236;28510447;28649982;29632046;29632711;30379171;30537177;31092671;32579589;32792488;34375304;37217939;37938771;38146687", "class_list": "", "function": "ABHD11 maintains 2-oxoglutarate metabolism by preserving functional lipoylation of the 2-oxoglutarate dehydrogenase complex. Publication Status: Online-Only, [RefSeq, PubMed]; ABHD11, a new diacylglycerol lipase involved in weight gain regulation. Publication Status: Online-Only, [RefSeq, PubMed]; ABHD11-AS1 is expressed in gastric cancer tissues and may have a role as a biological marker, [RefSeq, PubMed]; Abhydrolase domain-containing protein 11 and Esterase D predict the development of distant metastases and the presence of aggressive lung adenocarcinomas., [RefSeq, PubMed]; Catalyzes the hydrolysis of diacylglycerol in vitro and may function as a key regulator in lipid metabolism, namely by regulating the intracellular levels of diacylglycerol (PubMed:32579589). 1,2-diacyl-sn-glycerols are the preferred substrate over 1,3-diacyl-sn-glycerols (By similarity). The enzyme hydrolyzes stearate in preference to palmitate from the sn-1 position of 1,2-diacyl-sn-glycerols (By similarity). Maintains the functional lipoylation of the 2-oxoglutarate dehydrogenase complex (OGDHc) through its interaction with the OGDHc by preventing the formation of lipoyl adducts (PubMed:32792488). In addition, is also required for the expansion and differentiation of embryonic stem cells (ESCs) (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB]; LncRNA ABHD11-AS1 activates EGFR signaling to promote cervical cancer progression by preventing FUS-mediated degradation of ABHD11 mRNA., [RefSeq, PubMed]; Long non-coding RNA ABHD11-AS1 promotes colorectal cancer progression and invasion through targeting the integrin subunit alpha 5/focal adhesion kinase/phosphoinositide 3 kinase/Akt signaling pathway., [RefSeq, PubMed]; That ABHD11-AS1 promotes CRC progression through the miR-1254-WNT11 pathway, [RefSeq, PubMed]; The results demonstrate that human ABHD11 and its yeast homolog YGR031W have a pivotal role in the lipid metabolism., [RefSeq, PubMed]; This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "H7BYM8;Q6PJU0;Q8N722;Q8N723;Q8NFV2;Q8NFV3;Q9HBS8", "ec_number_list": "3.1.1.3;3.1.1.26;3.1.1.116", "go_molecular_function": "GO:0016298 lipase activity;GO:0052689 carboxylic ester hydrolase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0045252 oxoglutarate dehydrogenase complex", "go_biological_process": "GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8NFV4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TDX5-1", "uniprot_id": "ACMSD_HUMAN", "mass": 38035.0, "length": 336, "protein_name": "2-amino-3-carboxymuconate-6-semialdehyde decarboxylase", "gene_name": "ACMSD", "organism": "Human", "refseq_name": "2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform 2", "refseq_ac": "NP_001294912", "gene_names_uniprotkb": "ACMSD", "gene_names_refseq": "ACMSD", "protein_names_uniprotkb": "2-amino-3-carboxymuconate-6-semialdehyde decarboxylase; 4.1.1.45; Picolinate carboxylase", "protein_names_refseq": "2-amino-3-carboxymuconate-6-semialdehyde decarboxylase isoform 2; 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase; picolinate carboxylase", "tax_id": 9606, "disease": "kidney failure (Disease Ontology:DOID:1074)", "pathway": " (hsa:130013); (R-HSA-71240)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10049700;10391915;10672018;12007602;12140278;13069505;15229365;15364907;15880762;16376499;16477023;17671174;18056995;18262359;18620547;19338303;19843166;21097500;23478338;27483383;29557506;30380424;33592498;34087483;35051231;35580925;36334154;7514594;7883047;8294935;8666386;9180257", "class_list": "", "function": "A kynurenine pathway enzyme aminocarboxymuconate-semialdehyde decarboxylase may be involved in treatment-resistant depression, and baseline inflammation status of patients predicts treatment response: a pilot study. Erratum:[J Neural Transm (Vienna). 2023 Oct;130(10):1315. doi: 10.1007/s00702-022-02573-7. PMID: 36515768], [RefSeq, PubMed]; Converts alpha-amino-beta-carboxymuconate-epsilon-semialdehyde (ACMS) to alpha-aminomuconate semialdehyde (AMS) (PubMed:12140278). ACMS can be converted non-enzymatically to quinolinate (QA), a key precursor of NAD, and a potent endogenous excitotoxin of neuronal cells which is implicated in the pathogenesis of various neurodegenerative disorders. In the presence of ACMSD, ACMS is converted to AMS, a benign catabolite (PubMed:12140278). ACMSD ultimately controls the metabolic fate of tryptophan catabolism along the kynurenine pathway (PubMed:12140278, PubMed:19843166)., [UniProtKB, PubMed, PubMed]; Data report a crystal structure of human ACMSD in complex with the glycolytic intermediate 1,3-dihydroxyacetonephosphate (DHAP),suggesting a regulatory link between NAD synthesis and glycolysis., [RefSeq, PubMed]; Identification and expression of cDNA, [RefSeq, PubMed]; Limits production of the glutamatergic excitotoxin quinolinate, by diverting it to picolinate; inhibited by phthalates, by virtue of their structural similarity to nicotinate., [RefSeq, PubMed]; The minor C allele of the ACMSD SNP rs2121337 was more prevalent in suicide attempters. Publication Status: Online-Only, [RefSeq, PubMed]; The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004]., [RefSeq]; This study shows that ACMSD is a key regulator of mammalian dietary niacin requirements and NAD(+) metabolism., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q3B7X3;Q53SR5;Q96KY2", "ec_number_list": "4.1.1.45", "go_molecular_function": "GO:0001760 aminocarboxymuconate-semialdehyde decarboxylase activity;GO:0008270 zinc ion binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006569 L-tryptophan catabolic process;GO:1904985 negative regulation of quinolinate biosynthetic process;GO:1905004 picolinic acid biosynthetic process;GO:1905012 regulation of 'de novo' NAD biosynthetic process from L-tryptophan;GO:0019748 secondary metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8TDX5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78325-1", "uniprot_id": "ADAM8_HUMAN", "mass": 88771.0, "length": 824, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 8", "gene_name": "ADAM8", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 8 isoform 1 precursor", "refseq_ac": "NP_001100", "gene_names_uniprotkb": "ADAM8; MS2", "gene_names_refseq": "ADAM8; CD156a; CD156; MS2", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 8; 3.4.24.-; ADAM 8; Cell surface antigen MS2", "protein_names_refseq": "a disintegrin and metalloproteinase domain 8; cell surface antigen MS2; disintegrin and metalloproteinase domain-containing protein 8 isoform 1 precursor; disintegrin and metalloproteinase domain-containing protein 8; human leukocyte differentiation antigen", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); pulmonary eosinophilia (Disease Ontology:DOID:9498)", "pathway": " (hsa:101); (R-HSA-1474228); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 117, "publication_id_list": "10229672;10386589;10706100;10809722;10986281;11237011;11375993;11872628;12727852;12843408;14973287;15234972;15574124;15591058;15958533;16133547;1649600;16631740;16825321;1698775;1707285;17332331;17354228;17608959;18434311;18658137;19010778;19571574;19657146;19714641;20142769;21030783;21297635;21441952;21670566;21784848;21864727;22159414;22424782;22544926;22684055;23035980;23481700;23650620;23845380;24190977;24715725;25336660;25502872;25892735;26154972;26375851;26992070;27543614;27846572;28228285;28467828;28832583;28834231;28855257;28904123;29242379;29314611;29493099;29508533;29557506;29769354;29786170;30237853;30315122;30573663;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32488085;32502341;32938616;32983136;33043033;33141586;33298915;33544472;33691108;33846772;33912179;33968037;34211107;34357683;34433824;35051231;35154160;35216088;35251023;35318648;35561310;35580925;36010968;36284347;37992987;39221886;7075587;7547873;8226919;8626565;8692836;9065415;9115292;9126482;9148753;9461298;9852107", "class_list": "", "function": "ADAM8 affects glioblastoma progression by regulating osteopontin-mediated angiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; ADAM8-Dependent Extracellular Signaling in the Tumor Microenvironment Involves Regulated Release of Lipocalin 2 and MMP-9. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of ADAM8 inhibits the proliferation, migration, invasion, and tumorigenesis of renal clear cell carcinoma cells to enhance the immunotherapy efficacy., [RefSeq, PubMed]; METTL14-mediated lncRNA-FAS-AS1 promotes osteoarthritis progression by up-regulating ADAM8., [RefSeq, PubMed]; Possible involvement in extravasation of leukocytes., [UniProtKB]; This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]., [RefSeq]; TrkB/C-induced HOXC6 activation enhances the ADAM8-mediated metastasis of chemoresistant colon 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": 4, "mined_n_glycosites": 4, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 15, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DVM6;H0YL36;H0YLR0;H0YN39", "ec_number_list": "3.4.24.81;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.51;1.14.19.17;5.2.1.-;3.2.1.20;2.3.1.20;2.3.1.76;2.7.11.1;3.4.21.73;3.6.5.2;1.6.3.-;3.1.3.48;1.14.14.18;3.4.16.2;1.2.1.5;1.2.1.28;1.2.1.7;1.2.1.48;3.4.24.-;7.6.2.1;3.2.2.6;1.1.1.-;3.1.4.4;2.3.2.27;2.3.1.78;3.1.3.-;3.6.1.29", "go_molecular_function": "GO:0034987 immunoglobulin receptor binding;GO:0004222 metalloendopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0035579 specific granule membrane;GO:0070821 tertiary granule membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0006508 proteolysis;GO:0006954 inflammatory response;GO:0022617 extracellular matrix disassembly;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "P78325-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P00519-1", "uniprot_id": "ABL1_HUMAN", "mass": 122873.0, "length": 1130, "protein_name": "Tyrosine-protein kinase ABL1", "gene_name": "ABL1", "organism": "Human", "refseq_name": "tyrosine-protein kinase ABL1 isoform a", "refseq_ac": "NP_005148", "gene_names_uniprotkb": "ABL1; ABL; JTK7", "gene_names_refseq": "ABL1; ABL; BCR-ABL; CHDSKM; JTK7; bcr/abl; c-ABL1; c-ABL; p150; v-abl", "protein_names_uniprotkb": "Tyrosine-protein kinase ABL1; 2.7.10.2; Abelson murine leukemia viral oncogene homolog 1; Abelson tyrosine-protein kinase 1; Proto-oncogene c-Abl; p150", "protein_names_refseq": "ABL protooncogene 1 nonreceptor tyrosine kinase; Abelson tyrosine-protein kinase 1; BCR-ABL1 p190; BCR/ABL e8a2 fusion; BCR/ABL1 e1a2 fusion protein; BCR/ABL1 fusion protein e3a1; BCR/ABL1 fusion; BCR::ABL1 fusion protein; bcr/c-abl oncogene protein; c-abl oncogene 1, receptor tyrosine kinase; chimeric BCR::ABL1 protein; proto-oncogene c-Abl; proto-oncogene tyrosine-protein kinase ABL1; tyrosine-protein kinase ABL1 isoform a; v-abl Abelson murine leukemia viral oncogene homolog 1", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); B-lymphoblastic leukemia/lymphoma (Disease Ontology:DOID:0080630); stomach cancer (Disease Ontology:DOID:10534); Parkinson's disease (Disease Ontology:DOID:14330); lung non-small cell carcinoma (Disease Ontology:DOID:3908); esophagus adenocarcinoma (Disease Ontology:DOID:4914); ureteral obstruction (Disease Ontology:DOID:5199); chronic myeloid leukemia (Disease Ontology:DOID:8552); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); congenital heart defects and skeletal malformations syndrome (MONDO:MONDO:0060532)", "pathway": " (hsa:25); (R-HSA-2029482); (R-HSA-428890); (R-HSA-525793); (R-HSA-5663213); (R-HSA-5685938); (R-HSA-5693565); (R-HSA-69231); (R-HSA-8939236); (R-HSA-8940973); (R-HSA-9664422); (R-HSA-983231); (R-HSA-9841922); (R-HSA-9860927)", "pathway_count": 14, "publication_count": 575, "publication_id_list": "10194451;10207050;10212258;10219243;10325413;10330143;10385618;10391250;10425206;10438626;10496324;10499802;10550055;10558993;10559936;10601328;10724160;10724175;10744977;10766245;10781580;10802669;10805738;10831586;10835357;10866324;10878810;10882139;10892742;10921897;10959836;10964922;10973490;10995437;11025670;11027271;11032757;11042108;11062261;11073976;11106645;11114745;11114888;11157749;11157975;11231573;11231582;11237011;11242053;11276226;11278486;11329366;11340081;11374898;11390408;11416152;11545733;11553796;11571269;11571274;11573085;11698410;11719808;11744692;11747816;11751636;11781820;11782431;11804587;11829459;11847100;11847229;11854399;11884610;11893489;11895428;11927591;11934988;11950885;11971963;12032298;12055636;12105426;12134158;12139939;12149456;12189515;12191481;12213210;12226092;12231506;12235133;12364621;12370410;12379650;12384576;12391164;12427746;12435635;12444543;12447390;12475393;12485996;12522270;12529404;12531427;12607003;12607005;12634428;12654251;12663457;12672821;12697768;12743368;12748290;12750383;12773400;12775773;12792649;1281542;12829629;12832489;12890688;1310260;1314888;1423597;14517297;14560035;14597415;14676198;14734547;14765127;15020713;15031292;15040784;1505033;15064416;15201865;15247287;15279782;15302586;15361874;15381060;15452139;15485900;15514006;15556646;15579463;15657060;15657136;15677719;15678106;15686624;15696159;15710388;15886098;16025100;16038734;16050798;16054028;16093432;16099986;16150728;16195327;16262445;1630448;16377563;16380219;16405837;16424036;16427009;16497976;16543148;16546099;16640460;16641196;16642048;16648821;16651405;16678104;16702231;16751105;16782892;16880808;16888623;16912036;16932346;16943190;16990603;17008892;17021308;17027967;17081983;17092340;17114651;17130834;17164530;17188549;17189410;17192257;17196961;17202194;17254966;17254967;17306540;17308335;17344846;17382017;17395781;17452790;17525332;17525340;17541396;17553757;17623672;17671436;17761950;17768119;17848578;17881650;17908796;17962301;18001824;18001825;18006705;18070890;18077395;18161990;18182299;18221045;18268096;18280240;1828392;1828393;1828394;18328268;18367669;18385754;18391171;18414028;18443292;18452278;18477452;18514829;18539610;18541667;18587017;18615627;18644861;18669648;18691976;18701449;18707149;18710949;18757400;18759691;18775435;18794806;18818391;18827403;18945674;19001859;19043829;19075005;19092802;19117993;19172745;19176521;19203578;19203579;19234442;19240172;19261749;19293402;19322212;19351884;19369195;19373669;19378338;19381274;19389811;19413330;19458076;19487459;19536317;19541823;19564926;19629392;19651622;19679008;19690332;19707354;19741094;19768693;19782031;19801668;19811824;19843886;19878872;19891780;19901323;19906645;19955216;19959093;20010464;20016603;20023648;20068231;20107323;20160094;20166937;20305692;20351172;20357770;20417104;20447687;20482842;20512393;20530532;20564073;20619375;20627800;20663872;20673586;20686481;20841568;20843055;20861316;20877012;20887958;20929330;20952511;20963643;20965415;21030353;21037092;21041018;21091633;21173110;21282113;21293379;21419341;21423214;21435002;21486895;21571218;21605905;21700550;21715330;21804533;2183353;218813;21899886;22005133;22012064;22021366;22234877;22262141;22359103;22373579;22387217;22483154;22493660;22508508;22589545;22772060;22810897;22896000;22897851;22908299;22912393;22980979;23006999;23007395;23023260;23065514;23174189;23186163;23187745;23287417;23301703;23481700;23540562;23597459;23622515;23675550;23737759;24029068;24109527;24155950;24275569;24385789;24396109;24515438;24606661;24657654;24667604;24715725;2474607;24756787;24876129;24989279;25043025;25127392;25152116;25281405;25379619;25394790;2542016;25501110;25576301;25582480;25621010;25733683;25807654;25865393;25963192;26154972;26247667;26321052;26413254;26622510;26811146;26845023;26854822;2687768;26929215;26967290;26992070;26995693;27137657;27166836;27344662;27374241;27444277;27600516;27720778;27797343;27846572;27862975;28228285;2825022;28288113;28349229;28428613;28657654;28661474;28779753;28832583;28834231;28904123;29242379;29321163;29331515;29358661;29393594;29464484;29479884;29508533;29557506;29632046;29632711;29786170;29789417;29859988;30059200;3021337;30429286;30704478;30711375;30779550;30833945;30948493;31044085;31154438;31373491;31408443;31543423;31844290;31848261;31937595;31998317;32037480;32157095;32357974;32387766;32488085;32502341;32673515;32897882;32938616;32983136;33141586;33298915;33329381;33592498;33912179;33936100;33968037;34087483;3409321;34171305;34211107;34433824;34509645;34561969;34932366;35051231;35254053;35580925;36010968;36241641;36284347;37938771;40307207;6191223;7545908;7665185;7797074;7848918;7891679;7892170;7954814;8114739;8139570;8246996;8336704;8441409;8497257;8521497;8521498;8590002;8662638;8668151;8702565;8809042;8816476;8944023;8986718;9037071;9042862;9065479;9065481;9069290;9106657;9144171;9144196;9168116;9171241;9182762;9190208;9230307;9325318;9326583;9331217;9418854;9422515;9447971;9448290;9461559;9488723;9508775;9600938;9698566;9705280;9744270;9786951;9799231;9837724;9843499;9858528;9883880;9885284;9927674;9988769", "class_list": "", "function": "Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autophagy, DNA damage response and apoptosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like WASF3 (involved in branch formation); ANXA1 (involved in membrane anchoring); DBN1, DBNL, CTTN, RAPH1 and ENAH (involved in signaling); or MAPT and PXN (microtubule-binding proteins). Phosphorylation of WASF3 is critical for the stimulation of lamellipodia formation and cell migration. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as BCAR1, CRK, CRKL, DOK1, EFS or NEDD9 (PubMed:22810897). Phosphorylates multiple receptor tyrosine kinases and more particularly promotes endocytosis of EGFR, facilitates the formation of neuromuscular synapses through MUSK, inhibits PDGFRB-mediated chemotaxis and modulates the endocytosis of activated B-cell receptor complexes. Other substrates which are involved in endocytosis regulation are the caveolin (CAV1) and RIN1. Moreover, ABL1 regulates the CBL family of ubiquitin ligases that drive receptor down-regulation and actin remodeling. Phosphorylation of CBL leads to increased EGFR stability. Involved in late-stage autophagy by regulating positively the trafficking and function of lysosomal components. ABL1 targets to mitochondria in response to oxidative stress and thereby mediates mitochondrial dysfunction and cell death. In response to oxidative stress, phosphorylates serine/threonine kinase PRKD2 at 'Tyr-717' (PubMed:28428613). ABL1 is also translocated in the nucleus where it has DNA-binding activity and is involved in DNA-damage response and apoptosis. Many substrates are known mediators of DNA repair: DDB1, DDB2, ERCC3, ERCC6, RAD9A, RAD51, RAD52 or WRN. Activates the proapoptotic pathway when the DNA damage is too severe to be repaired. Phosphorylates TP73, a primary regulator for this type of damage-induced apoptosis. Phosphorylates the caspase CASP9 on 'Tyr-153' and regulates its processing in the apoptotic response to DNA damage. Phosphorylates PSMA7 that leads to an inhibition of proteasomal activity and cell cycle transition blocks. ABL1 also acts as a regulator of multiple pathological signaling cascades during infection. Several known tyrosine-phosphorylated microbial proteins have been identified as ABL1 substrates. This is the case of A36R of Vaccinia virus, Tir (translocated intimin receptor) of pathogenic E.coli and possibly Citrobacter, CagA (cytotoxin-associated gene A) of H.pylori, or AnkA (ankyrin repeat-containing protein A) of A.phagocytophilum. Pathogens can highjack ABL1 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1. Regulates T-cell differentiation in a TBX21-dependent manner (By similarity). Positively regulates chemokine-mediated T-cell migration, polarization, and homing to lymph nodes and immune-challenged tissues, potentially via activation of NEDD9/HEF1 and RAP1 (By similarity). Phosphorylates TBX21 on tyrosine residues leading to an enhancement of its transcriptional activator activity (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Screening for ABL1 chimeric genes could be performed in patients with ALL, more particularly in those with T-cell ALL because ABL1 modulates T-cell development and plays a role in cytoskeletal remodeling processes in T cells. Review article, [RefSeq, PubMed]; This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 67, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 73, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A3KFJ3;Q13869;Q13870;Q16133;Q17R61;Q45F09", "ec_number_list": "2.7.12.2;2.7.10.1;2.7.10.2;2.7.11.1;2.7.12.1;2.7.11.22;2.7.1.40;2.7.1.32;2.7.1.82;2.7.10.4;2.7.11.24;3.6.5.2;2.7.11.13;2.7.11.23", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0001784 phosphotyrosine residue binding;GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0003785 actin monomer binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:1903055 positive regulation of extracellular matrix organization;GO:0071103 DNA conformation change;GO:0036211 protein modification process;GO:1903905 positive regulation of establishment of T cell polarity;GO:2000042 negative regulation of double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 58.0, "record_id": "P00519-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95477-1", "uniprot_id": "ABCA1_HUMAN", "mass": 254302.0, "length": 2261, "protein_name": "Phospholipid-transporting ATPase ABCA1", "gene_name": "ABCA1", "organism": "Human", "refseq_name": "phospholipid-transporting ATPase ABCA1", "refseq_ac": "NP_005493", "gene_names_uniprotkb": "ABCA1; ABC1; CERP", "gene_names_refseq": "ABC-1; ABC1; ABCA1; CERP; HDLCQTL13; HDLDT1; HPALP1; TGD", "protein_names_uniprotkb": "Phospholipid-transporting ATPase ABCA1; 7.6.2.1; ABC-1; ATP-binding cassette 1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; Cholesterol efflux regulatory protein", "protein_names_refseq": "ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter A1; ATP-binding cassette, sub-family A (ABC1), member 1; cholesterol efflux regulatory protein; membrane-bound; phospholipid-transporting ATPase ABCA1", "tax_id": 9606, "disease": "primary hypoalphalipoproteinemia 1 (Disease Ontology:DOID:0080957); aortic atherosclerosis (Disease Ontology:DOID:10230); Alzheimer's disease (Disease Ontology:DOID:10652); premature menopause (Disease Ontology:DOID:10787); membranous glomerulonephritis (Disease Ontology:DOID:10976); familial hyperlipidemia (Disease Ontology:DOID:1168); primary biliary cholangitis (Disease Ontology:DOID:12236); extrahepatic cholestasis (Disease Ontology:DOID:13619); hypolipoproteinemia (Disease Ontology:DOID:1387); Tangier disease (Disease Ontology:DOID:1388); alcohol use disorder (Disease Ontology:DOID:1574); coronary artery disease (Disease Ontology:DOID:3393); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:19); (R-HSA-1989781); (R-HSA-5682113); (R-HSA-8963896); (R-HSA-9029569)", "pathway_count": 5, "publication_count": 169, "publication_id_list": "10.1101/2023.09.13.557529;10092505;10431236;10431237;10431238;10533863;10706591;10777541;10858438;10884428;10938021;11086027;11149950;11237011;11238261;11257260;11257261;11267664;11279031;11352567;11476961;11476965;11500512;11604492;11785958;11875109;12009425;12032151;12032171;12111371;12111381;12118000;12150943;12177166;12196520;12204794;12407001;12454263;12505311;12509412;12582161;12612088;12624133;12709788;12763760;12869555;12966036;14576201;14703507;14754908;14764426;15019541;15067378;15130092;15147902;15158913;15262183;15280376;15297675;15520867;15635043;15722566;15790791;16226177;16380219;16548525;16959974;16972786;17071617;17186944;17205124;17478755;17580958;17604270;18354102;18452278;18540824;18719978;18776170;18782758;18848529;19088433;19159218;19258317;19481530;19556522;19710929;19934321;20110263;20466882;20466885;20494359;20566875;20855588;21187453;21310851;21507939;22299025;22541735;22673513;23496987;23519696;23790976;23931754;24097981;24190977;24196956;26984517;27535533;27543614;28082258;28834231;28842423;28869506;28882873;28904123;29314611;29351928;29393594;29557506;29632711;29741879;29772548;29786170;30429286;31154438;31222486;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32938616;32983136;33392160;33592498;33691108;33912179;33936100;33968037;34087483;34171305;34185709;34357683;34509645;35051231;35154160;35561310;35580925;35974019;36010968;36215666;36241641;36284347;37074911;37938771;38734775;38740636;38901534;38928502;39201292;7685352;7892212;8647822;9012850;9748239", "class_list": "", "function": "Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981, PubMed:35974019). Thereby, participates in phospholipid transfer to apolipoproteins to form nascent high density lipoproteins/HDLs (PubMed:14754908). Transports preferentially phosphatidylcholine over phosphatidylserine (PubMed:24097981). May play a similar role in the efflux of intracellular cholesterol to apolipoproteins and the formation of nascent high density lipoproteins/HDLs (PubMed:10533863, PubMed:14754908, PubMed:24097981, PubMed:35974019). Translocates phospholipids from the outer face of the plasma membrane and forces it through its gateway and annulus into an elongated hydrophobic tunnel in its extracellular domain (PubMed:35974019)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Decreased mRNA expression of NR1H3 and ABCA1 in pulmonary tuberculosis patients from population of Punjab, India. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and Molecular Simulation of Genetic Variants in ABCA1 Gene Associated with Susceptibility to Dyslipidemia in Type 2 Diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Inflammatory corpuscle AIM2 facilitates macrophage foam cell formation by inhibiting cholesterol efflux protein ABCA1. Publication Status: Online-Only, [RefSeq, PubMed]; Involvement of Expression of miR33-5p and ABCA1 in Human Peripheral Blood Mononuclear Cells in Coronary Artery Disease. Publication Status: Online-Only, [RefSeq, PubMed]; The ABCA1 gene polymorphisms rs1800977 and rs2230806 are differentially associated with the risk for myocardial infarction in Slovenian subjects with type 2 diabetes mellitus., [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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]., [RefSeq]", "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": 10, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 10, "reported_mutagensis": 23, "reported_glycation": 0, "reported_snv": 98, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 17, "glyco_site_count": 23, "binding_glycan_count": 0, "secondary_ac_list": "Q5VX33;Q96S56;Q96T85;Q9NQV4;Q9UN06;Q9UN07;Q9UN08;Q9UN09", "ec_number_list": "3.5.1.-;3.5.1.98;7.6.2.1;7.6.2.-;7.6.2.2;2.7.11.11;2.3.1.48;3.6.4.-;2.1.1.319;2.3.1.-;2.1.1.-;3.1.13.1;5.6.2.6;3.6.4.13;3.1.26.n2;5.6.2.5;2.3.1.225", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005524 ATP binding;GO:0034185 apolipoprotein binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0051117 ATPase binding", "go_cellular_component": "GO:0097708 intracellular vesicle;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0008203 cholesterol metabolic process;GO:0010875 positive regulation of cholesterol efflux;GO:0033700 phospholipid efflux", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "O95477-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10636-1", "uniprot_id": "TAU_HUMAN", "mass": 78928.0, "length": 758, "protein_name": "Microtubule-associated protein tau", "gene_name": "MAPT", "organism": "Human", "refseq_name": "microtubule-associated protein tau isoform 6", "refseq_ac": "NP_001116538", "gene_names_uniprotkb": "MAPT; MAPTL; MTBT1; TAU", "gene_names_refseq": "DDPAC; FTD1; FTDP-17; MAPTL; MAPT; MSTD; MTBT1; MTBT2; PPND; PPP1R103; TAU; Tau-PHF6; tau-40", "protein_names_uniprotkb": "Microtubule-associated protein tau; Neurofibrillary tangle protein; PHF-tau; Paired helical filament-tau", "protein_names_refseq": "G protein beta1/gamma2 subunit-interacting factor 1; PHF-tau; Tau-derived paired helical filament hexapeptide; microtubule-associated protein tau isoform 6; neurofibrillary tangle protein; paired helical filament-tau; protein phosphatase 1, regulatory subunit 103", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); frontotemporal dementia 1 (Disease Ontology:DOID:0051060); late onset Parkinson's disease (Disease Ontology:DOID:0060892); Parkinsonism (Disease Ontology:DOID:0080855); traumatic brain injury (Disease Ontology:DOID:0081292); Alzheimer's disease (Disease Ontology:DOID:10652); amnestic disorder (Disease Ontology:DOID:10914); Pick's disease (Disease Ontology:DOID:11870); Creutzfeldt-Jakob disease (Disease Ontology:DOID:11949); neurodegenerative disease (Disease Ontology:DOID:1289); dementia (Disease Ontology:DOID:1307); Parkinson's disease (Disease Ontology:DOID:14330); cognitive disorder (Disease Ontology:DOID:1561); breast cancer (Disease Ontology:DOID:1612); epilepsy (Disease Ontology:DOID:1826); brain ischemia (Disease Ontology:DOID:2316); temporal lobe epilepsy (Disease Ontology:DOID:3328); middle cerebral artery infarction (Disease Ontology:DOID:3525); essential tremor (Disease Ontology:DOID:4990); progressive supranuclear palsy (Disease Ontology:DOID:678); tauopathy (Disease Ontology:DOID:680); vascular dementia (Disease Ontology:DOID:8725); frontotemporal dementia (Disease Ontology:DOID:9255); obesity (Disease Ontology:DOID:9970); progressive supranuclear palsy-parkinsonism syndrome (MONDO:MONDO:0009839)", "pathway": " (hsa:4137); (R-HSA-264870)", "pathway_count": 2, "publication_count": 242, "publication_id_list": "10.1101/2023.09.13.557529;10090741;10208578;10214944;10374757;10412802;10469173;10489057;10534245;10553987;10564664;10604746;10737616;10747907;10794842;10802785;10823823;10891503;10891598;10899436;10899937;11071507;11089577;11104762;11117541;11117542;11220749;11237011;11278002;11311121;11313338;11423904;11585254;11601501;11689006;11889249;11891833;11906000;11921059;12226093;12325083;12387894;12473774;12509859;1336152;1420178;14517953;14595660;14636947;14690523;14761950;14991828;14991829;14999081;1512244;15228592;15356202;15365985;15546861;15705853;15883319;15953362;16014719;16157753;16240366;16443603;16519507;16645045;16877359;16923168;16964243;16982696;17078951;1713721;17229088;1735956;17482548;17562708;17906291;18070606;18220336;18599021;1899488;1915258;19451179;19542233;19690332;20020531;20080974;20110609;20308788;20679343;20706749;20831597;21204788;21215781;21327254;21387172;21573099;21794954;21985311;22003387;22606286;22723997;23186163;23583109;23634895;23666762;23977276;23983461;24033439;24113653;24275569;24367683;24444746;24559475;2484340;2495000;2498079;25096780;25165879;2516729;25524708;25641096;25651436;25735452;25963821;25974414;26014385;26086902;26095350;26223541;26502977;26629858;26828481;27071766;27113998;27117003;27193083;27221467;27228974;27406053;27520374;27609071;27641626;27708431;27922637;28035925;28225806;28328017;28634382;28646348;28904123;28919467;29044200;29062069;29191219;29382817;29557506;29670132;29782321;29844403;29855358;29889065;29914030;29958544;30001207;30057671;30192525;30318466;30389461;30397132;30429286;30870531;30958368;31154438;31267651;3131773;31479419;31698056;31787873;31824301;31844290;31848261;32093751;32155989;32272059;32296178;32815315;32929078;32961270;32967251;32991997;33192469;33218072;33221742;33256579;33328879;33363455;33469985;33597014;33629708;34220449;34995924;35007758;35051231;35064472;35339839;35378696;35600626;35698879;36030903;36203870;36453396;36463652;36888912;37938771;38484799;39154163;39164997;39304655;39337715;39455624;7489707;7706316;8804716;8835879;8892109;8999860;9323209;9326300;9614189;9624143;9629852;9641683;9735171;9736786;9771888;9789048;9832145;9930654;9973279", "class_list": "", "function": "CYP1B1-RMDN2 Alzheimer's disease endophenotype locus identified for cerebral tau PET. Publication Status: Online-Only, [RefSeq, PubMed]; MAPT haplotype-associated transcriptomic changes in progressive supranuclear palsy. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphorylated tau in cerebrospinal fluid-derived extracellular vesicles in Alzheimer's disease: a pilot study. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity (PubMed:21985311). The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both (PubMed:21985311, PubMed:32961270). Axonal polarity is predetermined by TAU/MAPT localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization., [UniProtKB, PubMed, PubMed]; Synaptic gene expression changes in frontotemporal dementia due to the MAPT 10 + 16 mutation., [RefSeq, PubMed]; Synergistic Effect between the APOE epsilon4 Allele with Genetic Variants of GSK3B and MAPT: Differential Profile between Refractory Epilepsy and Alzheimer Disease. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [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": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 3, "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": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 149, "reported_mutagensis": 14, "reported_glycation": 13, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 25, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "P18518;Q14799;Q15549;Q15550;Q15551;Q1RMF6;Q53YB1;Q5CZI7;Q5XWF0;Q6QT54;Q9UDJ3;Q9UMH0;Q9UQ96", "ec_number_list": "", "go_molecular_function": "GO:1902936 phosphatidylinositol bisphosphate binding;GO:0003680 minor groove of adenine-thymine-rich DNA binding;GO:0099077 histone-dependent DNA binding;GO:0003677 DNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0031110 regulation of microtubule polymerization or depolymerization;GO:0033044 regulation of chromosome organization;GO:0046785 microtubule polymerization;GO:1900452 regulation of long-term synaptic depression;GO:1990416 cellular response to brain-derived neurotrophic factor stimulus", "synthesized_glycan_count": 0, "hit_score": 25.3, "record_id": "P10636-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZP0-1", "uniprot_id": "ABI1_HUMAN", "mass": 55081.0, "length": 508, "protein_name": "Abl interactor 1", "gene_name": "ABI1", "organism": "Human", "refseq_name": "abl interactor 1 isoform b", "refseq_ac": "NP_001012768", "gene_names_uniprotkb": "ABI1; SSH3BP1", "gene_names_refseq": "ABI-1; ABI1; ABLBP4; E3B1; NAP1BP; SSH3BP1; SSH3BP", "protein_names_uniprotkb": "Abl interactor 1; Abelson interactor 1; Abi-1; Abl-binding protein 4; AblBP4; Eps8 SH3 domain-binding protein; Eps8-binding protein; Nap1-binding protein; Nap1BP; Spectrin SH3 domain-binding protein 1; e3B1", "protein_names_refseq": "Abelson interactor 1; Abl-interactor protein 1 long; abl interactor 1 isoform b; abl-binding protein 4; eps8 SH3 domain-binding protein; interactor protein AblBP4; nap1 binding protein; spectrin SH3 domain-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10006); (R-HSA-2029482); (R-HSA-4420097); (R-HSA-5663213); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013423); (R-HSA-9664422)", "pathway_count": 8, "publication_count": 427, "publication_id_list": "10.1101/2023.09.13.557529;10037737;10075701;10207622;10219243;10232922;10395673;10464238;10490598;10496324;10508610;10523665;10523675;10526156;10559246;10559936;10579713;10618392;10677529;10692392;10699171;10699464;10724160;10744763;10749680;10781580;10847683;10873802;10878810;10958683;10995437;11003655;11007481;11058585;11085924;11145705;11149925;11157975;11231582;11237011;11276226;11278486;11329366;11340081;11373293;11396949;11418237;11431473;11432776;11553796;11584276;11672528;11695992;11696015;11704860;11707441;11747816;11756552;11773441;11803464;11804587;11804589;11804590;11829459;11854399;11884391;11912491;11919634;11956649;11961559;12055636;12071859;12093360;12096337;12105426;12134158;12189515;12195014;12213210;12214271;12215529;12221096;12235133;12351724;12391143;12432077;12464388;12531887;12546821;12547822;12650940;12660731;12665586;12665801;12681507;12743368;12810700;12820653;12857875;12877655;12923183;1314888;14512443;14514689;1464587;14675773;14676198;14718541;14724572;15023524;15026417;15033976;15040784;15064355;15107133;15133129;15147912;15169870;15247219;15302923;15308668;15339924;15342493;15452139;15485661;15507211;15542837;15579468;15601624;15611138;15657136;15688067;15695828;15728722;15814684;15850391;15858067;15897194;15962004;16002401;16081809;16112081;16116428;16184169;16243035;16243036;16262445;16336962;16417406;16473593;16492808;16497976;16507994;16519628;16546099;1660188;16636067;16641196;16702231;16760434;16762923;16777452;16777849;16862148;16880808;16896804;16914516;16966330;16968698;17030947;17060455;17077126;17081983;17145773;17158234;17188549;17196961;17199126;17202194;17214551;17237347;17244649;17269730;17293873;17308335;17322306;17389395;17583407;17599059;17686471;17698854;17702745;17765681;17804252;17976533;18006505;18045877;18056264;18070890;18083107;18088087;18191593;18218625;18249095;18328268;18347018;18391171;18396277;18426980;18491316;18653540;18662984;18669648;18691976;18697831;18707149;18838382;19230644;19267251;19269969;19494238;19534724;19605563;19651622;19673492;19713215;19741094;19798448;19901323;19934221;19955216;20068231;20400958;20460433;20598684;20658524;20679435;20810653;21037092;21148482;21151158;21320496;21378159;21406692;21419341;21445309;21542010;21565175;21613211;21730051;21865595;21900237;21989057;22004470;22096251;22223895;22298643;22327215;22407364;22475431;22608513;22689825;22734669;22970203;22993434;23186163;23209303;23216836;23255595;23288169;23434736;23481700;23572525;23675550;23707487;23718289;23757206;23870057;23940355;24086303;24259668;24275569;24335996;24352656;24366607;24623723;24715725;2474607;24859002;24913355;24933155;24960694;25024229;25121749;25211221;25418920;25428919;25576301;25645385;25704760;25721503;25795300;25802875;25862245;26016997;26129894;26154972;26473374;26529257;26628301;26887924;26992070;27117132;27145964;27216196;27452731;27481945;27555588;27566826;27713499;27806292;27846572;28114311;28196833;28356423;28510447;29089502;29358323;29382922;29485866;29557506;30379171;30429286;30833945;30853411;31154438;31389670;31530632;31844290;31848261;31871319;32157095;32203420;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34185709;34211107;34509645;35051231;35251023;35561310;35580925;36010968;36284347;37545215;38626565;38665916;39354505;7479768;7509446;7512369;7559638;7673236;7721814;7753201;7835339;7848918;8021274;8107774;8537347;8543060;8617235;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8809042;8810315;8816443;8939998;8986718;8990121;8994827;9010225;9013646;9099726;9113980;9182576;9252344;9305890;9393975;9398617;9438849;9472046;9490638;9497316;9582072;9593709;9600938;9659915;9670022;9694699;9705280;9792683;9799231;9822598;9843499;9883880;9885284;9988689", "class_list": "", "function": "Adaptor protein Abelson interactor 1 in homeostasis and disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Circulating miR-30e-3p induces disruption of neurite development in SH-SY5Y cells by targeting ABI1, a novel biomarker for schizophrenia., [RefSeq, PubMed]; May act in negative regulation of cell growth and transformation by interacting with nonreceptor tyrosine kinases ABL1 and/or ABL2. May play a role in regulation of EGF-induced Erk pathway activation. Involved in cytoskeletal reorganization and EGFR signaling. Together with EPS8 participates in transduction of signals from Ras to Rac. In vitro, a trimeric complex of ABI1, EPS8 and SOS1 exhibits Rac specific guanine nucleotide exchange factor (GEF) activity and ABI1 seems to act as an adapter in the complex. Regulates ABL1/c-Abl-mediated phosphorylation of ENAH. Recruits WASF1 to lamellipodia and there seems to regulate WASF1 protein level. In brain, seems to regulate the dendritic outgrowth and branching as well as to determine the shape and number of synaptic contacts of developing neurons., [UniProtKB, PubMed, PubMed]; Pan-cancer transcriptomic data of ABI1 transcript variants and molecular constitutive elements identifies novel cancer metastatic and prognostic biomarkers., [RefSeq, PubMed]; This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. 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 14. [provided by RefSeq, Sep 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": 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": 36, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "A9Z1Y6;B3KX62;B4DQ58;H7BXI6;O15147;O76049;O95060;Q5T2R3;Q5T2R4;Q5T2R6;Q5T2R7;Q5T2R9;Q5W070;Q5W072;Q8TB63;Q96S81;Q9NXZ9;Q9NYB8", "ec_number_list": "", "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0045296 cadherin binding;GO:0008092 cytoskeletal protein binding;GO:0030296 protein tyrosine kinase activator activity;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0014069 postsynaptic density", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0008285 negative regulation of cell population proliferation;GO:0061098 positive regulation of protein tyrosine kinase activity;GO:0001764 neuron migration;GO:0008154 actin polymerization or depolymerization", "synthesized_glycan_count": 0, "hit_score": 43.2, "record_id": "Q8IZP0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P42568-1", "uniprot_id": "AF9_HUMAN", "mass": 63351.0, "length": 568, "protein_name": "Protein AF-9", "gene_name": "MLLT3", "organism": "Human", "refseq_name": "protein AF-9 isoform b", "refseq_ac": "NP_001273620", "gene_names_uniprotkb": "MLLT3; AF9; YEATS3", "gene_names_refseq": "AF9; MLLT3; YEATS3", "protein_names_uniprotkb": "Protein AF-9; ALL1-fused gene from chromosome 9 protein; Myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein; YEATS domain-containing protein 3", "protein_names_refseq": "ALL1-fused gene from chromosome 9 protein; KMT2A/MLLT3 fusion protein; YEATS domain-containing protein 3; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein; myeloid/lymphoid or mixed-lineage leukemia; protein AF-9 isoform b; protein AF-9; translocated to 3; translocated to, 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:4300); (R-HSA-112382); (R-HSA-674695); (R-HSA-75955)", "pathway_count": 4, "publication_count": 66, "publication_id_list": "10199401;10861294;10898795;11237011;11313498;11313499;11313972;11859374;11884399;12676794;15489290;16001262;17234882;17332896;18452278;18669648;18691976;18767875;1939271;19651622;19690332;19952111;20068231;20159561;20471948;22195968;22895430;22936661;23145062;23186163;23260655;2449431;25218447;25305204;25417107;25576301;26659056;27105114;27545619;27869121;28832583;30134174;30374167;30379171;30385749;31776511;31844290;31848261;33912179;33981976;34171305;35318648;35580925;36358022;37108167;37565737;38576284;39002676;39794553;7660122;7660129;7660130;8370526;8506309;9450929;9489704", "class_list": "", "function": "AF9 sustains glycolysis in colorectal cancer via H3K9ac-mediated PCK2 and FBP1 transcription., [RefSeq, PubMed]; Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA (PubMed:20159561, PubMed:20471948, PubMed:25417107, PubMed:27105114, PubMed:27545619). Specifically recognizes and binds acylated histone H3, with a preference for histone H3 that is crotonylated (PubMed:25417107, PubMed:27105114, PubMed:27545619, PubMed:30374167, PubMed:30385749). Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:25417107, PubMed:27105114, PubMed:27545619). Recognizes and binds histone H3 crotonylated at 'Lys-9' (H3K9cr), and with slightly lower affinity histone H3 crotonylated at 'Lys-18' (H3K18cr) (PubMed:27105114). Also recognizes and binds histone H3 acetylated and butyrylated at 'Lys-9' (H3K9ac and H3K9bu, respectively), but with lower affinity than crotonylated histone H3 (PubMed:25417107, PubMed:27105114, PubMed:30385749). In the SEC complex, MLLT3 is required to recruit the complex to crotonylated histones (PubMed:27105114, PubMed:27545619). Recruitment of the SEC complex to crotonylated histones promotes recruitment of DOT1L on active chromatin to deposit histone H3 'Lys-79' methylation (H3K79me) (PubMed:25417107). Plays a key role in hematopoietic stem cell (HSC) maintenance by preserving, rather than conferring, HSC stemness (PubMed:31776511). Acts by binding to the transcription start site of active genes in HSCs and sustaining level of H3K79me2, probably by recruiting DOT1L (PubMed:31776511). Required for DOT1L-mediated H3K79 hypermethylation at the SCNN1A promoter, resulting in transcriptional repression (By similarity). May play a role in leukemogenic gene transcription (PubMed:39794553)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Impact of MLL::AF9 Gene Rearrangement on Survival of Acute Myeloid Leukaemia Patients: An Insight into Pakistani Population., [RefSeq, PubMed]; MLL-AF9 regulates transcriptional initiation in mixed lineage leukemic cells., [RefSeq, PubMed]; Molecular Recognition of Methacryllysine and Crotonyllysine by the AF9 YEATS Domain. Publication Status: Online-Only, [RefSeq, PubMed]; The adverse impact of ecotropic viral integration site-1 (EVI1) overexpression on the prognosis of acute myeloid leukemia with KMT2A gene rearrangement in different risk stratification subtypes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 11, "reported_glycation": 0, "reported_snv": 49, "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": "B1AMQ2;B2R7B3;B7Z755;D3DRJ8;Q8IVB0", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0042393 histone binding;GO:0140030 modification-dependent protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0008023 transcription elongation factor complex;GO:0070062 extracellular exosome;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0060218 hematopoietic stem cell differentiation;GO:0045893 positive regulation of DNA-templated transcription;GO:2000096 positive regulation of Wnt signaling pathway, planar cell polarity pathway", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "P42568-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P02647-1", "uniprot_id": "APOA1_HUMAN", "mass": 30778.0, "length": 267, "protein_name": "Apolipoprotein A-I", "gene_name": "APOA1", "organism": "Human", "refseq_name": "apolipoprotein A-I isoform 1 preproprotein", "refseq_ac": "NP_000030", "gene_names_uniprotkb": "APOA1", "gene_names_refseq": "AMYLD3; APOA1; HPALP2; apo(a)", "protein_names_uniprotkb": "Apolipoprotein A-I; Apo-AI; ApoA-I; Apolipoprotein A-I(1-242); Apolipoprotein A1", "protein_names_refseq": "apo-AI; apolipoprotein A-I isoform 1 preproprotein; apolipoprotein A-I; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); primary hypoalphalipoproteinemia 2 (Disease Ontology:DOID:0080958); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); Budd-Chiari syndrome (Disease Ontology:DOID:11512); nephrotic syndrome (Disease Ontology:DOID:1184); familial hypercholesterolemia (Disease Ontology:DOID:13810); hypolipoproteinemia (Disease Ontology:DOID:1387); Parkinson's disease (Disease Ontology:DOID:14330); major depressive disorder (Disease Ontology:DOID:1470); pancreatic cancer (Disease Ontology:DOID:1793); hepatitis C (Disease Ontology:DOID:1883); atherosclerosis (Disease Ontology:DOID:1936); arteriosclerosis (Disease Ontology:DOID:2349); multiple sclerosis (Disease Ontology:DOID:2377); transitional cell carcinoma (Disease Ontology:DOID:2671); coronary artery disease (Disease Ontology:DOID:3393); cholangiocarcinoma (Disease Ontology:DOID:4947); liver cirrhosis (Disease Ontology:DOID:5082); lung small cell carcinoma (Disease Ontology:DOID:5409); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); hepatoblastoma (Disease Ontology:DOID:687); end stage renal disease (Disease Ontology:DOID:783); hyperthyroidism (Disease Ontology:DOID:7998); systemic lupus erythematosus (Disease Ontology:DOID:9074); ocular hypertension (Disease Ontology:DOID:9282); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); hypoalphalipoproteinemia, primary, 2, intermediate (MONDO:MONDO:0859238); familial apolipoprotein gene cluster deletion syndrome (MONDO:MONDO:0859290); amyloidosis, hereditary systemic 3 (MONDO:MONDO:0971008)", "pathway": " (hsa:335); (R-HSA-114608); (R-HSA-1369062); (R-HSA-1989781); (R-HSA-2168880); (R-HSA-3000471); (R-HSA-3000480); (R-HSA-381426); (R-HSA-5682113); (R-HSA-8957275); (R-HSA-8963888); (R-HSA-8963896); (R-HSA-8963901); (R-HSA-8964011); (R-HSA-8964058); (R-HSA-9707616); (R-HSA-975634); (R-HSA-977225); (R-HSA-9918432); (R-HSA-9918481); (R-HSA-9920588)", "pathway_count": 21, "publication_count": 552, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1038/emboj.2013.79;10026136;10052934;10077652;1008494;10097139;10103054;10198158;10198255;10218588;10224290;10228156;10319874;10371504;10381560;10391242;10411933;10431236;10487826;10512690;10551832;10583407;10614670;10651831;10681634;10686426;10704444;10722588;10734051;10769148;10772654;10777541;10777694;10810289;10873640;10898936;10912521;10938017;10951195;10956649;10990447;11060341;11095984;11099417;11158056;11178988;11181758;11196644;11237011;11248239;11250653;11264294;11267664;11274389;11278841;11284697;11309290;11316783;11387216;11401442;11467836;11476961;11478798;11522292;11561168;11564734;11590439;11606061;11606068;11718719;11739083;11747608;11751371;11788658;11820786;11861652;11877257;118839;11988484;11991719;12050338;12105195;12111381;12118000;12130498;12138091;12150964;12177166;12183068;12196520;12241545;12356737;12379487;12454989;12466191;12488451;12504089;12505311;12509412;12509503;12511571;12518019;1252417;12562854;12576517;12582161;12651854;12665801;12692552;1270801;12761161;12763022;12788804;1279089;12810533;12821155;12847263;12904166;12917409;12947091;12966036;13342742;1339697;13472068;1370451;1383255;1435334;14506261;14519844;14559902;14567678;14570867;14592415;14609958;14630798;14726519;14732096;14762106;15007061;1502149;15044640;15064394;15067378;15084397;15108119;15126567;15130092;15175654;15209530;15280376;15297306;15308688;15314690;15326314;15358783;1542003;15448162;15469690;15485880;15498770;15525596;15542058;15574409;15576377;15583000;15635043;15642270;15665827;15690042;15697213;15761026;15866482;15922294;15947085;15962837;15994327;16007253;16030018;16046400;16091367;16174740;16189277;16200213;16237101;16276419;16326978;16368683;16380219;164450;1646599;16488891;16525990;16548525;16778136;16799559;16882874;16926412;16939223;16968945;16972786;16984918;17008602;17047378;1704890;17071617;17101731;17102136;1713244;17179669;17237796;17249697;17312271;17332894;1742316;17425515;17478755;17525477;17580958;17604270;17644776;17652309;17709607;17710648;17845074;17876058;17985932;18006707;18037887;18065497;18070888;18087047;18295589;1837051;18449172;18458151;18460466;1848237;18484335;1849145;18496526;18507396;1852209;18540824;18556779;18558917;1856611;18719978;18848529;1898657;19011241;1901417;19014918;19073604;19088433;1909888;19139408;19227971;19237602;19324878;19531498;19556522;19567873;19650691;19658395;19710360;19710929;19740737;19754307;19824718;19828817;19911804;19934321;19945452;20110263;20360967;204308;20430887;20581824;20676056;20807650;20810988;20817722;20849212;20888598;20920479;20956340;2107878;2108924;21106934;2111322;2118650;2123470;21479263;21566123;21782039;21851338;21911577;2195544;22028381;22065755;22131221;22492620;2251254;22570530;22922649;2318890;23197261;23584533;23640497;23719382;23813966;2409350;24106281;24173023;24196956;24366607;24583716;24755625;2476804;2479552;24831815;24833601;24893886;2506184;2512329;2539258;25502872;25523424;26018760;26073399;26091039;26092250;26208004;26375851;26417681;26668317;26686862;2673706;26807092;26992070;27108190;27383988;27452731;27648369;27754849;27790215;27832191;2793848;279930;28035807;2806549;28111073;28218747;28228285;28228593;2833496;2833500;28514659;28764923;28832583;2900981;29242379;29314611;29437277;29557506;29632711;29786170;29789417;29902443;2995392;3005308;3035556;30429286;3047170;3053705;30550790;30599162;3080684;30833945;3094007;31154438;3120314;3129297;3142462;31611695;31748741;31844290;31848261;31867016;32152943;32157095;32350084;32354867;32432721;32695117;32778820;32983136;33043033;33123756;33177556;3345742;34171305;34525359;3467373;34932366;35154160;35215835;35215846;35251023;35580925;36215666;36284347;3675579;3714052;37938771;38203658;38212711;38292140;38322516;38665916;38793607;3891754;3942763;4074707;4327491;4335615;4340992;4345202;4360812;496916;5057882;5135507;5675424;5865378;6088540;6198645;6207999;6255257;6294659;6304641;6328445;6401735;6405383;6406984;6409108;6412234;6413973;6420172;6432779;6457647;6480598;6489332;6619141;6800349;6849882;6961410;7263686;7287740;7378053;7515687;7519608;7523391;7525263;7525634;7525824;7527330;7536797;7538844;7543116;7588299;7607209;7680856;7683646;7683668;7685021;7685352;7688729;7689487;7892212;7895732;7918609;7981179;8017323;8033412;8097946;8114934;8127896;8159701;8208902;8240372;8261628;8282791;8300609;8384721;8411712;8415693;8424694;8429030;8464497;8467233;8490014;8507690;8622974;8626595;8647822;8664326;8706931;8728311;8732788;8751442;8781553;8784195;8817670;8855948;8870004;8887638;8894645;8964575;9006323;9012850;9017508;9054424;9054935;9079689;9144434;9148942;9211901;9225214;9254056;9345306;9356442;9409200;9465098;9468508;9469594;9497324;9511720;9514407;9548586;9709957;971416;9733769;9748239;9786878;9829992;9834113;9862427;9888420;9920938;9922210;9925661", "class_list": "", "function": "ApoA1, ApoB, ApoA1/B for Pathogenic Prediction of Chronic Obstructive Pulmonary Disease Complicated by Acute Lower Respiratory Tract Infection: A Cross-Sectional Study. Publication Status: Online-Only, [RefSeq, PubMed]; Follicular Fluid Proteomic Analysis of Women Undergoing Assisted Reproduction Suggests That Apolipoprotein A1 Is a Potential Fertility Marker. Publication Status: Online-Only, [RefSeq, PubMed]; Low serum apolipoprotein A1 level predicts poor prognosis of patients with diffuse large B-cell lymphoma in the real world: a retrospective study. Publication Status: Online-Only, [RefSeq, PubMed]; Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]., [RefSeq]; [75 G/A Polymorphism of Apolipoprotein A1 Gene Promoter Region in Normal Pregnant Women and Patients With Gestational Diabetes Mellitus]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 7, "reported_glycation": 1, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 2, "disease_count": 37, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K866;Q6LDN9;Q6Q785;Q9UCS8;Q9UCT8", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005543 phospholipid binding;GO:0019899 enzyme binding;GO:0034191 apolipoprotein A-I receptor binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007229 integrin-mediated signaling pathway;GO:0008203 cholesterol metabolic process;GO:0010875 positive regulation of cholesterol efflux;GO:0033700 phospholipid efflux", "synthesized_glycan_count": 0, "hit_score": 55.9, "record_id": "P02647-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q04864-1", "uniprot_id": "REL_HUMAN", "mass": 68520.0, "length": 619, "protein_name": "Proto-oncogene c-Rel", "gene_name": "REL", "organism": "Human", "refseq_name": "proto-oncogene c-Rel isoform 2", "refseq_ac": "NP_001278675", "gene_names_uniprotkb": "REL", "gene_names_refseq": "C-Rel; HIVEN86A; IMD92; REL", "protein_names_uniprotkb": "Proto-oncogene c-Rel", "protein_names_refseq": "oncogene REL, avian reticuloendotheliosis; proto-oncogene c-Rel isoform 2; proto-oncogene c-Rel; v-rel avian reticuloendotheliosis viral oncogene homolog", "tax_id": 9606, "disease": "immunodeficiency 92 (Disease Ontology:DOID:0061062); bacterial infectious disease (Disease Ontology:DOID:104); breast cancer (Disease Ontology:DOID:1612); transitional cell carcinoma (Disease Ontology:DOID:2671)", "pathway": " (hsa:5966); (R-HSA-1169091)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10066435;10230406;10321728;10514424;10593898;10823840;11237011;11460167;12070292;12118249;14695475;15024091;15102766;16301747;16356855;1740106;17428801;1756723;18462924;19066035;19909372;20449947;23301498;23982206;25418920;25576301;25892735;2666912;26929215;27454154;27862975;27920218;28218747;28228555;28649982;28832583;28904123;29242379;29351928;29437277;29493099;29557506;3016517;30315122;30410026;30429286;30484775;31103457;31154438;3129195;31844290;32157095;32265295;32350084;32357974;32574038;32983136;33214551;33298915;33592498;33912179;33936100;33968037;34357683;34561969;35051231;35561310;35580925;36241641;40307207;7479848;7479976;7575604;7628694;7809113;7831327;7862124;7957109;8152812;8387275;8670417;9056676;9135156;9315679;9721103;9859996;9914500;9990852", "class_list": "", "function": "Proto-oncogene that may play a role in differentiation and lymphopoiesis. NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. The NF-kappa-B heterodimer RELA/p65-c-Rel is a transcriptional activator., [UniProtKB]; This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q17RU2;Q2PNZ7;Q6LDY0", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006954 inflammatory response;GO:0010629 negative regulation of gene expression;GO:0045087 innate immune response;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q04864-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54274-1", "uniprot_id": "TERF1_HUMAN", "mass": 50246.0, "length": 439, "protein_name": "Telomeric repeat-binding factor 1", "gene_name": "TERF1", "organism": "Human", "refseq_name": "telomeric repeat-binding factor 1 isoform 2", "refseq_ac": "NP_003209", "gene_names_uniprotkb": "TERF1; PIN2; TRBF1; TRF1; TRF", "gene_names_refseq": "PIN2; TERF1; TRBF1; TRF1; TRF; hTRF1-AS; t-TRF1", "protein_names_uniprotkb": "Telomeric repeat-binding factor 1; NIMA-interacting protein 2; TTAGGG repeat-binding factor 1; Telomeric protein Pin2/TRF1", "protein_names_refseq": "NIMA-interacting protein 2; TTAGGG repeat-binding factor 1; telomeric protein Pin2/TRF1; telomeric repeat binding factor (NIMA-interacting) 1; telomeric repeat-binding factor 1 isoform 2", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); breast cancer (Disease Ontology:DOID:1612)", "pathway": " (hsa:7013); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-171319); (R-HSA-174411); (R-HSA-174414); (R-HSA-174417); (R-HSA-174430); (R-HSA-174437); (R-HSA-2559586); (R-HSA-9670095)", "pathway_count": 15, "publication_count": 213, "publication_id_list": "10037601;10074426;10323868;10329413;10669743;10706276;10882850;10930409;11056019;11237011;11375976;11454856;11545737;11673449;11738049;11739745;11904416;11943150;12097317;12140329;12393752;12456671;12556884;12699629;12718543;12766176;12768206;12930902;12953102;14532133;15007108;15060173;15064416;15066120;15125634;15189140;15235794;15316005;15341901;15369670;15383534;15458641;15510216;15608617;15655109;15790808;16141325;16166375;16221681;16262255;16314528;16339074;16522649;16858402;17081983;17172855;17395830;17512402;17694070;17717821;17923702;18202258;18347021;18358808;18438399;18523010;18593712;18625707;18669648;19146767;19160102;19164295;19179534;1924375;19383767;19413330;19487455;19734544;1974050;19783983;19854130;20068231;20159592;20211137;20404094;20524933;20551483;20634189;20639858;20651253;21712819;21722948;22266654;22460582;22569481;22579284;22848106;22871736;22962365;23103865;23186163;2342578;23604072;23657261;23755964;2392154;23959892;23997120;24038470;24115439;24692559;24714562;25128433;25240135;25271372;25576301;25593184;25620558;25645385;25892735;26055325;26095805;26154972;26992070;27354518;27846572;27849570;27920218;28063628;28216227;28228285;28334750;28832583;28834231;28854357;29097657;29178645;29242379;29331515;29393594;29493099;29557506;29695869;29769354;29774655;29786170;30026550;30315122;30429286;30833945;31154438;31217245;31595153;31723267;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32897882;32938616;33592498;33690611;33717175;33936100;33968037;34171305;34509645;35077681;35580925;36010968;36142374;36284347;36581221;36995171;37217939;37624885;6693436;7479006;7502076;8016081;8110764;8218289;8242751;8242752;8284199;8407958;8475094;8614633;8662714;8794855;8954124;9008167;9187114;9207108;9223305;9223306;9285814;9321410;9326950;9391075;9430628;9705289;9733514;9733515;9739097;9790531;9811839;9822671;9843217;9890904", "class_list": "", "function": "Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and negatively regulates telomere length (PubMed:31595153). Involved in the regulation of the mitotic spindle. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways., [UniProtKB, PubMed, PubMed]; Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and negatively regulates telomere length. Involved in the regulation of the mitotic spindle. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways., [UniProtKB, UniProtKB, UniProtKB]; Binds the telomeric double-stranded 5'-TTAGGG-3' repeat., [UniProtKB, UniProtKB, UniProtKB]; Compartmentalization of telomeres through DNA-scaffolded phase separation., [RefSeq, PubMed]; In Vitro Characterization of the Physical Interactions between the Long Noncoding RNA TERRA and the Telomeric Proteins TRF1 and TRF2. Publication Status: Online-Only, [RefSeq, PubMed]; In silico exploration and molecular dynamics of deleterious SNPs on the human TERF1 protein triggering male infertility., [RefSeq, PubMed]; Structural basis of telomeric nucleosome recognition by shelterin factor TRF1., [RefSeq, PubMed]; This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Multiple transcripts of this gene are alternatively spliced products. [provided by RefSeq, Aug 2022]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 10, "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": "A7XP29;Q15553;Q8NHT6;Q93029", "ec_number_list": "", "go_molecular_function": "GO:0008301 DNA binding, bending;GO:0098505 G-rich strand telomeric DNA binding;GO:0003677 DNA binding;GO:0008017 microtubule binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005819 spindle;GO:0016604 nuclear body", "go_biological_process": "GO:0051301 cell division;GO:0000723 telomere maintenance;GO:0016233 telomere capping;GO:0032211 negative regulation of telomere maintenance via telomerase;GO:0009410 response to xenobiotic stimulus", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "P54274-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13671-1", "uniprot_id": "RIN1_HUMAN", "mass": 84099.0, "length": 783, "protein_name": "Ras and Rab interactor 1", "gene_name": "RIN1", "organism": "Human", "refseq_name": "ras and Rab interactor 1 isoform 1", "refseq_ac": "NP_004283", "gene_names_uniprotkb": "RIN1", "gene_names_refseq": "RIN1", "protein_names_uniprotkb": "Ras and Rab interactor 1; Ras inhibitor JC99; Ras interaction/interference protein 1", "protein_names_refseq": "ras and Rab interactor 1 isoform 1; ras inhibitor 1; ras inhibitor JC99; ras inhibitor RIN1; ras interaction/interference protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9610); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 226, "publication_id_list": "10818110;10990452;11038176;11179213;11237011;11516400;11689439;11703925;11746448;11784320;11784866;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15886098;15914536;15958533;16207721;16373702;16410077;16497976;16525024;16525121;16571673;16641372;16754960;16880209;16950109;16964243;17043139;17132146;17189207;17208202;17239822;17287728;17322306;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18491316;1849280;18559336;18585354;18664496;18669648;18691976;18701652;18707149;18767875;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19620288;19651622;19656848;19725050;19729655;19745841;20008558;20068231;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21209314;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;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23645161;23678941;23684622;23713133;23839779;24129315;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25576301;25576336;25648148;25713415;25811598;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;27041585;27044746;27103185;27137893;27246931;27329675;28832583;29242379;29557506;31844290;32157095;32387766;32488085;32502341;32938616;32983136;33592498;33717175;33968037;33981976;34357683;34509645;35051231;35580925;36010968;38635569;39302247;7688123;7862125;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9144171;9208849;9323142;9590177;9733780", "class_list": "", "function": "Expression of RAS and RAB interactor 1 (RIN1) in head and neck tumors at selected hospital in Ghana. Publication Status: Online-Only, [RefSeq, PubMed]; Ras effector protein, which may serve as an inhibitory modulator of neuronal plasticity in aversive memory formation. Can affect Ras signaling at different levels. First, by competing with RAF1 protein for binding to activated Ras. Second, by enhancing signaling from ABL1 and ABL2, which regulate cytoskeletal remodeling. Third, by activating RAB5A, possibly by functioning as a guanine nucleotide exchange factor (GEF) for RAB5A, by exchanging bound GDP for free GTP, and facilitating Ras-activated receptor endocytosis., [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": 19, "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": "O15010;Q00427;Q96CC8", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0030139 endocytic vesicle", "go_biological_process": "GO:0006897 endocytosis;GO:0035556 intracellular signal transduction;GO:0007165 signal transduction;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 22.9, "record_id": "Q13671-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43736-1", "uniprot_id": "ITM2A_HUMAN", "mass": 29741.0, "length": 263, "protein_name": "Integral membrane protein 2A", "gene_name": "ITM2A", "organism": "Human", "refseq_name": "integral membrane protein 2A isoform 2", "refseq_ac": "NP_001165052", "gene_names_uniprotkb": "ITM2A; PRO1189", "gene_names_refseq": "BRICD2A; E25A; ITM2A", "protein_names_uniprotkb": "Integral membrane protein 2A; Protein E25", "protein_names_refseq": "BRICHOS domain containing 2A; integral membrane protein 2A isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9452)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "12975309;18292551;18507432;22299025;23783831;25502872;26375851;26811146;27920218;28063628;28228285;28467828;28832583;28904123;29242379;29314611;29393594;29557506;29632046;29632711;29786170;29789417;30315122;30524438;30573663;31154438;31217245;31438969;31844290;32265295;32350084;32727090;32897882;32983136;33298915;33592498;33912179;33968037;34161951;34185709;34357683;34433824;34440772;34932366;35154160;35251023;35580925;36765470;36988246;9653160", "class_list": "", "function": "Association of ITM2A rs1751094 polymorphism on X chromosome in Korean pediatric patients with autoimmune thyroid disease., [RefSeq, PubMed]; Downregulation of ITM2A Gene Expression in Macrophages of Patients with Ankylosing Spondylitis., [RefSeq, PubMed]; GPR174 and ITM2A Gene Polymorphisms rs3827440 and rs5912838 on the X chromosome in Korean Children with Autoimmune Thyroid Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Integral Membrane Protein 2A Is a Negative Regulator of Canonical and Non-Canonical Hedgehog Signalling. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]., [RefSeq]; [Study on the Relationship between Integrin 2A and Drug Resistance in Chronic 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R7X5;B4E062;Q6IBC9", "ec_number_list": "", "go_molecular_function": "GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0042985 negative regulation of amyloid precursor protein biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "O43736-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10721-1", "uniprot_id": "KIT_HUMAN", "mass": 109865.0, "length": 976, "protein_name": "Mast/stem cell growth factor receptor Kit", "gene_name": "KIT", "organism": "Human", "refseq_name": "mast/stem cell growth factor receptor Kit isoform 1 precursor", "refseq_ac": "NP_000213", "gene_names_uniprotkb": "KIT; SCFR", "gene_names_refseq": "C-Kit; CD117; KIT; MASTC; PBT; SCFR", "protein_names_uniprotkb": "Mast/stem cell growth factor receptor Kit; 2.7.10.1; PBT; Piebald trait protein; Proto-oncogene c-Kit; SCFR; Tyrosine-protein kinase Kit; p145 c-kit; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog", "protein_names_refseq": "c-Kit protooncogene; mast/stem cell growth factor receptor Kit isoform 1 precursor; mast/stem cell growth factor receptor Kit; p145 c-kit; piebald trait protein; proto-oncogene c-Kit; proto-oncogene tyrosine-protein kinase Kit; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein", "tax_id": 9606, "disease": "Hirschsprung's disease (Disease Ontology:DOID:10487); gastroschisis (Disease Ontology:DOID:11044); urinary bladder cancer (Disease Ontology:DOID:11054); male infertility (Disease Ontology:DOID:12336); aplastic anemia (Disease Ontology:DOID:12449); cancer (Disease Ontology:DOID:162); melanoma (Disease Ontology:DOID:1909); leiomyosarcoma (Disease Ontology:DOID:1967); nephroblastoma (Disease Ontology:DOID:2154); macrocytic anemia (Disease Ontology:DOID:2361); acute pancreatitis (Disease Ontology:DOID:2913); granulosa cell tumor (Disease Ontology:DOID:2999); invasive ductal carcinoma (Disease Ontology:DOID:3008); carcinoma (Disease Ontology:DOID:305); interstitial lung disease (Disease Ontology:DOID:3082); piebaldism (Disease Ontology:DOID:3263); mastocytosis (Disease Ontology:DOID:350); endometrial stromal sarcoma (Disease Ontology:DOID:4226); seminoma (Disease Ontology:DOID:4440); dysgerminoma (Disease Ontology:DOID:4441); renal cell carcinoma (Disease Ontology:DOID:4450); cholangiocarcinoma (Disease Ontology:DOID:4947); oxyphilic adenoma (Disease Ontology:DOID:5389); testicular germ cell cancer (Disease Ontology:DOID:5557); nephrolithiasis (Disease Ontology:DOID:585); uterine carcinosarcoma (Disease Ontology:DOID:6171); ileus (Disease Ontology:DOID:8440); acute myeloid leukemia (Disease Ontology:DOID:9119); gastrointestinal stromal tumor (Disease Ontology:DOID:9253); neurofibroma (Disease Ontology:DOID:962)", "pathway": " (hsa:3815); (R-HSA-1257604); (R-HSA-1433557); (R-HSA-1433559); (R-HSA-2219530); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-8866910); (R-HSA-9669914); (R-HSA-9669917); (R-HSA-9669921); (R-HSA-9669924); (R-HSA-9669926); (R-HSA-9669929); (R-HSA-9669933); (R-HSA-9669934); (R-HSA-9669935); (R-HSA-9669936); (R-HSA-9670439); (R-HSA-9680187); (R-HSA-9856649); (R-HSA-9927418); (R-HSA-9927426)", "pathway_count": 23, "publication_count": 474, "publication_id_list": "10.1101/2023.09.13.557529;10086344;10191262;10224103;10358045;10362788;10374881;10377264;10397721;10497269;10508167;10523831;10523834;10567402;10611221;10648798;10655586;10673502;10679268;10869344;10884405;11018522;11027551;11027663;11074500;11074560;11090077;11136978;11147812;11237011;11313946;11369651;11395417;11494148;11505412;11520784;11546808;11702783;11707405;11803464;11809791;11825908;11840323;11891324;11912130;11930005;11994499;12032311;12062105;12094235;12121613;12167717;12181401;12192036;12444928;12475982;12481435;12511554;12580961;12660731;12697809;12767043;1279499;12801532;12824176;12878163;1325671;1370874;1371879;1375232;1376329;1381360;1382595;14506247;14695343;14707138;14744778;14975237;15007386;15010069;15039213;15118077;15123710;15143187;15173254;15226305;15342366;15356145;15363456;1545823;15507434;15512820;15526160;15546878;15625120;15718470;15790786;15824741;15834429;15837988;15870067;15902997;15911092;15946589;15948115;15972446;16014379;16015044;16034366;16081693;16129412;16175573;16188233;16189265;16307017;16335952;16339315;16373716;16397263;16456541;16483568;16570044;16597595;16627759;16647110;16647948;16684964;16707477;16737840;16740725;16741525;16751810;16780420;16783341;16822840;16873377;16908864;1698554;17065430;17156394;1716764;1717985;17193819;17193822;17200115;1721591;17255936;17259998;17344430;17344846;17363509;17452978;1748288;17489795;17545544;17546049;17595334;17623675;17626883;17662946;17699867;17824795;17875504;17904548;17998543;17998941;18079394;18098338;18165278;18214972;18317450;18381929;18491316;18510589;18588518;18593464;18594509;18606717;18644867;18697750;18724244;18754654;18755892;18775330;18829560;18925875;18936790;18986703;1898771;19049823;19104514;19164557;19185485;19265199;19279408;19318566;19369195;19390946;19411071;19524539;19576174;19608861;19617878;19636292;19644473;19671763;19698218;19718013;19723893;19729359;19802003;19805105;19843847;19865100;19920141;19962665;20147452;20231295;20304997;20338997;20460180;20471335;20478380;20522708;20581866;20601678;20658618;20685234;20713702;20927104;21030588;21057534;21102635;21135090;21159146;21188471;21262832;21317208;21368164;21372320;21478295;21486943;21498700;21501463;21569090;21640708;21668414;21689725;21779497;21779505;21827948;21887372;21965087;21976531;21984976;21993244;22089421;22120714;22145956;22173243;22188813;22449623;22569528;22588880;22589270;22626674;22647378;22665524;22750304;22802530;22835433;22847983;22932406;22937135;23073628;23090970;23103841;23107788;23159739;23190890;23207919;23303910;23443682;23459373;23480638;23575685;23683787;23684889;23803604;23940219;24241126;24289326;24317392;24458279;24465823;2448137;24552773;24565205;24596674;24687822;24744618;24897931;24937142;24959227;24968822;25015329;25209843;25219551;25239608;25247397;25248477;25572173;25595898;25717186;25729733;25735500;25772240;25780536;25781681;26085527;26308378;26498480;26832794;26893362;26942271;27128622;27153441;27527414;27536065;27771229;27781377;28192400;28212996;28255023;28394346;28403213;28478525;28487491;28506695;28584020;28762080;28778966;28840997;28915580;28923937;29093181;29151134;29295999;29331029;29334307;29340041;29482074;29557506;29670776;29671580;29704617;29731959;29741879;29964125;30142229;30242244;30274985;30792533;30792534;30804224;31085175;31135801;31154438;31309543;31471313;31484543;31824842;31857719;32157095;32350084;32530065;32541319;32636443;33592498;33744299;33912179;34140478;35051231;35251023;35318648;35406805;35580925;36284347;37074911;37376412;37770430;38178783;38201246;38408285;38507654;38887855;5338216;6148751;7505199;7506248;7506952;7509796;7513208;7520444;7523381;7526158;7530509;7536744;7537096;7539802;7637810;7680037;7684496;7687267;7691885;7744773;7809086;7891714;7935463;7958932;7972015;8052307;8336698;8394845;8493579;8611693;8636116;8645157;8647802;8657148;8665852;8680409;8695790;8710374;8774734;8895516;8939933;8950973;8990121;9027509;9029028;9038210;9045650;9111318;9162057;9182571;9199364;9256427;9341198;9353119;9355737;9438854;9440696;9446650;9450866;9528781;9560246;9604935;9657776;9676189;9687504;9697690;9699740;9736715;9760192;9788619;9799234;9827716;9850080;9872323;9895304;9927426;9973413;9990072", "class_list": "", "function": "CREB Is Indispensable to KIT Function in Human Skin Mast Cells-A Positive Feedback Loop between CREB and KIT Orchestrates Skin Mast Cell Fate. Publication Status: Online-Only, [RefSeq, PubMed]; KIT ATP-Binding Pocket/Activation Loop Mutations in GI Stromal Tumor: Emerging Mechanisms of Kinase Inhibitor Escape., [RefSeq, PubMed]; Molecular and clinicopathological features of KIT/PDGFRA wild-type gastrointestinal stromal tumors., [RefSeq, PubMed]; Novel Germline KIT Variants in Families With Severe Piebaldism: Case Series and Literature Review. Review article, [RefSeq, PubMed]; Stem cell factor and cKIT modulate endothelial glycolysis in hypoxia., [RefSeq, PubMed]; This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical form of this glycosylated transmembrane protein has an N-terminal extracellular region with five immunoglobulin-like domains, a transmembrane region, and an intracellular tyrosine kinase domain at the C-terminus. Upon activation by its cytokine ligand, stem cell factor (SCF), this protein phosphorylates multiple intracellular proteins that play a role in in the proliferation, differentiation, migration and apoptosis of many cell types and thereby plays an important role in hematopoiesis, stem cell maintenance, gametogenesis, melanogenesis, and in mast cell development, migration and function. This protein can be a membrane-bound or soluble protein. Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020]., [RefSeq]; Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B. Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 10, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 11, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 12, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 36, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 168, "reported_interactions": 0, "missing_score": 8818, "biomarker_type": "", "glycan_count": 26, "disease_count": 30, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B5A956;D5LXN2;D5M931;F5H8F8;Q6IQ28;Q99662;Q9UM99", "ec_number_list": "2.7.1.153;2.7.1.137;2.7.12.2;2.7.11.1;2.7.10.1;2.7.10.2;2.7.12.1;1.2.1.36;1.2.1.19;1.2.1.3;1.2.1.28;3.6.5.2;2.7.1.40;6.1.1.12;2.7.11.13;3.1.3.48;2.3.2.27;2.7.11.24;2.7.1.32;2.7.1.82;2.7.10.4;6.1.1.5;6.1.1.18;2.7.1.154;6.1.1.19;6.1.1.10;3.2.2.6;2.7.11.17;2.7.11.23;2.7.7.-;6.1.1.6;6.1.1.4", "go_molecular_function": "GO:0002020 protease binding;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0019838 growth factor binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0043235 receptor complex;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:1904349 positive regulation of small intestine smooth muscle contraction;GO:0002327 immature B cell differentiation;GO:0035162 embryonic hemopoiesis;GO:0038093 Fc receptor signaling pathway;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 51.2, "record_id": "P10721-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P16333-1", "uniprot_id": "NCK1_HUMAN", "mass": 42864.0, "length": 377, "protein_name": "SH2/SH3 adapter protein NCK1", "gene_name": "NCK1", "organism": "Human", "refseq_name": "SH2/SH3 adapter protein NCK1 isoform 2", "refseq_ac": "NP_001177725", "gene_names_uniprotkb": "NCK1; NCK", "gene_names_refseq": "NCK1; NCKalpha; NCK; nck-1", "protein_names_uniprotkb": "SH2/SH3 adapter protein NCK1; Cytoplasmic protein NCK1; NCK adapter protein 1; Nck-1; SH2/SH3 adapter protein NCK-alpha", "protein_names_refseq": "NCK adapter protein 1; NCK tyrosine kinase; SH2/SH3 adapter protein NCK-alpha; SH2/SH3 adapter protein NCK1 isoform 2; SH2/SH3 adapter protein NCK1; SH2/SH3 adaptor protein NCK-alpha; cytoplasmic protein NCK1; melanoma NCK protein; non-catalytic region of tyrosine kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:4690); (R-HSA-186763); (R-HSA-202433); (R-HSA-2029482); (R-HSA-373753); (R-HSA-418885); (R-HSA-428540); (R-HSA-4420097); (R-HSA-5663213); (R-HSA-9013420); (R-HSA-9013424); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-9833482); (R-HSA-983695)", "pathway_count": 15, "publication_count": 505, "publication_id_list": "10026169;10037737;10051622;10075701;10082513;10087012;10207622;10219243;10348343;10393930;10395673;10400669;10432293;10496324;10498607;10508235;10541305;10556826;10559936;10579907;10611248;10620360;10626894;10648173;10648614;10671560;10677529;10692392;10706702;10724160;10744763;10747096;10747847;10749680;10770799;10781580;10805734;1081164;10811803;10848580;10866685;10878810;10880360;10983984;10995436;10995437;11007481;11042164;11048639;11071869;11096080;11134010;11152499;11156368;11157975;11226282;11231582;11237011;11238103;11238927;11276226;11278486;11278865;11313968;11329366;11337501;11340081;11350938;11390650;11438540;11449366;11459829;11500375;11553796;11562357;11606584;11607830;11695992;11696015;11733557;11747816;11752630;11781817;11804587;11817894;11829459;11854399;11901194;11909525;11909947;11939789;11985496;12055636;12091389;12105426;12134158;12149262;12181444;12189515;12213210;12214271;12215529;12231563;12235133;12391143;12397061;12453414;12456653;12464388;12573241;12660326;12660731;12668668;12743368;12810700;12820653;12846735;12865409;12882984;1314164;1314888;1333046;1372019;1373135;1374290;1374684;1375264;1375321;1376928;1396585;1448108;14510693;14521508;14570703;14585331;14633607;14676198;14724572;15026417;15040784;15144186;15161916;15187135;15229216;15247219;15299030;15308668;15331416;15350535;15452139;15469942;15494732;15494734;15504032;1550550;15509800;15545998;15556869;15557120;15579503;15634346;15657136;15688067;15695828;15737233;15752359;15788770;15843475;15907845;15951569;15960985;15962004;15994232;1599430;16115318;16179258;16179259;16262445;16336962;16373505;16431927;16497976;16522641;16525419;16543952;16546099;16600570;16630808;16641196;16702231;16717090;16760434;16835242;16849466;16880808;16906149;1695551;16966330;16982605;17016520;1702903;17030947;1705565;17079286;17081983;17188549;17196820;17199126;17202194;17224452;17237347;17287340;17293873;17308335;17355222;17389395;17452328;17486119;17504809;17652306;17662961;17686471;17803907;17893108;17923684;18006696;18025150;18033240;18052078;18066058;18070890;18088087;18096616;18187424;18212043;18212344;18253061;18269246;18296648;18326500;18391171;18420269;18596693;18669648;18707149;18818202;18835251;18843204;18957415;18995841;19064640;19206206;19229320;19230644;19249086;19267251;19372136;19416861;19443634;19651622;19690332;19710021;19733181;19741094;19804757;19807924;19838063;19955216;20068231;2011584;20166139;20192804;20223979;20233749;20395957;20519500;20547754;20658524;20685959;21037092;21072047;2107526;21123651;21294215;21408196;21419341;21445309;21469132;21508312;21518807;21565175;21636578;21664272;21707536;21822214;21937648;21978664;21994559;22180443;22210847;22214662;22223895;22327215;22327338;22339630;22401777;2247437;22552008;22689825;22814904;22986343;2303036;2304550;23084476;23186163;23216836;23229543;23358419;23481700;23641311;23675550;23732991;24272870;24275569;24347309;24584101;24623135;24659800;2466336;2472219;2474607;24753571;25123307;25653431;25801024;25848059;25892735;26002965;26154972;26375851;26432638;26446704;26488609;26598620;26716879;26817845;26992070;27208315;27269119;27397612;27423063;27862975;27974558;28069888;28167698;28228285;28281686;28425720;28765891;28832583;28904123;29170442;29175459;29231267;29242379;29348664;29394925;29395325;29440070;29501855;29557506;29632711;29945920;30174290;30201761;30429286;30770398;30779550;31031002;31048504;31154438;31844290;31871319;31937595;32093270;32157095;32350084;32357974;32387766;32716602;32737221;32801355;32938616;32983136;33123756;33298915;33592498;33691108;33808629;33911136;33912179;33936100;33968037;33981976;34174402;34185709;34357683;34509645;34974812;3500860;35051231;35251023;35580925;35685460;35902806;35947956;36010968;36284347;36712380;37127961;37694355;37938771;4589993;6335036;7491766;7509446;7515177;7524079;7528218;7538118;7545299;7565688;7565724;7592958;7685273;7687428;7687539;7688784;7691807;7691811;7692233;7693978;7737357;7848918;7903669;7927516;7935391;803528;8163536;8265614;8306975;8388543;8443409;8576172;8576179;8617235;8647855;8657151;8661426;8798379;8809042;8810342;8824201;8861902;8910500;8940081;8947047;8986718;9034343;9079663;9099726;9115214;9182576;9235916;9326643;9341187;9344857;9382888;9393975;9398617;9430661;9442054;9472046;9484840;9488729;9521856;9528799;9546424;9600074;9600938;9687506;9697839;9705280;9705962;9737981;9739761;9778532;9799231;9819388;9843499;9846482;9883880;9885284;9920933;9950216", "class_list": "", "function": "Adapter protein which associates with tyrosine-phosphorylated growth factor receptors, such as KDR and PDGFRB, or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in the DNA damage response, not in the detection of the damage by ATM/ATR, but for efficient activation of downstream effectors, such as that of CHEK2. Plays a role in ELK1-dependent transcriptional activation in response to activated Ras signaling. Modulates the activation of EIF2AK2/PKR by dsRNA. May play a role in cell adhesion and migration through interaction with ephrin receptors., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Lack of Nck1 protein and Nck-CD3 interaction caused the increment of lipid content in Jurkat T cells. Publication Status: Online-Only, [RefSeq, PubMed]; Long noncoding RNA LINC00885 upregulates NCK1 to promote cell viability and migration of triple-negative breast cancer cells through sponging miR-654-3p., [RefSeq, PubMed]; The protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. Alternatively spliced transcript variants encoding different isoforms have been found. [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": 14, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z751;D3DNE3", "ec_number_list": "", "go_molecular_function": "GO:0071074 eukaryotic initiation factor eIF2 binding;GO:0005102 signaling receptor binding;GO:0019904 protein domain specific binding;GO:0030674 protein-macromolecule adaptor activity;GO:0046875 ephrin receptor binding", "go_cellular_component": "GO:0000164 protein phosphatase type 1 complex;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:1903679 positive regulation of cap-independent translational initiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0016477 cell migration;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 50.6, "record_id": "P16333-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUQ4-1", "uniprot_id": "SIAH1_HUMAN", "mass": 31123.0, "length": 282, "protein_name": "E3 ubiquitin-protein ligase SIAH1", "gene_name": "SIAH1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase SIAH1 isoform b", "refseq_ac": "NP_001006611", "gene_names_uniprotkb": "SIAH1; HUMSIAH", "gene_names_refseq": "BURHAS; SIAH1A; SIAH1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase SIAH1; 2.3.2.27; RING-type E3 ubiquitin transferase SIAH1; Seven in absentia homolog 1; Siah-1a; Siah-1", "protein_names_refseq": "E3 ubiquitin-protein ligase SIAH1 isoform b; E3 ubiquitin-protein ligase SIAH1; RING-type E3 ubiquitin transferase SIAH1; seven in absentia homolog 1; siah-1a", "tax_id": 9606, "disease": "Buratti-Harel syndrome (MONDO:MONDO:0859144)", "pathway": " (hsa:6477); (R-HSA-373752); (R-HSA-977225); (R-HSA-983168)", "pathway_count": 4, "publication_count": 173, "publication_id_list": "10097139;10319874;10391242;10411933;10583407;10747903;10956387;10956649;11062501;11146551;11237011;11278841;11350924;11389839;11389840;11401442;11467836;11483517;11483518;11590439;11752454;118839;12072443;12154370;12421809;12454989;12557228;12646216;1270801;12810624;14506261;14567678;14645235;14654780;14734113;15064394;15163637;15224091;15224092;15571818;15962837;16085652;16174740;16230351;16595681;16762451;16799559;16849449;16954532;17174565;17420721;17425515;18065497;18070888;1837051;18449172;18484335;1849145;18536714;18662542;18669648;19011241;19028597;19224863;19352404;19452197;19489725;19531498;19658395;19828817;19851334;19874575;19940261;20508617;20676056;20807650;2118650;2195544;22065755;22131221;22483617;2261476;23813966;2409350;24397554;24714562;24715725;24833601;24893886;25391652;25523424;26018760;26154972;26417681;26668317;26686862;26807092;26811146;26992070;27600516;27846572;27862975;27920218;279930;28228285;28546513;28832583;28834231;28904123;2900981;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30315122;3035556;30379171;30429286;3053705;30779550;3080684;3094007;31154438;3142462;31844290;31848261;31998317;32157095;32357974;32430360;32488085;32502341;32897882;32983136;33298915;33591310;33592498;33912179;33936100;34932366;35580925;35723276;35961388;36010968;36581221;3675579;37938771;38842203;39075049;8033412;8097946;8114934;8159701;8464497;8490014;8799150;8870004;9006323;9054935;9334332;9380723;9403064;9482736;9582267;9668046;9858595;9862427", "class_list": "", "function": "Deficiency of SIAH1 promotes the formation of filopodia by increasing the accumulation of FASN in liver cancer. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14506261, PubMed:14645235, PubMed:14654780, PubMed:15064394, PubMed:16085652, PubMed:19224863, PubMed:20508617, PubMed:22483617, PubMed:28546513, PubMed:32430360, PubMed:33591310, PubMed:9334332, PubMed:9858595). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:14506261, PubMed:14645235, PubMed:14654780, PubMed:15064394, PubMed:16085652, PubMed:19224863, PubMed:20508617, PubMed:22483617, PubMed:9334332, PubMed:9858595). Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes (PubMed:14506261, PubMed:14645235, PubMed:14654780, PubMed:15064394, PubMed:16085652, PubMed:19224863, PubMed:20508617, PubMed:22483617, PubMed:9334332, PubMed:9858595). Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (ELL2, MYB, POU2AF1, PML and RBBP8), a cell surface receptor (DCC), the cell-surface receptor-type tyrosine kinase FLT3, the cytoplasmic signal transduction molecules (KLF10/TIEG1 and NUMB), an antiapoptotic protein (BAG1), a microtubule motor protein (KIF22), a protein involved in synaptic vesicle function in neurons (SYP), a structural protein (CTNNB1) and SNCAIP (PubMed:10747903, PubMed:11146551, PubMed:11389839, PubMed:11389840, PubMed:11483517, PubMed:11483518, PubMed:11752454, PubMed:12072443). Confers constitutive instability to HIPK2 through proteasomal degradation (PubMed:18536714, PubMed:33591310). It is thereby involved in many cellular processes such as apoptosis, tumor suppression, cell cycle, axon guidance, transcription regulation, spermatogenesis and TNF signaling (PubMed:14506261, PubMed:14645235, PubMed:14654780, PubMed:15064394, PubMed:16085652, PubMed:19224863, PubMed:20508617, PubMed:22483617, PubMed:9334332, PubMed:9858595). Has some overlapping function with SIAH2 (PubMed:14506261, PubMed:14645235, PubMed:14654780, PubMed:15064394, PubMed:16085652, PubMed:19224863, PubMed:20508617, PubMed:22483617, PubMed:9334332, PubMed:9858595). Induces apoptosis in cooperation with PEG3 (By similarity). Upon nitric oxid (NO) generation that follows apoptotic stimulation, interacts with S-nitrosylated GAPDH, mediating the translocation of GAPDH to the nucleus (By similarity). GAPDH acts as a stabilizer of SIAH1, facilitating the degradation of nuclear proteins (By similarity). Mediates ubiquitination and degradation of EGLN2 and EGLN3 in response to the unfolded protein response (UPR), leading to their degradation and subsequent stabilization of ATF4 (By similarity). Also part of the Wnt signaling pathway in which it mediates the Wnt-induced ubiquitin-mediated proteasomal degradation of AXIN1 (PubMed:28546513, PubMed:32430360)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; FRK inhibits glioblastoma progression via phosphorylating YAP and inducing its ubiquitylation and degradation by Siah1., [RefSeq, PubMed]; SIAH1 Promotes the Pyroptosis of Cardiomyocytes in Diabetic Cardiomyopathy via Regulating IkappaB-alpha/NF-kappacapital VE, Cyrillic Signaling., [RefSeq, PubMed]; Siah1 promotes the proliferation of NSCLC cells through ubiquitinating and stabilizing Notch1., [RefSeq, PubMed]; This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 31, "reported_glycation": 0, "reported_snv": 3, "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": "A0FKF3;O43269;Q49A58;Q92880", "ec_number_list": "2.3.2.24;2.3.2.23;2.3.2.26;2.3.2.27;2.3.2.31;2.3.2.-;6.2.1.-;2.3.2.34;2.3.2.32;3.6.4.-;2.3.2.25;2.3.2.36;2.7.11.1", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity;GO:0031624 ubiquitin conjugating enzyme binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0007283 spermatogenesis;GO:0007399 nervous system development;GO:0043065 positive regulation of apoptotic process;GO:0051402 neuron apoptotic process;GO:1990000 amyloid fibril formation", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "Q8IUQ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P00533-1", "uniprot_id": "EGFR_HUMAN", "mass": 134277.0, "length": 1210, "protein_name": "Epidermal growth factor receptor", "gene_name": "EGFR", "organism": "Human", "refseq_name": "epidermal growth factor receptor isoform a precursor", "refseq_ac": "NP_005219", "gene_names_uniprotkb": "EGFR; ERBB1; ERBB; HER1", "gene_names_refseq": "EGFR; ERBB1; ERBB; ERRP; HER1; NISBD2; NNCIS; PIG61; mENA", "protein_names_uniprotkb": "Epidermal growth factor receptor; 2.7.10.1; Proto-oncogene c-ErbB-1; Receptor tyrosine-protein kinase erbB-1", "protein_names_refseq": "avian erythroblastic leukemia viral (v-erb-b) oncogene homolog; cell growth inhibiting protein 40; cell proliferation-inducing protein 61; epidermal growth factor receptor isoform a precursor; epidermal growth factor receptor tyrosine kinase domain; erb-b2 receptor tyrosine kinase 1; proto-oncogene c-ErbB-1; receptor tyrosine-protein kinase erbB-1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); nicotine dependence (Disease Ontology:DOID:0050742); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); neonatal nephrocutaneous inflammatory syndrome (Disease Ontology:DOID:0061191); alcohol-associated liver disease (Disease Ontology:DOID:0070658); Coronavirus infectious disease (Disease Ontology:DOID:0080599); Parkinsonism (Disease Ontology:DOID:0080855); intestinal cancer (Disease Ontology:DOID:10155); prostate cancer (Disease Ontology:DOID:10283); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); dilated cardiomyopathy (Disease Ontology:DOID:12930); dementia (Disease Ontology:DOID:1307); lung cancer (Disease Ontology:DOID:1324); cholestasis (Disease Ontology:DOID:13580); peptic esophagitis (Disease Ontology:DOID:13976); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); transitional cell carcinoma (Disease Ontology:DOID:2671); asthma (Disease Ontology:DOID:2841); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); pulmonary tuberculosis (Disease Ontology:DOID:2957); acute kidney failure (Disease Ontology:DOID:3021); carcinoma (Disease Ontology:DOID:305); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); breast carcinoma (Disease Ontology:DOID:3459); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); pulmonary fibrosis (Disease Ontology:DOID:3770); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); renal cell carcinoma (Disease Ontology:DOID:4450); bronchiolo-alveolar adenocarcinoma (Disease Ontology:DOID:4926); liver cirrhosis (Disease Ontology:DOID:5082); schizophrenia (Disease Ontology:DOID:5419); median neuropathy (Disease Ontology:DOID:571); aortic valve disease (Disease Ontology:DOID:62); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); lung disease (Disease Ontology:DOID:850); diabetic retinopathy (Disease Ontology:DOID:8947); colorectal cancer (Disease Ontology:DOID:9256); ornithine carbamoyltransferase deficiency (Disease Ontology:DOID:9271); diabetes mellitus (Disease Ontology:DOID:9351); steatotic liver disease (Disease Ontology:DOID:9452); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1956); (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-2179392); (R-HSA-2219530); (R-HSA-445144); (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-8857538); (R-HSA-8863795); (R-HSA-8866910); (R-HSA-9009391); (R-HSA-9013507); (R-HSA-9609690); (R-HSA-9634638); (R-HSA-9664565); (R-HSA-9665348); (R-HSA-9665686); (R-HSA-9820960); (R-HSA-9927432)", "pathway_count": 38, "publication_count": 1381, "publication_id_list": "10.1101/2023.09.13.557529;10026169;10075741;10079256;10097102;10102273;10191262;10228163;10229072;10319328;10347170;10427092;10436022;10473558;10497269;10508167;10514377;10523301;10535736;10542231;10542244;10559856;10559861;10559924;10567358;10579907;10611478;10613896;10625686;10635327;10648629;10648798;10652316;10653583;10722704;10731668;10734310;10749889;10766823;10769163;10805725;10806474;10816576;10818153;10831586;10867024;10869344;10878805;10913131;10953014;10983987;10988252;11027663;11029009;11029403;11043579;11044445;11071885;11071886;11076969;11082044;11087732;11090077;11116146;11136978;11145955;11147812;11161793;11185956;11231140;11237011;11239472;11243864;11247302;11313946;11323411;11369763;11432829;11454741;11470803;11477410;11483589;11516654;11517213;11532990;11546808;11577110;11588141;11588219;11602604;11606067;11689445;11702783;11726503;11773442;11773443;11803464;11823423;11825873;11836255;11875118;11877457;11877461;11889117;11889126;11894095;11896612;11919637;11927540;11981029;11983694;11988742;11988758;11997388;12032311;12048194;12052829;12057195;12070153;12070310;12072436;12086608;12093740;12094235;12121613;12167717;12213833;12218189;12221107;12234920;12234931;12239347;12297049;12297050;12388769;12421825;12429842;12431978;12447393;12451172;12454019;12456642;12464600;12471035;12511868;12588983;12593795;12593796;12620237;12651161;12682286;12717448;12731890;12766170;12767043;12808053;12814430;12847086;12857923;12873986;12881510;12904306;12944396;12944901;12952949;12958364;1309762;1317852;1325671;1378832;14505571;14506247;14555962;14560030;14581451;14617351;14622578;14622579;14660651;14662753;14665621;14701753;14707138;14718169;14718570;14726597;14744778;14764897;14966128;14967142;14985334;15021893;15033483;15044318;15059917;15077177;15090535;15117950;15118073;15118125;15134832;15156151;15231819;15231873;15252009;15260957;15269313;15282549;15284455;15302935;15314172;15318165;15329413;15339664;15340161;1535555;15356145;15374980;1545823;15465819;15467163;15473838;15475003;15496458;15502812;15502813;15533827;15546878;15564374;15568014;15569929;15574420;15590694;15597056;15611079;15623594;15643424;15649145;15657067;15671180;15701692;15703209;15705661;15718470;15728179;15731348;15737014;15738541;15802264;15834429;15837620;15837743;15840573;15870067;15895077;15897899;15916959;15951569;15956360;15962011;16003726;16024644;16027522;16083266;16103228;16140760;16140940;16159959;16173832;16187797;16199154;16205628;16215232;16239258;16258541;16273093;16274718;16314626;16324836;16326391;16339315;16407834;16407879;16410077;16420529;16456541;16459302;16460808;16503086;1651322;16516836;16533793;16543144;16552419;16627759;16636149;16645038;16647110;16672372;16684964;16707488;16723738;1672440;16729043;16777603;16778591;16785992;16798879;16799092;16818686;16818687;16835357;16843263;16849543;16857803;16870303;16880396;1688559;16890322;1689311;16903783;16912157;16943190;16947044;16953218;16969069;16978839;17016520;17018281;17030621;17035995;17037979;17045698;1706616;17081983;17085664;17115032;17158794;1716764;17177598;17182860;17198584;17200115;17236554;17253643;17267500;17311002;17334392;17335935;17344846;17349580;17360967;17372273;17389395;17409892;17410005;17424910;17426253;17456551;17494869;17510392;17512409;17522231;17525128;17535799;17537621;17540576;17545517;17548322;17573511;17609109;17613438;17626883;17646270;17646646;17649787;17652160;17653080;17671655;17681954;17686547;17695517;17699773;17699786;17712310;17713526;17726540;17762867;17765681;17875767;17877814;17909029;17913857;17916740;17921256;17978091;17998543;17998941;18032517;18039657;18045866;18046415;18079394;18093523;18166656;18186271;18199683;18203656;18206197;18208799;18220336;18222703;18227510;18317450;18355544;18388313;18391968;18397279;1840698;18413839;18452278;18478265;1847920;18491316;18509184;18535146;18555990;18594509;18602463;18606717;18657504;18669648;18676744;18691976;18707149;18719096;18721752;18754654;18755892;18767875;18775314;18775330;18785877;18789131;18790740;18794545;18819912;18829560;18925875;18955552;18978556;18981233;1898771;18991276;18992959;19010870;19054389;19063875;19092055;19096299;19138696;19140243;19159218;19172738;19185485;19201048;19208840;19238632;19279408;19287005;19296720;19318566;19381876;1939237;19411071;19413330;19458185;19491268;19509246;19509291;19531499;19536138;19543508;19560417;19563658;19563760;19575674;19576174;19603039;19636371;19644473;19650855;19651622;1968060;19682613;19692684;19696796;19696798;19713939;19718021;19726454;1973074;19732400;19749156;19759520;19776351;19805105;19809571;19814798;19836242;19843847;19853559;19879889;1988448;19920141;19933325;19961825;19962665;20033049;20033059;20058876;20059951;20068085;20068231;20128819;20131498;20166139;20207772;20211604;2022652;20231295;20231386;20236686;20338997;20351096;20409020;20421816;20428113;20439495;20448150;20462955;20471394;20478380;20522708;20530710;20551055;20552223;20581866;20650261;20674546;20678850;20705455;20713702;20805561;20826345;20837704;20859697;20861220;20877636;20937854;20946875;20966921;21062933;21102408;21102635;21135146;2115402;21167064;21172876;21187331;21188471;21220318;21233402;21248300;21252721;21258366;21278753;21300759;21316588;21317208;21368164;21372320;21376233;21409490;21411993;21422421;21444121;21445324;21457545;21469767;21478295;21482805;21482987;21487020;21499258;21516087;21518597;21518868;2153914;21575212;21592614;21613550;21615826;21635547;21668414;21680538;21690215;21725039;21732342;21749319;21779028;21779497;21779505;21796416;21827948;21840311;21841790;21849859;21851428;21863770;21883765;21896992;21917678;21921847;21927000;21927001;21932426;21953013;21962517;21976531;21976538;21984976;21993244;21995445;22028449;22031296;22046346;22052230;22099461;22118466;22120714;22174689;22177953;22178131;22179831;22188813;22192147;22215752;22231447;22233676;22252115;22266855;22298428;22321154;22321543;22339342;22357968;22366308;22446104;22450744;22484487;22505844;22525557;22559222;22569528;2257624;22588155;22588880;22589270;22591345;22613337;22670114;22703031;22740981;22750304;22802530;22815487;22826471;22836289;22848293;22858448;22858585;22863004;22885469;22888118;22891040;22899358;22908275;22942912;2295682;23026641;23045273;23090970;23103841;23139670;23157744;23185274;23186163;23220880;23254288;23255934;23261144;23266614;23297414;23302304;23303910;23327870;23334091;23357969;23371856;23380224;23403410;23418353;23426935;23443682;23465272;23466741;23491080;23507602;23518631;23527257;23536704;23575685;23578570;23589287;23626956;23684889;23686837;23721103;23723255;23769436;23774213;23823722;23825523;23843458;23844533;23846654;23852459;23861397;23864842;23883584;23886554;23891661;23912460;23937717;23948973;23954936;23956990;23974272;23986053;23988622;24025416;24039841;24040454;24053674;24065731;24103528;24105277;24130457;24186068;24190977;24200637;24223798;24251405;24275569;24297623;24351833;24384571;24388704;24389444;24396447;24406864;24412618;24419415;24419753;24457318;24493829;24530924;24575772;24581490;24623981;24631288;24675505;24680432;24691054;2472219;24729716;24736066;24737599;24746795;24768581;24789511;24789720;24789820;24797263;24835218;24842519;24842595;24842903;24857785;24868098;24893891;24894453;24897931;24934779;24935154;24937142;24966051;24971884;24992895;25009007;25034225;25057940;25074459;25081058;25107275;25125655;25134330;25168820;25176975;25187647;25219551;25222496;25227801;25263444;25271963;25286755;25296354;25303366;25311788;25317990;25338771;25341920;25349236;25355724;25356737;25368326;25375092;25382705;25405807;25427151;2543678;2543683;25450875;25498243;25506224;25521405;25525358;25532027;25560642;25562322;25564053;25576301;25582278;25587652;25629371;25645385;25662406;25667490;25668120;25668228;25682017;25687872;25695284;25714021;25722667;25726043;25766256;25772240;25781681;25789532;25806291;25823662;25831463;25842367;25853726;25862854;25882755;25886900;25922362;25923549;25923550;25949874;25960661;25994018;26041721;26042225;26051236;26052929;26085527;26094656;26108188;26124670;26152224;26160838;26187428;26216968;26235419;26267891;26274523;26279144;26282169;26295376;26302343;26308378;26334838;26336854;26338423;26339441;26370161;26370283;26375550;26396685;26403691;26459174;26475093;26490356;26545934;26572169;26572645;26577492;26609535;26622666;26629323;26629426;26689995;26700910;26718140;26746366;26749488;26751287;26785607;26811313;26829388;26832794;26867973;26882288;26911477;26918609;26921391;26933421;26933807;26943236;26968843;26973206;26988023;26988828;26999786;27039821;27044261;27071706;27131295;27131639;27145431;27153536;27177916;27188206;27217441;27221040;27259997;27270313;27279914;27281561;27281782;27288742;27330954;27357069;27384480;27384992;27385982;27432364;27448564;27468240;27468867;27473086;27478319;27478396;27486808;27501258;27508108;27523899;27528220;27538584;27542267;27549314;27557932;27573423;27580550;27601920;27619632;27622074;27643705;27646888;27655904;27685950;27703488;27751847;27776352;27784815;27794398;27811976;27821131;27821604;27827863;27846572;27875527;27885838;27895763;27905549;2790960;27910964;27913578;27923840;27959700;27999211;28002980;28012964;28024692;28031840;2803273;28107191;28149837;28173668;28188446;28188670;28210132;28221867;28243590;28244453;28245430;28274743;28274957;28293073;28341106;28352186;28357677;28367058;28367239;28388009;28391354;28393721;28407039;28415052;28416261;28419328;28422737;28428148;28433077;28449447;28476851;28479384;28479857;28486985;28510447;28528303;28539435;28572531;28577949;28577956;28596108;28599456;28606923;28607578;28611939;28622427;28623122;28625653;28676213;28699260;28723866;28724430;28747773;28778966;28781659;28786540;28789446;28789464;28794368;28819384;28826599;28827701;28838714;28839001;28843359;28848674;28870636;28873083;28874593;28879074;28881618;28884371;28891468;28899783;2890644;28920960;28932544;28945865;28982744;29074208;29074213;29110841;29136465;29173769;29173773;29178024;29191595;29192674;29199706;29237092;29238696;29242281;29245913;29246024;29285395;29290257;29291705;29292704;29292707;29292708;29292710;29312580;29329944;29332537;29353978;29355391;29362963;29363250;29365415;29391424;29393480;29396253;29398453;29403309;29404300;29423594;29425614;29427996;29446042;29462256;29480364;29496249;29502892;29530932;29532998;29535126;29540602;29545967;29556515;29557506;29571986;29581791;29618075;29620164;29620244;29660315;29673089;29695402;29695735;29703542;29705137;29719623;29720004;29731638;29732058;29738483;29741879;29761660;29766737;29789021;29789542;29793651;29799327;29802988;2984676;29848711;29850136;2985580;29858027;29861396;29879078;2987962;29909007;2991899;29922072;29927769;29938870;29963252;29967253;29972716;29977749;30059200;30301790;30314968;30352854;30360396;3039909;30431376;30449325;30484775;30601871;30615629;30761409;30854046;30925736;30962710;31075398;31135801;3138233;31460159;31492560;31492838;31537844;31725811;31844290;32157095;32236612;32245944;32387766;32512509;32938616;33214551;3329716;33328764;33437477;33465208;33592498;33968037;33981976;33996800;34019948;34086370;34155348;34171305;3417785;34283639;34295309;34424763;35051231;35154160;35289036;35494241;35538033;35580925;36010968;36215666;36241641;36284347;37074911;38665916;39073202;39414598;39419238;39456084;39534244;40367522;6093780;6146630;6148751;6324343;6325948;6326261;6328312;6330563;7478576;7518560;7526779;7527043;7535773;7541030;7542744;7556068;7565730;7569928;7588619;7637810;7654368;7657591;7679104;7685104;7693694;7744773;7750475;7797556;7809086;7822302;7877694;7889942;7891714;7929212;7929214;7935463;7970720;7972015;7993895;8026468;8034616;8036006;8052307;8101647;8144591;8360196;8386592;8388392;8394845;8479541;8493579;8509458;8524399;8530489;8530511;8552632;8553074;8592152;8617201;8617750;8621392;8621719;8622888;8635462;8639530;8645157;8650580;8657148;8665852;8665853;8710374;8782602;8837779;8845374;8876252;8895516;8918811;8939933;8940013;8940074;8962717;9042862;9092476;9100026;9103388;9108479;9135143;9153411;9162057;9168115;9169477;9173876;9182571;9199319;9232641;9264403;9275162;9303539;9356464;9363897;9395517;9396761;9419975;9427626;9428629;9448290;9461599;9488479;9544989;9556602;9556621;9565625;9604935;9616126;9635431;9687504;9723620;9733788;9736607;9736715;9812899;9850080;9852145;9890893;9895304;9927426", "class_list": "", "function": "(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins., [UniProtKB, PubMed]; Amphiregulin promotes activated regulatory T cell-suppressive function via the AREG/EGFR pathway in laryngeal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; EGFR upregulates miRNA subset to inhibit CYBRD1 and cause DDP resistance in gastric cancer., [RefSeq, PubMed]; Isoform 2 may act as an antagonist of EGF action., [UniProtKB]; Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:10805725, PubMed:27153536, PubMed:2790960, PubMed:35538033). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF (PubMed:12297049, PubMed:15611079, PubMed:17909029, PubMed:20837704, PubMed:27153536, PubMed:2790960, PubMed:7679104, PubMed:8144591, PubMed:9419975). Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates at least 4 major downstream signaling cascades including the RAS-RAF-MEK-ERK, PI3 kinase-AKT, PLCgamma-PKC and STATs modules (PubMed:27153536). May also activate the NF-kappa-B signaling cascade (PubMed:11116146). Also directly phosphorylates other proteins like RGS16, activating its GTPase activity and probably coupling the EGF receptor signaling to the G protein-coupled receptor signaling (PubMed:11602604). Also phosphorylates MUC1 and increases its interaction with SRC and CTNNB1/beta-catenin (PubMed:11483589). Positively regulates cell migration via interaction with CCDC88A/GIV which retains EGFR at the cell membrane following ligand stimulation, promoting EGFR signaling which triggers cell migration (PubMed:20462955). Plays a role in enhancing learning and memory performance (By similarity). Plays a role in mammalian pain signaling (long-lasting hypersensitivity) (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor, thus inducing receptor dimerization and tyrosine autophosphorylation leading to cell proliferation. Mutations in this gene are associated with lung cancer. EGFR is a component of the cytokine storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulting from infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). [provided by RefSeq, Jul 2020]., [RefSeq]; [TRAF4 promotes lung cancer development by activating tyrosine kinase of EGFR]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 13, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 18, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 19, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 20, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 43, "reported_phosphosites": 87, "reported_mutagensis": 39, "reported_glycation": 0, "reported_snv": 309, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 149, "disease_count": 51, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "O00688;O00732;P06268;Q14225;Q68GS5;Q92795;Q9BZS2;Q9GZX1;Q9H2C9;Q9H3C9;Q9UMD7;Q9UMD8;Q9UMG5", "ec_number_list": "2.7.1.153;2.7.1.137;2.7.1.154;2.7.12.2;2.7.11.1;2.7.10.1;2.7.10.2;2.7.12.1;3.1.3.-;1.2.1.36;1.2.1.19;1.2.1.3;1.2.1.28;3.6.5.2;3.6.4.10;3.4.24.11;5.6.1.6;2.7.1.40;3.1.3.48;3.1.4.11;2.3.2.27;2.7.1.32;2.7.1.82;2.7.10.4;3.6.5.5;3.6.4.-;3.1.3.16;3.2.2.6;3.1.3.86;3.1.3.56;3.1.3.36;2.7.11.13;2.7.11.17;2.7.11.23;3.6.5.-", "go_molecular_function": "GO:0003682 chromatin binding;GO:0004713 protein tyrosine kinase activity;GO:0004888 transmembrane signaling receptor activity;GO:0005524 ATP binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0097708 intracellular vesicle;GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0007611 learning or memory;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 155.8, "record_id": "P00533-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P27797-1", "uniprot_id": "CALR_HUMAN", "mass": 48142.0, "length": 417, "protein_name": "Calreticulin", "gene_name": "CALR", "organism": "Human", "refseq_name": "calreticulin precursor", "refseq_ac": "NP_004334", "gene_names_uniprotkb": "CALR; CRTC", "gene_names_refseq": "CALR1; CALR; CRT; HEL-S-99n; RO; SSA; cC1qR", "protein_names_uniprotkb": "Calreticulin; CRP55; Calregulin; ERp60; Endoplasmic reticulum resident protein 60; HACBP; grp60", "protein_names_refseq": "CRP55; ERp60; HACBP; Sicca syndrome antigen A (autoantigen Ro; calregulin; calreticulin precursor; calreticulin); endoplasmic reticulum resident protein 60; epididymis secretory sperm binding protein Li 99n; grp60", "tax_id": 9606, "disease": "vitamin B12 deficiency (Disease Ontology:DOID:0050731); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); stomach cancer (Disease Ontology:DOID:10534); lung cancer (Disease Ontology:DOID:1324); Parkinson's disease (Disease Ontology:DOID:14330); colon carcinoma (Disease Ontology:DOID:1520); neuroendocrine tumor (Disease Ontology:DOID:169); colon cancer (Disease Ontology:DOID:219); essential thrombocythemia (Disease Ontology:DOID:2224); thrombocytosis (Disease Ontology:DOID:2228); ovarian cancer (Disease Ontology:DOID:2394); gallbladder cancer (Disease Ontology:DOID:3121); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); myelofibrosis (Disease Ontology:DOID:4971); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); Burkitt lymphoma (Disease Ontology:DOID:8584); sideroblastic anemia (Disease Ontology:DOID:8955); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261)", "pathway": " (hsa:811); (R-HSA-1236974); (R-HSA-168316); (R-HSA-3000480); (R-HSA-3000484); (R-HSA-381183); (R-HSA-901042); (R-HSA-983170); (R-HSA-9918432)", "pathway_count": 9, "publication_count": 284, "publication_id_list": "10.1074/mcp.M114.046862;10064069;10224290;10228156;10358038;10600378;10605026;10651831;10686426;10722588;10764645;10777614;10825291;10929008;10958673;10982397;11149926;11160214;11163199;11237011;11322874;11514579;11564734;11820786;12436109;12436110;12488451;12535523;12645939;12761161;12763022;12847263;1286667;1286669;1339697;14609958;14624761;14681859;14718384;14973138;14978097;15057824;15286279;15371419;15489334;15927284;16034111;16237101;16408927;16465444;16473882;16525990;16882874;16926412;16940051;16984918;17056546;17088086;17179669;17316621;17332894;1733953;17507649;17615582;17656363;17709607;18078691;18512783;1852209;18637103;18692471;18802091;18991276;19054851;19073604;1911778;19119025;19154346;19159218;1919005;19193869;19217269;19227971;19237602;19261456;19342655;19361863;19426129;19575639;19608861;19696406;19851281;19911804;20360967;2038058;20605430;20686127;20801878;20810988;20849212;20888598;20956340;21050182;21081667;21269460;21423620;21654843;21782039;22153078;22299025;2251254;22570530;22898188;22905912;2318890;23197261;2332496;23555621;23613522;23614004;23719902;23739916;2377606;2400400;24190977;24275569;24325356;24325359;24397554;2450918;24715725;2477002;25083866;25502872;25576301;25645385;25813380;25944712;26154972;26208004;26375851;26768311;26853435;26992070;27090790;27383988;27452731;27600516;27622074;27840680;27862975;28218747;28228285;28228593;28467828;28649982;28832583;28834231;28855257;28904123;29192674;29242379;29314611;29317506;29351928;29493099;29508533;29557506;29605689;29632046;29632711;29741879;29774024;29786170;29789417;30157172;30429286;30444036;30524438;30573663;30779550;30833945;31154438;31217245;31222486;31530632;31611695;31844290;31848261;32119511;32157095;32161166;32162841;32350084;32357974;32387766;32411667;32488085;32502341;3260607;32897882;32938616;32983136;33043033;33091337;33141586;33214551;33392160;33592498;33912179;33936100;33968037;33981976;34019948;34073978;34078123;34165774;34171305;34211107;34300032;34357683;34433824;34449535;34542973;34638846;3467373;34725712;34931806;34932366;35051231;35154160;35215835;35251023;35318648;35459695;35561310;35580925;36010968;36215666;36241641;36284347;36602069;37074911;37217939;37938771;38385070;38665916;38766853;38793607;38853260;39004325;39337361;39354146;40307207;40596516;40914422;6088540;6255257;7607209;7638864;7642652;7836063;7841019;7876241;7876246;8102790;8127896;8342042;8418194;8429030;8666824;8751442;8784195;9150948;9225214;9395444;9427624;9465098;9468508;9511720;9548586;9605141;9640257;9837962", "class_list": "glycogene", "function": "Calcium-binding chaperone that promotes folding, oligomeric assembly and quality control in the endoplasmic reticulum (ER) via the calreticulin/calnexin cycle. This lectin interacts transiently with almost all of the monoglucosylated glycoproteins that are synthesized in the ER (PubMed:7876246). Interacts with the DNA-binding domain of NR3C1 and mediates its nuclear export (PubMed:11149926). Involved in maternal gene expression regulation. May participate in oocyte maturation via the regulation of calcium homeostasis (By similarity). Present in the cortical granules of non-activated oocytes, is exocytosed during the cortical reaction in response to oocyte activation and might participate in the block to polyspermy (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB]; Calreticulin is a highly conserved chaperone protein which resides primarily in the endoplasmic reticulum, and is involved in a variety of cellular processes, among them, cell adhesion. Additionally, it functions in protein folding quality control and calcium homeostasis. Calreticulin is also found in the nucleus, suggesting that it may have a role in transcription regulation. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin. Recurrent mutations in calreticulin have been linked to various neoplasms, including the myeloproliferative type.[provided by RefSeq, May 2020]., [RefSeq]; Calreticulin regulates the expression of MMP14 and ADAR1 through EIF2AK2 signaling to promote the proliferation and progression of malignant melanoma cells., [RefSeq, PubMed]; CircATF6 inhibits hepatocellular carcinoma progression by suppressing calreticulin-mediated Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1. Erratum:[Commun Biol. 2025 Oct 4;8(1):1424. doi: 10.1038/s42003-025-08894-z. PMID: 41046265] Publication Status: Online-Only, [RefSeq, PubMed]; Neutrophil-specific expression of JAK2-V617F or CALRmut induces distinct inflammatory profiles in myeloproliferative neoplasia. Publication Status: Online-Only, [RefSeq, PubMed]; The Role of Mutated Calreticulin in the Pathogenesis of BCR-ABL1-Negative Myeloproliferative Neoplasms. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 543, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 39, "disease_count": 25, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q6IAT4;Q9UDG2", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005178 integrin binding;GO:0005506 iron ion binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005635 nuclear envelope", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0045665 negative regulation of neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 32.9, "record_id": "P27797-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04626-1", "uniprot_id": "ERBB2_HUMAN", "mass": 137910.0, "length": 1255, "protein_name": "Receptor tyrosine-protein kinase erbB-2", "gene_name": "ERBB2", "organism": "Human", "refseq_name": "receptor tyrosine-protein kinase erbB-2 isoform b", "refseq_ac": "NP_001005862", "gene_names_uniprotkb": "ERBB2; HER2; MLN19; NEU; NGL", "gene_names_refseq": "CD340; ERBB2; HER-2/neu; HER-2; HER2; MLN 19; MLN-19; NEU; NGL; TKR1; VSCN2; c-ERB-2; c-ERB2; p185(erbB2)", "protein_names_uniprotkb": "Receptor tyrosine-protein kinase erbB-2; 2.7.10.1; MLN 19; Metastatic lymph node gene 19 protein; Proto-oncogene Neu; Proto-oncogene c-ErbB-2; Tyrosine kinase-type cell surface receptor HER2; p185erbB2", "protein_names_refseq": "c-erb B2/neu protein; herstatin; human epidermal growth factor receptor 2; metastatic lymph node gene 19 protein; neuroblastoma/glioblastoma derived oncogene homolog; proto-oncogene Neu; proto-oncogene c-ErbB-2; receptor tyrosine-protein kinase erbB-2 isoform b; receptor tyrosine-protein kinase erbB-2; tyrosine kinase-type cell surface receptor HER2; v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2; v-erb-b2 avian erythroblastic leukemia viral oncoprotein 2; v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); ductal carcinoma in situ (Disease Ontology:DOID:0060074); intestinal cancer (Disease Ontology:DOID:10155); prostate cancer (Disease Ontology:DOID:10283); amblyopia (Disease Ontology:DOID:10376); Hirschsprung's disease (Disease Ontology:DOID:10487); stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591); urinary bladder cancer (Disease Ontology:DOID:11054); dilated cardiomyopathy (Disease Ontology:DOID:12930); HELLP syndrome (Disease Ontology:DOID:13133); lung cancer (Disease Ontology:DOID:1324); interstitial cystitis (Disease Ontology:DOID:13949); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); calcinosis (Disease Ontology:DOID:182); nephroblastoma (Disease Ontology:DOID:2154); ovarian cancer (Disease Ontology:DOID:2394); transitional cell carcinoma (Disease Ontology:DOID:2671); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); carcinoma (Disease Ontology:DOID:305); high grade glioma (Disease Ontology:DOID:3070); mammary Paget's disease (Disease Ontology:DOID:3443); invasive lobular carcinoma (Disease Ontology:DOID:3457); lung adenocarcinoma (Disease Ontology:DOID:3910); renal cell carcinoma (Disease Ontology:DOID:4450); stomach carcinoma (Disease Ontology:DOID:5517); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); median neuropathy (Disease Ontology:DOID:571); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); visceral neuropathy, familial, 2, autosomal recessive (MONDO:MONDO:0030399)", "pathway": " (hsa:2064); (R-HSA-1227986); (R-HSA-1250196); (R-HSA-1251932); (R-HSA-1257604); (R-HSA-1306955); (R-HSA-1358803); (R-HSA-1963640); (R-HSA-1963642); (R-HSA-2219530); (R-HSA-416572); (R-HSA-5673001); (R-HSA-6785631); (R-HSA-6811558); (R-HSA-8847993); (R-HSA-8863795); (R-HSA-8866910); (R-HSA-9634285); (R-HSA-9652282); (R-HSA-9664565); (R-HSA-9665233); (R-HSA-9665244); (R-HSA-9665245); (R-HSA-9665246); (R-HSA-9665247); (R-HSA-9665249); (R-HSA-9665250); (R-HSA-9665251); (R-HSA-9665348); (R-HSA-9665686); (R-HSA-9665737); (R-HSA-9927418); (R-HSA-9927432); (R-HSA-9938206)", "pathway_count": 34, "publication_count": 507, "publication_id_list": "10.1101/2023.09.13.557529;10191262;10347170;10358079;10372802;10473558;10497269;10508167;10540322;10593938;10648798;10652353;10722704;10805725;10829039;10869344;10878805;11018042;11027663;11071886;11090077;11136978;11147812;11237011;11278435;11313946;11330837;11432829;11500516;11546808;11702783;11803464;11940572;11953857;12032311;12052829;12061724;12094235;12121613;12122014;12124806;12166652;12167717;12185584;12196628;12214266;12220504;12239347;12354693;12386815;12411582;12444095;12610629;12651161;12730235;12748185;12767043;12824184;12939402;12975581;1325671;1350088;14506247;14569185;14578152;14660651;14707138;14744778;15059917;15093539;15156151;15163624;15173008;15210733;15256466;15300809;15356145;15374636;15374980;15380516;15457249;1545823;15546878;15550452;15568014;15643424;15695410;15718470;15743501;15834429;15870067;15970791;15987431;16219803;16243821;16273093;16314522;16339315;16371159;16414259;16416013;16456541;16624867;16627759;16647110;16684964;1672440;16729043;16785428;16794579;16843263;1688559;16912206;16978839;17030621;1706616;17081983;17145757;17151359;1716764;17200115;17206861;17210635;17237269;17311002;17344846;17389395;17397516;17426253;17490486;17525746;17554007;17575237;17626883;17652160;17687647;17709425;17918664;17942920;17998543;17998941;18025083;18039657;18045866;18062925;18079394;18237245;18237248;18264744;18317450;18320059;18408761;18413839;18594509;18606717;18669648;18682844;18687633;18691976;18700973;18719096;18721072;18721752;18754654;18755892;18775330;18781152;18799465;18829560;18837888;18925875;18945363;18955552;18978815;1898771;19055823;19082476;19094209;19185485;19228530;19239686;19279408;19289058;19299620;19318566;19372587;19411071;19491269;19531498;19576174;19644473;19664994;1973074;19754954;19760502;19805105;19843847;19860576;19920141;19933325;19962665;20010870;20068231;20145185;20201928;2022652;20231295;20332114;20338997;20380571;20386540;20401632;20466887;20478380;20522708;20581866;20696930;20713702;20818175;20937854;21034468;21097718;21102635;21188471;21190959;21209853;21317208;21364123;21368164;21372320;21376233;21406692;21454582;21474413;21478295;21499296;21555369;21668414;21712485;21779497;21779505;21791570;21827948;21840311;21953075;21966491;21976531;21984976;21993244;22046346;22120714;22188813;22549178;22561705;22569528;22588880;22589270;22676470;22750304;22802530;22892392;22908275;22984286;23027125;23086302;23090970;23103841;23186163;23212450;23220880;23254288;23303910;23318431;23443682;23487505;23575685;23594562;23637823;23684889;23749689;23843458;23844533;23846654;23900832;23948973;24120493;24154794;24190977;24263233;24275569;24278211;24608202;24722188;24801752;24810047;24835103;24835218;24897931;24937142;24958351;24971884;25003657;25081058;25085898;25193864;25219551;25344208;25346782;25395422;25418920;2543678;25520082;25562322;25576301;25596742;25620423;2566907;25686822;25772240;25773930;25781681;25791067;25792810;25853726;25889497;25949874;25994018;26085527;26114632;26143491;26308378;26375550;26439378;26490994;26517842;26545934;26602294;26625311;26666819;26676300;26762307;26832794;26892612;26985398;27050377;27134172;27345410;27356767;27397612;27416801;27469139;27484900;27531070;27589688;27622033;27665021;27788409;27826664;27891225;27903463;28229982;28243327;28274957;28348404;28459445;28529593;28632938;28633645;28639750;28778966;28808311;28903399;28915606;28947957;29050229;29331515;29348142;29417620;29476019;29490608;29491709;29557506;29561699;2966156;29741879;29743533;29786170;29790264;2992089;2995967;29967253;2999974;3003577;30057418;30237853;30301790;30314968;3039351;30418433;30449325;30459171;30779550;30833945;30854046;30884851;30967373;31135801;31138794;31143180;31492560;31530632;31591824;31635022;31650023;31831814;31844290;31848261;32117718;32157095;32381043;32387766;32584853;32640677;32707803;32815546;32938616;33037285;33091337;33116268;33497358;33592498;33968037;34171305;34380438;34480368;34782741;34958275;35051231;35318648;35580925;35637411;36010968;36228153;36230782;36241641;36284347;36768214;36949068;36983028;37074911;37093223;37376412;3839510;39067134;39205824;39270365;39313574;6148751;7478576;7541030;7542744;7556068;7624146;7637810;7744773;7809086;7891714;7929212;7929214;7935463;7970720;7972015;8026468;8036006;8052307;8095488;8101647;8104414;8394845;8493579;8530511;8617201;8617750;8622888;8645157;8657148;8665852;8665853;8700533;8702756;8710374;8895516;8939933;8940074;9079677;9162057;9182571;9232641;9334404;9461599;9516479;9604935;9687504;9736715;9850080;9895304;9927426", "class_list": "", "function": "A Comparison of Immunohistochemical Expression of Epidermal Growth Factor Receptor and Human Epidermal Growth Factor Receptor 2 in Dental Follicles with Different Radiographic Sizes. Publication Status: Online-Only, [RefSeq, PubMed]; A susceptibility gene signature for ERBB2-driven mammary tumour development and metastasis in collaborative cross mice., [RefSeq, PubMed]; In the nucleus is involved in transcriptional regulation. Associates with the 5'-TCAAATTC-3' sequence in the PTGS2/COX-2 promoter and activates its transcription. Implicated in transcriptional activation of CDKN1A; the function involves STAT3 and SRC. Involved in the transcription of rRNA genes by RNA Pol I and enhances protein synthesis and cell growth., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. GP30 is a potential ligand for this receptor. Regulates outgrowth and stabilization of peripheral microtubules (MTs). Upon ERBB2 activation, the MEMO1-RHOA-DIAPH1 signaling pathway elicits the phosphorylation and thus the inhibition of GSK3B at cell membrane. This prevents the phosphorylation of APC and CLASP2, allowing its association with the cell membrane. In turn, membrane-bound APC allows the localization of MACF1 to the cell membrane, which is required for microtubule capture and stabilization., [UniProtKB]; SON is an essential RNA splicing factor promoting ErbB2 and ErbB3 expression in breast cancer., [RefSeq, PubMed]; Targeting HER2 in solid tumors: Unveiling the structure and novel epitopes. Review article, [RefSeq, PubMed]; This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [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": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "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": 2, "reported_phosphosites": 38, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 182, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 29, "disease_count": 35, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B2RZG3;B4DHN3;Q14256;Q6LDV1;Q9UMK4;X5D2V5", "ec_number_list": "2.7.1.153;2.7.1.137;2.7.12.2;2.7.10.1;2.7.10.2;2.7.11.1;2.7.12.1;1.2.1.36;1.2.1.19;1.2.1.3;1.2.1.28;3.6.5.2;3.6.4.10;3.4.24.11;2.7.1.40;3.1.3.48;3.1.4.11;2.7.1.32;2.7.1.82;2.7.10.4;2.7.1.154;3.6.4.-;3.2.2.6;2.7.11.13;2.7.11.17;2.7.11.23;2.3.2.27", "go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0004888 transmembrane signaling receptor activity;GO:0005102 signaling receptor binding;GO:0005524 ATP binding;GO:0015026 coreceptor activity", "go_cellular_component": "GO:0002116 semaphorin receptor complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway", "synthesized_glycan_count": 0, "hit_score": 54.6, "record_id": "P04626-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92529-1", "uniprot_id": "SHC3_HUMAN", "mass": 64056.0, "length": 594, "protein_name": "SHC-transforming protein 3", "gene_name": "SHC3", "organism": "Human", "refseq_name": "SHC-transforming protein 3", "refseq_ac": "NP_058544", "gene_names_uniprotkb": "SHC3; NSHC; SHCC", "gene_names_refseq": "N-Shc; NSHC; RAI; SHC3; SHCC", "protein_names_uniprotkb": "SHC-transforming protein 3; N-Shc; Neuronal Shc; Protein Rai; SH2 domain protein C3; SHC-transforming protein C; Src homology 2 domain-containing-transforming protein C3", "protein_names_refseq": "SH2 domain protein C3; SHC (Src homology 2 domain containing) transforming protein 3; SHC-transforming protein 3; SHC-transforming protein C; Shc3 p51; neuronal Shc; protein Rai; src homology 2 domain-containing transforming protein C3", "tax_id": 9606, "disease": "", "pathway": " (hsa:53358); (R-HSA-167044); (R-HSA-5673001); (R-HSA-8853659)", "pathway_count": 4, "publication_count": 105, "publication_id_list": "10448070;10508167;10869344;10995764;11000521;11002419;11027663;11090077;11136978;11237011;11237712;11313946;11360177;11390647;11470823;11491658;11546808;11702783;11886862;12006576;12032311;12094235;12121613;12242309;12771945;14506247;14707138;14766744;15044950;15286081;15356145;1545823;15546878;15569713;16627759;16684964;1716764;17998941;18775330;1898771;19279408;19920141;20478380;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23303910;23443682;23575685;24715725;24897931;24937142;25219551;25781681;26085527;28778966;29330146;29485866;29557506;30429286;31135801;31154438;31844290;31848261;31944299;33592498;35051231;35580925;36880347;37938771;6148751;7665556;7809086;7935463;7972015;8052307;8394845;8493579;8628282;8631863;8637703;8662982;8663426;8665852;8674117;8710374;8760305;8808684;8810325;8939933;9047384;9192684;9299438;9407096;9491986;9604935;9764818;9883723;9927426", "class_list": "", "function": "Our results indicate the importance of Shc3 in HCC progression and identify Shc3 as a novel biomarker and potential therapeutic target in HCC.Significance: Ectopic expression of Shc3 forms a complex with MVP/MEK/ERK to potentiate ERK activation and plays an important role in sorafinib resistance in HCC., [RefSeq, PubMed]; Shc3 facilitates breast cancer drug resistance by interacting with ErbB2 to initiate ErbB2/COX2/MDR1 axis., [RefSeq, PubMed]; Signaling adapter that couples activated growth factor receptors to signaling pathway in neurons. Involved in the signal transduction pathways of neurotrophin-activated Trk receptors in cortical neurons., [UniProtKB]; The Shc protein Rai enhances T-cell survival under hypoxia., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5T7I7;Q8TAP2;Q9UCX5", "ec_number_list": "", "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0030971 receptor tyrosine kinase binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0035556 intracellular signal transduction;GO:0007417 central nervous system development;GO:0007173 epidermal growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q92529-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P03897-1", "uniprot_id": "NU3M_HUMAN", "mass": 13186.0, "length": 115, "protein_name": "NADH-ubiquinone oxidoreductase chain 3", "gene_name": "MT-ND3", "organism": "Human", "refseq_name": "NADH dehydrogenase subunit 3", "refseq_ac": "YP_003024033", "gene_names_uniprotkb": "MT-ND3; MTND3; NADH3; ND3", "gene_names_refseq": "MTND3; ND3", "protein_names_uniprotkb": "NADH-ubiquinone oxidoreductase chain 3; 7.1.1.2; NADH dehydrogenase subunit 3", "protein_names_refseq": "NADH dehydrogenase subunit 3", "tax_id": 9606, "disease": "mitochondrial type mitochondrial complex I deficiency 1 (Disease Ontology:DOID:0112101); Huntington's disease (Disease Ontology:DOID:12858); Parkinson's disease (Disease Ontology:DOID:14330); hypothyroidism (Disease Ontology:DOID:1459); Leigh disease (Disease Ontology:DOID:3652); Leber hereditary optic neuropathy (Disease Ontology:DOID:705)", "pathway": " (hsa:4537); (R-HSA-5419276); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 4, "publication_count": 69, "publication_id_list": "10327278;11130070;11220739;11456298;11695836;12231006;12611891;12837546;12840039;12949126;1327877;14705112;14741580;14760490;15250827;16230336;17033964;17152068;1757091;17803939;17936786;18429816;186667;18782833;19716793;19752196;20186120;20406883;20552642;20818383;20858599;21924235;22172991;23150584;23270816;23553477;23564345;23747254;239860;24191001;25118196;25233460;25564869;25678554;27499296;27626371;28510447;31666358;31866046;32320651;32357974;33717175;33879611;33882309;34171305;35289036;35333655;35614220;36302763;36596788;37141370;38199007;3921850;40596516;4288886;6343397;7219534;9571201;9878551", "class_list": "", "function": "Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:25118196). Essential for the catalytic activity of complex I (PubMed:25118196)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "7.1.1.2;7.1.1.9;3.6.5.-;3.1.1.29;2.1.1.-;1.-.-.-;2.1.1.320;1.3.8.7;1.3.8.8", "go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0071385 cellular response to glucocorticoid stimulus;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009642 response to light intensity", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P03897-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P39060-3", "uniprot_id": "COIA1_HUMAN", "mass": 178188.0, "length": 1754, "protein_name": "Collagen alpha-1(XVIII) chain", "gene_name": "COL18A1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "COL18A1", "gene_names_refseq": "", "protein_names_uniprotkb": "Collagen alpha-1(XVIII) chain", "protein_names_refseq": "", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); pigment dispersion syndrome (Disease Ontology:DOID:0060680); gastric ulcer (Disease Ontology:DOID:10808); dilated cardiomyopathy (Disease Ontology:DOID:12930); primary angle-closure glaucoma (Disease Ontology:DOID:1405); myopathy (Disease Ontology:DOID:423); hepatocellular carcinoma (Disease Ontology:DOID:684); mitochondrial myopathy (Disease Ontology:DOID:699); ulcerative colitis (Disease Ontology:DOID:8577); amino acid metabolic disorder (Disease Ontology:DOID:9252); hereditary glaucoma, primary closed-angle (MONDO:MONDO:0030038); Knobloch syndrome 1 (MONDO:MONDO:0800167)", "pathway": " (hsa:80781); (R-HSA-1442490); (R-HSA-1592389); (R-HSA-1650814); (R-HSA-2022090); (R-HSA-216083); (R-HSA-3000157); (R-HSA-8948216)", "pathway_count": 8, "publication_count": 244, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10049780;10209034;10366422;10438935;10441114;10479448;10543983;10551873;10593924;10596943;10605720;10626789;10640428;10673366;10713152;10809722;10811134;10934207;10942434;10966814;10982388;11013208;11054877;11119712;11158588;11257123;11517600;11518510;11572855;11577169;11606364;11713259;11830519;11927537;11964076;11980922;12237301;12473679;12475640;12482924;12496264;12579531;12585966;12646579;12682293;12807887;1311314;1323838;1371271;1390635;1400327;14500733;14602708;14614989;14695535;1480033;15005656;15044469;15240572;15257288;15265795;15330449;15345499;15383545;15713743;1577494;15837520;1588291;15899827;15950618;16002701;16051604;16239428;16413178;16581764;16591531;16731529;16754661;16825197;16933105;1704217;17088321;171650;17339034;17644065;1783204;17968485;18487197;18622425;18710925;18775695;18987736;19075007;19502598;19693541;20033473;2005102;2010551;20470363;20705068;21593211;2159879;2169257;2169335;2176865;21878990;21935455;21967573;22241472;22382088;22493504;2253219;22539938;2269296;22884367;2307289;23374253;23584533;23667181;2383557;24275569;2537292;2543975;2546891;2548603;2551898;25576301;2557753;25645385;26375851;26758079;26992070;27452731;27862975;2834383;2845110;29351928;29393594;29557506;29741879;29786170;30007336;3038863;30418433;30459171;30484775;30524438;3058116;30833945;31154438;31217245;31611695;3173483;31844290;32161166;3223920;32337544;32350084;32387766;32502341;32938616;32983136;33592498;33968037;33981976;34019948;34087483;34171305;34509645;35051231;35251023;36241641;37074911;38665916;3905801;3938630;39534244;3997977;4216367;6258630;6263256;6270089;6307276;6694361;6809411;710450;7505120;7525578;7541634;7542249;7559467;7669817;7685013;7746327;7780967;7826345;7890645;7890717;7896811;7981201;8015608;8118028;8188291;8194591;8207089;8314771;8344274;8463259;8530478;8560266;8576151;8621565;8645182;8663255;8798654;8804434;8838667;8910476;8920930;8999957;9008168;9054364;9092507;9245798;9251239;9261109;9346290;9422744;9443892;9459295;9503365;9545296;9560306;9565552;9578462;9582318;9632662;9645947;9651395;9724722;9856810;9858236", "class_list": "", "function": "May regulate extracellular matrix-dependent motility and morphogenesis of endothelial and non-endothelial cells; the function requires homotrimerization and implicates MAPK signaling., [UniProtKB, PubMed]; Potently inhibits endothelial cell proliferation and angiogenesis (PubMed:9459295). May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling (By similarity). Inhibits VEGFA-induced endothelial cell proliferation and migration. Seems to inhibit VEGFA-mediated signaling by blocking the interaction of VEGFA to its receptor KDR/VEGFR2. Modulates endothelial cell migration in an integrin-dependent manner implicating integrin ITGA5:ITGB1 and to a lesser extent ITGAV:ITGB3 and ITGAV:ITGB5 (By similarity). May negatively regulate the activity of homotrimeric non-collagenous domain 1 (PubMed:11257123)., [UniProtKB, UniProtKB, PubMed, PubMed]; Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube., [UniProtKB, 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": 2, "reported_o_glycosites": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 32, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 33, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 33, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 62, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 21, "disease_count": 12, "glyco_site_count": 39, "binding_glycan_count": 0, "secondary_ac_list": "A8MVI4;Q58EX6;Q6RZ39;Q6RZ40;Q6RZ41;Q8N4S4;Q8WXI5;Q96T70;Q9UK38;Q9Y6Q7;Q9Y6Q8", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0008285 negative regulation of cell population proliferation;GO:0030198 extracellular matrix organization;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 30.1, "record_id": "P39060-3", "record_type": "protein" }, { "uniprot_canonical_ac": "P07196-1", "uniprot_id": "NFL_HUMAN", "mass": 61517.0, "length": 543, "protein_name": "Neurofilament light polypeptide", "gene_name": "NEFL", "organism": "Human", "refseq_name": "neurofilament light polypeptide", "refseq_ac": "NP_006149", "gene_names_uniprotkb": "NEFL; NF68; NFL", "gene_names_refseq": "CMT1F; CMT2E; CMTDIG; NEFL; NF-L; NF68; NFL; PPP1R110", "protein_names_uniprotkb": "Neurofilament light polypeptide; 68 kDa neurofilament protein; NF-L; Neurofilament triplet L protein", "protein_names_refseq": "light molecular weight neurofilament protein; neurofilament light polypeptide; neurofilament protein, light chain; neurofilament subunit NF-L; neurofilament triplet L protein; neurofilament, light polypeptide 68kDa; protein phosphatase 1, regulatory subunit 110", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); fatal familial insomnia (Disease Ontology:DOID:0050433); stroke (Disease Ontology:DOID:0051061); Charcot-Marie-Tooth disease dominant intermediate G (Disease Ontology:DOID:0080294); COVID-19 (Disease Ontology:DOID:0080600); mild cognitive impairment (Disease Ontology:DOID:0080832); Charcot-Marie-Tooth disease type 1F (Disease Ontology:DOID:0110149); Charcot-Marie-Tooth disease type 2E (Disease Ontology:DOID:0110165); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); Alzheimer's disease (Disease Ontology:DOID:10652); sciatic neuropathy (Disease Ontology:DOID:11446); Creutzfeldt-Jakob disease (Disease Ontology:DOID:11949); Lewy body dementia (Disease Ontology:DOID:12217); Sjogren's syndrome (Disease Ontology:DOID:12894); Parkinson's disease (Disease Ontology:DOID:14330); hypothyroidism (Disease Ontology:DOID:1459); depressive disorder (Disease Ontology:DOID:1596); transient cerebral ischemia (Disease Ontology:DOID:224); multiple sclerosis (Disease Ontology:DOID:2377); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); invasive ductal carcinoma (Disease Ontology:DOID:3008); demyelinating disease (Disease Ontology:DOID:3213); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); syphilis (Disease Ontology:DOID:4166); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); acute disseminated encephalomyelitis (Disease Ontology:DOID:639); progressive multifocal leukoencephalopathy (Disease Ontology:DOID:643); vascular dementia (Disease Ontology:DOID:8725); neuromyelitis optica (Disease Ontology:DOID:8869); frontotemporal dementia (Disease Ontology:DOID:9255)", "pathway": " (hsa:4747); (R-HSA-438066); (R-HSA-442982); (R-HSA-5673001); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244)", "pathway_count": 7, "publication_count": 108, "publication_id_list": "10373510;10508167;10841809;10869344;11027663;11090077;11136978;11220745;11313946;11546808;11702783;12032311;12094235;12121613;12432080;12481988;12566280;12807427;12815021;14506247;14622581;14707138;14733962;15241803;15356145;1545823;15546878;16452125;16619203;16627759;16684964;17052987;1716764;17287340;17855605;17997397;17998941;18510355;18775330;1898771;19279408;19531498;19920141;20478380;21102635;21372320;21779497;21779505;21993244;22206013;22223895;22569528;22589270;22750304;23103841;23301498;23303910;23443682;23575685;24897931;24937142;25219551;25781681;25802885;25877835;26085527;26645395;26992070;28449373;28657654;28778966;29557506;3034332;30379171;30590034;31135801;31844290;32157095;32387766;32488085;32938616;32983136;33023150;33875374;34171305;35051231;36284347;37848414;37938771;39197554;39362930;6135695;6148751;7809086;7935463;7972015;8052307;8180132;8394845;8493579;8621664;8665852;8702840;8710374;8939933;9604935;9648857;9927426", "class_list": "", "function": "Investigation of serum neurofilament light chain as a biomarker in Fabry disease. Publication Status: Online-Only, [RefSeq, PubMed]; Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]., [RefSeq]; Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity)., [UniProtKB, UniProtKB]; Relationship between serum neurofilament light chain protein and depression: A nationwide survey and Mendelian randomization study., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 0, "mined_o_glycosites": 2, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 24, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 24, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 24, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic; diagnostic", "glycan_count": 1, "disease_count": 30, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "B9ZVN2;Q16154;Q8IU72", "ec_number_list": "", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0019904 protein domain specific binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030424 axon;GO:0030426 growth cone;GO:0031594 neuromuscular junction", "go_biological_process": "GO:0008090 retrograde axonal transport;GO:0021510 spinal cord development;GO:0021766 hippocampus development;GO:0021987 cerebral cortex development;GO:0009636 response to toxic substance", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "P07196-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15113-1", "uniprot_id": "PCOC1_HUMAN", "mass": 47972.0, "length": 449, "protein_name": "Procollagen C-endopeptidase enhancer 1", "gene_name": "PCOLCE", "organism": "Human", "refseq_name": "procollagen C-endopeptidase enhancer 1 precursor", "refseq_ac": "NP_002584", "gene_names_uniprotkb": "PCOLCE; PCPE1", "gene_names_refseq": "PCOLCE; PCPE-1; PCPE1; PCPE", "protein_names_uniprotkb": "Procollagen C-endopeptidase enhancer 1; PCPE-1; Procollagen C-proteinase enhancer 1; Procollagen COOH-terminal proteinase enhancer 1; Type 1 procollagen C-proteinase enhancer protein; Type I procollagen COOH-terminal proteinase enhancer", "protein_names_refseq": "procollagen C-endopeptidase enhancer 1 precursor; procollagen C-endopeptidase enhancer 1; procollagen C-proteinase enhancer 1; procollagen COOH-terminal proteinase enhancer 1; procollagen, type 1, COOH-terminal proteinase enhancer; type 1 procollagen C-proteinase enhancer protein; type I procollagen COOH-terminal proteinase enhancer", "tax_id": 9606, "disease": "", "pathway": " (hsa:5118); (R-HSA-1650814); (R-HSA-2243919)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "10479448;10625689;10934207;11313359;12211432;1237296;12473679;12475640;12646579;12670942;1323838;1348714;14500733;1484505;15044469;1567360;1577494;16591531;18487197;19075007;19693541;19729652;20470363;21878990;21967573;22842973;22905912;23481700;24117177;2543975;25576301;25892735;27846572;29557506;29769354;30429286;30459171;31285765;3173483;31844290;31848261;32157095;32161166;32350084;32938616;33043033;33592498;35051231;35251023;3595596;36010968;36173536;36252654;36596064;36882457;37217939;38436832;38665916;3905801;3938630;3992061;41816;5246001;5723342;6129847;6307276;641035;6809411;710450;7523404;8636146;9054364;9470928;9545296;9560306;9582318;9799793;9933570", "class_list": "", "function": "A pan-cancer analysis of the oncogenic role of procollagen C-endopeptidase enhancer (PCOLCE) in human., [RefSeq, PubMed]; Binds to the C-terminal propeptide of type I procollagen and enhances procollagen C-proteinase activity., [UniProtKB]; C-terminal processed part of PCPE (CT-PCPE) may have an metalloproteinase inhibitory activity., [UniProtKB]; Expression of procollagen C-proteinase enhancer 1 in human trabecular meshwork tissues and cells., [RefSeq, PubMed]; Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq, Jul 2008]., [RefSeq]; High expression of PCOLCE gene indicate poor prognosis in patients and are associated with immune infiltration in glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Procollagen C-proteinase enhancer-1 and renal failure in multiple myeloma., [RefSeq, PubMed]; SOX9 Promotes Collagen VI Secretion by Upregulating PCOLCE in Neurofibroma., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 2, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 2, "secondary_ac_list": "B2R9E1;O14550", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding;GO:0016504 peptidase activator activity;GO:0005518 collagen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0032964 collagen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q15113-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08138-1", "uniprot_id": "TNR16_HUMAN", "mass": 45183.0, "length": 427, "protein_name": "Tumor necrosis factor receptor superfamily member 16", "gene_name": "NGFR", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 16 precursor", "refseq_ac": "NP_002498", "gene_names_uniprotkb": "NGFR; TNFRSF16", "gene_names_refseq": "CD271; Gp80-LNGFR; NGFR; TNFRSF16; p75(NTR); p75NTR", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 16; Gp80-LNGFR; Low affinity neurotrophin receptor p75NTR; Low-affinity nerve growth factor receptor p75NGFR; Low-affinity nerve growth factor receptor p75NGR; Low-affinity nerve growth factor receptor; NGF receptor; p75 ICD", "protein_names_refseq": "NGF receptor; TNFR superfamily, member 16; low affinity neurotrophin receptor p75NTR; low-affinity nerve growth factor receptor p75NGFR; low-affinity nerve growth factor receptor p75NGR; low-affinity nerve growth factor receptor; p75 ICD; tumor necrosis factor receptor superfamily member 16 precursor; tumor necrosis factor receptor superfamily member 16", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); alcohol dependence (Disease Ontology:DOID:0050741); diabetic encephalopathy (Disease Ontology:DOID:0050850); chronic pancreatitis (Disease Ontology:DOID:0051065); Parkinsonism (Disease Ontology:DOID:0080855); Hirschsprung's disease (Disease Ontology:DOID:10487); Alzheimer's disease (Disease Ontology:DOID:10652); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); polycystic ovary syndrome (Disease Ontology:DOID:11612); Lewy body dementia (Disease Ontology:DOID:12217); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); Huntington's disease (Disease Ontology:DOID:12858); dementia (Disease Ontology:DOID:1307); Parkinson's disease (Disease Ontology:DOID:14330); urticaria (Disease Ontology:DOID:1555); depressive disorder (Disease Ontology:DOID:1596); cystitis (Disease Ontology:DOID:1679); glaucoma (Disease Ontology:DOID:1686); pancreatic cancer (Disease Ontology:DOID:1793); atherosclerosis (Disease Ontology:DOID:1936); transient cerebral ischemia (Disease Ontology:DOID:224); multiple sclerosis (Disease Ontology:DOID:2377); atopic dermatitis (Disease Ontology:DOID:3310); coronary artery disease (Disease Ontology:DOID:3393); middle cerebral artery infarction (Disease Ontology:DOID:3525); rhinitis (Disease Ontology:DOID:4483); congestive heart failure (Disease Ontology:DOID:6000); degenerative disc disease (Disease Ontology:DOID:90); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:4804); (R-HSA-193634); (R-HSA-193648); (R-HSA-193670); (R-HSA-193681); (R-HSA-193692); (R-HSA-205017); (R-HSA-205025); (R-HSA-205043); (R-HSA-209543); (R-HSA-209560); (R-HSA-209563)", "pathway_count": 12, "publication_count": 59, "publication_id_list": "10022904;10514511;10544233;10747026;10764727;11201742;11244088;11278287;11487608;11729324;11756498;11830582;12097334;12426574;12682012;12692556;12843241;12913006;12963025;14673001;14960584;14966521;14985763;15128850;15131306;15465037;15470142;15496460;15701642;16252010;16630834;17196528;19052207;20166139;22155786;22566094;23785138;24275569;24908487;26646181;2850481;3022937;31844290;31848261;32350084;33968037;36834612;36856547;38016691;38339011;38732165;8599092;8627329;8837778;9195882;9252186;9520479;9575168;9915784", "class_list": "", "function": "CD271 promotes proliferation and migration in bladder cancer., [RefSeq, PubMed]; Ethnicity-Based Variations in Focal Adhesion Kinase Signaling in Glioblastoma Gene Expression: A Study of the Puerto Rican Hispanic Population. Publication Status: Online-Only, [RefSeq, PubMed]; Joint CB1 and NGF Receptor Activation Suppresses TRPM8 Activation in Etoposide-Resistant Retinoblastoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Low affinity receptor which can bind to NGF, BDNF, NTF3, and NTF4. Forms a heterodimeric receptor with SORCS2 that binds the precursor forms of NGF, BDNF and NTF3 with high affinity, and has much lower affinity for mature NGF and BDNF (PubMed:24908487). Plays an important role in differentiation and survival of specific neuronal populations during development (By similarity). Can mediate cell survival as well as cell death of neural cells. Plays a role in the inactivation of RHOA (PubMed:26646181). Plays a role in the regulation of the translocation of GLUT4 to the cell surface in adipocytes and skeletal muscle cells in response to insulin, probably by regulating RAB31 activity, and thereby contributes to the regulation of insulin-dependent glucose uptake (By similarity). Necessary for the circadian oscillation of the clock genes BMAL1, PER1, PER2 and NR1D1 in the suprachiasmatic nucleus (SCmgetaN) of the brain and in liver and of the genes involved in glucose and lipid metabolism in the liver (PubMed:23785138). Together with BFAR negatively regulates NF-kappa-B and JNK-related signaling pathways (PubMed:22566094)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq, Jul 2008]., [RefSeq]; Neural cell adhesion molecule 1 is a cellular target engaged plasma biomarker in demyelinating Charcot-Marie-Tooth disease., [RefSeq, PubMed]; The Nerve Growth Factor Receptor (NGFR/p75[NTR]): A Major Player in Alzheimer's Disease. 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": 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": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 1666, "biomarker_type": "", "glycan_count": 4, "disease_count": 31, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R961;B4E096", "ec_number_list": "", "go_molecular_function": "GO:0048406 nerve growth factor binding;GO:0043121 neurotrophin binding;GO:0004888 transmembrane signaling receptor activity;GO:0005516 calmodulin binding;GO:0015026 coreceptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005654 nucleoplasm;GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:1903588 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis;GO:0006886 intracellular protein transport;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0051402 neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "P08138-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95231-1", "uniprot_id": "VENTX_HUMAN", "mass": 27552.0, "length": 258, "protein_name": "Homeobox protein VENTX", "gene_name": "VENTX", "organism": "Human", "refseq_name": "homeobox protein VENTX", "refseq_ac": "NP_055283", "gene_names_uniprotkb": "VENTX; HPX42B; VENTX2", "gene_names_refseq": "HPX42B; NA88A; VENTX2; VENTX", "protein_names_uniprotkb": "Homeobox protein VENTX; VENT homeobox homolog; VENT-like homeobox protein 2", "protein_names_refseq": "VENT homeobox homolog; VENT-like homeobox 2; VENT-like homeobox protein 2; hemopoietic progenitor homeobox protein VENTX2; homeobox protein VENTX", "tax_id": 9606, "disease": "", "pathway": " (hsa:27287); (R-HSA-2559582); (R-HSA-8853884)", "pathway_count": 3, "publication_count": 40, "publication_id_list": "10201372;10318916;10432220;10548110;11114305;11340163;11549314;12832467;14679213;15774718;16626623;18267069;18411265;18555777;18555778;19805069;20028861;20351173;20452968;21325273;21670496;2183031;21979375;22178396;22634325;23846687;2405250;24706756;29872044;31492838;32573491;35051231;8234276;8384717;8413215;8413306;8617720;8688489;8884985;8939459", "class_list": "", "function": "Findings suggest potential applications of homeobox protein VentX (VentX)-regulated tumor-associated macrophages (TAMs) in cancer immunotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in ventralization., [UniProtKB]; This gene encodes a member of the Vent family of homeodomain proteins. The encoded protein may function as a transcriptional repressor and be involved in mesodermal patterning and hemopoietic stem cell maintenance. Multiple pseudogenes exist for this gene. A transcribed pseudogene located on chromosome X may lead to antigen production in certain melanomas. [provided by RefSeq, Jul 2008]., [RefSeq]; VentX expression in tumor-associated macrophages promotes phagocytosis and immunity against pancreatic cancers. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q32MZ3", "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:0043565 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:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "O95231-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15056-1", "uniprot_id": "BRAF_HUMAN", "mass": 84437.0, "length": 766, "protein_name": "Serine/threonine-protein kinase B-raf", "gene_name": "BRAF", "organism": "Human", "refseq_name": "serine/threonine-protein kinase B-raf isoform 1", "refseq_ac": "NP_004324", "gene_names_uniprotkb": "BRAF; BRAF1; RAFB1", "gene_names_refseq": "B-RAF1; B-raf; BRAF-1; BRAF1; BRAF; NS7; RAFB1", "protein_names_uniprotkb": "Serine/threonine-protein kinase B-raf; 2.7.11.1; Proto-oncogene B-Raf; p94; v-Raf murine sarcoma viral oncogene homolog B1", "protein_names_refseq": "94 kDa B-raf protein; B-Raf proto-oncogene serine/threonine-protein kinase (p94); B-Raf serine/threonine-protein; murine sarcoma viral (v-raf) oncogene homolog B1; proto-oncogene B-Raf; serine/threonine-protein kinase B-raf isoform 1; serine/threonine-protein kinase B-raf; v-raf murine sarcoma viral oncogene homolog B1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); cardiofaciocutaneous syndrome (Disease Ontology:DOID:0060233); Noonan syndrome 7 (Disease Ontology:DOID:0060585); Noonan syndrome with multiple lentigines 3 (Disease Ontology:DOID:0080550); cardiofaciocutaneous syndrome 1 (Disease Ontology:DOID:0111460); lung cancer (Disease Ontology:DOID:1324); colon carcinoma (Disease Ontology:DOID:1520); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); melanoma (Disease Ontology:DOID:1909); prostate adenocarcinoma (Disease Ontology:DOID:2526); Langerhans-cell histiocytosis (Disease Ontology:DOID:2571); dysembryoplastic neuroepithelial tumor (Disease Ontology:DOID:2679); endometrial carcinoma (Disease Ontology:DOID:2871); malignant astrocytoma (Disease Ontology:DOID:3069); high grade glioma (Disease Ontology:DOID:3070); germinoma (Disease Ontology:DOID:3304); papillary thyroid carcinoma (Disease Ontology:DOID:3969); pleomorphic xanthoastrocytoma (Disease Ontology:DOID:4852); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); cholangiocarcinoma (Disease Ontology:DOID:4947); bile duct adenoma (Disease Ontology:DOID:5381); pancreatic acinar cell adenocarcinoma (Disease Ontology:DOID:5742); familial melanoma (Disease Ontology:DOID:6846); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:673); (R-HSA-1295596); (R-HSA-170968); (R-HSA-170984); (R-HSA-187706); (R-HSA-5673000); (R-HSA-5674135); (R-HSA-5674499); (R-HSA-5675221); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9726840); (R-HSA-9726842)", "pathway_count": 17, "publication_count": 1267, "publication_id_list": "10205168;10206983;10209122;10409742;10415025;10490027;10567369;10629055;10702794;10712905;10725339;10757792;10869359;10887178;10891492;11032810;11053437;11120772;11237011;11238463;11278445;11279012;11325826;11410590;11466412;11494123;11510412;11698404;11741534;11756411;11802164;11802165;12040181;12068308;12198537;12244094;12391162;12460919;12473660;12479806;12551923;12583813;12593795;12593796;12676795;12815057;12832465;12932319;12932339;14500344;14530258;14612909;14636584;14654779;14724641;14970219;15031289;15035987;1508179;15104674;15118098;15239952;15258589;15260967;15277467;15302935;15342696;15356020;15467451;15520807;15543157;15547943;15564375;15578519;15630448;15637081;15664191;15710605;15711535;15782118;15811117;15851477;15899852;15902486;15948115;16021577;16024606;16041367;16093354;16135787;16284401;16294014;1630826;16364920;16410717;16439621;16452550;16474404;16479008;16508002;16537381;16540682;16601293;16630891;16702958;16728573;16772349;16803888;16858395;16879721;16892053;16893902;16918957;16939974;16959974;16960555;16964243;17006850;17018604;17065421;17097642;17119056;17145850;17148775;17159915;17178906;17192257;17199737;17255109;17298986;17317846;17344846;17363500;17387744;17409425;17427169;17453004;17488796;17496912;17520704;17525723;17542667;17563371;17603482;17603483;17685465;17693984;17714762;17717450;17724343;17727338;17785355;17824790;17924679;17942460;17972530;17993263;18042262;18071315;18096441;18098337;18287029;18294816;18310287;18332145;18393366;18426810;18451171;18452278;18515281;18519771;18524847;18547165;18559533;18562239;18583391;18602919;18615679;18636014;18662992;18668139;18669648;18679422;18682506;18691976;18697864;18715233;18757433;18790768;18794803;18806830;18840924;18974108;19001320;19014278;19040996;19049963;19091303;19091743;19158341;19159571;19190129;19206169;19219045;19242111;19279408;19289622;19351826;19355825;19370505;19424571;19467855;19475551;19534623;19541618;19574281;19582761;19651622;19652585;19659611;19682280;19684605;19690147;19710016;19724275;19727074;19737955;19878585;19881948;19903742;19933846;20012784;20023270;20025539;20027224;20052757;20058876;20068183;20068231;20130576;20141835;20149136;20156809;20162668;20166139;20179705;20230923;20230995;20332238;20406109;20410389;20470206;20526349;20531415;20551065;20576522;20607744;20607849;20630094;20635392;20637346;20652698;20674547;20818844;20820846;20837233;20857202;20858867;20926530;20941790;20944096;20972475;21102438;21107323;21134544;21135229;21136722;21167555;21174863;21179278;21274720;21355020;21403618;21406692;21424530;21441104;21441910;21447745;21455633;21478863;21479234;21483012;21514245;21587258;21594703;21615881;21635872;21639808;21653734;21660283;21681432;21694724;21708284;21716161;21717063;21730105;21774961;21779496;21784453;21788131;21795305;21803329;21822300;21825258;21862261;21875464;21879273;21882184;21884820;21900390;21903858;21910720;21917714;21937738;21945875;21948220;21962474;21993244;21995398;21995399;21995400;22028477;22033631;22043453;22056813;22065583;22072557;22090271;22091682;22105775;22110486;22113612;22118425;22133769;22136270;22170714;22177953;22189819;22190222;22202162;22210186;22210875;22212630;22230299;22234612;22235286;22246856;22281684;22292133;22313586;22332713;22335197;22356324;22376167;22382362;22385786;22395615;22419100;22426956;22435913;22492957;22506009;22508706;22510884;22515292;22522845;22524468;22531170;22535154;22535643;22535974;22544926;22549559;22549727;22549934;22553342;22569528;22576211;22588879;22589270;22592144;22592532;22628551;22639828;22646765;22649416;22661227;22663011;22691412;22702340;22710963;22730326;22730329;22732794;22738431;22740817;22742884;22743296;22745248;22745804;22767446;22820660;22826437;22833462;2284096;22850568;22858857;22890732;22898188;22930283;22933967;22941165;22985957;22997209;22997239;23009221;23025996;23026937;23031422;23051966;23055546;23066120;23074264;23082883;23086767;23087082;23089489;23095503;23096133;23105109;23109980;23131393;23157614;23158172;23161556;23161722;23163107;23171796;23179992;23186163;23190154;23190890;23196000;23203004;23211289;23211290;23233649;23237741;23251002;23253715;23263490;23278307;23288408;23303445;23306863;23317446;23322213;23323158;23326492;23341544;23349307;23352452;23354848;23354951;23360980;23370429;23403819;23406047;23414134;23435375;23439714;23442159;23453624;23455323;23463675;23469793;23469895;23481700;23483066;23489023;23496275;23499336;23526598;23528169;23533235;23544999;23547069;23549875;23552385;23553055;23571588;23583981;23589031;23603840;23612012;23614898;23621583;23624923;23650027;23653869;23664541;23667175;23677116;23680146;23690118;23692905;23715574;23722226;23725167;23726842;23733758;23756728;23763264;23766237;23775351;23788690;23792568;23802768;23806056;23807941;23825589;23826570;23831947;23837025;23848818;23857250;23863182;23875798;23881668;23887157;23887306;23892906;23893334;23906342;23907581;23923085;23923114;23925579;23925625;23925626;23925627;23925628;23927882;23931769;23931930;23934108;23935925;23963522;23979856;23981603;23993095;24009630;24026210;24030686;24035431;24039206;24052184;24057326;24071017;24085553;24094449;24095280;24107445;24117833;24118207;24121058;24121489;24124924;24135138;24138831;24178368;24194739;24196789;24201813;24202393;24211266;24243688;24247620;24248543;24252190;24258977;24259661;24270325;24275569;24290130;24297085;24300723;24301760;24309328;24316730;24335665;24335681;24345274;24345920;24347342;24348463;24353007;24354918;24362526;24382015;24389984;24396464;24398428;24417277;24417340;24425783;24433452;24445188;24455489;24503706;24504441;24508103;24523613;24529329;24531984;24532263;24535907;24549591;24559275;24563339;24567436;24570209;24585723;24588073;24603332;24604709;24612623;24614711;24617711;24638167;24651010;24651849;24660121;24666485;24670642;24677749;24679337;24684646;24703243;24709886;24715725;24720374;24721322;24721513;24725538;24732172;24742694;24745617;24746704;24769640;24780046;24787545;24789721;24812557;24823863;24828987;24832158;24839220;24858661;24859797;24879157;24884503;24894018;24917033;24919155;24921639;24925349;24926260;24927793;24933606;24937142;24954356;24955518;24957944;24961811;24964758;24971022;24971404;24987354;24997557;25012490;25013473;25014730;25024077;25048604;25053682;25063807;25066317;25073704;25074543;25083484;25085839;25092772;25116269;25117819;25120816;25122067;25137548;25142731;25156525;25159853;25174456;25176643;25195011;25204415;25213729;25241863;25262966;25265492;25266729;25268025;25273224;25313996;25314968;25317411;25318587;25318602;25319388;25321469;25323827;25325273;25332244;25333496;25346165;25353071;25359093;25361077;25363644;25364391;25367198;25382067;25399551;25411185;25429742;25435214;25435907;25442222;25466451;25468810;25468936;25472943;25482468;25484091;25511147;25511150;25515853;25517872;25523300;25543407;25549723;25576301;25576527;25581727;25597358;25602792;25602793;25605317;25607474;25616949;25621040;25623974;25624727;25628951;25643238;25645385;25673642;25702102;25736029;25744437;25745621;25752325;25755776;25755913;25767210;25787243;25787767;25794135;25806238;25811650;25820214;25858127;25885250;25890285;25894433;25899003;25907612;25911848;25937618;25938346;25952101;25957797;25960652;25965804;25973534;25975689;25976339;25980594;25989506;25991583;26005530;26014474;26020381;26020488;26032958;26041461;26058727;26066373;26070258;26071465;26083553;26084614;26096739;26120069;26124490;26125673;26125698;26136882;26137119;26148673;26153495;26154972;26160848;26167339;26171248;26189429;26191315;26197800;26204954;26208524;26214416;26214590;26232865;26268700;26273300;26273372;26279295;26296380;26339365;26343583;26347206;26352988;26359417;26367451;26375727;26375851;26384551;26384552;26384810;26403329;26404554;26414224;26422023;26438153;26445861;26454140;26455504;26460303;26460952;26461266;26469830;26486743;26490654;26496026;26506214;26512791;26513490;26517431;26521063;26521469;26562020;26575115;26584635;26588428;26594172;26598713;26600396;26602910;26622769;26631873;26636651;26637773;26640592;26643848;26652624;26695089;26697469;26697473;26711586;26711930;26715280;26731560;26733165;26733501;26744778;26750638;26751190;26768311;26775573;26776917;26780618;26782702;26782803;26787892;26790143;26795218;26807515;26815318;26823846;26823860;26825657;26838744;26851802;26854757;26857243;26871894;26884113;26884114;26885073;26885200;26886222;26889698;26898828;26910217;26924424;26932501;26936534;26951110;26960768;26980298;26984828;26989536;26992070;27001432;27009410;27034005;27041702;27042173;27057458;27064992;27073540;27080216;27097112;27102439;27124588;27127178;27138882;27143921;27146499;27151331;27151833;27179656;27184112;27194985;27203149;27210749;27219630;27220476;27227380;27253461;27255157;27256275;27261210;27264673;27277113;27283860;27302309;27313934;27320919;27336602;27337967;27338362;27345148;27353360;27363650;27387551;27399332;27404270;27416954;27447554;27460442;27466182;27484771;27488807;27497007;27503831;27510784;27532222;27543599;27544995;27568671;27569082;27571181;27581851;27600516;27600854;27621653;27622011;27624451;27624806;27625138;27645472;27655717;27666765;27672042;27682157;27690220;27718012;27771229;27783987;27793752;27818286;27819235;27819236;27824297;27829211;27843810;27846572;27860162;27863429;27864688;27867864;27875244;27880942;27911099;27919446;27923591;27938611;27956538;27999210;28031237;28034324;28063628;28072975;28076410;28078189;28082416;28084334;28089569;28112041;28124274;28133101;28157711;28176151;28181325;28209747;28218747;28228285;28247222;28255242;28257096;28289718;28297754;28329426;28342873;28344857;28376192;28413212;28413213;28424234;28440781;28459034;28475671;28480077;28486044;28488545;28490781;28514659;28521635;28537807;28539463;28552827;28576751;28576831;28617898;28622068;28646474;28649441;28666118;28687736;28718951;28775171;28786099;28789361;28808756;28810295;28826720;28832583;28834231;28840946;28848703;28858076;28927118;28928829;28936920;28939558;28947418;28984291;29042774;29043205;29059311;29072975;29076950;29088832;29090514;29105198;29119584;29127628;29132392;29138945;29142786;29146159;29152094;29156680;29162506;29168975;29175850;29193645;29202777;29230924;29232305;29238890;29240539;29240540;29242379;29254799;29264486;29299145;29310328;29320776;29335436;29369405;29371951;29393594;29416666;29433126;29438093;29451347;29461827;29467321;29483930;29491057;29493099;29534162;29549631;29557506;29560564;29562502;29563631;29563632;29567362;29568360;29593792;29595366;29611028;29616135;29621181;29631033;29632046;29635451;29662327;29663854;29695638;29729495;29766713;29786170;29799910;29805692;29807803;29844492;29850361;29851929;29868127;29868707;29881305;29895015;29902580;29903896;29962848;29983163;30034615;30348783;30429286;3043188;30524438;30794926;31024343;31059601;31108500;31154438;31453322;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32782246;3287375;32938616;33141586;33298915;33375360;33537174;33691108;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35154160;35561310;35580925;35768504;35830882;36010968;36215666;36241641;36284347;36402789;36427494;37938771;39420942;39436655;7542586;7565670;7565795;7731720;7744815;7806500;7929275;7935411;8013650;8051079;8157000;8387505;8521512;8521513;8521514;8637718;8876196;8946910;9020159;9182757;9234708;9560161;9689060;9733512;9823899;9858547", "class_list": "", "function": "EIF4F controls ERK MAPK signaling in melanomas with BRAF and NRAS mutations., [RefSeq, PubMed]; Follicular cell-derived thyroid carcinomas harboring novel genetic BRAF[NON-V600E] mutations: real-world data obtained using a multigene panel. Publication Status: Online-Only, [RefSeq, PubMed]; Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). Phosphorylates PFKFB2 (PubMed:36402789). May play a role in the postsynaptic responses of hippocampal neurons (PubMed:1508179)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 51, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 91, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 27, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D1T4;B6HY61;B6HY62;B6HY63;B6HY64;B6HY65;B6HY66;Q13878;Q3MIN6;Q9UDP8;Q9Y6T3", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;3.6.5.2;2.7.11.-;2.7.11.4;2.7.11.10;2.3.2.27;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.10.1;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;3.1.3.16;2.7.10.4;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;3.6.4.-;3.1.3.53;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;2.7.1.107;2.7.1.94;2.7.1.138;3.6.5.-;2.7.7.-;2.7.7.19;1.14.11.65;3.1.31.1;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0010628 positive regulation of gene expression;GO:0033138 positive regulation of peptidyl-serine phosphorylation;GO:0043066 negative regulation of apoptotic process;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 126.8, "record_id": "P15056-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6K9-1", "uniprot_id": "NEMO_HUMAN", "mass": 48198.0, "length": 419, "protein_name": "NF-kappa-B essential modulator", "gene_name": "IKBKG", "organism": "Human", "refseq_name": "NF-kappa-B essential modulator isoform d", "refseq_ac": "NP_001308326", "gene_names_uniprotkb": "IKBKG; FIP3; NEMO", "gene_names_refseq": "AMCBX1; EDAID1; FIP-3; FIP3; Fip3p; IKBKG; IKK-gamma; IKKAP1; IKKG; IMD33; IP1; IP2; IPD2; IP; NEMO; SAIDX; ZC2HC9", "protein_names_uniprotkb": "NF-kappa-B essential modulator; FIP-3; I-kappa-B kinase subunit gamma; IKK-gamma; IKKAP1; IKKG; IkB kinase subunit gamma; IkB kinase-associated protein 1; Inhibitor of nuclear factor kappa-B kinase subunit gamma; NEMO; NF-kappa-B essential modifier", "protein_names_refseq": "14.7K (adenovirus E3 protein) interacting protein 3; I-kappa-B kinase subunit gamma; NF-kappa-B essential modifier; NF-kappa-B essential modulator isoform d; NF-kappa-B essential modulator; ikB kinase subunit gamma; ikB kinase-associated protein 1; incontinentia pigmenti; inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma; inhibitor of nuclear factor kappa B kinase subunit gamma", "tax_id": 9606, "disease": "ectodermal dysplasia and immune deficiency (Disease Ontology:DOID:0081077); ectodermal dysplasia and immunodeficiency 1 (Disease Ontology:DOID:0081078); immunodeficiency 33 (Disease Ontology:DOID:0112003); Bloch-Sulzberger syndrome (Disease Ontology:DOID:12305); Behcet's disease (Disease Ontology:DOID:13241); liver cancer (Disease Ontology:DOID:3571); hepatocellular carcinoma (Disease Ontology:DOID:684); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); learning disability (Disease Ontology:DOID:8927); acute myocardial infarction (Disease Ontology:DOID:9408); steatotic liver disease (Disease Ontology:DOID:9452); irritable bowel syndrome (Disease Ontology:DOID:9778); autoinflammatory disease, X-linked (MONDO:MONDO:0800129)", "pathway": " (hsa:8517); (R-HSA-1169091); (R-HSA-1236974); (R-HSA-168638); (R-HSA-168927); (R-HSA-1810476); (R-HSA-202424); (R-HSA-2871837); (R-HSA-445989); (R-HSA-450302); (R-HSA-450321); (R-HSA-4755510); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5602636); (R-HSA-5603027); (R-HSA-5603029); (R-HSA-5607764); (R-HSA-5684264); (R-HSA-5689880); (R-HSA-5689896); (R-HSA-9020702); (R-HSA-933542); (R-HSA-933543); (R-HSA-937039); (R-HSA-937041); (R-HSA-9705671); (R-HSA-975144); (R-HSA-9758274); (R-HSA-9833482); (R-HSA-9860276); (R-HSA-9860927); (R-HSA-9909505)", "pathway_count": 33, "publication_count": 702, "publication_id_list": "10066435;10075690;10082513;10087442;10187770;10224040;10230406;10321728;10329646;10348343;10364167;10385526;10400669;10444327;10514424;10514433;10521396;10593898;10620360;10626894;10648614;10698680;10702308;10716940;10723127;10779524;10837247;10838074;10839543;10848580;10854325;10866685;10882101;10918611;10944468;10982817;11002417;11047757;11053425;11057907;11064457;11080499;11087742;11090634;11094434;11096080;11098060;11124955;11134010;11152499;11156368;11158290;11181075;11224521;11237011;11238103;11238927;11242109;11262391;11278865;11313968;11325957;11337501;11350938;11358993;11389905;11418127;11427719;11438540;11460167;11463333;11500375;11566882;11577081;11590134;11606584;11717445;11772397;11781817;11884229;11909525;11923872;11939789;11960013;11971985;11985496;12019269;12045264;12070292;12107169;12118249;12133833;12167698;12171911;12221085;12231563;12397061;12473183;12473184;12482991;12496252;12514169;12527755;12538665;12612076;12657630;12660731;12667451;12692549;12709429;12759408;12791687;12791997;12796777;12832462;12860405;12882984;12884866;12917689;12917691;1373135;14514672;14523047;14585331;14625308;14633987;14651848;14661020;14673179;14695475;14716293;14754897;15024054;15053880;15064760;15100680;15105418;15122200;15125833;15145317;15169888;15208624;15229184;15229216;15258597;15299030;15327770;15334086;15337789;15356572;15371334;15389287;15456791;15541657;15620648;15737233;15752359;15778223;15814722;15837794;15845454;15870263;15907845;15916963;15917247;16056267;16115877;16127453;16179258;16179259;16186825;16214042;16252004;16260783;16282325;16301747;16341139;16356853;16356855;16356856;16360037;16373505;16431927;16497931;16547522;16585540;16600570;16603398;16612002;16618810;16682944;16717090;16806191;16818673;16829951;16829952;16831874;16884718;16901786;16906147;16950813;16953224;1695551;16964248;16978534;16982605;17047224;17072321;17079286;17135271;17141195;17158449;17196820;17290220;17303577;17314102;17363905;17428801;17443180;17468049;17496917;17507369;17548359;17562858;1756723;17675297;17702576;17728323;17873522;17890055;17948050;17977820;17980597;17981138;17997719;18057259;18070982;18079694;18096616;18164680;18172164;18178551;18180283;18280240;1828071;18287044;18313693;1833184;18347055;18412279;18438411;18462684;18462924;18467330;18617892;18632802;18636086;18669648;18691976;18692471;18724939;18761323;18772140;18835251;18836453;18941233;18957415;19015242;19022706;19033441;19066035;19135894;19136968;19185524;19188362;19217269;19229320;19264966;19278658;19289468;19297320;19359218;19363159;19383985;19398555;19416807;19416861;19424180;19464428;19535145;19590578;19666475;19710021;19733181;19804757;19818707;19838063;19838211;19854139;19854204;19874889;19903815;19909372;19910467;19934406;19996094;20005846;20010814;20038579;20068231;20096447;20185725;20188669;20193029;20219915;20228808;20300203;20304918;20368735;20385093;20395957;20434027;20434986;20449947;20501646;20519500;20538596;20553488;20685844;20685959;20696886;20724660;21072047;21123651;21138416;21235526;21239494;21294215;21362556;2139180;21408173;21455173;21455180;21455181;21474709;2147937;21518757;21518807;21525931;21571647;21596315;21606507;21636578;21659512;21703539;21849505;21931591;21937648;21962518;21966355;21978664;21994559;22029577;22069318;22078572;22085928;22099304;22124327;22128162;22153078;22179575;22214662;22216260;22265677;22297296;22435550;2247437;22649547;22672233;22798961;22848449;22941947;22986343;22988300;23084476;23159851;23229543;23301498;23313255;23395819;23453969;23486064;23613522;23708964;23732991;23746843;23824326;23825189;23827681;24012789;24056413;24068928;24074955;24098568;24100029;24246475;24260525;24275569;24323043;24339369;24347309;24369075;24493797;24586164;24610782;24623135;24659800;24715725;24726323;24726327;24753571;24896179;24920812;25074923;25083866;25152375;25197364;25218447;25305019;25326418;25326420;25565632;25576301;25578727;25645385;25653431;25848059;25861989;25904330;26101251;26154972;26240016;26280536;26296658;26334375;26344099;26432638;26446704;26488609;26620909;26716879;26817845;26900751;26992070;26997266;27208315;27269119;27307491;27423063;27426725;27458237;27466718;27545878;27552911;27591049;27600516;27695001;27701768;27777308;27846572;27920218;27929056;27974558;28069888;28167698;28228285;28281686;28446606;28506461;28765891;28832583;28834231;28904123;28920952;28920954;29070839;29170442;29175459;29231267;29242379;29331515;29348664;29393594;29394925;29395325;29440070;2946959;29493099;29501855;29508533;29557506;29632711;29642005;29786170;30146158;30169894;30174290;30224801;30361438;30379171;30420664;30429286;30524438;30770398;30988283;31031002;31092671;31154438;3129195;31366726;31408443;31434731;31455651;31511692;31530632;31826938;31844290;31848261;31850239;31874111;31932854;32037480;32093270;32157095;32161166;32320653;32350084;32353859;32387766;32428392;32433612;32488085;32502341;32589897;32673515;32716602;32726803;32728199;32801355;32935379;32938616;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33141586;33298915;33349665;33360543;33372174;33372854;33396605;33440148;33469115;33479219;33495715;33514628;33567255;33592498;33654074;33691108;33718825;33723219;33723527;33727702;33801464;33807682;33808629;33849972;33895773;33911136;33936100;33963333;33968037;33989516;33990585;34021074;34054808;34078123;34084167;34110168;34162724;34166398;34174402;34239064;34290717;34341353;34363755;34375313;34400613;34439781;34452305;34471099;34502139;34561969;34597346;34876703;34932366;34974812;35051231;35102342;35154160;35580925;35643212;35685460;35941131;35947956;36712380;36793726;37051252;37127961;37863913;37938771;38536952;38665916;38755681;38773385;7479848;7479976;7491766;7499357;7515177;7531702;7545299;7565688;7575604;7578059;7612269;7628694;7667287;7693978;7737357;7809113;7831327;7862124;7903669;7957109;8327496;8332913;8387275;8533096;8550590;8576172;8576179;8599092;8601309;8622669;8661426;8670417;8810342;8837778;8910500;8972730;9008162;9034343;9049422;9065443;9079663;9135156;9252186;9315679;9346484;9362451;9371760;9430229;9430721;9442054;9521856;9528799;9535861;9687506;9687533;9689078;9721103;9734360;9737981;9744859;9751060;9768359;9819388;9859996;9865693;9891086;9914500;9920933;9927690;9950430;9990852;9990853", "class_list": "", "function": "(Microbial infection) Also considered to be a mediator for HTLV-1 Tax oncoprotein activation of NF-kappa-B., [UniProtKB, PubMed, PubMed]; Central nervous system anomalies in 41 Chinese children incontinentia pigmenti. Publication Status: Online-Only, [RefSeq, PubMed]; Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene., [RefSeq, PubMed]; NEMO/NF-kappaB signaling functions as a double-edged sword in PanIN formation versus progression to pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor (PubMed:14695475, PubMed:20724660, PubMed:21518757, PubMed:9751060). Its binding to scaffolding polyubiquitin plays a key role in IKK activation by multiple signaling receptor pathways (PubMed:16547522, PubMed:18287044, PubMed:19033441, PubMed:19185524, PubMed:21606507, PubMed:27777308, PubMed:33567255). Can recognize and bind both 'Lys-63'-linked and linear polyubiquitin upon cell stimulation, with a much higher affinity for linear polyubiquitin (PubMed:16547522, PubMed:18287044, PubMed:19033441, PubMed:19185524, PubMed:21606507, PubMed:27777308). Could be implicated in NF-kappa-B-mediated protection from cytokine toxicity. Essential for viral activation of IRF3 (PubMed:19854139). Involved in TLR3- and IFIH1-mediated antiviral innate response; this function requires 'Lys-27'-linked polyubiquitination (PubMed:20724660)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 36, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7LBY6;Q7Z7F1", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019904 protein domain specific binding;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0010628 positive regulation of gene expression;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 70.5, "record_id": "Q9Y6K9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P12821-1", "uniprot_id": "ACE_HUMAN", "mass": 149715.0, "length": 1306, "protein_name": "Angiotensin-converting enzyme", "gene_name": "ACE", "organism": "Human", "refseq_name": "angiotensin-converting enzyme isoform 1 precursor", "refseq_ac": "NP_000780", "gene_names_uniprotkb": "ACE; DCP1; DCP", "gene_names_refseq": "ACE1; ACE; CD143; DCP1; DCP", "protein_names_uniprotkb": "Angiotensin-converting enzyme; 3.4.15.1; ACE; Dipeptidyl carboxypeptidase I; Kininase II", "protein_names_refseq": "CD143 antigen; angiotensin I converting enzyme (peptidyl-dipeptidase A) 1; angiotensin-converting enzyme isoform 1 precursor; carboxycathepsin; dipeptidyl carboxypeptidase 1; dipeptidyl carboxypeptidase I; kininase II; peptidase P", "tax_id": 9606, "disease": "aspiration pneumonia (Disease Ontology:DOID:0050152); obstructive sleep apnea (Disease Ontology:DOID:0050848); glomerulosclerosis (Disease Ontology:DOID:0050851); renal fibrosis (Disease Ontology:DOID:0050855); non-arteritic anterior ischemic optic neuropathy (Disease Ontology:DOID:0050864); coarctation of the aorta (Disease Ontology:DOID:0051054); stroke (Disease Ontology:DOID:0051061); pre-malignant neoplasm (Disease Ontology:DOID:0060071); atrial fibrillation (Disease Ontology:DOID:0060224); CASGID syndrome (Disease Ontology:DOID:0061156); alcohol-associated liver disease (Disease Ontology:DOID:0070658); Coronavirus infectious disease (Disease Ontology:DOID:0080599); COVID-19 (Disease Ontology:DOID:0080600); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); focal segmental glomerulosclerosis 1 (Disease Ontology:DOID:0111128); developmental and epileptic encephalopathy 71 (Disease Ontology:DOID:0112207); stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); nephritis (Disease Ontology:DOID:10952); IgA vasculitis (Disease Ontology:DOID:11123); sarcoidosis (Disease Ontology:DOID:11335); pyelonephritis (Disease Ontology:DOID:11400); osteoporosis (Disease Ontology:DOID:11476); diabetic angiopathy (Disease Ontology:DOID:11713); nephrotic syndrome (Disease Ontology:DOID:1184); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); allergic disease (Disease Ontology:DOID:1205); primary biliary cholangitis (Disease Ontology:DOID:12236); leukemia (Disease Ontology:DOID:1240); hepatitis A (Disease Ontology:DOID:12549); dilated cardiomyopathy (Disease Ontology:DOID:12930); endomyocardial fibrosis (Disease Ontology:DOID:12932); leukostasis (Disease Ontology:DOID:12986); uveitis (Disease Ontology:DOID:13141); lung cancer (Disease Ontology:DOID:1324); Behcet's disease (Disease Ontology:DOID:13241); cholestasis (Disease Ontology:DOID:13580); toxic shock syndrome (Disease Ontology:DOID:14115); Fabry disease (Disease Ontology:DOID:14499); renovascular hypertension (Disease Ontology:DOID:1591); breast cancer (Disease Ontology:DOID:1612); anemia (Disease Ontology:DOID:2355); nephrosis (Disease Ontology:DOID:2527); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); IgA glomerulonephritis (Disease Ontology:DOID:2986); familial Mediterranean fever (Disease Ontology:DOID:2987); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); lymphangioleiomyomatosis (Disease Ontology:DOID:3319); coronary artery disease (Disease Ontology:DOID:3393); gallbladder adenocarcinoma (Disease Ontology:DOID:3500); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); pulmonary fibrosis (Disease Ontology:DOID:3770); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); lung carcinoma (Disease Ontology:DOID:3905); heart valve disease (Disease Ontology:DOID:4079); systemic scleroderma (Disease Ontology:DOID:418); allergic rhinitis (Disease Ontology:DOID:4481); liver cirrhosis (Disease Ontology:DOID:5082); ureteral obstruction (Disease Ontology:DOID:5199); schizophrenia (Disease Ontology:DOID:5419); pneumonia (Disease Ontology:DOID:552); proteinuria (Disease Ontology:DOID:576); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); mitral valve disease (Disease Ontology:DOID:61); hepatocellular carcinoma (Disease Ontology:DOID:684); ankylosing spondylitis (Disease Ontology:DOID:7147); abdominal aortic aneurysm (Disease Ontology:DOID:7693); end stage renal disease (Disease Ontology:DOID:783); ocular hypotension (Disease Ontology:DOID:790); myocarditis (Disease Ontology:DOID:820); extrinsic allergic alveolitis (Disease Ontology:DOID:841); polycythemia (Disease Ontology:DOID:8432); lung disease (Disease Ontology:DOID:850); chronic myeloid leukemia (Disease Ontology:DOID:8552); intermediate coronary syndrome (Disease Ontology:DOID:8805); diabetic retinopathy (Disease Ontology:DOID:8947); subacute sclerosing panencephalitis (Disease Ontology:DOID:8970); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744); diastolic heart failure (Disease Ontology:DOID:9775); mitral valve prolapse (Disease Ontology:DOID:988); obesity (Disease Ontology:DOID:9970); renal tubular dysgenesis of genetic origin (MONDO:MONDO:0009970); microvascular complications of diabetes, susceptibility to, 3 (MONDO:MONDO:0012963); hemorrhage, intracerebral, susceptibility to (MONDO:MONDO:0100533)", "pathway": " (hsa:1636); (R-HSA-2022377)", "pathway_count": 2, "publication_count": 151, "publication_id_list": "10.1101/2023.09.13.557529;10099885;10319862;10336644;10391210;10536878;10769174;10899625;10913258;10924499;10969042;11076943;11237011;11274151;11432860;11502696;11551873;11604391;11815627;12045255;12386153;12459472;12540854;12542396;12927775;1320019;14694062;14747736;15151696;15236580;15277638;15283675;15534175;15615692;15671045;15785205;16116425;16154999;16335952;16476442;16476786;1649623;1651327;1668266;16790432;17138938;17704566;17924679;18077343;1848554;1851160;19159218;19773553;19800993;20380117;20826823;20889553;21810173;21901117;21998728;22193701;2266130;22898188;23056909;23090970;23446738;24141856;24190977;24297181;2443571;2547653;2554286;2558109;2558510;25787250;26403559;26791533;26992070;2708524;27543614;27862975;2846041;2849100;28832583;29391424;29557506;29632711;29741879;29786170;2982830;2983326;3017438;30192525;30429286;31154438;31848261;32125861;32157095;32357974;32387766;32502341;32938616;32983136;33043033;33298915;33968037;33981976;34171305;34405274;34509645;35051231;35318648;35580925;36010968;36241641;37074911;37938771;383475;39000163;39044325;39080710;39160009;39336701;4289389;4322712;4322742;4330891;4360430;6055465;6208535;6269175;6270633;6303766;656131;6807977;7499427;7523412;7683654;7876104;7961923;7980644;8253769;8257427;8609242;8626443;8755737;9013598;9169443;9371719;9570564;9642152", "class_list": "", "function": "Association between Complex ACTN3 and ACE Gene Polymorphisms and Elite Endurance Sports in Koreans: A Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; Association between a single-nucleotide polymorphism of the angiotensin-converting enzyme gene and susceptibility to systemic lupus erythematosus in the Hainanese population of China., [RefSeq, PubMed]; Associations of ACE I/D and AGTR1 rs5182 polymorphisms with diabetes and their effects on lipids in an elderly Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; Dipeptidyl carboxypeptidase that removes dipeptides from the C-terminus of a variety of circulating hormones, such as angiotensin I, bradykinin or enkephalins, thereby playing a key role in the regulation of blood pressure, electrolyte homeostasis or synaptic plasticity (PubMed:15615692, PubMed:20826823, PubMed:2558109, PubMed:4322742, PubMed:7523412, PubMed:7683654). Composed of two similar catalytic domains, each possessing a functional active site, with different selectivity for substrates (PubMed:10913258, PubMed:1320019, PubMed:1851160, PubMed:19773553, PubMed:7683654, PubMed:7876104). Plays a major role in the angiotensin-renin system that regulates blood pressure and sodium retention by the kidney by converting angiotensin I to angiotensin II, resulting in an increase of the vasoconstrictor activity of angiotensin (PubMed:11432860, PubMed:1851160, PubMed:19773553, PubMed:23056909, PubMed:4322742). Also able to inactivate bradykinin, a potent vasodilator, and therefore enhance the blood pressure response (PubMed:15615692, PubMed:2558109, PubMed:4322742, PubMed:6055465, PubMed:6270633, PubMed:7683654). Acts as a regulator of synaptic transmission by mediating cleavage of neuropeptide hormones, such as substance P, neurotensin or enkephalins (PubMed:15615692, PubMed:6208535, PubMed:6270633, PubMed:656131). Catalyzes degradation of different enkephalin neuropeptides (Met-enkephalin, Leu-enkephalin, Met-enkephalin-Arg-Phe and possibly Met-enkephalin-Arg-Gly-Leu) (PubMed:2982830, PubMed:6270633, PubMed:656131). Acts as a regulator of synaptic plasticity in the nucleus accumbens of the brain by mediating cleavage of Met-enkephalin-Arg-Phe, a strong ligand of Mu-type opioid receptor OPRM1, into Met-enkephalin (By similarity). Met-enkephalin-Arg-Phe cleavage by ACE decreases activation of OPRM1, leading to long-term synaptic potentiation of glutamate release (By similarity). Also acts as a regulator of hematopoietic stem cell differentiation by mediating degradation of hemoregulatory peptide N-acetyl-SDKP (AcSDKP) (PubMed:26403559, PubMed:7876104, PubMed:8257427, PubMed:8609242). Acts as a regulator of cannabinoid signaling pathway by mediating degradation of hemopressin, an antagonist peptide of the cannabinoid receptor CNR1 (PubMed:18077343). Involved in amyloid-beta metabolism by catalyzing degradation of Amyloid-beta protein 40 and Amyloid-beta protein 42 peptides, thereby preventing plaque formation (PubMed:11604391, PubMed:16154999, PubMed:19773553). Catalyzes cleavage of cholecystokinin (maturation of Cholecystokinin-8 and Cholecystokinin-5) and Gonadoliberin-1 (both maturation and degradation) hormones (PubMed:10336644, PubMed:2983326, PubMed:7683654, PubMed:9371719). Degradation of hemoregulatory peptide N-acetyl-SDKP (AcSDKP) and amyloid-beta proteins is mediated by the N-terminal catalytic domain, while angiotensin I and cholecystokinin cleavage is mediated by the C-terminal catalytic region (PubMed:10336644, PubMed:19773553, PubMed:7876104)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Interaction between angiotensin-converting enzyme gene rs4343 polymorphism, environment factors, and angiotensin II level on susceptibility to knee osteoarthritis., [RefSeq, PubMed]; Isoform produced by alternative promoter usage that is specifically expressed in spermatocytes and adult testis, and which is required for male fertility (PubMed:1651327, PubMed:1668266). In contrast to somatic isoforms, only contains one catalytic domain (PubMed:1651327, PubMed:1668266). Acts as a dipeptidyl carboxypeptidase that removes dipeptides from the C-terminus of substrates (PubMed:1668266, PubMed:24297181). The identity of substrates that are needed for male fertility is unknown (By similarity). May also have a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose linkage in the GPI moiety. The GPIase activity was reported to be essential for the egg-binding ability of the sperm (By similarity). This activity is however unclear and has been challenged by other groups, suggesting that it may be indirect (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Proteomic Analysis of Human Macrophages Overexpressing Angiotensin-Converting Enzyme. Publication Status: Online-Only, [RefSeq, PubMed]; Soluble form that is released in blood plasma and other body fluids following proteolytic cleavage in the juxtamembrane stalk region., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 17, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 13, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 19, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 19, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 11, "reported_phosphosites": 3, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 89, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 124, "disease_count": 94, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "B0LPF0;B4DXI3;E7EU16;P22966;Q53YX9;Q59GY8;Q7M4L4", "ec_number_list": "3.4.24.11;3.4.15.1;3.4.-.-", "go_molecular_function": "GO:0003779 actin binding;GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0005516 calmodulin binding;GO:0008237 metallopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0007283 spermatogenesis;GO:0010629 negative regulation of gene expression;GO:0050435 amyloid-beta metabolic process;GO:0001822 kidney development", "synthesized_glycan_count": 0, "hit_score": 29.5, "record_id": "P12821-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P56524-1", "uniprot_id": "HDAC4_HUMAN", "mass": 119040.0, "length": 1084, "protein_name": "Histone deacetylase 4", "gene_name": "HDAC4", "organism": "Human", "refseq_name": "histone deacetylase 4 isoform 2", "refseq_ac": "NP_006028", "gene_names_uniprotkb": "HDAC4; KIAA0288", "gene_names_refseq": "AHO3; BDMR; HA6116; HD4; HDAC-4; HDAC-A; HDAC4; HDACA; NEDCHF; NEDCHID", "protein_names_uniprotkb": "Histone deacetylase 4; 3.5.1.98; HD4", "protein_names_refseq": "histone deacetylase 4 isoform 2; histone deacetylase A", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); stroke (Disease Ontology:DOID:0051061); ataxia telangiectasia (Disease Ontology:DOID:12704); impotence (Disease Ontology:DOID:1875); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); middle cerebral artery infarction (Disease Ontology:DOID:3525); aortic aneurysm (Disease Ontology:DOID:3627); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); retinal degeneration (Disease Ontology:DOID:8466); eating disorder (Disease Ontology:DOID:8670); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obesity (Disease Ontology:DOID:9970); neurodevelopmental disorder with central hypotonia and dysmorphic facies (MONDO:MONDO:0859232)", "pathway": " (hsa:9759); (R-HSA-2122947); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-350054); (R-HSA-4090294); (R-HSA-4551638); (R-HSA-8941284); (R-HSA-8951936); (R-HSA-9976102)", "pathway_count": 10, "publication_count": 222, "publication_id_list": "10206645;10220385;10487761;10523670;10713164;10869435;10879540;10882063;10958686;10964718;11006133;11044625;11112321;11121022;11237011;11461910;11463856;11470791;11509672;11585921;11740940;11960997;12032081;12050117;12077349;12091906;12144530;12177000;12209127;12354787;12374742;12391150;12530964;14500761;14578449;14701874;14980219;15107403;15107406;15138260;15192080;15192092;15199155;15537544;15546612;15574878;15592428;15760269;15824097;15829515;15923626;15961505;16093323;16256737;16530044;16530045;16738328;16751179;16912044;16959974;17003037;17018294;17020914;17105732;17114293;17157496;17179159;17218271;17314004;17373667;17401372;17442891;17468767;17646408;17646409;17717077;18043734;18077452;18094723;18296446;18374649;18408014;18491316;18628979;18669648;18691969;18824583;18824585;19041634;19151708;19211567;19524514;19651622;19690332;19692572;19726682;19850744;19864602;19955185;20068231;20098713;20110259;20159957;20351170;20417598;20691407;20719936;20972443;21118993;21467194;22042619;22360269;22402492;22493095;22649097;22865920;22930759;23186163;23188045;23546875;23750026;24068740;24169519;24229708;24275569;24369422;24413532;24715439;24715725;24782567;24934156;25114211;25391492;25576301;25645385;25704882;25728750;25752541;25892735;26154972;26305553;26992070;27068747;27708256;27759007;27807598;27846572;27862975;28218747;28228285;28319066;28514659;28832583;29242379;29393594;29437277;29485866;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30379171;30410026;30429286;30484775;30487602;30661366;31020640;31195810;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32818796;32897882;32938616;32983136;33123756;33141586;33392160;33537682;33717175;33912179;33936100;33968037;33981976;34171305;34509645;35051231;35251023;35318648;35580925;36215666;36241641;37217939;38253038;38665916;38874468;39133038;39302247;39326322;40136647;7566092;7588063;8001118;8649374;8687460;9179496;9244301;9315665;9462510;9604939;9620803;9651681;9694793;9819428", "class_list": "", "function": "HDAC4 influences the DNA damage response and counteracts senescence by assembling with HDAC1/HDAC2 to control H2BK120 acetylation and homology-directed repair., [RefSeq, PubMed]; Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008]., [RefSeq]; Interference with Histone Deacetylase 4 Regulates c-Jun N-terminal Kinase/Activating Protein-1 Signaling to Ameliorate Sepsis-induced Alveolar Epithelial Cell Injury., [RefSeq, PubMed]; NEDD9 is transcriptionally regulated by HDAC4 and promotes breast cancer metastasis and macrophage M2 polarization via the FAK/NF-kappaB signaling pathway., [RefSeq, PubMed]; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Deacetylates HSPA1A and HSPA1B at 'Lys-77' leading to their preferential binding to co-chaperone STUB1 (PubMed:27708256)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 25, "reported_mutagensis": 22, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 14, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "E9PGB9;F5GX36;Q86YH7;Q9UND6", "ec_number_list": "2.3.2.-;3.5.1.-;3.5.1.98;2.1.1.-;2.1.1.364;2.3.2.27;2.3.1.48;2.3.1.-;2.3.1.57;3.5.1.48;3.5.1.62", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042826 histone deacetylase 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:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006954 inflammatory response;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 23.0, "record_id": "P56524-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61289-1", "uniprot_id": "PSME3_HUMAN", "mass": 29506.0, "length": 254, "protein_name": "Proteasome activator complex subunit 3", "gene_name": "PSME3", "organism": "Human", "refseq_name": "proteasome activator complex subunit 3 isoform 1", "refseq_ac": "NP_005780", "gene_names_uniprotkb": "PSME3", "gene_names_refseq": "HEL-S-283; Ki; PA28-gamma; PA28G; PA28gamma; PSME3; REG-GAMMA", "protein_names_uniprotkb": "Proteasome activator complex subunit 3; 11S regulator complex subunit gamma; Activator of multicatalytic protease subunit 3; Ki nuclear autoantigen; PA28gamma; PA28g; Proteasome activator 28 subunit gamma; REG-gamma", "protein_names_refseq": "11S regulator complex gamma subunit; 11S regulator complex subunit gamma; Ki antigen; Ki nuclear autoantigen; Ki); REG gamma-3; activator of multicatalytic protease subunit 3; epididymis secretory protein Li 283; proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; proteasome activator 28 subunit gamma; proteasome activator 28-gamma; proteasome activator complex subunit 3 isoform 1; proteasome activator complex subunit 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10197); (R-HSA-9907900)", "pathway_count": 2, "publication_count": 128, "publication_id_list": "10657252;10835274;10973495;11185562;11237011;11432824;12629132;15004565;15111123;15831487;16251969;16303743;16990800;17074750;17189198;17323924;17540904;17948026;18309296;18446792;18452278;18669648;18991276;19490896;1968796;20068231;20471946;21320693;21993680;22424782;23186163;23301498;23481700;23612972;23783831;24715725;25361978;25576301;25645385;25810538;25880248;25892735;26154972;26375851;26992070;27543614;27600516;27846572;27862975;27920218;28228285;28263418;28352266;28442575;28598414;28649982;28832583;28834231;28855257;28860189;28904123;29242379;29331515;29493099;29508533;29557506;29632711;29769354;29786170;29789417;29934401;30315122;30429286;30484775;30524438;31217245;31575892;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34561969;34932366;35051231;35132862;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38312840;38423356;39103492;40914422;7545954;7951316;9325261", "class_list": "", "function": "Comprehensive analysis of PSME3: from pan-cancer analysis to experimental validation. Publication Status: Online-Only, [RefSeq, PubMed]; PQBP3 prevents senescence by suppressing PSME3-mediated proteasomal Lamin B1 degradation., [RefSeq, PubMed]; REGgamma Mitigates Radiation-Induced Enteritis by Preserving Mucin Secretion and Sustaining Microbiome Homeostasis., [RefSeq, PubMed]; Subunit of the 11S REG-gamma (also called PA28-gamma) proteasome regulator, a doughnut-shaped homoheptamer which associates with the proteasome. 11S REG-gamma activates the trypsin-like catalytic subunit of the proteasome but inhibits the chymotrypsin-like and postglutamyl-preferring (PGPH) subunits. Facilitates the MDM2-p53/TP53 interaction which promotes ubiquitination- and MDM2-dependent proteasomal degradation of p53/TP53, limiting its accumulation and resulting in inhibited apoptosis after DNA damage. May also be involved in cell cycle regulation. Mediates CCAR2 and CHEK2-dependent SIRT1 inhibition (PubMed:25361978)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 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": 5, "reported_mutagensis": 11, "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": "A8K9A3;O35563;P97373;Q12920;Q13172;Q9BQD9", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0061133 endopeptidase activator activity;GO:0002039 p53 binding;GO:0097371 MDM2/MDM4 family 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:0006979 response to oxidative stress;GO:0006915 apoptotic process;GO:0030317 flagellated sperm motility;GO:2001237 negative regulation of extrinsic apoptotic signaling pathway;GO:2000045 regulation of G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "P61289-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P36544-1", "uniprot_id": "ACHA7_HUMAN", "mass": 56449.0, "length": 502, "protein_name": "Neuronal acetylcholine receptor subunit alpha-7", "gene_name": "CHRNA7", "organism": "Human", "refseq_name": "neuronal acetylcholine receptor subunit alpha-7 isoform 1 precursor", "refseq_ac": "NP_000737", "gene_names_uniprotkb": "CHRNA7; NACHRA7", "gene_names_refseq": "CHRNA7-2; CHRNA7; NACHRA7; a7nAChR; nAChR7", "protein_names_uniprotkb": "Neuronal acetylcholine receptor subunit alpha-7; Nicotinic acetylcholine receptor subunit alpha-7; nAChR7", "protein_names_refseq": "a7 nicotinic acetylcholine receptor; alpha 7 neuronal nicotinic acetylcholine receptor; alpha-7 nicotinic cholinergic receptor subunit; cholinergic receptor, nicotinic alpha 7; cholinergic receptor, nicotinic, alpha 7 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 7; neuronal acetylcholine receptor protein, alpha-7 chain; neuronal acetylcholine receptor subunit alpha-7 isoform 1 precursor; neuronal acetylcholine receptor subunit alpha-7; nicotinic acetylcholine receptor subunit alpha-7", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); Alzheimer's disease (Disease Ontology:DOID:10652); Lewy body dementia (Disease Ontology:DOID:12217); lung cancer (Disease Ontology:DOID:1324); cognitive disorder (Disease Ontology:DOID:1561); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); schizophrenia (Disease Ontology:DOID:5419); rheumatoid arthritis (Disease Ontology:DOID:7148); malignant pleural mesothelioma (Disease Ontology:DOID:7474); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778)", "pathway": " (hsa:1139); (R-HSA-629594)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10945867;11237011;11829490;11840567;12508119;12810063;15504725;15609996;16120769;16251431;16968406;17709503;18723036;19059502;25259522;27344019;27789755;29557506;31560909;32488085;32783947;33239400;33735609;33981976;35051231;37217939;37804592;38161283;38382524;38836054;39002004;39094731;8145738;8188270;8906617;9009220;9121604;9782083", "class_list": "", "function": "Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (PubMed:15609996, PubMed:33735609, PubMed:8145738). CHRNA7 forms homopentameric neuronal acetylcholine receptors abundantly expressed in the central nervous system, characterized by fast desensitization and high calcium permeability (PubMed:31560909, PubMed:33735609, PubMed:38382524, PubMed:8145738). Also forms heteropentamers with CHRNB2, mainly expressed in basal forebrain cholinergic neurons. Involved in the modulation of calcium-dependent signaling pathways and influences the release of neurotransmitters, including dopamine, glutamate and GABA (PubMed:33239400). Also expressed in non-neuronal cells such as immune cells like lymphocytes, monocytes and macrophages (PubMed:12508119, PubMed:16968406, PubMed:25259522). In T cells, activation induces metabotropic signaling that results in an increase of intracellular Ca2+ concentrations, independent of ionotropic receptor functions (PubMed:17709503). In macrophages, required for acetylcholine-mediated inhibition of TNF and other inflammatory cytokine release (PubMed:12508119). Once activated by acetylcholine, nicotine or other agonists, selectively inhibits production of pro-inflammatory cytokines while leaving anti-inflammatory cytokines undisturbed (PubMed:12508119, PubMed:25259522). Stimulates the cholinergic anti-inflammatory pathway, controlling inflammation by inhibiting NFKB nuclear translocation and activating the JAK2-STAT3 pathway, independently of ion channel activity (PubMed:16968406, PubMed:25259522). Also expressed in the urothelium where it modulates reflex bladder activity by increasing intracellular calcium through internal stores and decreasing basal ATP release (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Crystal structure reveals canonical recognition of the phosphorylated cytoplasmic loop of human alpha7 nicotinic acetylcholine receptor by 14-3-3 protein., [RefSeq, PubMed]; Effect of alpha7 nAChR-autophagy axis of deciduous tooth pulp stem cells in regulating IL-1beta in the process of physiological root resorption of deciduous teeth., [RefSeq, PubMed]; The human alpha7 nicotinic acetylcholine receptor is a host target for the rabies virus glycoprotein. Publication Status: Online-Only, [RefSeq, PubMed]; The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]., [RefSeq]; The role of nicotinic acetylcholine receptors in the pathophysiology and pharmacotherapy of autism spectrum disorder: Focus on alpha7 nicotinic receptors. 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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 5, "reported_phosphosites": 3, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 13, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K7Q4;B4DFS0;Q15826;Q8IUZ4;Q96RH2;Q99555;Q9BXH0", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005216 monoatomic ion channel activity;GO:0005262 calcium channel activity;GO:0015464 acetylcholine receptor activity;GO:0015643 toxic substance binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0016020 membrane;GO:0030425 dendrite;GO:0044853 plasma membrane raft", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0007165 signal transduction;GO:0007271 synaptic transmission, cholinergic;GO:0007611 learning or memory;GO:0007613 memory", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "P36544-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H7C9-1", "uniprot_id": "AAMDC_HUMAN", "mass": 13332.0, "length": 122, "protein_name": "Mth938 domain-containing protein", "gene_name": "AAMDC", "organism": "Human", "refseq_name": "mth938 domain-containing protein isoform a", "refseq_ac": "NP_001303886", "gene_names_uniprotkb": "AAMDC; C11orf67; PTD015", "gene_names_refseq": "AAMDC; C11orf67; CK067; PTD015", "protein_names_uniprotkb": "Mth938 domain-containing protein; Adipogenesis associated Mth938 domain-containing protein", "protein_names_refseq": "UPF0366 protein C11orf67; adipogenesis associated Mth938 domain-containing protein; mth938 domain-containing protein isoform a; mth938 domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:28971)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;17850744;20068231;25880248;26992070;28218747;29242379;29314611;29557506;30429286;31116411;31217245;31530632;31844290;32157095;32938616;33772001;33912179;33968037;35051231;35580925;38665916", "class_list": "", "function": "AAMDC is post-transcriptionally regulated through APA and microRNAs, [RefSeq, PubMed]; May play a role in preadipocyte differentiation and adipogenesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic reprograming in estrogen receptor-positive breast 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": 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": "Q96AQ4;Q9Y6B1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0045600 positive regulation of fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9H7C9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01011-1", "uniprot_id": "AACT_HUMAN", "mass": 47651.0, "length": 423, "protein_name": "Alpha-1-antichymotrypsin", "gene_name": "SERPINA3", "organism": "Human", "refseq_name": "alpha-1-antichymotrypsin precursor", "refseq_ac": "NP_001076", "gene_names_uniprotkb": "SERPINA3; AACT; GIG24; GIG25", "gene_names_refseq": "AACT; ACT; GIG24; GIG25; SERPINA3", "protein_names_uniprotkb": "Alpha-1-antichymotrypsin; ACT; Cell growth-inhibiting gene 24/25 protein; Serpin A3", "protein_names_refseq": "alpha-1-antichymotrypsin precursor; alpha-1-antichymotrypsin; cell growth-inhibiting gene 24/25 protein; growth-inhibiting protein 24; growth-inhibiting protein 25; serine (or cysteine) proteinase inhibitor, clade A, member 3; serpin A3; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3", "tax_id": 9606, "disease": "adult respiratory distress syndrome (Disease Ontology:DOID:11394); Creutzfeldt-Jakob disease (Disease Ontology:DOID:11949); uveitis (Disease Ontology:DOID:13141); alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372); cystic fibrosis (Disease Ontology:DOID:1485); severe acute respiratory syndrome (Disease Ontology:DOID:2945); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); lung adenocarcinoma (Disease Ontology:DOID:3910); vasculitis (Disease Ontology:DOID:865)", "pathway": " (hsa:12); (R-HSA-114608); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "10.1038/emboj.2013.79;10618372;11237011;11289720;12754519;1351206;1435334;14630798;14668352;14760718;15297306;15638460;1618300;16335952;19159218;2015821;2016749;22661428;23234360;23481700;23584533;23640497;23650620;2404007;24279413;24530628;26811146;27600516;2787670;29391424;29557506;29632711;29671580;29741879;29786170;30237853;30459171;30833945;31154438;31844290;31848261;32125861;3257719;34171305;34357683;34725484;35051231;35580925;36284347;37074911;37340703;37721405;38133876;38204235;38647003;39097037;6457647;6547997;6556193;6606438;6687683;7521171;8244391;8467233;8647626;8692836;8836107;9521649;9880565", "class_list": "", "function": "Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2., [UniProtKB, PubMed]; Hypothermic machine perfusion reduces donation after circulatory death liver ischemia-reperfusion injury through the SERPINA3-mediated PI3Kdelta/Akt pathway., [RefSeq, PubMed]; Immunohistochemical Expression of the SERPINA3 Protein in Uterine Fibroids., [RefSeq, PubMed]; Regulation of CNS pathology by Serpina3n/SERPINA3: The knowns and the puzzles. Review article, [RefSeq, PubMed]; SERPINA3 is a marker of cartilage differentiation and is essential for the expression of extracellular matrix genes during early chondrogenesis., [RefSeq, PubMed]; SERPINA3: A novel inflammatory biomarker associated with cerebral small vessel disease burden in ischemic stroke., [RefSeq, PubMed]; The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jun 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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 5, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 194, "disease_count": 9, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B3KVQ7;Q13703;Q2TU87;Q2TU88;Q59GP9;Q6LBY8;Q6LDT7;Q6NSC9;Q8N177;Q96DW8;Q9UC47;Q9UNU9", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0031012 extracellular matrix;GO:0031093 platelet alpha granule lumen", "go_biological_process": "GO:0006954 inflammatory response;GO:0006953 acute-phase response;GO:0019216 regulation of lipid metabolic process;GO:0030277 maintenance of gastrointestinal epithelium;GO:0034097 response to cytokine", "synthesized_glycan_count": 0, "hit_score": 27.7, "record_id": "P01011-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96GR2-1", "uniprot_id": "ACBG1_HUMAN", "mass": 81290.0, "length": 724, "protein_name": "Long-chain-fatty-acid--CoA ligase ACSBG1", "gene_name": "ACSBG1", "organism": "Human", "refseq_name": "long-chain-fatty-acid--CoA ligase ACSBG1 isoform 2", "refseq_ac": "NP_001186306", "gene_names_uniprotkb": "ACSBG1; BGM; KIAA0631; LPD", "gene_names_refseq": "ACSBG1; BG1; BGM; BG; GR-LACS; LPD", "protein_names_uniprotkb": "Long-chain-fatty-acid--CoA ligase ACSBG1; 6.2.1.3; Acyl-CoA synthetase bubblegum family member 1; Lipidosin; hBG1; hsBGM; hsBG", "protein_names_refseq": "bubblegum; lipidosin; long-chain-fatty-acid--CoA ligase ACSBG1 isoform 2; long-chain-fatty-acid--CoA ligase ACSBG1; very long-chain acyl-CoA synthetase", "tax_id": 9606, "disease": "adrenoleukodystrophy (Disease Ontology:DOID:10588)", "pathway": " (hsa:23205); (R-HSA-75876)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10548543;10954726;11237011;11889465;12371743;12482854;12525535;12975357;15469937;15800013;16036915;16371355;17379924;17681178;17762044;18003621;18083107;18554506;18728184;19505953;19826053;20937905;21959040;23481700;24269233;24715725;25418920;25880248;26154972;28218747;28904123;29242379;29393594;29437277;29557506;29632046;30315122;32157095;32357974;33298915;34357683;35051231;36414910;8075637", "class_list": "", "function": "Catalyzes the conversion of fatty acids such as long-chain and very long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:10954726, PubMed:12975357, PubMed:24269233). Can activate diverse saturated, monosaturated and polyunsaturated fatty acids (PubMed:10954726)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Expression tends to be correlated with the severity of X-linked adrenoleukodystrophy, [RefSeq, PubMed]; Sex-Specific Differences in the Transcriptome of the Human Dorsolateral Prefrontal Cortex in Schizophrenia., [RefSeq, PubMed]; The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RB61;O75126;Q76N27;Q9HC26", "ec_number_list": "6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;6.2.1.2;6.2.1.25", "go_molecular_function": "GO:0005524 ATP binding;GO:0004467 long-chain fatty acid-CoA ligase activity;GO:0031957 very long-chain fatty acid-CoA ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0000038 very long-chain fatty acid metabolic process;GO:0001676 long-chain fatty acid metabolic process;GO:0035338 long-chain fatty-acyl-CoA biosynthetic process;GO:0042552 myelination;GO:0042759 long-chain fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q96GR2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49815-1", "uniprot_id": "TSC2_HUMAN", "mass": 200608.0, "length": 1807, "protein_name": "Tuberin", "gene_name": "TSC2", "organism": "Human", "refseq_name": "tuberin isoform 9", "refseq_ac": "NP_001305761", "gene_names_uniprotkb": "TSC2; TSC4", "gene_names_refseq": "LAM; PPP1R160; TSC2; TSC4", "protein_names_uniprotkb": "Tuberin; Tuberous sclerosis 2 protein", "protein_names_refseq": "protein phosphatase 1, regulatory subunit 160; tuberin isoform 9; tuberin; tuberous sclerosis 2 protein", "tax_id": 9606, "disease": "medulloblastoma (Disease Ontology:DOID:0050902); autism spectrum disorder (Disease Ontology:DOID:0060041); tuberous sclerosis 2 (Disease Ontology:DOID:0080325); Alzheimer's disease (Disease Ontology:DOID:10652); leiomyoma (Disease Ontology:DOID:127); uterine fibroid (Disease Ontology:DOID:13223); tuberous sclerosis (Disease Ontology:DOID:13515); breast cancer (Disease Ontology:DOID:1612); anxiety disorder (Disease Ontology:DOID:2030); angiomyolipoma (Disease Ontology:DOID:3314); hepatic angiomyolipoma (Disease Ontology:DOID:3317); lymphangioleiomyomatosis (Disease Ontology:DOID:3319); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); renal cell carcinoma (Disease Ontology:DOID:4450); hepatocellular carcinoma (Disease Ontology:DOID:684); isolated focal cortical dysplasia type II (MONDO:MONDO:0011818)", "pathway": " (hsa:7249); (R-HSA-1632852); (R-HSA-165181); (R-HSA-198323); (R-HSA-380972); (R-HSA-5628897); (R-HSA-5674400); (R-HSA-8854214)", "pathway_count": 8, "publication_count": 367, "publication_id_list": "10.1101/2023.09.13.557529;10069705;10102273;10202141;10205261;10329961;10358075;10485710;10490848;10533067;10570911;10585443;10607950;10716435;10732801;10735580;10745013;10823953;10980602;11018120;11029283;11034341;11096062;11231573;11237011;11274386;11290735;11340051;11486029;11504915;11545734;11715018;11825910;11829138;11959846;12150915;12161445;12172553;12203114;12244303;12271141;12438239;12453409;12524439;12582162;12668767;12714747;12767043;12805220;12820960;12842888;12867426;12869586;12906785;13298683;13538944;14511394;14517248;14614828;14617782;14651849;14985505;15024740;15105503;15169778;15183529;15187094;15223;15314020;15340059;15342917;15527798;15579580;15589136;15595939;15757502;15851026;15963462;16055087;16140933;16272144;16395330;16413492;16464865;16636147;16728594;16760263;16839880;16862180;16943194;16959574;16963840;17018601;17074750;17081983;17298220;17322306;17486094;17540029;17597835;17611497;17618624;17658474;17671177;17901050;18198340;18199687;18212344;18220336;18256540;18308511;18319245;18320306;18321988;18344994;18381890;18407068;18439900;18451215;18466115;18669648;18691976;18692468;18707149;18767875;18954143;18974095;19113821;19188143;19211835;19265534;19322194;19413330;19439913;19487573;19505958;19590496;19593385;19644473;19651622;19664994;19690332;19748539;19822145;19855179;19898463;20038548;20059746;20068231;20080666;20095038;20116244;20145209;20169078;20182617;20351271;20363736;20378837;20404108;20440266;20489726;20713597;20921139;21177865;21205641;21252047;21258367;21283628;21300751;21383079;21383122;21406692;21458671;21460621;21561859;21750704;21819378;21958598;22025163;22170151;22219378;22333157;22363791;22424782;22544926;22613832;22682742;22685542;22762500;22795129;22819219;22854040;22879939;22898188;23006675;23019362;23186163;23202584;23481700;23562278;23685627;23727157;23775793;23818547;23884233;23955302;24066844;24275569;24316235;24366874;24383451;24397554;24529379;24612393;24705102;24718924;24722188;24747438;24797175;24954904;25418920;25484072;25568151;25576301;25579166;25645385;25816988;25880248;25889895;25892735;25936802;26154972;26183061;26345496;26375851;26652033;26742086;26827808;26844273;26992070;27278822;27451907;27481935;27543614;27551480;27557496;27600516;27846572;27862975;27920218;28053105;28063628;28092373;28215400;28218747;28228285;28286738;28514659;28561026;28561066;28591720;28832583;28834231;28904123;29127155;29150487;29242379;29331515;29393594;29437277;29493099;29508533;29554968;29557506;29632046;29632711;29769354;29786170;30073169;30212583;30315122;30379171;30410026;30429286;30524438;30629673;30684133;30779550;31154438;31548312;31756944;31844290;31848261;32157095;32308763;32357974;32387766;32391118;32488085;32502341;32897882;32938616;32983136;33141586;33273660;33298915;33392160;33436626;33473107;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34932366;35051231;35154160;35318648;35494241;35561310;35580925;35772404;36010968;36139422;36215666;36241641;36284347;36476861;37217939;37914149;37938771;37949232;38212374;38412945;5666113;7558029;7628435;7979252;7989588;8119488;8269512;8549768;8779952;8789450;8824881;9045618;9302281;9346240;9381178;9463313;9478990;9580671;9812896;9829910;9829964;9831664;9895304;9926927", "class_list": "", "function": "A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway. Erratum:[Gene. 2024 Aug 15;919:148481. doi: 10.1016/j.gene.2024.148481. PMID: 38685184], [RefSeq, PubMed]; CBAP regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling. Erratum:[J Biol Chem. 2024 Feb;300(2):105686. doi: 10.1016/j.jbc.2024.105686. PMID: 38290174], [RefSeq, PubMed]; Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12172553, PubMed:12271141, PubMed:12842888, PubMed:12906785, PubMed:15340059, PubMed:22819219, PubMed:24529379, PubMed:28215400, PubMed:33436626, PubMed:35772404). Within the TSC-TBC complex, TSC2 acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 (PubMed:12172553, PubMed:12820960, PubMed:12842888, PubMed:12906785, PubMed:15340059, PubMed:22819219, PubMed:24529379, PubMed:33436626). In absence of nutrients, the TSC-TBC complex inhibits mTORC1, thereby preventing phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) by the mTORC1 signaling (PubMed:12172553, PubMed:12271141, PubMed:12842888, PubMed:12906785, PubMed:22819219, PubMed:24529379, PubMed:28215400, PubMed:35772404). The TSC-TBC complex is inactivated in response to nutrients, relieving inhibition of mTORC1 (PubMed:12172553, PubMed:24529379). Involved in microtubule-mediated protein transport via its ability to regulate mTORC1 signaling (By similarity). Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma., [RefSeq, PubMed]; The role of TSC1 and TSC2 proteins in neuronal axons. Review article, [RefSeq, PubMed]; This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 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": 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": 54, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 150, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 16, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A7E2E2;B4DIL8;B4DIQ7;B4DRN2;B7Z2B8;C9J378;O75275;Q4LE71;Q8TAZ1", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0042803 protein homodimerization activity;GO:0031267 small GTPase binding;GO:0051879 Hsp90 protein binding;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0033596 TSC1-TSC2 complex;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:1901525 negative regulation of mitophagy;GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0006897 endocytosis;GO:0007507 heart development;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 37.2, "record_id": "P49815-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRG9-1", "uniprot_id": "AAAS_HUMAN", "mass": 59574.0, "length": 546, "protein_name": "Aladin", "gene_name": "AAAS", "organism": "Human", "refseq_name": "aladin isoform 2", "refseq_ac": "NP_001166937", "gene_names_uniprotkb": "AAAS; ADRACALA; GL003", "gene_names_refseq": "AAASb; AAAS; AAA; ADRACALA; ADRACALIN; ALADIN; GL003", "protein_names_uniprotkb": "Aladin; Adracalin", "protein_names_refseq": "Allgrove, triple-A; achalasia, adrenocortical insufficiency, alacrimia; aladin isoform 2", "tax_id": 9606, "disease": "triple-A syndrome (Disease Ontology:DOID:0050602); achalasia (Disease Ontology:DOID:9164)", "pathway": " (hsa:8086); (R-HSA-1169408); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-6784531); (R-HSA-8980692); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9705671)", "pathway_count": 32, "publication_count": 632, "publication_id_list": "10037681;10205180;10228171;10232922;10323864;10444065;10489353;10490598;10523665;10523675;10526156;10526235;10531003;10556282;10574707;10579713;10601273;10601333;10619026;10668806;10699171;10725331;10759568;10827188;10846107;10851237;10862613;10873388;10920397;10954706;11014198;11058585;11062474;11073998;11085924;11095724;11112487;11118210;11124902;11157743;11159947;11207612;11231581;11237011;11256625;11259411;11259602;11289803;11333016;11373293;11396949;11431473;11432776;11451485;11455963;11502751;11514627;11579093;11606631;11672528;11680691;11689693;11704860;11709553;11714716;11727826;11739738;11747420;11748230;11756420;11788588;11792325;11804589;11804590;11836381;11871657;11884391;11889051;11909533;11912491;11932251;11960997;12003494;12019269;12027805;12032081;12065586;12071859;12072510;12093360;12093754;12095920;12121577;12138183;12149243;12195014;12196509;12221077;12221096;12228227;12393906;12441251;12525615;12526808;12531887;12582176;12589057;12650940;12692549;12711671;12729736;12747803;12759408;12776181;12802065;12832072;12853476;12857875;12857923;12877655;12917326;12974469;14512443;14516784;14578449;14627435;14701874;15023524;15064355;15082759;15107133;15109492;15120988;15131269;15161980;15175327;15199155;15208624;15302923;1531330;15317868;15342493;15355988;15364926;15378033;15485661;15485925;15574331;15592428;15601624;15608651;15611138;15702989;15731250;15802566;15823533;15829507;15831457;15850391;15866170;1586970;15931174;15940266;15959518;15989970;16009940;16022285;16030353;16112081;16112642;16116428;16122702;16139798;16140760;16184169;16194093;16217026;16278218;16314397;16352599;16361254;16407192;16428300;16467373;16478998;16519628;16608850;16608852;16626738;16630611;16688858;16699525;16710424;16715065;16775314;16776779;16777452;16777849;16810316;16815975;16862148;16872604;16896804;16914094;16914516;16933365;17000901;17018294;17077126;17081640;17081983;17132145;17183683;17204286;17224653;17289916;17317185;17376915;17412958;1754405;17562871;17690096;17693435;17698605;17702745;17705785;17765681;17804252;17932950;17942708;17976533;18158243;18203656;18218625;18226598;18235501;18235502;18287095;18305167;18364396;18381449;18394993;18408014;18411249;18423201;18535146;18550409;18583345;18625722;18628979;18669648;18691969;18691976;18708356;18809514;18829452;18946085;18984158;19007248;19073728;19125153;19229036;19270716;19287951;19413330;1944575;19494120;19494238;19596686;19605563;19622798;19635168;19640981;19673492;19682613;19691289;19706679;19713215;19748539;19779455;19782045;1985200;19914676;19956565;20016594;20016603;20030946;20068231;20098713;20101212;20129943;20133869;2017161;2017166;20190268;20219937;20300531;20308324;20351170;20385878;20400958;20417598;20591975;20628200;20630994;20660154;20663916;20705237;20797632;20797634;20953181;20972456;21098080;21147198;21148482;21167178;21284855;21311021;21335236;21351730;21450806;21454492;21550342;21554500;21559454;21565175;21593607;21647297;21690215;21699497;21865595;21936715;22009320;22096251;22174689;22223895;22298643;22305756;22402492;22457066;22464730;22465953;22493095;22508508;22541429;22635276;22661230;22673745;22732409;22735644;22751501;22825850;22893130;22911862;22940245;22941947;22944664;22992742;23092970;23200924;23255595;23299939;23301498;23349863;23434736;23481700;23572525;23582887;23750026;23804756;23826332;23870313;23871147;24002598;24027577;24068740;24086303;24128008;24259668;24275569;24335996;24352656;24369422;2470644;24715725;24782567;24870230;24933155;25114211;25211221;25218447;25391492;25418920;25505266;25576301;25640237;25645385;25704760;25704882;25723178;25849199;25892735;26154972;26246606;26371245;26375851;26529257;26572645;26758079;26811146;26887924;26929215;26992070;27068747;27145964;27216196;27481945;27501258;27600516;27754849;27846572;27920218;27986909;28112683;28196833;28218747;28228285;28415052;28514659;28584191;28832583;28834231;28904123;29146911;29242379;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29874194;30315122;30355688;30360396;30381913;30410026;30524438;30761409;30779550;30833945;31071487;31105010;31154438;31222486;31530632;31844290;31848261;31850239;31871319;31937595;31998317;32157095;32203420;32350084;32353859;32357974;32387766;32428392;32488085;32502341;32589897;32700293;32726803;32728199;32897882;32938616;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33141586;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33465208;33479219;33495715;33514628;33537174;33567255;33592498;33633747;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33981976;33989516;33990585;34019948;34021074;34054808;34084167;34087483;34110168;34166398;34171305;34185709;34211107;34239064;34290717;34341353;34357683;34375313;34400613;34405274;34439781;34452305;34471099;34502139;34509645;34561969;34597346;34932366;35051231;35102342;35154160;35318648;35561310;35580925;35643212;36010968;36215666;36241641;36284347;37051252;37938771;38665916;39003500;39894887;40596516;40914422;6261960;6930639;7479768;7559393;7585962;7673236;7721814;7753201;7759547;7769657;7828588;7878053;7958838;8021274;8113738;8196654;8313914;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8721986;8756646;8769096;8805303;8807639;8810315;8816443;8939998;8946918;9013646;9092824;9111050;9113980;9305631;9305890;9405152;9412458;9418861;9436978;9452416;9490638;9497316;9512417;9525617;9535835;9548756;9582382;9618489;9651582;9659915;9660920;9660949;9670022;9755184;9756909;9792683;9822605;9829970;9837918;9845364;9873016;9885291;9920933", "class_list": "", "function": "A homozygous deletion of the entire AAAS gene was identified in a patient with triple A syndrome., [RefSeq, PubMed]; AAAS mutations were identified in two families with hereditary spastic paraplegia., [RefSeq, PubMed]; Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome., [RefSeq, PubMed]; Mutation in AAAS gene is associated with triple A syndrome., [RefSeq, PubMed]; Plays a role in the normal development of the peripheral and central nervous system (PubMed:11062474, PubMed:11159947, PubMed:16022285). Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein NUMA1 as well as a subset of AURKA targets which ensures proper spindle formation and timely chromosome alignment (PubMed:26246606)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Plays a role in the normal development of the peripheral and central nervous system. Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein NUMA1 as well as a subset of AURKA targets which ensures proper spindle formation and timely chromosome alignment., [UniProtKB, UniProtKB]; The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]., [RefSeq]; Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "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": "Q5JB47;Q9NWI6;Q9UG19", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006913 nucleocytoplasmic transport;GO:0015031 protein transport;GO:0046822 regulation of nucleocytoplasmic transport;GO:0090307 mitotic spindle assembly;GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 63.6, "record_id": "Q9NRG9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NSC5-1", "uniprot_id": "HOME3_HUMAN", "mass": 39836.0, "length": 361, "protein_name": "Homer protein homolog 3", "gene_name": "HOMER3", "organism": "Human", "refseq_name": "homer protein homolog 3 isoform 2", "refseq_ac": "NP_001139193", "gene_names_uniprotkb": "HOMER3", "gene_names_refseq": "HOMER-3; HOMER3; VESL3", "protein_names_uniprotkb": "Homer protein homolog 3; Homer-3", "protein_names_refseq": "Homer, neuronal immediate early gene, 3; homer homolog 3; homer protein homolog 3 isoform 2; homer protein homolog 3; homer scaffolding protein 3", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:9454); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10653696;11237011;11604393;12815733;14645007;15540461;16242404;16624946;16846852;17897391;18212344;18218901;18480293;18669648;18812509;18829961;19345194;20064387;20064388;20519524;21282647;25378172;26992070;28904123;29557506;30429286;31844290;31848261;32157095;32387766;32897882;32938616;33392160;33968037;34087483;34108014;34171305;34509645;35051231;35580925;36010968;38266459;7695896;7736595;8576240;9069287;9808458;9927700", "class_list": "", "function": "Glycoproteomics identifies HOMER3 as a potentially targetable biomarker triggered by hypoxia and glucose deprivation in bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; HOMER3 promotes liver hepatocellular carcinoma cancer progression by -upregulating EZH2 and mediating miR-361/GPNMB axis., [RefSeq, PubMed]; Homer-3 may be involved in the regulation of SRE activation in T cells via interaction between its EVH1 domain and C/EBP beta., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses. Negatively regulates T cell activation by inhibiting the calcineurin-NFAT pathway. Acts by competing with calcineurin/PPP3CA for NFAT protein binding, hence preventing NFAT activation by PPP3CA (PubMed:18218901)., [UniProtKB, PubMed]; This gene encodes a member of the HOMER family of postsynaptic density scaffolding proteins that share a similar domain structure consisting of an N-terminal Enabled/vasodilator-stimulated phosphoprotein homology 1 domain which mediates protein-protein interactions, and a carboxy-terminal coiled-coil domain and two leucine zipper motifs that are involved in self-oligomerization. The encoded protein binds numerous other proteins including group I metabotropic glutamate receptors, inositol 1,4,5-trisphosphate receptors and amyloid precursor proteins and has been implicated in diverse biological functions such as neuronal signaling, T-cell activation and trafficking of amyloid beta peptides. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 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": "B2RA10;E9PCW9;O14580;O95350;Q9NSB9;Q9NSC0;Q9NSC1", "ec_number_list": "", "go_molecular_function": "GO:0035256 G protein-coupled glutamate receptor binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0014069 postsynaptic density", "go_biological_process": "GO:0032703 negative regulation of interleukin-2 production;GO:0006605 protein targeting;GO:0070885 negative regulation of calcineurin-NFAT signaling cascade;GO:0051966 regulation of synaptic transmission, glutamatergic;GO:2001256 regulation of store-operated calcium entry", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9NSC5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZVK8-1", "uniprot_id": "NUD18_HUMAN", "mass": 35501.0, "length": 323, "protein_name": "8-oxo-dGDP phosphatase NUDT18", "gene_name": "NUDT18", "organism": "Human", "refseq_name": "8-oxo-dGDP phosphatase NUDT18", "refseq_ac": "NP_079091", "gene_names_uniprotkb": "NUDT18; MTH3", "gene_names_refseq": "MTH3; NUDT18", "protein_names_uniprotkb": "8-oxo-dGDP phosphatase NUDT18; 2-hydroxy-dADP phosphatase; 3.6.1.58; 3.6.1.68; 3.6.1.76; 7,8-dihydro-8-oxoguanine phosphatase; MutT homolog 3; Nucleoside diphosphate-linked moiety X motif 18; Nudix motif 18", "protein_names_refseq": "2-hydroxy-dADP phosphatase; 7,8-dihydro-8-oxoguanine phosphatase; 8-oxo-dGDP phosphatase NUDT18; mutT homolog 3; mutT human homolog 3; nucleoside diphosphate-linked moiety X motif 18; nudix (nucleoside diphosphate linked moiety X)-type motif 18; nudix motif 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:79873)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;22556419;24352381;28218747;29557506;30410026;31844290;32938616;34087483;36581221;38944687", "class_list": "", "function": "MTH3 is specifically active against 8-oxo-dGDP and hardly cleaves 8-oxo-dGTP. Other types of oxidized nucleoside diphosphates, 2-hydroxy-dADP and 8-hydroxy-dADP, were also hydrolyzed by MTH3., [RefSeq, PubMed]; Mediates the hydrolysis of oxidized nucleoside diphosphate derivatives. Hydrolyzes 8-oxo-7,8-dihydroguanine (8-oxo-Gua)-containing deoxyribo- and ribonucleoside diphosphates to the monophosphates. Hydrolyzes 8-oxo-dGDP and 8-oxo-GDP with the same efficiencies. Also hydrolyzes 8-OH-dADP and 2-OH-dADP. Exhibited no or minimal hydrolysis activity against 8-oxo-dGTP, 8-oxo-GTP, dGTP, GTP, dGDP and GDP. Probably removes oxidized guanine nucleotides from both the DNA and RNA precursor pools. In vitro, it catalyzes the hydrolysis of isoprene pyrophosphates, including (2E)-geranyl diphosphate, isopentenyl diphosphate, (2E,6E)-farnesyl diphosphate and dimethylallyl diphosphate (PubMed:38944687). It may therefore play a role in the control of cellular levels of these metabolites that are essential for multiple cellular processes, including isoprenoids synthesis and protein isoprenylation (Probable)., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This protein contains a Nudix hydrolase domain and hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8IZ75;Q9H687", "ec_number_list": "3.6.1.58;3.6.1.68;3.6.1.76;3.6.1.-;3.1.3.-;3.6.1.9;3.6.1.13;2.7.7.96", "go_molecular_function": "GO:0044715 8-oxo-dGDP phosphatase activity;GO:0044716 8-oxo-GDP phosphatase activity;GO:0044717 8-hydroxy-dADP phosphatase activity;GO:0046872 metal ion binding;GO:0106405 isoprenoid diphosphate phosphatase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0046057 dADP catabolic process;GO:0046067 dGDP catabolic process;GO:0046712 GDP catabolic process;GO:0055086 nucleobase-containing small molecule metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6ZVK8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQQ3-1", "uniprot_id": "GORS1_HUMAN", "mass": 46482.0, "length": 440, "protein_name": "Golgi reassembly-stacking protein 1", "gene_name": "GORASP1", "organism": "Human", "refseq_name": "Golgi reassembly-stacking protein 1 isoform 2", "refseq_ac": "NP_001265718", "gene_names_uniprotkb": "GORASP1; GOLPH5; GRASP65", "gene_names_refseq": "GOLPH5; GORASP1; GRASP65; P65", "protein_names_uniprotkb": "Golgi reassembly-stacking protein 1; GOLPH5; GRASP65; Golgi peripheral membrane protein p65; Golgi phosphoprotein 5; Golgi reassembly-stacking protein of 65 kDa", "protein_names_refseq": "Golgi peripheral membrane protein p65; Golgi phosphoprotein 5; Golgi reassembly and stacking protein 1; Golgi reassembly-stacking protein 1 isoform 2; Golgi reassembly-stacking protein 1; golgi reassembly stacking protein 1, 65kDa; golgi reassembly-stacking protein of 65 kDa", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:64689); (R-HSA-162658); (R-HSA-204005); (R-HSA-6807878)", "pathway_count": 4, "publication_count": 196, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10747087;10761932;10788476;10825291;10903204;10921873;10982397;11035026;11035033;11172815;11237011;11238451;11285137;11306556;11408587;11447294;11461920;11689559;11703931;11726511;11739401;11748249;11781572;11927603;12047556;12070132;12235121;12388752;12634853;12695496;12839990;14654841;14742712;15037235;15616190;15632110;15678101;15728195;15813748;15834132;15878873;16030262;16303754;1631136;16489344;16495487;16533948;16624868;16633337;16723730;1680566;16912714;16926190;16940185;17005010;17038314;17182854;17192411;17253781;17274799;17287728;17316621;17360540;17429068;17451557;17562788;17684057;17760859;17927562;17956946;18086915;18167358;18182008;18283113;18385516;18434598;18524849;18669648;18691976;18809720;18843296;1898986;19015319;1902553;19109418;19164740;19296914;19369195;1957170;19631211;19638414;19651986;19656848;19690332;19758564;20068231;20083603;20214750;20357002;20427317;20545907;20637885;20679433;20937827;20966969;21219331;21478858;21532587;21689688;21844168;21884936;22013193;22094269;22157747;22304919;22675024;22726585;23378591;23479643;23481700;23698585;23839779;23864707;24119662;24806965;24917561;25202031;25406594;25418920;25436559;25492864;25586378;25619252;26154972;26363069;26811146;26929215;26992070;27862975;28218747;28228285;28832583;29393594;29437277;29557506;29632046;29786170;30524438;31844290;32387766;32502341;32897882;32938616;33301566;33592498;33691108;35051231;35312866;35580925;36010968;7691276;7737117;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8663406;8991093;9094723;9114004;9150144;9177194;9244307;9288971;9307973;9323141;9346242;9380700;9382863;9405360;9490716;9628863;9647643;9671725;9751720;9753325;9990005", "class_list": "", "function": "A study showing that GRASP65 binds directly to the coiled-coil vesicle tethering factor GM130, and targets it to Golgi membranes., [RefSeq, PubMed]; GRASP depletion-mediated Golgi fragmentation impairs glycosaminoglycan synthesis, sulfation, and secretion. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of GRASP65, and demonstration that it functions in the formation of stacked Golgi cisternae., [RefSeq, PubMed]; Key structural protein of the Golgi apparatus (PubMed:33301566). The membrane cisternae of the Golgi apparatus adhere to each other to form stacks, which are aligned side by side to form the Golgi ribbon (PubMed:33301566). Acting in concert with GORASP2/GRASP55, is required for the formation and maintenance of the Golgi ribbon, and may be dispensable for the formation of stacks (PubMed:33301566). However, other studies suggest that GORASP1 plays an important role in assembly and membrane stacking of the cisternae, and in the reassembly of Golgi stacks after breakdown during mitosis (By similarity). Caspase-mediated cleavage of GORASP1 is required for fragmentation of the Golgi during apoptosis (By similarity). Also mediates, via its interaction with GOLGA2/GM130, the docking of transport vesicles with the Golgi membranes (PubMed:16489344). Mediates ER stress-induced unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane (PubMed:21884936)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Rapid degradation of GRASP55 and GRASP65 reveals their immediate impact on the Golgi structure., [RefSeq, PubMed]; The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a membrane protein involved in establishing the stacked structure of the Golgi apparatus. It is a caspase-3 substrate, and cleavage of this encoded protein contributes to Golgi fragmentation in apoptosis. This encoded protein can form a complex with the Golgi matrix protein GOLGA2, and this complex binds to the vesicle docking protein p115. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 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": 14, "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": "B3KWC8;Q3SYG7;Q8N272;Q96H42", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane;GO:0005801 cis-Golgi network", "go_biological_process": "GO:0015031 protein transport;GO:0050774 negative regulation of dendrite morphogenesis;GO:0090161 Golgi ribbon formation;GO:0007030 Golgi organization;GO:0061951 establishment of protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 19.7, "record_id": "Q9BQQ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P62258-1", "uniprot_id": "1433E_HUMAN", "mass": 29174.0, "length": 255, "protein_name": "14-3-3 protein epsilon", "gene_name": "YWHAE", "organism": "Human", "refseq_name": "14-3-3 protein epsilon", "refseq_ac": "NP_006752", "gene_names_uniprotkb": "YWHAE", "gene_names_refseq": "14-3-3E; HEL2; KCIP-1; MDCR; MDS; YWHAE", "protein_names_uniprotkb": "14-3-3 protein epsilon; 14-3-3E", "protein_names_refseq": "14-3-3 epsilon; 14-3-3 protein epsilon; epididymis luminal protein 2; mitochondrial import stimulation factor L subunit; protein kinase C inhibitor protein-1; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide; tyrosine 3/tryptophan 5 -monooxygenase activation protein, epsilon polypeptide", "tax_id": 9606, "disease": "Miller-Dieker lissencephaly syndrome (Disease Ontology:DOID:0060469); left ventricular noncompaction (Disease Ontology:DOID:0060480)", "pathway": " (hsa:7531); (R-HSA-111447); (R-HSA-1445148); (R-HSA-2028269); (R-HSA-205025); (R-HSA-2565942); (R-HSA-3371453); (R-HSA-3371511); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-5625740); (R-HSA-5628897); (R-HSA-75035); (R-HSA-8854518); (R-HSA-8862803); (R-HSA-8876198); (R-HSA-9735871); (R-HSA-9755779); (R-HSA-9856649)", "pathway_count": 22, "publication_count": 589, "publication_id_list": "10.1101/2023.09.13.557529;10195903;10329961;10330186;10409742;10435585;10567402;10604467;10611221;10619026;10639123;10644344;10655586;10673502;10716435;10745013;10753910;10764727;10818110;10830966;10924361;10949026;10954706;10980602;10990452;11027551;11029283;11034341;11038176;11076968;11118213;11134534;11179213;11237011;11278283;11278287;11313932;11331307;11340051;11427721;11486029;11516400;11545734;11689439;11697890;11703925;11746448;11747420;11784320;11830582;11840323;11853546;11891324;11912130;11917121;11930005;11942626;11956313;11959846;12042314;12058051;12161445;12203114;12207013;12221128;12221131;12244319;12364329;12364337;12427552;12438239;12453409;12475894;12657644;12665801;12684051;12714747;12766774;12783890;12852856;12853476;12869586;12906785;12917326;12944476;12972505;12974469;13298683;13538944;13678582;14514689;14580337;14651849;14654843;14975237;15003508;15096524;15105503;15109305;15118077;15138286;1516130;15184667;15223;15226305;15247254;15364926;15388334;15498487;15507434;15528189;15561770;15589136;15590058;15660102;15688006;15692570;15696159;15702990;15705883;15722337;15791647;15802566;1586970;15878329;15914536;15919790;15958533;15971998;16014379;16034366;16103198;16140933;16207721;16278218;16357211;16373702;16376338;16410077;16413492;16462731;16525024;16525121;16571673;16636147;16641372;16728594;16754960;16760263;16822840;16839880;16880201;16880209;16890155;16930133;16950109;1698554;16998888;17043139;17081065;17085597;17132146;17189207;17208202;17239822;17287728;17298220;17301291;17306213;17369524;1748288;17486094;17488286;17540029;1754405;17562788;17574030;17623675;17646400;17671165;17678623;17719545;17785525;17947532;17974916;17995453;18006505;18029012;18037885;18055455;18076383;18094055;18158288;18198340;18227151;18235501;18235502;18318008;18328708;18344994;18354496;18367545;18378770;18452278;1845915;18477460;18477474;18521620;18550409;18559336;18566290;18585354;18615013;18644867;18664496;18691386;18692468;18694559;18701652;18779367;18801063;18804435;1900457;19004860;19013499;19081074;19109890;19113821;19172738;19229036;19252894;19345684;19403694;19413330;19439913;19487573;19490898;19524539;19592491;19608861;19620288;19640509;19651622;19656848;19664994;19723632;19725050;19729655;19745841;19822145;19914676;19940019;20008558;20058876;20068231;20080666;20154085;20154091;20159109;20159556;20166139;20182617;20230748;2026444;20305638;20308558;20351271;20378837;20399632;20404108;20412773;20417184;20434987;20460180;20478047;20558667;20592283;20631154;20701589;20797862;20837646;20850437;20851765;20868367;20937701;21041651;2115402;21183348;21187284;21187289;21189250;21205866;21216617;21224387;21233212;21273506;21330364;21347367;21351730;21406692;21421921;21422230;21445324;21454505;21454690;21458671;21486943;21532587;21548880;21554507;21555462;21565611;21586568;21620453;21683469;21706022;21718402;21725307;21749319;21750704;21776405;21792235;21832154;21907143;21951725;21958598;21965087;22013193;22065758;22072793;22094468;22171327;22179047;22363791;22365832;22433857;22465953;22511774;22541429;22581368;22595670;22607805;22622570;22641346;22647378;22648168;22653444;22705394;22735644;22762500;22899714;22908308;22940245;22983554;23084991;23091056;23141531;23141541;23147242;23159739;23176487;23176493;23186163;23190890;23207919;23220125;23239882;23247405;23253480;23263280;23295650;23333653;23348840;23349863;23351085;23357852;23378591;23400999;23420520;23444368;23478338;23530209;23572552;23645161;23678941;23684622;23713133;23747070;23769972;23775793;23789104;23839779;23921553;24053599;24066844;24089205;24128008;24231678;24275569;24296415;24366874;24383451;24469809;24644286;24694596;24715725;24718924;24719330;24891604;24917561;24967941;24982133;25047611;25074980;25248477;25271362;25313408;25341920;25343031;25472813;25502872;2550440;25532896;25576301;25579166;25588844;25595898;25645385;25648148;25713415;25880248;25925668;26047703;26055712;26177209;26245486;26434594;26538022;26652033;26811146;26925400;26936971;26992070;27030597;27041585;27044746;27103185;27128622;27246931;27329675;27862975;27920218;28218747;28228285;28394346;28467828;28832583;28904123;29242379;29295999;29317506;29393594;29493099;29557506;29632711;29769719;30315122;30429286;30573663;30611118;30626607;30779550;30804224;31020640;31154438;31217245;31530632;31844290;31848261;32119511;32157095;32329246;32350084;32357974;32387766;32488085;32502341;32636443;32938616;32983136;33147444;33214551;33298915;33402344;33556408;33592498;33717175;33744299;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34140478;34171305;34357683;34433824;34509645;34513728;34725712;34932366;35051231;35083852;35126886;35138101;35154160;35251023;35343654;35580925;36010968;36215666;36241641;36284347;37074911;37217939;37555661;37599448;37770430;37938771;38363382;38665916;38750908;40914422;5338216;5666113;7585962;7644510;7688123;7698360;7769006;7790358;7911226;7958932;7979252;7989588;8065924;8094051;8119488;8144603;8336698;8408203;8455624;8522602;8662509;8664345;8684458;8702870;8721986;8838651;8858348;8863739;8946918;9020086;9020161;9030515;9136770;9199364;9228946;9278512;9305631;9323142;9353119;9354661;9440696;9545236;9560246;9590177;9676189;9727490;9733780;9760192;9873016;9889122;9920933;9926927;9973413;9988689", "class_list": "", "function": "14-3-3epsilon/YWHAE regulates the transcriptional expression of cardiac sodium channel NaV1.5., [RefSeq, PubMed]; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways (PubMed:21189250). Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif (PubMed:35343654). Binding generally results in the modulation of the activity of the binding partner (By similarity). Positively regulates phosphorylated protein HSF1 nuclear export to the cytoplasm (PubMed:12917326). Plays a positive role in the antiviral signaling pathway upstream of TBK1 via interaction with RIGI (PubMed:37555661). Mechanistically, directs RIGI redistribution from the cytosol to mitochondrial associated membranes where it mediates MAVS-dependent innate immune signaling during viral infection (PubMed:22607805). Plays a role in proliferation inhibition and cell cycle arrest by exporting HNRNPC from the nucleus to the cytoplasm to be degraded by ubiquitination (PubMed:37599448)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The novel miR-873-5p-YWHAE-PI3K/AKT axis is involved in non-small cell lung cancer progression and chemoresistance by mediating autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 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": 12, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KY71;D3DTH5;P29360;P42655;Q4VJB6;Q53XZ5;Q63631;Q7M4R4", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0019899 enzyme binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0000165 MAPK cascade;GO:0003064 regulation of heart rate by hormone", "synthesized_glycan_count": 0, "hit_score": 60.8, "record_id": "P62258-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14727-1", "uniprot_id": "APAF_HUMAN", "mass": 141840.0, "length": 1248, "protein_name": "Apoptotic protease-activating factor 1", "gene_name": "APAF1", "organism": "Human", "refseq_name": "apoptotic protease-activating factor 1 isoform b", "refseq_ac": "NP_001151", "gene_names_uniprotkb": "APAF1; KIAA0413", "gene_names_refseq": "APAF-1; APAF1; CED4", "protein_names_uniprotkb": "Apoptotic protease-activating factor 1; APAF-1", "protein_names_refseq": "apoptotic protease-activating factor 1 isoform b; apoptotic protease-activating factor 1", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); pancreatic cancer (Disease Ontology:DOID:1793); colon cancer (Disease Ontology:DOID:219); brain ischemia (Disease Ontology:DOID:2316); Noonan syndrome (Disease Ontology:DOID:3490); middle cerebral artery infarction (Disease Ontology:DOID:3525); lung non-small cell carcinoma (Disease Ontology:DOID:3908); muscular atrophy (Disease Ontology:DOID:767)", "pathway": " (hsa:317); (R-HSA-111458); (R-HSA-111459); (R-HSA-111463); (R-HSA-111464); (R-HSA-6798695); (R-HSA-6803207); (R-HSA-8953750); (R-HSA-9627069)", "pathway_count": 9, "publication_count": 136, "publication_id_list": "10206961;10364241;10393175;10441496;10543941;10578182;10929711;10949025;10972280;10973264;11084335;11140638;11171983;11237011;11242052;11257231;11278253;11389439;11390368;11408476;11559530;11701129;11717445;11734640;11752425;12004135;12089322;12198154;12620238;12660240;12804598;12824163;12874265;12909625;12941691;1373520;14688482;14960576;15014447;15073321;15262985;15271982;15536069;15580302;16135520;16183742;16916640;17001316;17081983;17244527;17284521;17600109;18083711;18562691;18619610;20068231;20303873;21371431;21596310;22246185;22645359;22854598;23481700;23521171;23650375;23650620;23703390;23954429;24367089;24627085;24715725;25313070;25418920;25528640;25716227;26024233;26154972;26992070;27697150;28192157;28904123;29437277;29493099;29511177;29557506;30315122;30379171;30429286;30779550;31154438;31217245;31498791;31530632;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33912179;33968037;33981976;34171305;34509645;34898374;34932366;35030371;35051231;35561310;35580925;35975461;36010968;36284347;37108258;38348717;7623816;8242741;8692836;9230442;9267021;9390557;9501179;9651578;9689056;9704927;9922454", "class_list": "", "function": "APAF1-Binding Long Noncoding RNA Promotes Tumor Growth and Multidrug Resistance in Gastric Cancer by Blocking Apoptosome Assembly., [RefSeq, PubMed]; Apoptotic protease activating factor-1 gene and MicroRNA-484: A possible interplay in relapsing remitting multiple sclerosis., [RefSeq, PubMed]; Exosomal circ_0037104 derived from Hu-MSCs inhibits cholangiocarcinoma progression by sponging miR-620 and targeting AFAP1., [RefSeq, PubMed]; Exosomal microRNA rectangle93 rectangle3p secreted by bone marrow mesenchymal stem cells downregulates apoptotic peptidase activating factor 1 to promote wound healing., [RefSeq, PubMed]; Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP. Isoform 6 is less effective in inducing apoptosis., [UniProtKB, PubMed, PubMed]; This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of APAF1 and CSF1R in Peripheral Blood Mononuclear Cells of Parkinson's 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": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RMX8;O43297;Q7Z438;Q9BXZ6;Q9UBZ5;Q9UGN8;Q9UGN9;Q9UGP0;Q9UJ58;Q9UJ59;Q9UJ60;Q9UJ61;Q9UJ62;Q9UJ63;Q9UJ64;Q9UJ65;Q9UJ66;Q9UJ67;Q9UNC9", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0000166 nucleotide binding;GO:0031072 heat shock protein binding;GO:0043531 ADP binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005829 cytosol;GO:0034774 secretory granule lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007399 nervous system development;GO:0007584 response to nutrient;GO:0030154 cell differentiation;GO:0043065 positive regulation of apoptotic process;GO:0001666 response to hypoxia", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "O14727-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92997-1", "uniprot_id": "DVL3_HUMAN", "mass": 78055.0, "length": 716, "protein_name": "Segment polarity protein dishevelled homolog DVL-3", "gene_name": "DVL3", "organism": "Human", "refseq_name": "segment polarity protein dishevelled homolog DVL-3", "refseq_ac": "NP_004414", "gene_names_uniprotkb": "DVL3; KIAA0208", "gene_names_refseq": "DRS3; DVL3", "protein_names_uniprotkb": "Segment polarity protein dishevelled homolog DVL-3; DSH homolog 3; Dishevelled-3", "protein_names_refseq": "dishevelled 3 (homologous to Drosophila dsh); dishevelled, dsh homolog 3; segment polarity protein dishevelled homolog DVL-3", "tax_id": 9606, "disease": "autosomal dominant Robinow syndrome 3 (Disease Ontology:DOID:0060767); urinary bladder cancer (Disease Ontology:DOID:11054); neurodegenerative disease (Disease Ontology:DOID:1289); lung cancer (Disease Ontology:DOID:1324); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); pancreatic endocrine carcinoma (Disease Ontology:DOID:1798); melanoma (Disease Ontology:DOID:1909); colon adenocarcinoma (Disease Ontology:DOID:234); cervix carcinoma (Disease Ontology:DOID:2893); granulosa cell tumor (Disease Ontology:DOID:2999); glioblastoma (Disease Ontology:DOID:3068); oligodendroglioma (Disease Ontology:DOID:3181); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); cholangiocarcinoma (Disease Ontology:DOID:4947); gastrinoma (Disease Ontology:DOID:5577); retinoblastoma (Disease Ontology:DOID:768)", "pathway": " (hsa:1857); (R-HSA-201681); (R-HSA-201688); (R-HSA-4086400); (R-HSA-4641258); (R-HSA-4641262); (R-HSA-5368598); (R-HSA-5663220); (R-HSA-9673324)", "pathway_count": 9, "publication_count": 254, "publication_id_list": "10198061;10421629;10428961;10481074;10517632;10535959;10581160;10600384;10678165;10684251;10698523;10698942;10862746;10871633;10944533;10958683;11029007;11101902;11237011;11336703;11357136;11358862;11425858;11448771;11493532;11707456;11738041;11751577;11779461;11818547;11861647;11970895;12015986;12097334;12134165;12205098;12223464;12429848;12533515;12554650;12556519;12577064;12716910;12732141;12805219;12805222;12839624;14636582;14684739;14731402;14750955;14981260;15006353;15073180;15084453;15085137;15108311;15143170;15169958;15208637;15454084;15459103;15501440;15507212;15608632;15677333;15681612;15864301;15866170;15936275;15944396;16082208;16116452;16280981;16292343;16329988;16341016;16341017;16439214;16446366;16495441;16547521;16554443;16602827;16622419;16622420;16636067;16723543;16762923;16890161;16943183;16959974;16965538;16971168;17021034;17030981;17129783;17130287;17143292;17198702;17234765;17318175;1737036;17373907;17433286;17529994;17569865;17627283;18001770;18077588;18097444;18162551;18215320;18256687;18339531;18347018;18362152;18423204;18606139;18669648;18719708;18772438;18793328;18798527;18923426;19000841;19061640;19107203;19350017;19365405;19523939;19530173;19561074;19589360;19619488;19802005;19815554;20004982;20006983;20030946;20101212;20227366;20457807;20591975;20803696;20940229;21031079;21148482;21183070;21183076;21252990;21285348;21316585;21383061;21397845;21406692;21422228;21576392;21868368;21875946;22000856;22014570;22094460;22275430;22411803;22608513;22612246;22643886;22653731;22773843;22790947;22863007;23074275;23109420;23140633;23144463;23150776;23186163;23222643;23256519;23396967;23791946;23801653;23821037;24275569;24714562;24865425;24914801;25418920;25557784;25576301;25805136;25892735;26924530;26992070;27846572;27862975;27920218;28228285;28455968;28832583;28834231;28904123;29242379;29351928;29557506;30315122;30379171;30524438;30779550;31092671;31217245;31222486;31530632;31844290;31870452;32161166;32265295;32387766;32897882;32938616;32983136;33298915;33912179;33936100;33968037;33981976;34561969;35051231;35318648;35580925;36010968;36241641;36614043;37147666;38253038;38583012;39094673;7744250;8817329;8947551;9034327;9135132;9192851;9214626;9344861;9391096;9482734;9501980;9520479;9635432;9649308;9674432;9716412", "class_list": "", "function": "Disheveled3 enhanced EMT and cancer stem-like cells properties via Wnt/beta-catenin/c-Myc/SOX2 pathway in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Dishevelled Segment Polarity Protein 3 (DVL3) Induced by Bacterial LPS Promotes the Proliferation and Migration of Prostate Cancer Cells through the TLR4 Pathway., [RefSeq, PubMed]; Involved in the signal transduction pathway mediated by multiple Wnt genes., [UniProtKB, UniProtKB]; RNA-Binding Protein MEX3A Interacting with DVL3 Stabilizes Wnt/beta-Catenin Signaling in Endometrial Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008]., [RefSeq]; WNT5B promotes the malignant phenotype of non-small cell lung cancer via the FZD3-DVL3-RAC1-PCP-JNK 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": 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": 3, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 18, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4E3E5;D3DNT0;O14642;Q13531;Q8N5E9;Q92607", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0005102 signaling receptor binding;GO:0005109 frizzled binding;GO:0031267 small GTPase binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0000785 chromatin;GO:0005737 cytoplasm", "go_biological_process": "GO:0032956 regulation of actin cytoskeleton organization;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0046330 positive regulation of JNK cascade;GO:0032880 regulation of protein localization;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 26.2, "record_id": "Q92997-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94921-1", "uniprot_id": "CDK14_HUMAN", "mass": 53057.0, "length": 469, "protein_name": "Cyclin-dependent kinase 14", "gene_name": "CDK14", "organism": "Human", "refseq_name": "cyclin-dependent kinase 14 isoform a", "refseq_ac": "NP_001274064", "gene_names_uniprotkb": "CDK14; KIAA0834; PFTK1", "gene_names_refseq": "CDK14; PFTAIRE1; PFTK1", "protein_names_uniprotkb": "Cyclin-dependent kinase 14; 2.7.11.22; Cell division protein kinase 14; Serine/threonine-protein kinase PFTAIRE-1; hPFTAIRE1", "protein_names_refseq": "PFTAIRE protein kinase 1; cell division protein kinase 14; cyclin-dependent kinase 14 isoform a; serine/threonine-protein kinase PFTAIRE-1", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); lissencephaly 7 with cerebellar hypoplasia (Disease Ontology:DOID:0112231)", "pathway": " (hsa:5218)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;11313143;12098780;16461467;16775625;17344846;17517622;18691976;19369195;19524571;20059949;23186163;24714562;24715725;25548167;25576301;25645385;26154972;26375851;26992070;27600516;27821587;27846572;27920218;28228285;28649982;28832583;28834231;28855257;29242379;29557506;29786170;30315122;30429286;31217245;31530632;31844290;31848261;32157095;32357974;32387766;32938616;32983136;33298915;33392160;33717175;34561969;35561310;36010968;36241641;36284347;37599359;38575601;39414635", "class_list": "", "function": "Genetic and pharmacological reduction of CDK14 mitigates synucleinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; N6-methyladenosine-modified circCDK14 promotes ossification of the ligamentum flavum via epigenetic modulation by targeting AFF4. Publication Status: Online-Only, [RefSeq, PubMed]; P300/SP1 complex mediating elevated METTL1 regulates CDK14 mRNA stability via internal m7G modification in CRPC. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase involved in the control of the eukaryotic cell cycle, whose activity is controlled by an associated cyclin. Acts as a cell-cycle regulator of Wnt signaling pathway during G2/M phase by mediating the phosphorylation of LRP6 at 'Ser-1490', leading to the activation of the Wnt signaling pathway. Acts as a regulator of cell cycle progression and cell proliferation via its interaction with CCDN3. Phosphorylates RB1 in vitro, however the relevance of such result remains to be confirmed in vivo. May also play a role in meiosis, neuron differentiation and may indirectly act as a negative regulator of insulin-responsive glucose transport., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A4D1E6;A6NK51;A8WFP6;B4DHG5;B4DNM2;Q75N06;Q75N22;Q8N764;Q9H3D7;Q9UDR0", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0005524 ATP binding;GO:0004693 cyclin-dependent protein serine/threonine kinase activity;GO:0030332 cyclin binding;GO:0106310 protein serine kinase activity;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0051301 cell division;GO:0000086 G2/M transition of mitotic cell cycle;GO:0016055 Wnt signaling pathway;GO:0060828 regulation of canonical Wnt signaling pathway;GO:1901987 regulation of cell cycle phase transition", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "O94921-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P50747-1", "uniprot_id": "BPL1_HUMAN", "mass": 80760.0, "length": 726, "protein_name": "Biotin--protein ligase", "gene_name": "HLCS", "organism": "Human", "refseq_name": "biotin--protein ligase isoform 1", "refseq_ac": "NP_000402", "gene_names_uniprotkb": "HLCS", "gene_names_refseq": "HCS; HLCS", "protein_names_uniprotkb": "Biotin--protein ligase; 6.3.4.-; Biotin apo-protein ligase; HCS; Holocarboxylase synthetase", "protein_names_refseq": "biotin apo-protein ligase; biotin--[acetyl-CoA-carboxylase] ligase; biotin--[methylcrotonoyl-CoA-carboxylase] ligase; biotin--[methylmalonyl-CoA-carboxytransferase] ligase; biotin--protein ligase isoform 1; holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase); holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)", "tax_id": 9606, "disease": "holocarboxylase synthetase deficiency (Disease Ontology:DOID:859)", "pathway": " (hsa:3141); (R-HSA-196780); (R-HSA-3371599)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "10064314;10190325;10329687;10334869;10590022;10677481;11185745;11237011;11735028;12124727;12633764;12646417;14766011;16134170;16150625;16959974;18297087;18429047;18669648;20095979;20153287;21183659;22123817;23186163;23481700;25645385;25690727;28228285;2868710;28832583;28855257;28904123;29242379;29557506;29789417;30429286;30484775;31217245;31844290;32157095;32357974;32387766;32938616;33298915;33968037;34509645;34932366;35051231;36010968;36890565;37997490;38493427;6883721;7509806;7732023;7753853;7842009;8541348;8817339;8930409;9037601;9396568;9503011;9630604", "class_list": "", "function": "Biotin protein ligase as you like it: Either extraordinarily specific or promiscuous protein biotinylation. Review article, [RefSeq, PubMed]; Biotin--protein ligase catalyzing the biotinylation of the 4 biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoA carboxylase., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; CircRNA HLCS regulates lens epithelial cell apoptosis via miR-338-3p/BPNT1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RAH1;D3DSG6;Q99451", "ec_number_list": "6.4.1.2;6.4.1.3;6.4.1.1;6.3.4.-;6.3.4.10;6.3.4.11;6.3.4.15;6.3.4.9;6.4.1.4", "go_molecular_function": "GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0009374 biotin binding;GO:0004077 biotin--[biotin carboxyl-carrier protein] ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0016363 nuclear matrix;GO:0000785 chromatin", "go_biological_process": "GO:0043687 post-translational protein modification;GO:0006768 biotin metabolic process;GO:0070781 response to biotin", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "P50747-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30304-1", "uniprot_id": "MPIP1_HUMAN", "mass": 59087.0, "length": 524, "protein_name": "M-phase inducer phosphatase 1", "gene_name": "CDC25A", "organism": "Human", "refseq_name": "M-phase inducer phosphatase 1 isoform a", "refseq_ac": "NP_001780", "gene_names_uniprotkb": "CDC25A", "gene_names_refseq": "CDC25A2; CDC25A", "protein_names_uniprotkb": "M-phase inducer phosphatase 1; 3.1.3.48; Dual specificity phosphatase Cdc25A", "protein_names_refseq": "CDC25 homolog A; M-phase inducer phosphatase 1 isoform a; M-phase inducer phosphatase 1; dual specificity phosphatase CDC25A", "tax_id": 9606, "disease": "autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); vulva squamous cell carcinoma (Disease Ontology:DOID:2101); breast carcinoma (Disease Ontology:DOID:3459); cervical cancer (Disease Ontology:DOID:4362)", "pathway": " (hsa:993); (R-HSA-1362277); (R-HSA-156711); (R-HSA-176187); (R-HSA-5689880); (R-HSA-69200); (R-HSA-69202); (R-HSA-69273); (R-HSA-69601); (R-HSA-69656); (R-HSA-8862803)", "pathway_count": 11, "publication_count": 236, "publication_id_list": "10051570;10207050;10323868;10373362;10375532;10393926;10395539;10444327;10454565;10454584;10499802;10600115;10604467;10639123;10652300;10777662;10827953;10830966;10859164;10982817;11032757;11063929;11139144;11231585;11237011;11238451;11298456;11313932;11390642;11416152;11566882;11585773;11853546;11897663;11907280;11923872;11959842;12110582;12234927;12399544;12411508;12578958;12676583;12676925;12730199;12738781;12754270;12759351;12782299;12791985;12917689;12917691;12963847;1312467;1384126;1396589;14500360;14559997;14603323;14605214;14624239;14661020;14681206;15024056;15037762;15053880;15070733;15190204;15226314;15456846;15572030;15590058;15654331;15707391;15743907;15833913;15916963;16214042;16327781;16356754;16407120;16582612;16901786;16964248;17110335;1717476;17290220;17443180;17531812;17533373;17873522;17980597;17981138;18167338;18172164;1828290;18285455;1836978;18384749;18394995;18467330;18480045;18632802;18636086;18691386;19015242;19135894;19160488;19188362;19192479;19363159;19398555;19413330;19424180;19734889;19838211;19874889;19910467;20068082;20090422;20096447;20228808;20348946;20360007;20368735;20462953;20501646;21239494;21252624;21362556;21376736;21498570;21571647;21596315;21659512;21761201;21813648;21849505;21900495;21962518;22029577;22085928;22128162;22179839;22216260;22391450;22843495;22899714;23109430;23159851;23186163;23240008;23242214;23395819;23486064;23708659;23824326;23825189;24056413;24260525;24493797;24876129;24896179;25197364;25305019;25578727;26154972;26714930;26992070;27485204;27580187;28192398;28228285;28680535;28832583;28834231;28904123;29154753;29237092;29242379;29485866;29493099;29557506;29632711;29725502;30315122;30379171;31092671;31844290;31848261;32488085;32897882;32938616;32983136;33141586;33402344;33691108;33771996;33936100;34156324;34314996;34561969;34743185;35051231;37938771;38253038;38279484;7578059;7623816;7629134;7698360;7737117;7743995;7799941;8050359;8119945;8196638;8428596;8440392;8700224;8703070;8943031;9190208;9228946;9268380;9278511;9278512;9447971;9482921;9520412;9604936;9632134;9670027;9679058;9778043;9891042", "class_list": "", "function": "Activation of CDC25A phosphatase is limited by CDK2/cyclin A-mediated feedback inhibition., [RefSeq, PubMed]; CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression from G1 to the S phase of the cell cycle. It activates the cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents cells with chromosomal abnormalities from progressing through cell division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Cdc25A inhibits autophagy-mediated ferroptosis by upregulating ErbB2 through PKM2 dephosphorylation in cervical cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-199a-5p inhibits the proliferation of hepatocellular carcinoma cells by regulating CDC25A to induce cell cycle arrest., [RefSeq, PubMed]; Regulatory mechanism of interaction between Y-box-binding protein 1 and heterogenous nuclear ribonucleoprotein K in cell division cycle 25a signal pathway and lung cancer metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression (PubMed:12676925, PubMed:14559997, PubMed:1836978, PubMed:20360007). Directly dephosphorylates CDK1 and stimulates its kinase activity (PubMed:20360007). Also dephosphorylates CDK2 in complex with cyclin-E, in vitro (PubMed:20360007)., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 46, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q8IZH5;Q96IL3;Q9H2F2", "ec_number_list": "3.1.3.16;3.1.3.48;3.4.19.12;3.1.3.21;3.1.3.18;3.1.3.-;2.7.11.1;3.6.4.13;2.7.11.22;2.7.11.23;3.1.3.5;3.1.3.2;3.4.25.1;2.7.10.1;2.7.11.26;2.7.11.24;3.1.3.67;2.3.2.27;2.3.2.32;2.3.1.48;2.3.1.-;3.1.3.27;2.7.11.21;3.4.26.1", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0051087 protein-folding chaperone binding;GO:0004721 phosphoprotein phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0008283 cell population proliferation;GO:0010971 positive regulation of G2/M transition of mitotic cell cycle;GO:0051301 cell division;GO:0000086 G2/M transition of mitotic cell cycle;GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity", "synthesized_glycan_count": 0, "hit_score": 24.1, "record_id": "P30304-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43681-1", "uniprot_id": "ACHA4_HUMAN", "mass": 69957.0, "length": 627, "protein_name": "Neuronal acetylcholine receptor subunit alpha-4", "gene_name": "CHRNA4", "organism": "Human", "refseq_name": "neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor", "refseq_ac": "NP_000735", "gene_names_uniprotkb": "CHRNA4; NACRA4", "gene_names_refseq": "BFNC; CHRNA4; EBN1; EBN; NACHRA4; NACHR; NACRA4", "protein_names_uniprotkb": "Neuronal acetylcholine receptor subunit alpha-4", "protein_names_refseq": "cholinergic receptor, nicotinic alpha 4; cholinergic receptor, nicotinic, alpha 4 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 4; neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor; neuronal acetylcholine receptor subunit alpha-4; neuronal nicotinic acetylcholine receptor alpha-4 subunit", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); autosomal dominant nocturnal frontal lobe epilepsy (Disease Ontology:DOID:0060681); autosomal dominant nocturnal frontal lobe epilepsy 1 (Disease Ontology:DOID:0060682); Alzheimer's disease (Disease Ontology:DOID:10652); Lewy body dementia (Disease Ontology:DOID:12217); alcohol use disorder (Disease Ontology:DOID:1574); congenital myasthenic syndrome (Disease Ontology:DOID:3635); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:1137); (R-HSA-629587); (R-HSA-629594); (R-HSA-629597)", "pathway_count": 4, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;10563623;10945867;11237011;12124445;12527804;12810063;14623738;16120769;16835356;17132685;19059502;20881005;22361591;23843950;24715725;27344019;27698419;29720657;33657187;35093606;35494241;37451424;38454578;7550350;7721089;8833159;8906617;8987816;9009220", "class_list": "", "function": "Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant., [RefSeq, PubMed]; Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (PubMed:22361591, PubMed:27698419, PubMed:29720657, PubMed:38454578). CHRNA4 forms heteropentameric neuronal acetylcholine receptors with CHRNB2 and CHRNB4, as well as CHRNA5 and CHRNB3 as accesory subunits. Is the most abundant nAChR subtype expressed in the central nervous system (PubMed:16835356, PubMed:22361591, PubMed:27698419, PubMed:29720657, PubMed:38454578). Found in two major stoichiometric forms,(CHRNA4)3:(CHRNB2)2 and (CHRNA4)2:(CHRNB2)3, the two stoichiometric forms differ in their unitary conductance, calcium permeability, ACh sensitivity and potentiation by divalent cation (PubMed:27698419, PubMed:29720657, PubMed:38454578). Involved in the modulation of calcium-dependent signaling pathways, influences the release of neurotransmitters, including dopamine, glutamate and GABA (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Nicotine promotes renal interstitial fibrosis via upregulation of XIAP in an alpha7-nAChR-dependent manner., [RefSeq, PubMed]; Nicotinic acetylcholine receptor subunits alpha4 and alpha5 associated with smoking behavior and lung cancer are regulated by upstream open reading frames. Publication Status: Online-Only, [RefSeq, PubMed]; Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of alpha4beta2- nicotinic acetylcholine receptor intracellular structures. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 6, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q4JGR7;Q4VAQ5;Q4VAQ6", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0015276 ligand-gated monoatomic ion channel activity;GO:0015464 acetylcholine receptor activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:0042166 acetylcholine binding;GO:0140658 ATP-dependent chromatin remodeler activity", "go_cellular_component": "GO:0034703 cation channel complex;GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0016020 membrane;GO:0030425 dendrite", "go_biological_process": "GO:0006281 DNA repair;GO:0006811 monoatomic ion transport;GO:0006979 response to oxidative stress;GO:0007165 signal transduction;GO:0007271 synaptic transmission, cholinergic", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "P43681-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96TC7-1", "uniprot_id": "RMD3_HUMAN", "mass": 52118.0, "length": 470, "protein_name": "Regulator of microtubule dynamics protein 3", "gene_name": "RMDN3", "organism": "Human", "refseq_name": "regulator of microtubule dynamics protein 3 isoform 1", "refseq_ac": "NP_001291731", "gene_names_uniprotkb": "RMDN3; FAM82A2; FAM82C; PRO10274; PTPIP51; hucep-10", "gene_names_refseq": "FAM82A2; FAM82C; RMD-3; RMD3; RMDN3; ptpip51", "protein_names_uniprotkb": "Regulator of microtubule dynamics protein 3; Cerebral protein 10; Protein FAM82A2; Protein FAM82C; Protein tyrosine phosphatase-interacting protein 51; RMD-3; TCPTP-interacting protein 51; hRMD-3", "protein_names_refseq": "TCPTP-interacting protein 51; cerebral protein 10; family with sequence similarity 82, member A2; family with sequence similarity 82, member C; microtubule-associated protein; protein tyrosine phosphatase-interacting protein 51; regulator of microtubule dynamics protein 3 isoform 1; regulator of microtubule dynamics protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:55177)", "pathway_count": 1, "publication_count": 87, "publication_id_list": "10.1074/mcp.M114.046862;11237011;12975309;15609043;16820967;17081983;17361080;18070910;18220336;18452278;18491316;18578522;18669648;18691976;18767875;19007248;19413330;19415658;19651622;19690332;19691289;20058876;20068231;20166139;21513978;22131369;22544307;23186163;23481700;24275569;24501773;24714562;24715725;24970130;25418920;25576301;25813380;25880248;26154972;26375851;26728094;26811146;26929215;26992070;27846572;27862975;28218747;28754031;28904123;29437277;29493099;29557506;29858488;30139932;30315122;30410026;30779550;30833945;31075141;31092671;31154438;31611695;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33124732;33298915;33592498;33936100;33968037;33981976;34087483;35240162;35251023;35580925;36010968;38395965;40914422", "class_list": "", "function": "Involved in cellular calcium homeostasis regulation. May participate in differentiation and apoptosis of keratinocytes. Overexpression induces apoptosis., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; PTPIP51 inhibits non-small-cell lung cancer by promoting PTEN-mediated EGFR degradation., [RefSeq, PubMed]; PTPIP51 is a mitochondrial protein with apoptosis-inducing function and that the N-terminal TM domain is required for both the correct targeting of the protein to mitochondria and its apoptotic functions., [RefSeq, PubMed]; PTPIP51 might be involved in the regulation of cellular processes associated with differentiation, movement, or cytoskeletal organization, [RefSeq, PubMed]; Stimulating VAPB-PTPIP51 ER-mitochondria tethering corrects FTD/ALS mutant TDP43 linked Ca[2+] and synaptic defects. 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": 2, "reported_phosphosites": 15, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A9UMZ9;B3KRR3;Q6ZWE9;Q96H23;Q96SD6;Q9H6G1;Q9NVQ6", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0044232 organelle membrane contact site;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0030154 cell differentiation;GO:0006874 intracellular calcium ion homeostasis;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q96TC7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T124-1", "uniprot_id": "UBX11_HUMAN", "mass": 57373.0, "length": 520, "protein_name": "UBX domain-containing protein 11", "gene_name": "UBXN11", "organism": "Human", "refseq_name": "UBX domain-containing protein 11 isoform 3", "refseq_ac": "NP_001070730", "gene_names_uniprotkb": "UBXN11; PP2243; SOC; UBXD5", "gene_names_refseq": "COA-1; PP2243; SOCI; SOC; UBXD5; UBXN11", "protein_names_uniprotkb": "UBX domain-containing protein 11; Colorectal tumor-associated antigen COA-1; Socius; UBX domain-containing protein 5", "protein_names_refseq": "UBX domain-containing protein 11 isoform 3; UBX domain-containing protein 5; colorectal tumor-associated antigen COA-1; colorectal tumor-associated antigen-1; socius", "tax_id": 9606, "disease": "", "pathway": " (hsa:91544); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273)", "pathway_count": 4, "publication_count": 54, "publication_id_list": "10664463;11237011;11784792;11940653;12244061;12842009;14583468;14732713;15498874;15738000;16202387;16481321;18691976;18974390;18996843;19103606;19136556;20811643;23481700;24690281;25645385;25888806;26154972;26969432;26992070;28218747;28649982;28832583;29437277;29493099;29508533;29557506;29786170;31844290;31871319;32157095;32161166;32357974;32387766;32938616;33298915;33592498;33968037;33981976;34509645;35051231;35580925;35874702;36241641;36284347;38622461;39894887;8649376;9531558", "class_list": "", "function": "Both CD4+ and CD8+ T-cell responses against COA-1 can occur in colorectal cancer patients with metastatic disease, [RefSeq, PubMed]; May be involved in the reorganization of actin cytoskeleton mediated by RND1, RND2 and RND3. Promotes RHOA activation mediated by GNA12 and GNA13 (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Socius is a novel Rnd GTPase-interacting protein involved in disassembly of actin stress fibers, [RefSeq, PubMed]; The rat homolog of UBXD5 promotes RhoA activation through G12/13 heterotrimeric G proteins, [RefSeq, PubMed]; This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; UBXN11 Predicts as a Poor Index for Colorectal Cancer and Contributes to the Tumorigenesis by Activating NF-kappaB 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DPK6;Q5T117;Q5T120;Q5T125;Q5T126;Q5T129;Q5T131;Q5T133;Q63HM6;Q71RB3;Q8IY27;Q8N1L6;Q8N9M4;Q8NA18;Q8NFE3;Q8NFE4;Q8NFE6", "ec_number_list": "", "go_molecular_function": "GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q5T124-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7L5D6-1", "uniprot_id": "GET4_HUMAN", "mass": 36504.0, "length": 327, "protein_name": "Golgi to ER traffic protein 4 homolog", "gene_name": "GET4", "organism": "Human", "refseq_name": "Golgi to ER traffic protein 4 homolog", "refseq_ac": "NP_057033", "gene_names_uniprotkb": "GET4; C7orf20; CEE; CGI-20; TRC35", "gene_names_refseq": "C7orf20; CDG2Y; CEE; CGI-20; GET4; TRC35", "protein_names_uniprotkb": "Golgi to ER traffic protein 4 homolog; Conserved edge-expressed protein; TRC35; Transmembrane domain recognition complex 35 kDa subunit", "protein_names_refseq": "Golgi to ER traffic protein 4 homolog; H_NH1244M04.5; conserved edge expressed protein; conserved edge protein; golgi to ER traffic protein 4; transmembrane domain recognition complex 35 kDa subunit; transmembrane domain recognition complex, 35kDa", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIy (Disease Ontology:DOID:0051052)", "pathway": " (hsa:51608); (R-HSA-9609523)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "11237011;15708368;16777091;17382883;18249086;18477612;20375064;20676083;21444755;21466504;21636303;21743475;22223895;22898188;23041287;23129660;23142665;23186163;23246001;23481700;23533635;24392163;25179605;25415308;25535373;25713138;26675233;26992070;27193484;27226539;27458190;28104892;28228285;28514659;28832583;28834231;28904123;29042515;29242231;29242379;29493099;29557506;29769354;30315122;30410026;31217245;31222486;31844290;31848261;32357974;32395830;32938616;33298915;33392160;33717175;33912179;33968037;34185709;34704338;34887561;35154160;35251023;35580925;36010968", "class_list": "", "function": "As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates in their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20676083, PubMed:21636303, PubMed:21743475, PubMed:28104892, PubMed:32395830). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20676083, PubMed:25535373, PubMed:28104892). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated and sorted to the proteasome (PubMed:28104892). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; GET4 is a novel driver gene in colorectal cancer that regulates the localization of BAG6, a nucleocytoplasmic shuttling protein., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 14, "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": "A4D2Q1;B3KNC7;Q9UFC9;Q9Y309", "ec_number_list": "", "go_molecular_function": "GO:0051087 protein-folding chaperone binding;GO:0140597 protein carrier chaperone", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0071818 BAT3 complex", "go_biological_process": "GO:0006620 post-translational protein targeting to endoplasmic reticulum membrane;GO:0045048 protein insertion into ER membrane;GO:0031647 regulation of protein stability;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q7L5D6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P38398-1", "uniprot_id": "BRCA1_HUMAN", "mass": 207721.0, "length": 1863, "protein_name": "Breast cancer type 1 susceptibility protein", "gene_name": "BRCA1", "organism": "Human", "refseq_name": "breast cancer type 1 susceptibility protein isoform 3", "refseq_ac": "NP_009228", "gene_names_uniprotkb": "BRCA1; RNF53", "gene_names_refseq": "BRCA1; BRCAI; BRCC1; BROVCA1; FANCS; IRIS; PNCA4; PPP1R53; PSCP; RNF53", "protein_names_uniprotkb": "Breast cancer type 1 susceptibility protein; 2.3.2.27; RING finger protein 53; RING-type E3 ubiquitin transferase BRCA1", "protein_names_refseq": "BRCA1/BRCA2-containing complex, subunit 1; Fanconi anemia, complementation group S; RING finger protein 53; breast and ovarian cancer susceptibility protein 1; breast cancer 1, early onset; breast cancer type 1 susceptibility protein isoform 3; breast cancer type 1 susceptibility protein; early onset breast cancer 1; protein phosphatase 1, regulatory subunit 53", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); Fanconi anemia complementation group S (Disease Ontology:DOID:0060979); colorectal carcinoma (Disease Ontology:DOID:0080199); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); colon cancer (Disease Ontology:DOID:219); ovarian cancer (Disease Ontology:DOID:2394); breast adenocarcinoma (Disease Ontology:DOID:3458); breast carcinoma (Disease Ontology:DOID:3459); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); cervical cancer (Disease Ontology:DOID:4362); stomach carcinoma (Disease Ontology:DOID:5517); hereditary breast ovarian cancer syndrome (Disease Ontology:DOID:5683); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); breast-ovarian cancer, familial, susceptibility to, 1 (MONDO:MONDO:0011450); pancreatic cancer, susceptibility to, 4 (MONDO:MONDO:0013685)", "pathway": " (hsa:672); (R-HSA-1221632); (R-HSA-3108214); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5689901); (R-HSA-5693537); (R-HSA-5693554); (R-HSA-5693565); (R-HSA-5693568); (R-HSA-5693571); (R-HSA-5693579); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6796648); (R-HSA-6804756); (R-HSA-69473); (R-HSA-8951664); (R-HSA-8953750); (R-HSA-912446); (R-HSA-9663199); (R-HSA-9699150); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709570); (R-HSA-9709603); (R-HSA-9755511); (R-HSA-9825895)", "pathway_count": 29, "publication_count": 823, "publication_id_list": "10.1101/2023.09.13.557529;10029069;10196379;10212258;10323242;10373512;10373534;10383417;10388472;10403822;10435622;10438626;10480351;10486320;10500146;10500182;10535940;10542266;10550055;10551859;10562567;10570149;10570174;10572166;10574707;10597293;10604467;10608806;10673500;10673501;10710310;10724175;10728666;10733923;10734115;10744977;10757784;10766245;10783165;10801132;10802669;10811609;10851077;10856253;10859164;10866324;10878807;10884347;10921897;10928988;10959836;10973490;10973499;10984493;11006276;11025670;11069780;11080452;11114888;11139606;11171983;11237011;11239454;11239457;11259415;11278247;11278964;11292842;11292861;11292862;11301010;11350971;11376695;11390408;11390642;11447225;11454738;11459987;11493912;11511362;11526114;11546806;11551930;11571269;11571274;11573085;11573086;11585840;11604075;11673449;11698410;11702069;11733065;11739404;11740489;11751635;11751867;11780126;11792325;11832208;11836499;11836613;11877377;11889051;11893489;11927591;11934988;11955432;11961546;11971958;11988847;12004135;12023295;12064478;12077346;12101228;12111733;12139939;12152085;12183412;12186630;12186903;12191481;12198130;12203997;12215251;12226092;12228710;12231622;12353037;12360400;12364621;12370410;12379650;12393879;12419185;12427729;12427738;12431996;12442274;12442275;12447390;12485996;12491487;12504025;12504026;12509254;12526791;12538644;12545175;12578958;12607003;12607005;12609982;12682069;12686547;12697768;12700136;12702766;12721304;12750383;12759363;12773400;12791985;12792649;12816948;12832489;12851404;12872263;12887909;12890688;12897153;12909625;12912992;12914926;12938098;12947387;14517290;14527420;14555511;14560035;14561766;14576433;14585973;14636569;14688281;14690597;14701743;14702041;14716019;14722926;14734547;14746861;14757770;14764894;14976165;14990569;15014447;15026808;15053879;15064416;15096610;15125634;15133502;15159397;15164066;15175327;15177042;15189136;15190204;15201865;15235794;15254237;15279782;15282312;15304223;15353005;15355988;15359272;15361859;15365993;15367669;15451442;15456891;15468306;15485900;15536069;15537541;15564800;15572695;15574327;15574592;15601839;15608651;15609993;15652483;15665856;15688063;15694336;15703751;15707391;15723659;15735322;15781865;15799966;15823533;15829507;15866171;15916957;15924337;15940266;15959518;15983046;16030353;16061182;16093244;16101277;16123081;16148040;16150728;16153896;16171779;16227521;16286508;16292313;16322207;16322221;16322561;16326698;16327781;16337601;16359182;16360315;16377563;16401342;16427009;16439204;16439205;16478998;16489000;16530042;16547496;16600297;16608850;16626738;16647857;16651405;16688858;16698035;16707496;16760288;16790436;16793542;16810316;16818604;16874298;16885023;16914548;16943200;16959974;16962933;17001316;17007555;17018160;17081101;17081983;17108107;17114795;17132228;17183367;17200668;17200671;17200672;17220875;17289582;17290226;17332328;17334399;17349958;17420451;17428466;17470781;17497243;17504528;17512459;17515903;17525332;17525340;17541404;17553757;17574969;17575048;17591690;17600109;17643121;17643122;17693435;17707232;17785452;17848578;17924331;17928296;17962301;17965729;17977839;17979524;17981954;17996710;17996711;18001824;18001825;18006705;18026198;18046455;18056443;18077395;18093314;18171670;18206966;18238777;18256600;18273910;18285836;18288416;18317453;18397950;18443292;18451254;18452278;18452305;18490454;18519686;18535008;18539610;18541667;18562691;18625722;18644861;18669648;18691969;18708356;18757400;18758443;18762988;18775313;18776931;18804494;18805091;18805092;18826954;18851830;18923075;18926707;18957201;18971343;19001859;19074197;19092802;19117993;19121998;19146767;19176521;19202061;19203578;19203579;19234442;19250909;19261746;19261748;19261749;19268590;19287951;19321346;19351884;19357644;19369211;19419957;19428384;19505854;19584259;19596236;19596686;19609323;19617556;19622773;19622798;19651622;19683496;19690332;19706679;19748355;19779455;19782031;19809577;19941829;19956565;19965871;20016594;20016603;20023648;20044539;20044541;20062530;20068231;20085797;20103620;20154705;20159462;20160719;20190268;20207730;20223018;20233725;20345474;20351172;20364141;20378532;20452972;20495340;20513136;20569256;20634189;20638108;20705237;20729832;20729858;20729859;20818382;20871615;20871616;20959462;20965415;20967475;21052091;21098080;21118815;21144835;21147198;21220506;21240188;21263215;21282113;21284855;21293379;21317932;21325134;21335604;21338495;21391649;21406692;21447816;21463634;21473589;21520333;21550342;21565612;21596310;21659603;21666281;21673012;21680713;21720365;21734707;21777809;21778237;21804533;21863050;21919919;21940857;22012619;22021381;22024395;22179609;22194698;22231403;22234877;22306028;22373579;22424782;22466964;22508508;22529269;22537386;22544926;22589545;22593209;22635276;22645308;22661229;22661230;22706990;22708332;22751501;22753008;22789539;22792074;22872865;22889855;22908299;22959436;22977173;22980979;22988298;23000554;23086937;23128816;23149936;23186163;23192404;23201271;23246432;23269703;23274085;23306437;23333306;23333871;23345434;23346553;23401859;23453757;23468639;23485397;23505375;23509288;23535662;23535663;23563313;23583660;23674270;23676219;23686288;23704879;23727112;23731732;23750026;23754376;23810717;23842040;23867111;23871147;23912815;23954429;23986495;24011591;24013206;24027577;24076221;24076655;24078348;24141787;24145406;24236237;24298019;24316840;24366543;24371268;24485656;24492479;24509834;24516540;24528374;24554720;24600974;24615043;24627085;24636985;24662513;24667604;24714562;24715725;24746700;24782567;24793695;24793696;24831703;24845084;24874608;25040165;25113031;25114211;25122754;25218447;25223785;25314029;25349211;25355947;25429106;25472942;25512557;25531226;25558984;25561469;25576301;25645385;25659039;25712099;25755297;25793262;25818648;25841101;25879655;25880248;25921531;25939603;26117325;26145171;26154972;26344709;26350354;26460955;26583321;26632597;26745677;26778126;26807646;26864382;26884712;26906416;26942676;26951538;26992070;27030794;27222660;27565346;27600516;27846572;27899578;28035057;28089683;28115426;28158555;28228285;28240985;28319063;28364669;28380357;28490613;28514659;28832583;28834231;28879638;28904123;29133208;29153394;29156836;29165669;29233872;29242379;29439343;29450944;29493099;29508533;29510000;29526543;29557506;29608566;29671580;29769354;29786170;30289697;30311374;30315122;30395541;30458859;30524438;30610225;30779550;30833945;31217245;31530632;31546975;31586400;31630206;31636395;31663018;31757951;31844290;31848261;31940810;31998317;32005965;32157095;32161166;32284348;32293500;32357974;32387766;32488085;32502341;32640524;32672401;32732220;32897882;32938616;32983136;33009401;33141586;33195396;33298915;33392160;33397362;33444648;33537174;33592498;33633747;33691108;33717175;33791708;33859744;33912179;33936100;33968037;33978741;33981976;34087483;34171305;34211107;34440403;34509645;34552057;34932366;34998176;35051231;35318648;35409089;35561310;35580925;36010968;36172813;36284347;37217939;7545954;7623816;7894491;7894493;7939630;8422676;8554067;8702565;8723683;8776600;8794855;8807330;8875986;8929543;8938427;8944023;8968716;8972225;9008167;9010228;9063748;9168116;9259561;9285814;9311981;9362443;9412458;9430729;9450758;9452416;9482581;9488723;9501179;9512523;9528852;9609997;9662397;9689056;9704927;9705271;9756909;9760198;9781043;9790970;9811458;9826654;9826763;9837724;9885291;9887101;9891082;9925639", "class_list": "", "function": "E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Required for FANCD2 targeting to sites of DNA damage. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation. Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks. Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8. Acts as a transcriptional activator., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 82, "reported_mutagensis": 27, "reported_glycation": 0, "reported_snv": 228, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 4, "disease_count": 23, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "E9PFZ0;O15129;Q1RMC1;Q3LRJ0;Q3LRJ6;Q6IN79;Q7KYU9", "ec_number_list": "2.7.11.1;2.3.2.-;2.3.2.27;2.3.2.26;2.1.1.357;2.7.11.22;5.6.2.3;6.5.1.1;5.6.2.4;3.1.13.-;2.7.7.48;2.7.7.6;2.7.7.7;3.1.11.-;3.4.19.-;3.1.-.-;2.7.11.23;2.7.11.24;2.3.2.23;2.3.2.32;3.6.4.-;5.6.2.1;3.4.19.12;3.6.-.-;2.3.1.48;2.3.1.-;3.1.22.-;3.1.11.2;3.4.14.4;5.6.2.-;3.1.3.16", "go_molecular_function": "GO:0061649 ubiquitin-modified histone reader activity;GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016604 nuclear body", "go_biological_process": "GO:2000001 regulation of DNA damage checkpoint;GO:0006281 DNA repair;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 83.1, "record_id": "P38398-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WXI9-1", "uniprot_id": "P66B_HUMAN", "mass": 65261.0, "length": 593, "protein_name": "Transcriptional repressor p66-beta", "gene_name": "GATAD2B", "organism": "Human", "refseq_name": "transcriptional repressor p66-beta", "refseq_ac": "NP_065750", "gene_names_uniprotkb": "GATAD2B; KIAA1150", "gene_names_refseq": "GANDS; GATAD2B; MRD18; P66beta; p68", "protein_names_uniprotkb": "Transcriptional repressor p66-beta; GATA zinc finger domain-containing protein 2B; p66/p68", "protein_names_refseq": "GATA zinc finger domain-containing protein 2B; transcription repressor p66 beta component of the MeCP1 complex; transcriptional repressor p66-beta", "tax_id": 9606, "disease": "GAND syndrome (Disease Ontology:DOID:0070048); intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:57459); (R-HSA-3214815); (R-HSA-427389); (R-HSA-6804758); (R-HSA-73762); (R-HSA-8943724); (R-HSA-9679191); (R-HSA-9843940); (R-HSA-9844594); (R-HSA-9845323); (R-HSA-9937850); (R-HSA-9940951); (R-HSA-9976102)", "pathway_count": 13, "publication_count": 274, "publication_id_list": "10082553;10087012;10204490;10330177;10444591;10449787;10748112;10904264;10913176;10922406;10926844;10970879;10978333;11099047;11237011;11250901;11378386;11509652;11545734;11739383;11742974;11756549;11781575;11909966;11959841;11959846;12032298;12183469;12393749;12419226;12504854;12724404;12869583;14536086;15302935;15456747;1547496;15516265;15643425;15701600;15882967;16115318;16186106;16415179;16418168;16428440;16522641;16567619;16676006;16702404;16707490;16839880;16954381;16964243;17081983;17211407;17287340;17318177;17322306;17646674;17662961;17873065;17924679;17974977;18082607;18172008;18220336;18391013;18452278;18487508;18571423;18656484;18669648;18794358;19413330;19415658;19440552;19651622;19664995;19690332;19884659;20068230;20068231;20223979;20228809;20233713;2028256;20516213;20523938;20660729;21289308;21406692;21490301;21587264;22128185;22398447;22401777;22552008;22684280;22814904;23033978;23186163;23239876;23287862;23301498;23361464;23431171;23481700;23641311;23644463;24252660;24272870;24307175;24366607;24385926;24554700;24584101;24715725;24718924;24920672;25150861;25218447;25274305;25576301;25593309;25728608;25753662;25772364;25801024;25892735;26002965;26030138;26101246;26154972;26280087;26375851;26811146;26813693;26910647;26992070;27418187;27418309;27600516;27633282;27655845;27732854;27806305;27846572;27862975;27893789;27920218;2805069;28063628;28228285;28273063;28425720;28514659;28533432;28657654;28832583;28834231;28904123;28977666;29042441;29237092;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29945920;30045876;30059200;30122475;30134174;30201761;30228260;30315122;30327463;30379171;30429286;30620550;30833945;30980593;31048504;31154438;31217245;31289231;31373491;31427381;31492838;31530632;31637018;31746185;31844290;31848261;31998317;32119511;32157095;32265295;32350084;32357974;32387766;32502341;32574038;32938616;32938750;32983136;33141586;33214551;33264408;33283408;33298915;33392160;33542430;33592498;33691108;33717175;33936100;33968037;34019948;34211107;34229054;34357683;34470925;34509645;34561969;34846842;34932366;35051231;35132862;35138101;35251023;35254053;35289036;35513511;35561310;35580925;35705054;36008597;36010968;36241641;36284347;37217939;37340703;37541260;37938771;38359823;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;7491500;7513682;7801123;7969165;8769649;9016654;9150135;9427644;9512513;9651585;9790534;9804427;9885572", "class_list": "", "function": "Detailed clinical description showed that all four individuals with a GATAD2B aberration had a distinctive phenotype with childhood hypotonia, severe intellectual disability., [RefSeq, PubMed]; The enhancer activity of long interspersed nuclear element derived microRNA 625 induced by NF-kappaB. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability. [provided by RefSeq, Jun 2016]., [RefSeq]; Tissue-specific DNase I footprint analysis confirms the association of GATAD2B Q470* variant with intellectual disability., [RefSeq, PubMed]; Transcriptional repressor (PubMed:12183469, PubMed:16415179). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666). Enhances MBD2-mediated repression (PubMed:12183469, PubMed:16415179). Efficient repression requires the presence of GATAD2A (PubMed:16415179). Targets MBD3 to discrete loci in the nucleus (PubMed:11756549). May play a role in synapse development (PubMed:23644463)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 25, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 25, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 25, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 25, "binding_glycan_count": 0, "secondary_ac_list": "D3DUZ2;Q5VUR2;Q7LG68;Q9ULS0", "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:0016607 nuclear speck;GO:0000785 chromatin;GO:0032991 protein-containing complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 30.2, "record_id": "Q8WXI9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35520-1", "uniprot_id": "CBS_HUMAN", "mass": 60587.0, "length": 551, "protein_name": "Cystathionine beta-synthase", "gene_name": "CBS", "organism": "Human", "refseq_name": "cystathionine beta-synthase isoform 1", "refseq_ac": "NP_000062", "gene_names_uniprotkb": "CBS", "gene_names_refseq": "CBS; HIP4", "protein_names_uniprotkb": "Cystathionine beta-synthase; 4.2.1.22; Beta-thionase; Serine sulfhydrase", "protein_names_refseq": "beta-thionase; cystathionine beta-synthase isoform 1; methylcysteine synthase; serine sulfhydrase", "tax_id": 9606, "disease": "vitamin B12 deficiency (Disease Ontology:DOID:0050731); neural tube defect (Disease Ontology:DOID:0080074); malaria (Disease Ontology:DOID:12365); Down syndrome (Disease Ontology:DOID:14250); breast cancer (Disease Ontology:DOID:1612); colon cancer (Disease Ontology:DOID:219); ovarian cancer (Disease Ontology:DOID:2394); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); homocystinuria (Disease Ontology:DOID:9263); hyperhomocysteinemia (Disease Ontology:DOID:9279)", "pathway": " (hsa:102724560); (hsa:875); (R-HSA-1614603); (R-HSA-2408508)", "pathway_count": 4, "publication_count": 107, "publication_id_list": "10052942;10212249;10215408;10338090;10408774;10462600;11013450;11237011;11359213;11483494;11524006;11553052;11578145;12007221;12124992;12173932;12815602;1301198;14635102;1483038;15146473;15365998;15993874;16037612;16205833;16408927;16429402;16444005;17087506;1711890;17451884;19261609;19413330;20068231;20164179;20383543;20506325;21240075;21406692;21520339;22738154;23186163;2339986;23974653;23981774;25044645;26368121;26811146;26992070;27509878;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29632046;30315122;30379171;30429286;30459171;30779550;31154438;31848261;32157095;32897882;32938616;34019948;34357683;34509645;34932366;35051231;35138101;35251023;35580925;36215666;38563463;38575566;38665916;39041895;39324183;6456763;681363;7305945;7506602;7564249;7598711;7611293;7635485;7762555;7849717;7903580;7967489;7981678;8022826;8353501;8528202;8755636;8803779;8990018;9156316;9266356;9361025;9383285;9790750;9889017", "class_list": "", "function": "Architecture and regulation of filamentous human cystathionine beta-synthase. Publication Status: Online-Only, [RefSeq, PubMed]; Biochemical and structural impact of two novel missense mutations in cystathionine beta-synthase gene associated with homocystinuria., [RefSeq, PubMed]; Cellular turnover and degradation of the most common missense cystathionine beta-synthase variants causing homocystinuria., [RefSeq, PubMed]; Cystathionine-beta-synthase expression correlates with tumour progression and adverse prognosis in patients with colon cancer., [RefSeq, PubMed]; Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:20506325, PubMed:23974653, PubMed:23981774). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 11, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R993;D3DSK4;Q99425;Q9BWC5", "ec_number_list": "4.2.1.22", "go_molecular_function": "GO:0019899 enzyme binding;GO:0030170 pyridoxal phosphate binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0031667 response to nutrient levels;GO:0071456 cellular response to hypoxia;GO:0042262 DNA protection;GO:0043418 homocysteine catabolic process", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "P35520-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75027-1", "uniprot_id": "ABCB7_HUMAN", "mass": 82641.0, "length": 752, "protein_name": "Iron-sulfur clusters transporter ABCB7, mitochondrial", "gene_name": "ABCB7", "organism": "Human", "refseq_name": "iron-sulfur clusters transporter ABCB7, mitochondrial isoform 2", "refseq_ac": "NP_001258625", "gene_names_uniprotkb": "ABCB7; ABC7", "gene_names_refseq": "ABC7; ABCB7; ASAT; Atm1p; EST140535", "protein_names_uniprotkb": "Iron-sulfur clusters transporter ABCB7, mitochondrial; ABC transporter 7 protein; ATP-binding cassette sub-family B member 7, mitochondrial; ATP-binding cassette transporter 7", "protein_names_refseq": "ABC transporter 7 protein; ATP-binding cassette sub-family B member 7, mitochondrial; ATP-binding cassette transporter 7; ATP-binding cassette, sub-family B (MDR/TAP), member 7; iron-sulfur clusters transporter ABCB7, mitochondrial isoform 2; iron-sulfur clusters transporter ABCB7, mitochondrial", "tax_id": 9606, "disease": "X-linked sideroblastic anemia with ataxia (Disease Ontology:DOID:0050554); sideroblastic anemia (Disease Ontology:DOID:8955)", "pathway": " (hsa:22); (R-HSA-1369007); (R-HSA-2564830)", "pathway_count": 3, "publication_count": 87, "publication_id_list": "10196363;10837493;10922475;11050011;11237011;11843825;12892562;15215243;15225610;17006453;17192393;18573874;18625724;19608861;20802492;22398176;22424782;22544926;22678361;22678362;23150669;24397554;24715725;25063848;25576301;25645385;25892735;26154972;26811146;26992070;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29769354;29786170;30315122;30379171;30524438;30765471;31217245;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33157103;33298915;33392160;33537174;33592498;33689857;33717175;33912179;33968037;34211107;34357683;34509645;34861039;35051231;35561310;35580925;36010968;37142077;9621516;9653160;9878413;9883897", "class_list": "", "function": "Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome., [RefSeq, PubMed]; Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation., [RefSeq, PubMed]; Exports glutathione-coordinated iron-sulfur clusters such as [2Fe-2S]-(GS)4 cluster from the mitochondria to the cytosol in an ATP-dependent manner allowing the assembly of the cytosolic iron-sulfur (Fe/S) cluster-containing proteins and participates in iron homeostasis (PubMed:10196363, PubMed:17192393, PubMed:33157103). Moreover, through a functional complex formed of ABCB7, FECH and ABCB10, also plays a role in the cellular iron homeostasis, mitochondrial function and heme biosynthesis (PubMed:30765471). In cardiomyocytes, regulates cellular iron homeostasis and cellular reactive oxygen species (ROS) levels through its interaction with COX4I1 (By similarity). May also play a role in hematopoiesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Expression, purification and microscopic characterization of human ATP-binding cassette sub-family B member 7 protein., [RefSeq, PubMed]; Knockdown of ABCB7 inhibits esophageal cancer progression by inhibiting the TGF-beta/Smad signaling., [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 as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 9, "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": "G3XAC4;O75345;Q5VWY7;Q5VWY8;Q9BRE1;Q9UND1;Q9UP01", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0015232 heme transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0016020 membrane", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:1903427 negative regulation of reactive oxygen species biosynthetic process;GO:0034755 iron ion transmembrane transport;GO:0055085 transmembrane transport;GO:0006879 intracellular iron ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "O75027-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NUJ1-1", "uniprot_id": "ABHDA_HUMAN", "mass": 33933.0, "length": 306, "protein_name": "Palmitoyl-protein thioesterase ABHD10, mitochondrial", "gene_name": "ABHD10", "organism": "Human", "refseq_name": "palmitoyl-protein thioesterase ABHD10, mitochondrial isoform 2", "refseq_ac": "NP_001258998", "gene_names_uniprotkb": "ABHD10", "gene_names_refseq": "ABHD10", "protein_names_uniprotkb": "Palmitoyl-protein thioesterase ABHD10, mitochondrial; 3.1.1.93; 3.1.2.22; Abhydrolase domain-containing protein 10; Acyl-protein thioesterase ABHD10; Alpha/beta hydrolase domain-containing protein 10; Mycophenolic acid acyl-glucuronide esterase, mitochondrial", "protein_names_refseq": "abhydrolase domain-containing protein 10, mitochondrial; acyl-protein thioesterase ABHD10; alpha/beta hydrolase domain-containing protein 10, mitochondrial; mycophenolic acid acyl-glucuronide esterase, mitochondrial; palmitoyl-protein thioesterase ABHD10, mitochondrial isoform 2; palmitoyl-protein thioesterase ABHD10, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:55347); (R-HSA-156588)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "11237011;12433823;1339448;14570768;15135306;16258079;18052085;19545173;20068231;21078990;22294686;25217485;25576301;25880248;27556486;27862975;28218747;28228285;28510447;28649982;28904123;29393594;29557506;30192525;30315122;30779550;3082969;31740833;31844290;32157095;32161166;32938616;33043033;33981976;34087483;34357683;35494241;36241641;38665916;40914422;4639028;6654901;6796486;8027054;8687483", "class_list": "", "function": "ABHD10 is responsible for deglucuronidation of mycophenolic acid acyl-glucuronide in liver., [RefSeq, PubMed]; Acts as an acyl-protein thioesterase that hydrolyzes fatty acids from acylated residues in proteins (PubMed:31740833). Regulates the mitochondrial S-depalmitoylation of the nucleophilic active site residue of peroxiredoxin-5/PRDX5, a key antioxidant protein, therefore modulating mitochondrial antioxidant ability (PubMed:31740833). Also catalyzes the deglucuronidation of mycophenolic acid acyl-glucuronide, an active metabolite of the immunosuppressant drug mycophenolate (PubMed:22294686)., [UniProtKB, PubMed, PubMed]; Mitochondrial localization of rat Abhd10, [RefSeq, PubMed]; This gene encodes a mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]., [RefSeq]; Which potently inhibited ABHD10 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z6A8;C9IZX5;D3DN63;Q8TCF9", "ec_number_list": "3.1.2.22;2.3.1.-;3.1.2.-;3.1.2.2;3.4.-.-;3.4.19.12;3.1.1.93", "go_molecular_function": "GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds;GO:0102390 mycophenolic acid acyl-glucuronide esterase activity;GO:0008474 palmitoyl-(protein) hydrolase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0002084 protein depalmitoylation;GO:0019585 glucuronate metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9NUJ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P63104-1", "uniprot_id": "1433Z_HUMAN", "mass": 27745.0, "length": 245, "protein_name": "14-3-3 protein zeta/delta", "gene_name": "YWHAZ", "organism": "Human", "refseq_name": "14-3-3 protein zeta/delta", "refseq_ac": "NP_001129171", "gene_names_uniprotkb": "YWHAZ", "gene_names_refseq": "14-3-3-zeta; HEL-S-3; HEL-S-93; HEL4; KCIP-1; POPCHAS; YWHAD; YWHAZ", "protein_names_uniprotkb": "14-3-3 protein zeta/delta; KCIP-1; Protein kinase C inhibitor protein 1", "protein_names_refseq": "14-3-3 delta; 14-3-3 protein zeta/delta; 14-3-3 protein/cytosolic phospholipase A2; 14-3-3 zeta; epididymis luminal protein 4; epididymis secretory protein Li 3; epididymis secretory protein Li 93; phospholipase A2; protein kinase C inhibitor protein-1; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide; tyrosine 3/tryptophan 5 -monooxygenase activation protein, zeta polypeptide", "tax_id": 9606, "disease": "absence epilepsy (Disease Ontology:DOID:0070309); Popov-Chang syndrome (Disease Ontology:DOID:0070709); intellectual disability (Disease Ontology:DOID:1059); hypertension (Disease Ontology:DOID:10763); temporal lobe epilepsy (Disease Ontology:DOID:3328); schizophrenia (Disease Ontology:DOID:5419); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:7534); (R-HSA-111447); (R-HSA-1445148); (R-HSA-3769402); (R-HSA-392517); (R-HSA-430116); (R-HSA-450604); (R-HSA-512988); (R-HSA-5625740); (R-HSA-5628897); (R-HSA-75035); (R-HSA-9013700); (R-HSA-9604323); (R-HSA-9614399); (R-HSA-9735871); (R-HSA-9755779); (R-HSA-9856649)", "pathway_count": 17, "publication_count": 400, "publication_id_list": "10.1101/2023.09.13.557529;10102273;10195903;10329961;10330186;10358075;10435585;10455159;10477686;10477722;10488331;10549281;10567402;10611221;10619026;10627461;10655586;10673502;10716435;10745013;10753910;10887121;10898789;10921920;10924361;10944533;10949026;10949031;10980602;10982827;11027551;11029283;11034341;11134534;11237011;11237865;11313932;11328862;11331307;11336675;11340051;11427721;11486029;11545734;11691915;11697890;11700320;11719186;11840323;11891324;11912130;11930005;11942626;11956222;11959846;12161445;12203114;12408824;12408825;12438239;12453409;12589811;12657644;12665801;12712206;12714747;12766774;12783890;12861023;12865427;12869586;12906785;13298683;13538944;1396555;1400495;14514689;14578935;14600025;14613942;14651849;14654843;14685266;14701673;14970201;14975237;15003508;15037601;15071501;15105503;15118077;15132997;15159416;15175153;15184667;15223;15226305;15327769;15507434;15514971;15525529;15589136;15632203;15644438;15660102;15660133;15696159;1577711;15791647;15883165;15919790;15971998;16014379;16034366;16102041;16103198;16114898;16140933;16246723;16272144;16364914;16376338;16413492;16510874;16636147;16648466;16728594;16760263;16822840;16839880;16880201;16959763;1698554;16998888;1702217;17081065;17081983;17218525;17235285;17244620;17298220;17301291;17306213;17369524;17412698;1748288;17486094;17540029;17623675;17698607;17875931;17913709;17947532;17995453;18006505;18039662;18055455;18077418;18198340;1833064;1833065;18344994;18369606;18378692;18452278;18456656;1846040;18559254;18573912;18598779;18644867;18684992;18691976;18692468;18692472;18819930;19013499;19047045;19113821;19141871;19172738;19198587;19252894;19364920;1939645;19413330;19415658;19416966;19439913;19487573;19524539;19590513;19608861;19640509;19651622;19664994;19690332;19723632;19822145;19854161;19928349;19940019;20068231;20080666;2010539;20154085;20166139;20182617;20351271;20378837;20460180;20478047;20631154;2065657;20701589;20837646;20937701;21351730;21454505;21454690;21486943;21654843;21749319;21750704;21907143;21958598;21965087;22223895;22304967;22363791;22647378;23159739;23190890;23207919;23301498;23572552;23719902;23775793;24066844;24128008;24291232;24366874;24383451;24718924;25248477;25271362;2550440;25505266;2555171;25576301;25579166;25595898;25645385;25740432;25892735;26047703;26154972;26374642;26375851;26652033;26811146;2681215;26992070;27030597;27128622;27452731;27600516;27920218;28218747;28394346;28467828;28514659;28832583;28904123;29242379;29295999;29314611;29317506;29351928;29357390;29393594;29557506;29769354;29786170;29789417;30315122;30397120;30429286;30444036;30524438;30573663;30779550;30804224;30833945;30941482;31020640;31024343;31092671;31154438;31217245;31530632;3155520;31611695;31710640;31844290;31848261;31998317;32157095;32161166;32329246;32350084;32357974;32387766;32488085;32636443;32938616;32983136;33123756;33147444;33214551;33556408;33592498;33717175;33744299;33912179;33968037;33981976;34019948;34140478;34357683;34433824;34513728;34561969;34725712;35051231;35126886;35134439;35138101;35580925;35662396;36001342;36284347;36581221;37217939;37770430;37938771;38325743;38341472;38665916;38674334;3872140;40596516;40914422;5338216;5666113;7513165;7517401;7651724;7935795;7958932;7979252;7989588;8007942;8034572;8084588;8094051;8119488;8253074;8336698;8483502;8631758;8647804;8662509;8664345;8947042;9030599;9111318;9115221;9162089;9199364;9278512;9346962;9353119;9354661;9360956;9422786;9425086;9440696;9512661;9560246;9676189;9685210;9705322;9760192;9766809;9789079;9889122;9926927;9973413;9988689", "class_list": "", "function": "14-3-3 interaction with phosphodiesterase 8A sustains PKA signaling and downregulates the MAPK pathway., [RefSeq, PubMed]; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways (PubMed:14578935, PubMed:15071501, PubMed:15644438, PubMed:16376338, PubMed:16959763, PubMed:31024343, PubMed:9360956). Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif (PubMed:35662396). Binding generally results in the modulation of the activity of the binding partner (PubMed:35662396). Promotes cytosolic retention and inactivation of TFEB transcription factor by binding to phosphorylated TFEB (PubMed:35662396). Induces ARHGEF7 activity on RAC1 as well as lamellipodia and membrane ruffle formation (PubMed:16959763). In neurons, regulates spine maturation through the modulation of ARHGEF7 activity (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Structural Features and Physiological Associations of Human 14-3-3zeta Pseudogenes. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM65 promotes gastric tumorigenesis by targeting YWHAZ to activate PI3K-Akt-mTOR pathway and is a therapeutic target., [RefSeq, PubMed]; This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5' UTR but that encode the same protein have been identified for this gene. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 6, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K1N0;B7Z465;P29213;P29312;Q32P43;Q5XJ08;Q6GPI2;Q6IN74;Q6NUR9;Q6P3U9;Q86V33", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0019901 protein kinase binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001525 angiogenesis;GO:0003016 respiratory system process;GO:0006468 protein phosphorylation;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 40.5, "record_id": "P63104-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZZ6-1", "uniprot_id": "ACH10_HUMAN", "mass": 49705.0, "length": 450, "protein_name": "Neuronal acetylcholine receptor subunit alpha-10", "gene_name": "CHRNA10", "organism": "Human", "refseq_name": "neuronal acetylcholine receptor subunit alpha-10 isoform b", "refseq_ac": "NP_001289963", "gene_names_uniprotkb": "CHRNA10; NACHRA10", "gene_names_refseq": "CHRNA10", "protein_names_uniprotkb": "Neuronal acetylcholine receptor subunit alpha-10; NACHR alpha-10; Nicotinic acetylcholine receptor subunit alpha-10", "protein_names_refseq": "NACHR alpha-10; acetylcholine receptor, nicotinic, alpha 10 (neuronal); cholinergic receptor, nicotinic alpha 10; cholinergic receptor, nicotinic, alpha 10 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 10; neuronal acetylcholine receptor subunit alpha-10 isoform b; neuronal acetylcholine receptor subunit alpha-10; nicotinic acetylcholine receptor subunit alpha-10", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742)", "pathway": " (hsa:57053); (R-HSA-9667769)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "11237011;11350119;11752216;15531379;17373692;17559419;18723036;20231857;20584212;20934997;22774872;23481700;26395518;31092671;31844290;32929005;35051231", "class_list": "", "function": "A two order of magnitude species difference is reported in potency of alpha-conotoxin RgIA for rat versus human alpha9alpha10 nAChR., [RefSeq, PubMed]; Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (Probable). Forms heteropentamers with CHRNA9. Expressed in the inner ear, in sympathetic neurons and in other non-neuronal cells, such as skin keratinocytes and lymphocytes (PubMed:11752216, PubMed:15531379). nAChR formed by CHRNA9:CHRNA10 is involved in modulation of auditory stimuli. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, mediates synaptic transmission between efferent olivocochlear fibers and hair cells of the cochlea, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing (PubMed:11752216). This may protect against acoustic trauma. May also regulate keratinocyte adhesion (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Hair cell alpha9alpha10 nicotinic acetylcholine receptor functional expression regulated by ligand binding and deafness gene products., [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]", "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": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005262 calcium channel activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:0022850 serotonin-gated monoatomic cation channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0016020 membrane;GO:0030424 axon;GO:0043204 perikaryon", "go_biological_process": "GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007271 synaptic transmission, cholinergic;GO:0042127 regulation of cell population proliferation;GO:0042391 regulation of membrane potential;GO:0050910 detection of mechanical stimulus involved in sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9GZZ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P14416-1", "uniprot_id": "DRD2_HUMAN", "mass": 50619.0, "length": 443, "protein_name": "D(2) dopamine receptor", "gene_name": "DRD2", "organism": "Human", "refseq_name": "D(2) dopamine receptor isoform long", "refseq_ac": "NP_000786", "gene_names_uniprotkb": "DRD2", "gene_names_refseq": "D2DR; D2R; DRD2", "protein_names_uniprotkb": "D(2) dopamine receptor; Dopamine D2 receptor", "protein_names_refseq": "D(2) dopamine receptor isoform long; d(2) dopamine receptor; dopamine D2 receptor; seven transmembrane helix receptor", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); Parkinsonism (Disease Ontology:DOID:0080855); traumatic brain injury (Disease Ontology:DOID:0081292); migraine with aura (Disease Ontology:DOID:10024); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); Gilles de la Tourette syndrome (Disease Ontology:DOID:11119); hyperprolactinemia (Disease Ontology:DOID:12700); dementia (Disease Ontology:DOID:1307); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); drug psychosis (Disease Ontology:DOID:1742); anxiety disorder (Disease Ontology:DOID:2030); brain ischemia (Disease Ontology:DOID:2316); alcohol-induced mental disorder (Disease Ontology:DOID:251); opiate dependence (Disease Ontology:DOID:2559); morphine dependence (Disease Ontology:DOID:2560); toxic encephalopathy (Disease Ontology:DOID:3602); primary hyperaldosteronism (Disease Ontology:DOID:446); movement disease (Disease Ontology:DOID:480); schizophrenia (Disease Ontology:DOID:5419); ovarian hyperstimulation syndrome (Disease Ontology:DOID:5425); end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1813); (R-HSA-390651)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10220438;10716258;10719223;10739409;11237011;1363862;14060771;15389757;15857609;16362076;17264214;17550964;1826762;1835903;1840645;21179162;21184734;2129115;2137193;2138729;2144334;2144985;21645528;24391960;24715725;2531656;2532362;2533064;25979333;26535572;27908295;29466326;33425355;33859231;39012703;39103320;39187246;39265714;39300138;39425204;7902708;8471125", "class_list": "", "function": "A shared spatial topography links the functional connectome correlates of cocaine use disorder and dopamine D2/3 receptor densities. Erratum:[Commun Biol. 2025 Feb 23;8(1):293. doi: 10.1038/s42003-025-07723-7. PMID: 39988590] Publication Status: Online-Only, [RefSeq, PubMed]; Association Study Between DRD2, DRD3 Genetic Polymorphisms and Adverse Reactions in Chinese Patients on Amisulpride Treatment., [RefSeq, PubMed]; Association of genetic variants in CYP3A5, DRD2 and NK1R with opioid overdose., [RefSeq, PubMed]; DRD2 activation inhibits choroidal neovascularization in patients with Parkinson's disease and age-related macular degeneration. Publication Status: Online-Only, [RefSeq, PubMed]; Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase (PubMed:21645528, PubMed:39103320). Positively regulates postnatal regression of retinal hyaloid vessels via suppression of VEGFR2/KDR activity, downstream of OPN5 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase. Positively regulates postnatal regression of retinal hyaloid vessels via suppression of VEGFR2/KDR activity, downstream of OPN5., [UniProtKB, UniProtKB]; Exploring the influence of the DRD2 gene on mathematical ability: perspectives of gene association and gene-environment interaction. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 4, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 30, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q9NZR3;Q9UPA9", "ec_number_list": "", "go_molecular_function": "GO:0001591 dopamine neurotransmitter receptor activity, coupled via Gi/Go;GO:0004930 G protein-coupled receptor activity;GO:0042802 identical protein binding;GO:0015459 potassium channel regulator activity;GO:0032795 heterotrimeric G-protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0005929 cilium", "go_biological_process": "GO:0001976 nervous system process involved in regulation of systemic arterial blood pressure;GO:0030432 peristalsis;GO:0031223 auditory behavior;GO:0021984 adenohypophysis development;GO:0034776 response to histamine", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P14416-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P58340-1", "uniprot_id": "MLF1_HUMAN", "mass": 30627.0, "length": 268, "protein_name": "Myeloid leukemia factor 1", "gene_name": "MLF1", "organism": "Human", "refseq_name": "myeloid leukemia factor 1 isoform 2", "refseq_ac": "NP_001123628", "gene_names_uniprotkb": "MLF1", "gene_names_refseq": "MLF1", "protein_names_uniprotkb": "Myeloid leukemia factor 1; Myelodysplasia-myeloid leukemia factor 1", "protein_names_refseq": "myelodysplasia-myeloid leukemia factor 1; myeloid leukemia factor 1 isoform 2; testis tissue sperm-binding protein Li 49e", "tax_id": 9606, "disease": "", "pathway": " (hsa:4291)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;12176995;14506644;15116101;15861129;22151054;23186163;25576301;25645385;26992070;27600516;27920218;28218747;28832583;28904123;29242379;29393594;29508533;29557506;29786170;30779550;31154438;31222486;31530632;31675375;31844290;31848261;32157095;32357974;32387766;32488085;32703400;32897882;32938616;33298915;33537174;33592498;33717175;33968037;33981976;34087483;34171305;34405274;34509645;35051231;36010968;36241641;36284347;37486965;8570204", "class_list": "", "function": "CRL4(DCAF8) and USP11 oppositely regulate the stability of myeloid leukemia factors (MLFs)., [RefSeq, PubMed]; Epigenetic deregulation of MLF1 drives intrahepatic cholangiocarcinoma progression through EGFR/AKT and Wnt/beta-catenin signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in lineage commitment of primary hemopoietic progenitors by restricting erythroid formation and enhancing myeloid formation. Interferes with erythropoietin-induced erythroid terminal differentiation by preventing cells from exiting the cell cycle through suppression of CDKN1B/p27Kip1 levels. Suppresses COP1 activity via CSN3 which activates p53 and induces cell cycle arrest. Binds DNA and affects the expression of a number of genes so may function as a transcription factor in the nucleus., [UniProtKB, PubMed]; Phosphorylation of 14-3-3 binding site by MADM, [RefSeq, PubMed]; The abnormal gene regulation imposed by NPM-MLF1 can be characterized by the enhanced recruitment of NuRD to gene regulatory regions. Thus, different mechanisms would orchestrate the dysregulation of NPM function in NPMc+- versus NPM1-MLF1-associated leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; These findings suggest that an NPM/MLF1 fusion is the primary molecular abnormality in t(3;5) MDS and AML with multilineage dysplasia, and that cases with NPM/MLF1 may be clinically distinct from other MDS-associated disease, [RefSeq, PubMed]; This gene encodes an oncoprotein which is thought to play a role in the phenotypic determination of hemopoetic cells. Translocations between this gene and nucleophosmin have been associated with myelodysplastic syndrome and acute myeloid leukemia. Multiple transcript variants encoding different isoforms 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PEU9;Q2TLE3;Q2TLE5;Q8N8F8;Q96MH1", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005929 cilium;GO:0048471 perinuclear region of cytoplasm;GO:0036064 ciliary basal body", "go_biological_process": "GO:0002318 myeloid progenitor cell differentiation;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:1901796 regulation of signal transduction by p53 class mediator;GO:1902806 regulation of cell cycle G1/S phase transition", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "P58340-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00763-1", "uniprot_id": "ACACB_HUMAN", "mass": 276541.0, "length": 2458, "protein_name": "Acetyl-CoA carboxylase 2", "gene_name": "ACACB", "organism": "Human", "refseq_name": "acetyl-CoA carboxylase 2 isoform a", "refseq_ac": "NP_001084", "gene_names_uniprotkb": "ACACB; ACC2; ACCB", "gene_names_refseq": "ACACB; ACACbeta; ACC-beta; ACC2; ACCB; ACCbeta; HACC275", "protein_names_uniprotkb": "Acetyl-CoA carboxylase 2; 6.4.1.2; ACC-beta", "protein_names_refseq": "acetyl-CoA carboxylase 2 isoform a; acetyl-CoA carboxylase 2; acetyl-Coenzyme A carboxylase beta", "tax_id": 9606, "disease": "chromosome 17q12 deletion syndrome (Disease Ontology:DOID:0060404); muscular disease (Disease Ontology:DOID:0080000); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:32); (R-HSA-163765); (R-HSA-196780); (R-HSA-200425); (R-HSA-2426168)", "pathway_count": 5, "publication_count": 146, "publication_id_list": "10064314;10329687;10334869;10400691;10559218;10677481;10759542;11237011;11356169;11414710;11790793;12083769;12177166;12413941;12488245;12646417;12764144;1377680;14517221;14532170;14613924;14711372;14742444;14766011;15060529;15664996;16134170;16150625;16644726;16854592;16885160;17148476;17223360;17449569;17876819;17925399;18247344;18297087;18556348;18559965;18614941;18654640;18669648;18682402;18726356;18772397;19190759;19236960;19390150;1968462;19900410;20138239;20153287;20166139;20233797;20450493;20457939;20538056;20719759;20937905;20952656;21183659;22123817;22634312;22871568;24275569;24277613;24715725;24740690;25418920;25645385;26811146;26828774;26976583;26992070;27600516;27846572;28218747;28514659;2868710;28832583;28834231;29242379;29493099;29557506;29632711;29772612;29786170;30524438;31548259;31844290;32157095;32357974;32387766;32897882;32938616;33091337;33141586;33392160;33537174;33957017;33968037;34085602;34171305;34185709;34509645;34939260;35051231;35318648;35494241;35580925;36010968;36111743;36215666;36241641;37938771;38253038;6883721;7509806;7567999;7592729;7711730;7732023;7909540;8020941;8619637;8626466;8626488;8647822;8663599;8670171;8798690;8930409;8976377;9048718;9099716;9148944;9344464;9399886;9604010;9630604;9634533;9685390;9691089;9706223;9748295", "class_list": "", "function": "ACACB is a novel metabolism-related biomarker in the prediction of response to cetuximab therapy inmetastatic colorectal cancer., [RefSeq, PubMed]; Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. [provided by RefSeq, Oct 2022]., [RefSeq]; Acetyl-coenzyme A carboxylase beta gene polymorphism does not predict cardiovascular risk susceptibility in Chinese type 2 diabetic individuals., [RefSeq, PubMed]; Faster lipid beta-oxidation rate by acetyl-CoA carboxylase 2 inhibition alleviates high-glucose-induced insulin resistance via SIRT1/PGC-1alpha in human podocytes., [RefSeq, PubMed]; Identification of core gene in obese type 2 diabetes patients using bioinformatics analysis., [RefSeq, PubMed]; Mitochondrial enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA and plays a central role in fatty acid metabolism (PubMed:16854592, PubMed:19236960, PubMed:19900410, PubMed:20457939, PubMed:20952656, PubMed:26976583). Catalyzes a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA (PubMed:19236960, PubMed:20457939, PubMed:20952656, PubMed:26976583). Through the production of malonyl-CoA that allosterically inhibits carnitine palmitoyltransferase 1 at the mitochondria, negatively regulates fatty acid oxidation (By similarity). Together with its cytosolic isozyme ACACA, which is involved in de novo fatty acid biosynthesis, promotes lipid storage (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Results identified ACC2 amino acid mutations affecting specific inhibition of the isozyme by compound CD-017-0191. They form two clusters separated by 60-90 A: one located in the vicinity of the BC active site and the other one in the vicinity of the ACC1 phosphorylation sites in the central domain, suggesting a contribution of the interface of two ACC dimers in the polymer to the inhibitor binding site., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 60, "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": "A6NK36;Q16852;Q1HEC1;Q6KE87;Q6KE89;Q6TY48", "ec_number_list": "6.4.1.2;6.3.4.-;6.3.4.10;6.3.4.11;6.3.4.15;6.3.4.9;2.7.11.1;2.7.11.31", "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0003989 acetyl-CoA carboxylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0006084 acetyl-CoA metabolic process;GO:0006633 fatty acid biosynthetic process;GO:0010884 positive regulation of lipid storage;GO:0010906 regulation of glucose metabolic process", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "O00763-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N9N5-1", "uniprot_id": "BANP_HUMAN", "mass": 56494.0, "length": 519, "protein_name": "Protein BANP", "gene_name": "BANP", "organism": "Human", "refseq_name": "protein BANP isoform c", "refseq_ac": "NP_001167010", "gene_names_uniprotkb": "BANP; BEND1; SMAR1", "gene_names_refseq": "BANP; BEND1; SMAR1; SMARBP1", "protein_names_uniprotkb": "Protein BANP; BEN domain-containing protein 1; Btg3-associated nuclear protein; Scaffold/matrix-associated region-1-binding protein", "protein_names_refseq": "BEN domain-containing protein 1; protein BANP isoform c; scaffold/matrix-associated region-1-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:54971); (R-HSA-6804759); (R-HSA-9766229)", "pathway_count": 3, "publication_count": 59, "publication_id_list": "10329733;10940556;10950932;11237011;11684014;12203124;12494467;12524540;14517306;14729977;15598651;15623522;16166625;16382142;17145718;17719541;18275817;18676979;19303885;20075864;22538442;22864287;22975685;23186163;23301498;23481700;24275569;24714389;25253721;25356872;25576301;26080397;26280083;27600516;28218747;28904123;29242379;29356040;29393594;29437277;29557506;31844290;32387766;32897882;32938616;33298915;33968037;34087483;34509645;35051231;35580925;36010968;36284347;37086783;37217939;37817309;38168028;38169650;39225042", "class_list": "", "function": "BANP Participates in the Chronic Intermittent Hypoxia-Induced Senescence of Vascular Endothelial Cells by Promoting P53 Phosphorylation and Nuclear Retention., [RefSeq, PubMed]; Controls V(D)J recombination during T-cell development by repressing T-cell receptor (TCR) beta enhancer function (By similarity). Binds to scaffold/matrix attachment region beta (S/MARbeta), an ATC-rich DNA sequence located upstream of the TCR beta enhancer (By similarity). Represses cyclin D1 transcription by recruiting HDAC1 to its promoter, thereby diminishing H3K9ac, H3S10ph and H4K8ac levels (PubMed:16166625). Promotes TP53 activation, which causes cell cycle arrest (By similarity). Plays a role in the regulation of alternative splicing (PubMed:26080397). Binds to CD44 pre-mRNA and negatively regulates the inclusion of CD44 proximal variable exons v2-v6 but has no effect on distal variable exons v7-v10 (PubMed:26080397)., [UniProtKB, UniProtKB, PubMed, PubMed]; Identification of a novel mouse MAR-binding protein, named SMAR1, which shares homology with SATB1 and Cux in the MAR-binding domain/Cut repeat and also with the tetramerization domain of a B cell-specific MAR-binding protein, Bright., [RefSeq, PubMed]; Nuclear Matrix-associated Protein SMAR1 Attenuated Acute Graft-versus-host Disease by Targeting JAK-STAT Signaling in CD4 + T Cells., [RefSeq, PubMed]; SMAR1 plays an important role in the regulation of T cell development as well as V(D)J recombination, [RefSeq, PubMed]; Structural basis of DNA recognition by BEN domain proteins reveals a role for oligomerization in unmethylated DNA selection by BANP., [RefSeq, PubMed]; Structural insights into DNA recognition by the BEN domain of the transcription factor BANP., [RefSeq, PubMed]; This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]., [RefSeq]; 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8MU25;A8MX25;B2RCF7;B4DNJ9;F5GZM0;Q96GJ7;Q9NWY1", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0016604 nuclear body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006325 chromatin organization;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q8N9N5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96DZ9-1", "uniprot_id": "CKLF5_HUMAN", "mass": 24653.0, "length": 223, "protein_name": "CKLF-like MARVEL transmembrane domain-containing protein 5", "gene_name": "CMTM5", "organism": "Human", "refseq_name": "CKLF-like MARVEL transmembrane domain-containing protein 5 isoform c", "refseq_ac": "NP_001032365", "gene_names_uniprotkb": "CMTM5; CKLFSF5", "gene_names_refseq": "CKLFSF5; CMTM5", "protein_names_uniprotkb": "CKLF-like MARVEL transmembrane domain-containing protein 5; Chemokine-like factor superfamily member 5", "protein_names_refseq": "CKLF-like MARVEL transmembrane domain-containing protein 5 isoform c; chemokine-like factor super family 5; chemokine-like factor superfamily member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:116173)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;12782130;17908965;19124004;19577543;20356458;26154972;27862975;28832583;29557506;31154438;32568178;33047719;33331317;34791506;35580925;39166861", "class_list": "", "function": "Bioinformatics based on CKLF2 cDNA and protein sequences in combination with experimental validation identified CKLFSF1-8 gene clusters, between the SCY and the TM4SF gene families. The 8 family members were cloned and characterized., [RefSeq, PubMed]; CMTM5 exhibits tumor suppressor activities, but with frequent epigenetic inactivation in carcinoma cell lines Erratum:[Clin Cancer Res. 2007 Nov 1;13(21):6543], [RefSeq, PubMed]; CMTM5 influences Hippo/YAP axis to promote ferroptosis in glioma through regulating WWP2-mediated LATS2 ubiquitination., [RefSeq, PubMed]; CMTM5 inhibits the development of prostate cancer via the EGFR/PI3K/AKT signaling pathway., [RefSeq, PubMed]; CMTM5 may play a role in the pancreatic cancer., [RefSeq, PubMed]; CMTM5-v1 might be secreted via a different vesicle-mediated secretory pathway, which will be helpful for the studies of vesicle-mediated secretion and MARVEL domain-containing proteins., [RefSeq, PubMed]; CMTM5/7 are biomarkers and prognostic factors in human breast carcinoma., [RefSeq, PubMed]; These findings verify that CMTM5-v1 inhibits the growth of CC cell lines via inducing apoptosis., [RefSeq, PubMed]; This gene encodes a member of the chemokine-like factor superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. The encoded protein may exhibit tumor suppressor activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]; [Association between CMTM5 gene and coronary artery disease and the relative mechanism]., [RefSeq, PubMed]; [Association of CMTM5 gene expression with the risk of in-stent restenosis in patients with coronary artery disease after drug-eluting stent implantation and the effects and mechanisms of CMTM5 on human vascular endothelial cells]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "E9PH91;Q5PY48", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane", "go_biological_process": "GO:0006935 chemotaxis", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q96DZ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15323-1", "uniprot_id": "K1H1_HUMAN", "mass": 47237.0, "length": 416, "protein_name": "Keratin, type I cuticular Ha1", "gene_name": "KRT31", "organism": "Human", "refseq_name": "keratin, type I cuticular Ha1", "refseq_ac": "NP_002268", "gene_names_uniprotkb": "KRT31; HHA1; HKA1; KRTHA1", "gene_names_refseq": "HA1; Ha-1; KRT31; KRTHA1; hHa1", "protein_names_uniprotkb": "Keratin, type I cuticular Ha1; Hair keratin, type I Ha1; K31; Keratin-31", "protein_names_refseq": "K31; hair keratin, type I Ha1; hard keratin, type I, 1; keratin 31, type I; keratin, hair, acidic,1; keratin, type I cuticular Ha1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3881); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 57, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;22827898;23481192;23629652;2414304;25208914;25926655;26390218;26853435;31975318;32938616;34019948;34357683;36241641;7543090;7578244;8824274;8999895;9395522;9457912;9468612;9565599;9756910", "class_list": "", "function": "K31 as a novel marker for clear secretory cells in human eccrine sweat glands., [RefSeq, PubMed]; The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9UE12", "ec_number_list": "", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0005882 intermediate filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0008544 epidermis development;GO:0045109 intermediate filament organization;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q15323-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43628-1", "uniprot_id": "KI2L3_HUMAN", "mass": 37886.0, "length": 341, "protein_name": "Killer cell immunoglobulin-like receptor 2DL3", "gene_name": "KIR2DL3", "organism": "Human", "refseq_name": "killer cell immunoglobulin-like receptor 2DL3 precursor", "refseq_ac": "NP_056952", "gene_names_uniprotkb": "KIR2DL3; CD158B2; KIRCL23; NKAT2", "gene_names_refseq": "CD158B2; CD158b; GL183; KIR-023GB; KIR-K7b; KIR-K7c; KIR2DL3; KIR2DL; KIRCL23; NKAT-2; NKAT2A; NKAT2B; NKAT2; NKAT; p58", "protein_names_uniprotkb": "Killer cell immunoglobulin-like receptor 2DL3; CD158 antigen-like family member B2; KIR-023GB; Killer inhibitory receptor cl 2-3; NKAT-2; NKAT2a; NKAT2b; Natural killer-associated transcript 2; p58 NK receptor CL-6; p58 natural killer cell receptor clone CL-6; p58.2 MHC class-I-specific NK receptor", "protein_names_refseq": "CD158 antigen-like family member B2; killer cell immunoglobulin-like receptor 2DL3 precursor; killer cell immunoglobulin-like receptor 2DL3; killer cell immunoglobulin-like receptor two domains long cytoplasmic tail 3; killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5; killer inhibitory receptor cl 2-3; natural killer associated transcript 2; natural killer cell inhibitory receptor KIR2DL3; p58 NK receptor CL-6; p58 natural killer cell receptor clone CL-6; p58.2 MHC class-I specific NK receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:3804); (R-HSA-198933)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10.1101/2023.09.13.557529;10196125;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;18604210;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;25703557;25716998;26284469;26300885;33846289;34948123;35537400;37874432;38837671;7531291;7542404;7716543;7749980;8178173;8574854;8648092;8662091;8691154;8995416;9059894;9148918;9234478;9285412;9314561;9430221;9700512;9730896", "class_list": "", "function": "A single nucleotide substitution in exon 5 generated the novel KIR2DL3*00112 allele., [RefSeq, PubMed]; Association study between killer immunoglobulin-like receptor polymorphisms and susceptibility to COVID-19 disease: a systematic review and meta-analysis., [RefSeq, PubMed]; Clinical Impact of KIR2DS3 and KIR2DL3 Genes in Neuroblastoma Patients., [RefSeq, PubMed]; Increased Susceptibility of the CD57(-) NK Cells Expressing KIR2DL2/3 and NKG2C to iCasp9 Gene Retroviral Transduction and the Relationships with Proliferative Potential, Activation Degree, and Death Induction Response. Publication Status: Online-Only, [RefSeq, PubMed]; Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]., [RefSeq]; Receptor on natural killer (NK) cells for HLA-C alleles (HLA-Cw1, HLA-Cw3 and HLA-Cw7). Inhibits the activity of NK cells thus preventing cell lysis., [UniProtKB]; Structural plasticity of KIR2DL2 and KIR2DL3 enables altered docking geometries atop HLA-C. 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": 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": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "O43472;P78402;Q14944;Q14945;Q9UM51;Q9UQ70", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0042802 identical protein binding;GO:0003823 antigen binding;GO:0038023 signaling receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "P43628-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQT8-1", "uniprot_id": "KI13B_HUMAN", "mass": 202789.0, "length": 1826, "protein_name": "Kinesin-like protein KIF13B", "gene_name": "KIF13B", "organism": "Human", "refseq_name": "kinesin-like protein KIF13B", "refseq_ac": "NP_056069", "gene_names_uniprotkb": "KIF13B; GAKIN; KIAA0639", "gene_names_refseq": "GAKIN; KIF13B", "protein_names_uniprotkb": "Kinesin-like protein KIF13B; Kinesin-like protein GAKIN", "protein_names_refseq": "guanylate kinase associated kinesin; kinesin 13B; kinesin-like protein GAKIN; kinesin-like protein KIF13B", "tax_id": 9606, "disease": "", "pathway": " (hsa:23303); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 3, "publication_count": 184, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10859302;10921873;11172815;11237011;11493604;11689559;11703931;11726511;11739780;11748249;11782313;12047556;12070132;12368902;1406973;14504276;14654841;15029241;15037235;15272311;15326200;15616190;15632110;15813748;16030262;1607388;16262723;1631136;16571679;16633337;1680566;16864656;16912714;16926190;16940185;17113389;17253781;17322306;17346968;17360540;17429068;17451557;17525332;17538014;17696365;17760859;17927562;17956946;18088087;18182008;18287528;18342609;18510355;18524849;18669648;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1957170;19631211;19664994;19690332;19758564;20005805;20058876;20068231;20136777;20166139;20194617;20357002;20427317;20462495;20534429;20637885;21219331;2142332;21550981;21689688;21844168;22013193;22094269;22304919;23077056;23186163;23396477;24275569;24714562;2521221;2522352;25364732;25436559;25492864;25576301;25645385;25892735;26728094;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29351928;29393594;29493099;29557506;29769354;30192525;30315122;30429286;30833945;31154438;31217245;3130248;3134048;31530632;31550741;31844290;31848261;31998317;32157095;32161166;32350084;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34171305;34185709;34509645;35051231;35403186;35580925;36010968;36284347;36928770;37938771;7528108;7539720;7822426;7844144;7929562;8001155;8128252;8132710;8221884;8253837;8505331;8548803;8599929;8602245;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "Binding of the SH3-I3-GUK module of hDlg to GAKIN activates the microtubule-stimulated ATPase activity of GAKIN by approximately 10-fold. We propose: the cargo-mediated regulation of motor activity is a general paradigm for the activation of kinesins., [RefSeq, PubMed]; Changes in Protein Glycosylation as a Result of Aptamer Interactions with Cancer Cells., [RefSeq, PubMed]; Involved in reorganization of the cortical cytoskeleton. Regulates axon formation by promoting the formation of extra axons. May be functionally important for the intracellular trafficking of MAGUKs and associated protein complexes., [UniProtKB, PubMed]; KIF13B mediates VEGFR2 recycling to modulate vascular permeability. Publication Status: Online-Only, [RefSeq, PubMed]; These results reveal that GAKIN/KIF13B is a key intermediate linking Par1b to the regulation of axon formation., [RefSeq, PubMed]; These results suggest that, in neurons, the GAKIN-PIP3BP complex transports PIP3 to the neurite ends and regulates neuronal polarity formation., [RefSeq, PubMed]; Transient accumulation and bidirectional movement of KIF13B in primary cilia., [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": 25, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 46, "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": "B4DGY5;B5MC45;F8VPJ2;O75134;Q9BYJ6", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0019901 protein kinase binding;GO:0016887 ATP hydrolysis activity;GO:0071889 14-3-3 protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0030424 axon;GO:0005871 kinesin complex", "go_biological_process": "GO:0050770 regulation of axonogenesis;GO:0007165 signal transduction;GO:0006605 protein targeting;GO:0042110 T cell activation;GO:0007018 microtubule-based movement", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "Q9NQT8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75928-1", "uniprot_id": "PIAS2_HUMAN", "mass": 68240.0, "length": 621, "protein_name": "E3 SUMO-protein ligase PIAS2", "gene_name": "PIAS2", "organism": "Human", "refseq_name": "E3 SUMO-protein ligase PIAS2 isoform NY", "refseq_ac": "NP_001310989", "gene_names_uniprotkb": "PIAS2; PIASX", "gene_names_refseq": "ARIP3; DIP; MIZ1; PIAS2; PIASX; SIZ2; ZMIZ4", "protein_names_uniprotkb": "E3 SUMO-protein ligase PIAS2; 2.3.2.-; ARIP3; Androgen receptor-interacting protein 3; DAB2-interacting protein; DIP; E3 SUMO-protein transferase PIAS2; Miz1; Msx-interacting zinc finger protein; PIAS-NY protein; Protein inhibitor of activated STAT x; Protein inhibitor of activated STAT2", "protein_names_refseq": "DAB2-interacting protein; E3 SUMO-protein ligase PIAS2 isoform NY; E3 SUMO-protein ligase PIAS2; E3 SUMO-protein transferase PIAS2; androgen receptor-interacting protein 3; msx-interacting zinc finger protein; protein inhibitor of activated STAT X; zinc finger, MIZ-type containing 4", "tax_id": 9606, "disease": "hematologic cancer (Disease Ontology:DOID:2531)", "pathway": " (hsa:9063); (R-HSA-5617472)", "pathway_count": 2, "publication_count": 102, "publication_id_list": "10.1101/2023.09.13.557529;10777502;10961991;11237011;11439351;11477070;11867732;12223491;12393906;12716907;15208321;15301740;15867264;15920481;15976810;16079151;16204249;16549775;16617055;16713578;17185360;17428788;1756725;17660710;17713478;17761849;17851529;18781158;19115252;19232136;19651622;19664995;19747919;1975088;19782034;19854132;20068231;20085832;21156324;21406692;22406621;22569366;22705304;22879880;23219899;23481700;23534758;23630040;24174538;24312487;24586203;25101834;25135475;25218447;2570724;25755297;25772364;25913784;26728094;27920218;28228285;28832583;28834231;28842558;29393594;30315122;30410026;30524438;31844290;32157095;32387766;32897882;32983136;33214551;33717175;33763841;33912179;33968037;34019948;34234281;34932366;35051231;35580925;36010968;36241641;36251411;37938771;38665916;38744818;38838015;7488013;7501971;7831296;7906964;7908827;8674428;8759021;9218805;9272954;9482740;9724754;9920921", "class_list": "", "function": "DsRNAi-mediated silencing of PIAS2beta specifically kills anaplastic carcinomas by mitotic catastrophe. Erratum:[Nat Commun. 2024 Jul 11;15(1):5835. doi: 10.1038/s41467-024-50135-0. PMID: 38992026] Publication Status: Online-Only, [RefSeq, PubMed]; Expression of PIAS Genes in Migraine Patients., [RefSeq, PubMed]; Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulator in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. The effects of this transcriptional coregulation, transactivation or silencing may vary depending upon the biological context and the PIAS2 isoform studied. However, it seems to be mostly involved in gene silencing. Binds to sumoylated ELK1 and enhances its transcriptional activity by preventing recruitment of HDAC2 by ELK1, thus reversing SUMO-mediated repression of ELK1 transactivation activity. Isoform PIAS2-beta, but not isoform PIAS2-alpha, promotes MDM2 sumoylation. Isoform PIAS2-alpha promotes PARK7 sumoylation. Isoform PIAS2-beta promotes NCOA2 sumoylation more efficiently than isoform PIAS2-alpha. Isoform PIAS2-alpha sumoylates PML at'Lys-65' and 'Lys-160'., [UniProtKB, PubMed, PubMed, PubMed]; Integrative transcriptome analysis reveals TEKT2 and PIAS2 involvement in diabetic nephropathy., [RefSeq, PubMed]; PIAS2-mediated blockade of IFN-beta signaling: a basis for sporadic Parkinson disease dementia., [RefSeq, PubMed]; This gene encodes a member of the protein inhibitor of activated STAT family, which function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 8, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O75927;Q96BT5;Q96KE3", "ec_number_list": "2.1.1.364;1.14.11.68;2.3.2.-;3.1.13.-;2.7.7.48;2.7.7.6;2.3.1.48;2.3.1.-", "go_molecular_function": "GO:0061665 SUMO ligase activity;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0016605 PML body;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0016925 protein sumoylation;GO:0030968 endoplasmic reticulum unfolded protein response;GO:0060766 negative regulation of androgen receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "O75928-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99714-1", "uniprot_id": "HCD2_HUMAN", "mass": 26923.0, "length": 261, "protein_name": "3-hydroxyacyl-CoA dehydrogenase type-2", "gene_name": "HSD17B10", "organism": "Human", "refseq_name": "3-hydroxyacyl-CoA dehydrogenase type-2 isoform 2", "refseq_ac": "NP_001032900", "gene_names_uniprotkb": "HSD17B10; ERAB; HADH2; MRPP2; SCHAD; SDR5C1; XH98G2", "gene_names_refseq": "17b-HSD10; ABAD; CAMR; DUPXp11.22; ERAB; HADH2; HCD2; HSD10MD; HSD17B10; MHBD; MRPP2; MRX17; MRX31; MRXS10; SCHAD; SDR5C1", "protein_names_uniprotkb": "3-hydroxyacyl-CoA dehydrogenase type-2; 1.1.1.159; 1.1.1.178; 1.1.1.239; 1.1.1.35; 1.1.1.53; 1.1.1.62; 17-beta-estradiol 17-dehydrogenase; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase; 3-alpha-(17-beta)-hydroxysteroid dehydrogenase (NAD(+)); 3-hydroxy-2-methylbutyryl-CoA dehydrogenase; 3-hydroxyacyl-CoA dehydrogenase type II; 3alpha(or 20beta)-hydroxysteroid dehydrogenase; 7-alpha-hydroxysteroid dehydrogenase; Endoplasmic reticulum-associated amyloid beta-peptide-binding protein; MHBD; Mitochondrial RNase P protein 2; Mitochondrial ribonuclease P protein 2; Short chain dehydrogenase/reductase family 5C member 1; Short-chain type dehydrogenase/reductase XH98G2; Type II HADH", "protein_names_refseq": "3-hydroxy-2-methylbutyryl-CoA dehydrogenase; 3-hydroxyacyl-CoA dehydrogenase type-2 isoform 2; AB-binding alcohol dehydrogenase; amyloid-beta peptide binding alcohol dehydrogenase; endoplasmic reticulum-associated amyloid beta-peptide-binding protein; mitochondrial RNase P subunit 2; mitochondrial ribonuclease P protein 2; short chain L-3-hydroxyacyl-CoA dehydrogenase type 2; short chain type dehydrogenase/reductase XH98G2", "tax_id": 9606, "disease": "pheochromocytoma (Disease Ontology:DOID:0050771); syndromic X-linked intellectual disability type 10 (Disease Ontology:DOID:0060810); Alzheimer's disease (Disease Ontology:DOID:10652); osteosarcoma (Disease Ontology:DOID:3347)", "pathway": " (hsa:3028); (R-HSA-6785470); (R-HSA-6787450); (R-HSA-70895); (R-HSA-8868766); (R-HSA-9837999)", "pathway_count": 6, "publication_count": 211, "publication_id_list": "10600649;10832746;10947204;11013134;11181649;11237011;11264579;11406611;11504732;11738050;11923310;12198491;12269802;12359132;12434311;12456664;12621050;12696021;12917011;13416257;14623864;14752098;15087549;15166214;1527093;15342248;15509579;15522782;15576032;15870080;16023992;16115876;16141215;16148061;16408927;16826519;17101804;17236142;17297443;17371050;17579211;18452278;18566446;18984158;18996107;19117535;19706438;19732863;19841671;20077426;21559454;21593607;21857155;21890497;22132097;22262461;22291014;22336717;22544926;22608499;22710082;22956686;22991464;23042678;23097428;23201127;23301498;23481700;23485643;23625533;23783831;23814040;23849775;23929671;23931759;24126054;24315374;24366607;24449431;24520911;24549042;24703694;24715725;24901367;25007702;25193871;25418920;25552653;25575635;25576301;25645385;25652405;25925575;25928769;25953853;26016801;26154972;26251176;26338420;26375851;26504172;26811146;26923599;26929215;26950678;26992070;27090790;27496948;27600516;27642048;27655845;27920218;28228285;28377575;28396416;28510447;28832583;28888424;28904123;29040705;29242379;29301859;29390138;29393594;29485866;29493099;29508533;29557506;29632046;29760464;29786170;29932645;30120231;30315122;30429286;30444036;30484775;30779550;3082934;31327635;31435015;31695197;31844290;31848261;31937595;31998317;32047918;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33141586;33257573;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34211107;34229054;34357683;34405274;34509645;34561969;34704252;34725712;34932366;34943861;35051231;35083852;35132862;35154160;35561310;35870450;3597357;36010968;36215666;36241641;36629048;37217939;37239833;37938771;38139430;38665916;38684297;40596516;40914422;6928646;7356336;7623837;8824301;9165094;9214289;9338779;9512533;9553139;9671743;9889013", "class_list": "", "function": "Defects in this gene are a cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. The encoded protein does not exhibit generalized alcohol dehydrogenase activity as was previously thought. Review article, [RefSeq, PubMed]; In addition to mitochondrial dehydrogenase activity, moonlights as a component of mitochondrial ribonuclease P, a complex that cleaves tRNA molecules in their 5'-ends (PubMed:18984158, PubMed:24549042, PubMed:25925575, PubMed:26950678, PubMed:28888424). Together with TRMT10C/MRPP1, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; HSD17B10/MRPP2 acting as a non-catalytic subunit (PubMed:23042678, PubMed:25925575, PubMed:28888424). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5'-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3'-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Infantile Neurodegeneration Results from Mutants of 17beta-Hydroxysteroid Dehydrogenase Type 10 Rather Than Abeta-Binding Alcohol Dehydrogenase. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Involvement of Type 10 17beta-Hydroxysteroid Dehydrogenase in the Pathogenesis of Infantile Neurodegeneration and Alzheimer's Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial dehydrogenase involved in pathways of fatty acid, branched-chain amino acid and steroid metabolism (PubMed:10600649, PubMed:12917011, PubMed:18996107, PubMed:19706438, PubMed:20077426, PubMed:25925575, PubMed:26950678, PubMed:28888424, PubMed:9553139). Acts as (S)-3-hydroxyacyl-CoA dehydrogenase in mitochondrial fatty acid beta-oxidation, a major degradation pathway of fatty acids. Catalyzes the third step in the beta-oxidation cycle, namely the reversible conversion of (S)-3-hydroxyacyl-CoA to 3-ketoacyl-CoA. Preferentially accepts straight medium- and short-chain acyl-CoA substrates with highest efficiency for (3S)-hydroxybutanoyl-CoA (PubMed:10600649, PubMed:12917011, PubMed:25925575, PubMed:26950678, PubMed:9553139). Acts as 3-hydroxy-2-methylbutyryl-CoA dehydrogenase in branched-chain amino acid catabolic pathway. Catalyzes the oxidation of 3-hydroxy-2-methylbutanoyl-CoA into 2-methyl-3-oxobutanoyl-CoA, a step in isoleucine degradation pathway (PubMed:18996107, PubMed:19706438, PubMed:20077426). Has hydroxysteroid dehydrogenase activity toward steroid hormones and bile acids. Catalyzes the oxidation of 3alpha-, 17beta-, 20beta- and 21-hydroxysteroids and 7alpha- and 7beta-hydroxy bile acids (PubMed:10600649, PubMed:12917011). Oxidizes allopregnanolone/brexanolone at the 3alpha-hydroxyl group, which is known to be critical for the activation of gamma-aminobutyric acid receptors (GABAARs) chloride channel (PubMed:19706438, PubMed:28888424). Has phospholipase C-like activity toward cardiolipin and its oxidized species. Likely oxidizes the 2'-hydroxyl in the head group of cardiolipin to form a ketone intermediate that undergoes nucleophilic attack by water and fragments into diacylglycerol, dihydroxyacetone and orthophosphate. Has higher affinity for cardiolipin with oxidized fatty acids and may degrade these species during the oxidative stress response to protect cells from apoptosis (PubMed:26338420). By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD) (PubMed:9338779). Essential for structural and functional integrity of mitochondria (PubMed:20077426)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]., [RefSeq]; [Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "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": "Q5H927;Q6IBS9;Q8TCV9;Q96HD5", "ec_number_list": "1.1.1.62;1.1.1.239;1.1.1.105;1.1.1.209;1.1.1.53;3.1.26.5;2.3.3.1;1.1.1.315;1.4.1.3;1.2.1.3;6.4.1.3;7.1.2.2;4.2.1.2;5.6.1.7;1.2.4.1;2.3.1.168;2.3.1.-;1.1.1.51;1.1.1.-;1.1.1.225;1.1.1.357;1.1.1.210;4.98.1.1;1.1.1.38;2.3.1.9;7.1.1.2;1.2.1.36;1.7.1.-;1.2.1.28;3.4.21.53;3.6.4.10;1.1.1.37;4.2.1.17;1.1.1.211;5.3.3.8;1.1.1.188;1.1.1.64;1.3.8.1;1.3.8.5;3.1.2.2;1.1.1.112;1.3.1.20;2.3.3.10;2.8.3.5;3.5.3.1;1.2.4.2;1.1.1.270;1.1.1.149;1.1.1.35;5.3.3.21;2.7.11.2;2.7.11.-;2.7.1.23;1.1.1.330;2.1.1.-;2.1.1.218;2.1.1.221;1.1.1.n12;5.6.2.3;1.1.1.178;1.1.1.159;4.2.1.3;3.1.26.11;6.1.1.5;2.3.1.41", "go_molecular_function": "GO:0003723 RNA binding;GO:0000049 tRNA binding;GO:0004303 estradiol 17-beta-dehydrogenase [NAD(P)+] activity;GO:0047035 testosterone dehydrogenase (NAD+) activity;GO:0044594 17-beta-hydroxysteroid dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005886 plasma membrane;GO:0042645 mitochondrial nucleoid", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0062173 brexanolone metabolic process;GO:0006629 lipid metabolic process;GO:0006631 fatty acid metabolic process;GO:0006635 fatty acid beta-oxidation", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "Q99714-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13085-1", "uniprot_id": "ACACA_HUMAN", "mass": 265554.0, "length": 2346, "protein_name": "Acetyl-CoA carboxylase 1", "gene_name": "ACACA", "organism": "Human", "refseq_name": "acetyl-CoA carboxylase 1 isoform 1", "refseq_ac": "NP_942131", "gene_names_uniprotkb": "ACACA; ACAC; ACC1; ACCA", "gene_names_refseq": "ACACAD; ACACA; ACACalpha; ACAC; ACC1; ACCA; ACCalpha; ACC; Acac1; hACC1", "protein_names_uniprotkb": "Acetyl-CoA carboxylase 1; 6.4.1.2; ACC-alpha; ACC1; Acetyl-Coenzyme A carboxylase alpha", "protein_names_refseq": "ACC-alpha; acetyl-CoA carboxylase 1 isoform 1; acetyl-CoA carboxylase 1; acetyl-Coenzyme A carboxylase alpha", "tax_id": 9606, "disease": "chromosome 17q12 deletion syndrome (Disease Ontology:DOID:0060404); muscular disease (Disease Ontology:DOID:0080000); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); steatotic liver disease (Disease Ontology:DOID:9452); acetyl-coa carboxylase deficiency (MONDO:MONDO:0013493)", "pathway": " (hsa:31); (R-HSA-163765); (R-HSA-196780); (R-HSA-200425); (R-HSA-2426168); (R-HSA-3371599); (R-HSA-75105)", "pathway_count": 7, "publication_count": 234, "publication_id_list": "10064314;10190325;10229681;10329687;10334869;10400691;10559218;10677481;10759542;11185745;11237011;11356169;11414710;11735028;11790793;12015362;12083769;12124727;12177166;12360400;12646417;12689621;12764144;12810950;13651131;1371749;1377680;14517221;14643797;14711372;14742444;14766011;15060529;15333468;15607423;15610069;15664996;15668256;15907797;16134170;16150625;16326698;16644726;16698035;16854592;16885160;16959974;17081983;17148476;17223360;17287340;17449569;17519230;17898086;17925399;17978863;18212344;18220336;18297087;18452278;18452305;18455495;18487259;18556348;18559965;18654640;18669648;18682402;18691976;18707149;18726356;18767875;19061860;19369195;19413330;19415658;19571038;19608861;19651622;19664994;19664995;1968462;19690332;20068231;20112406;20138239;20153287;20166139;20233797;20450493;20457939;20470824;20538056;20719759;20937905;20952656;21183659;21406692;22102020;22123817;22465940;22634312;22871568;23186163;23481700;23700546;23932781;24275569;24277613;24286864;24397554;24714562;24715725;25203508;25418920;25576301;25645385;25880248;26154972;26811146;26828774;26992070;27846572;27892461;27920218;28228285;28510447;2868710;28832583;28834231;28904123;2900138;2900140;29242379;29393594;29437277;29508533;29557506;29632046;29899443;30315122;30410026;30484775;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31937595;32119511;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34509645;34561969;34725712;34932366;35008409;35051231;35083852;35138101;35561310;35580925;36010968;36241641;36581221;36972768;36976490;37002924;37217939;37845385;3805044;5810867;6114432;627544;6883721;7509806;7567999;7592729;7711730;7732023;7842009;7901201;7907095;7909540;7915280;7916016;8020941;8619637;8626466;8626488;8647822;8663599;8798690;8817339;8930409;8976377;9048718;9099716;9341199;9344464;9399886;9604010;9630604;9634533;9685390;9691089;9706223;9748295", "class_list": "", "function": "Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; CDK13 promotes lipid deposition and prostate cancer progression by stimulating NSUN5-mediated m5C modification of ACC1 mRNA., [RefSeq, PubMed]; Cytosolic enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the first and rate-limiting step of de novo fatty acid biosynthesis (PubMed:20457939, PubMed:20952656, PubMed:29899443). This is a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA (PubMed:20457939, PubMed:20952656, PubMed:29899443)., [UniProtKB, PubMed, PubMed, PubMed]; Diminishing acetyl-CoA carboxylase 1 attenuates CCA migration via AMPK-NF-kappaB-snail axis. Erratum:[Biochim Biophys Acta Mol Basis Dis. 2024 Jan;1870(1):166886. doi: 10.1016/j.bbadis.2023.166886. PMID: 37743108], [RefSeq, PubMed]; Identification of acetyl-CoA carboxylase alpha as a prognostic and targeted candidate for hepatocellular carcinoma., [RefSeq, PubMed]; Malonylation of Acetyl-CoA carboxylase 1 promotes hepatic steatosis and is attenuated by ketogenic diet in NAFLD., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 40, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RP68;B2ZZ90;Q6KEV6;Q6XDA8;Q7Z2G8;Q7Z561;Q7Z563;Q7Z564;Q86WB2;Q86WB3", "ec_number_list": "6.4.1.2;6.3.4.-;6.3.4.10;6.3.4.11;6.3.4.15;6.3.4.9", "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0003989 acetyl-CoA carboxylase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0006084 acetyl-CoA metabolic process;GO:0006633 fatty acid biosynthetic process;GO:0046949 fatty-acyl-CoA biosynthetic process;GO:2001295 malonyl-CoA biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 23.7, "record_id": "Q13085-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04049-1", "uniprot_id": "RAF1_HUMAN", "mass": 73052.0, "length": 648, "protein_name": "RAF proto-oncogene serine/threonine-protein kinase", "gene_name": "RAF1", "organism": "Human", "refseq_name": "RAF proto-oncogene serine/threonine-protein kinase isoform b", "refseq_ac": "NP_002871", "gene_names_uniprotkb": "RAF1; RAF", "gene_names_refseq": "CMD1NN; CRAF; NS5; RAF1; Raf-1; c-Raf", "protein_names_uniprotkb": "RAF proto-oncogene serine/threonine-protein kinase; 2.7.11.1; Proto-oncogene c-RAF; Raf-1; cRaf", "protein_names_refseq": "C-Raf proto-oncogene, serine/threonine kinase; Oncogene RAF1; RAF proto-oncogene serine/threonine-protein kinase isoform b; RAF proto-oncogene serine/threonine-protein kinase; proto-oncogene c-RAF; raf proto-oncogene serine/threonine protein kinase; v-raf-1 murine leukemia viral oncogene homolog 1; v-raf-1 murine leukemia viral oncogene-like protein 1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); colorectal adenoma (Disease Ontology:DOID:0050860); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); Noonan syndrome 5 (Disease Ontology:DOID:0060583); Noonan syndrome with multiple lentigines 2 (Disease Ontology:DOID:0080549); dilated cardiomyopathy 1NN (Disease Ontology:DOID:0110432); prostate cancer (Disease Ontology:DOID:10283); cancer (Disease Ontology:DOID:162); prostate adenocarcinoma (Disease Ontology:DOID:2526); high grade glioma (Disease Ontology:DOID:3070); Noonan syndrome (Disease Ontology:DOID:3490); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); pancreatic carcinoma (Disease Ontology:DOID:4905)", "pathway": " (hsa:5894); (R-HSA-2672351); (R-HSA-392517); (R-HSA-430116); (R-HSA-5621575); (R-HSA-5673000); (R-HSA-5674135); (R-HSA-5674499); (R-HSA-5675221); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9726840); (R-HSA-9726842); (R-HSA-9732724)", "pathway_count": 18, "publication_count": 572, "publication_id_list": "10.1101/2023.09.13.557529;10205168;10206983;10209122;10409742;10415025;10490027;10564087;10567369;10576741;10576742;10627461;10642508;10702794;10712905;10720933;10721994;10725339;10757792;10767424;10801448;10801873;10830164;10831588;10862777;10887121;10891492;10998357;11017109;11027949;11032810;11041243;11134016;11182090;11237011;11259591;11274179;11325826;11341776;11376654;11427728;11447113;11494123;11588175;11687798;11700320;11719507;11733498;11734858;11741534;11756411;11782426;11784866;11802164;11802165;11842292;11904445;11956057;11971957;11997508;12068308;12083801;12087097;12181740;12225966;12244094;12393854;12446733;12456660;12473660;12479806;12515809;12551923;12551925;12583813;12628924;12691603;12717443;12801936;12832465;12907679;12932319;12932339;1379744;14530258;14584882;14634667;14636584;14654779;14688280;14724641;14755538;14970219;14992682;15010458;15035987;15044642;15047712;15118098;15147738;15239952;15258589;15260967;15280158;15318163;15385642;15467451;15470067;15504734;15505377;15520807;15534860;15543157;15547943;15601627;15618521;15630448;15632203;15642359;15664191;15705600;15710605;15711535;15772344;15849194;15851477;15899852;15916532;15919655;15935327;15943972;16041367;16093354;16102041;16129686;16135787;16135789;16219661;16239230;16294014;16364920;16405965;16407412;16434485;16508002;16537381;16630891;16702958;16760675;16803888;16813530;16849430;16850186;16854453;16879721;16892053;16924233;17018604;17031853;17055484;17064357;17081983;17097642;17145850;17178906;17218791;17277048;17344846;17381423;17428866;17448995;17462920;17492661;17496912;17525332;17563371;17603482;17603483;17699613;17724343;17785857;17881003;18000046;18039662;18055485;18063579;18064632;18220336;18287029;18294816;18310267;18332145;18374541;18385332;18400985;18449189;1846040;18465753;18508966;18515281;18547165;18559533;18562239;18662336;18662992;18669648;18691976;18724360;18767875;18775988;18821707;1886707;18974108;19007248;19049963;19091303;19091743;19122653;19133285;19153159;19158341;19197368;19219045;19242111;19279408;19288477;19298812;19307298;19380724;19387438;1939645;19467855;19541618;19595761;19620632;19651622;19684605;19690332;19710016;19717011;19727074;19766101;19808995;19933846;19953639;20015475;20052757;20068231;2010539;20130576;20141835;20149136;20161842;20166139;20179705;20212043;20230923;20332238;20363321;20388639;20466723;20509944;20525693;20526349;20538786;20674547;20683980;20685651;20688159;20818844;20820846;20858867;20868520;20934465;20956560;21040849;21107323;21424530;21441104;21441910;21514245;21527911;21596018;21639808;21734462;21779496;21784453;21917714;21984732;21993244;22002868;22043453;22096607;22113612;22158035;22177953;22182854;22292133;22356324;22395615;22487193;22510884;22538822;22569528;22589270;22592532;22730326;22745804;22773952;22826437;22880011;22886302;22922483;22946059;2298749;23105109;23112050;23171796;23186163;2321095;23288408;23327923;23352452;23360980;23453624;23487407;23509299;23529931;23554907;23583981;23614898;23616951;23653349;23667175;23680146;23863182;23875798;23905676;23906342;23934108;23987506;23993095;24023871;24121058;24121489;24135138;24202393;24211266;24330068;24345920;24347342;24568222;24625973;24651010;24715725;24732797;24746704;24777450;24853429;24922062;24929361;24937142;24957944;25137548;25195011;25204017;25204415;25313996;25314968;2536303;25418920;25435214;25576301;25597358;25907612;25965804;26058013;26100670;26154409;26154972;26214590;26242183;26295714;26333361;26343583;26359375;26442853;26562072;26565813;26659599;26992070;27003818;27227380;27264673;27331409;27466182;27527217;27534532;27846572;27862975;27920218;27999210;28063628;28071645;28082416;28154142;28218747;28228285;28289718;28649982;28666118;28694330;28790369;28832583;28834231;28904123;28939558;28947956;28984291;29097117;29127155;29242379;29271604;29393594;29437277;29461827;29467321;29493099;29515772;29545175;29557506;29632046;29632711;29662630;29917268;2993863;2994296;30034615;3003687;30315122;30348783;30368668;30410026;30429286;30586319;30794926;30909892;30971268;31024343;31059601;31091164;31108500;31213532;31217245;31285551;31521821;31541179;3155520;31638257;31844290;31883527;32157095;32265295;32350084;32357974;32387766;32502341;3287375;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33717175;33909326;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34561969;35044719;35051231;35318648;35561310;35580925;35768504;35830882;35831509;36010968;36241641;36284347;36581221;38136612;38629245;38665916;3872140;40136647;7477354;7517401;7542586;7565670;7565795;7588753;7665160;7692235;7694366;7731720;7744815;7766599;7791872;7795595;7929275;7935389;7935411;7935795;8013650;8034572;8041726;8051079;8112288;8157000;8253074;8288587;8321321;8349614;8383669;8521512;8521513;8521514;8533761;8544406;8607981;8626462;8631758;8637718;8710867;8756332;8809036;8876196;8946910;9001246;9020159;9037075;9091312;9115221;9234708;9272646;9346962;9360956;9395096;9425086;9446616;9571199;9660950;9662395;9689060;9700209;9710607;9719863;9733512;9744806;9789079;9794231;9823899;9858547", "class_list": "", "function": "PHI-1, an Endogenous Inhibitor Protein for Protein Phosphatase-1 and a Pan-Cancer Marker, Regulates Raf-1 Proteostasis. Publication Status: Online-Only, [RefSeq, PubMed]; RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors., [RefSeq, PubMed]; Serine/threonine-protein kinase that acts as a regulatory link between the membrane-associated Ras GTPases and the MAPK/ERK cascade, and this critical regulatory link functions as a switch determining cell fate decisions including proliferation, differentiation, apoptosis, survival and oncogenic transformation. RAF1 activation initiates a mitogen-activated protein kinase (MAPK) cascade that comprises a sequential phosphorylation of the dual-specific MAPK kinases (MAP2K1/MEK1 and MAP2K2/MEK2) and the extracellular signal-regulated kinases (MAPK3/ERK1 and MAPK1/ERK2). The phosphorylated form of RAF1 (on residues Ser-338 and Ser-339, by PAK1) phosphorylates BAD/Bcl2-antagonist of cell death at 'Ser-75'. Phosphorylates adenylyl cyclases: ADCY2, ADCY5 and ADCY6, resulting in their activation. Phosphorylates PPP1R12A resulting in inhibition of the phosphatase activity. Phosphorylates TNNT2/cardiac muscle troponin T. Can promote NF-kB activation and inhibit signal transducers involved in motility (ROCK2), apoptosis (MAP3K5/ASK1 and STK3/MST2), proliferation and angiogenesis (RB1). Can protect cells from apoptosis also by translocating to the mitochondria where it binds BCL2 and displaces BAD/Bcl2-antagonist of cell death. Regulates Rho signaling and migration, and is required for normal wound healing. Plays a role in the oncogenic transformation of epithelial cells via repression of the TJ protein, occludin (OCLN) by inducing the up-regulation of a transcriptional repressor SNAI2/SLUG, which induces down-regulation of OCLN. Restricts caspase activation in response to selected stimuli, notably Fas stimulation, pathogen-mediated macrophage apoptosis, and erythroid differentiation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [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": 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": 74, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 57, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 13, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B0LPH8;B2R5N3;Q15278;Q9UC20", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;3.6.5.2;2.7.11.-;2.7.11.4;2.7.11.10;2.3.2.27;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;3.1.3.16;2.7.10.4;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;3.6.4.-;3.1.3.53;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;2.7.1.107;2.7.1.94;2.7.1.138;3.6.5.-;2.7.7.-;2.7.7.19;1.14.11.65;3.1.31.1;2.7.11.38;2.7.11.34;2.3.2.26;2.3.2.36;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0007528 neuromuscular junction development;GO:0008285 negative regulation of cell population proliferation;GO:0033138 positive regulation of peptidyl-serine phosphorylation", "synthesized_glycan_count": 0, "hit_score": 57.9, "record_id": "P04049-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78362-1", "uniprot_id": "SRPK2_HUMAN", "mass": 77527.0, "length": 688, "protein_name": "SRSF protein kinase 2", "gene_name": "SRPK2", "organism": "Human", "refseq_name": "SRSF protein kinase 2 isoform b precursor", "refseq_ac": "NP_001265202", "gene_names_uniprotkb": "SRPK2", "gene_names_refseq": "SFRSK2; SRPK2", "protein_names_uniprotkb": "SRSF protein kinase 2; 2.7.11.1; SFRS protein kinase 2; SR-protein-specific kinase 2; Serine/arginine-rich protein-specific kinase 2", "protein_names_refseq": "SFRS protein kinase 2; SR protein kinase 2; SR-protein-specific kinase 2; SRSF protein kinase 2 isoform b precursor; serine kinase SRPK2; serine/arginine-rich protein-specific kinase 2; serine/arginine-rich splicing factor kinase 2; serine/threonine-protein kinase SRPK2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6733); (R-HSA-9694631)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "11237011;12134018;15144186;15592455;15848177;16122776;16964243;17081983;17322306;17344846;17697703;18425142;18452278;18559500;18669648;18691976;18767875;19413330;19415658;19592491;19651622;20068231;21056976;21157427;21205200;21406692;23186163;24275569;24366607;24715725;25418920;25576301;25645385;26154972;26598975;26992070;27846572;27862975;27920218;28076779;28218747;28514659;28649982;28832583;28834231;28855257;28904123;29199039;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29786170;29789417;30059200;30315122;30429286;30524438;31844290;32029454;32157095;32357974;32387766;32488085;32637943;32645325;32723359;32817937;32877642;32897882;32938616;32983136;33248025;33392160;33592498;33657401;33912179;33936100;33968037;33981976;33997890;34029587;34171305;35051231;35561310;35580925;36010968;36241641;36284347;37183907;38324561;9472028", "class_list": "", "function": "SRPK2 Mediates HBV Core Protein Phosphorylation and Capsid Assembly via Docking Interaction. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing (PubMed:18559500, PubMed:21056976, PubMed:9472028). Promotes neuronal apoptosis by up-regulating cyclin-D1 (CCND1) expression (PubMed:19592491). This is done by the phosphorylation of SRSF2, leading to the suppression of p53/TP53 phosphorylation thereby relieving the repressive effect of p53/TP53 on cyclin-D1 (CCND1) expression (PubMed:21205200). Phosphorylates ACIN1, and redistributes it from the nuclear speckles to the nucleoplasm, resulting in cyclin A1 but not cyclin A2 up-regulation (PubMed:18559500). Plays an essential role in spliceosomal B complex formation via the phosphorylation of DDX23/PRP28 (PubMed:18425142). Probably by phosphorylating DDX23, leads to the suppression of incorrect R-loops formed during transcription; R-loops are composed of a DNA:RNA hybrid and the associated non-template single-stranded DNA (PubMed:28076779). Can mediate hepatitis B virus (HBV) core protein phosphorylation (PubMed:12134018). Plays a negative role in the regulation of HBV replication through a mechanism not involving the phosphorylation of the core protein but by reducing the packaging efficiency of the pregenomic RNA (pgRNA) without affecting the formation of the viral core particles (PubMed:16122776). Phosphorylates the N-terminus of ERC1 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The pre-mRNA alternative splicing regulated by SRPK2: A new player in alcohol-associated liver disease?, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 18, "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": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8MVX2;O75220;O75221;Q6NUL0;Q6V1X2;Q8IYQ3", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003723 RNA binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0071889 14-3-3 protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0001525 angiogenesis;GO:0006468 protein phosphorylation;GO:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "P78362-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15151-1", "uniprot_id": "MDM4_HUMAN", "mass": 54864.0, "length": 490, "protein_name": "Protein Mdm4", "gene_name": "MDM4", "organism": "Human", "refseq_name": "protein Mdm4 isoform 6", "refseq_ac": "NP_001265447", "gene_names_uniprotkb": "MDM4; MDMX", "gene_names_refseq": "BMFS6; HDMX; MDM4; MDMX; MRP1", "protein_names_uniprotkb": "Protein Mdm4; Double minute 4 protein; Mdm2-like p53-binding protein; Protein Mdmx; p53-binding protein Mdm4", "protein_names_refseq": "MDM4, p53 regulator; MDM4-related protein 1; Mdm4 p53 binding protein homolog; double minute 4, human homolog of; mdm2-like p53-binding protein; p53-binding protein; protein Mdm4 isoform 6; protein Mdmx", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); dilated cardiomyopathy (Disease Ontology:DOID:12930); bone marrow failure syndrome 6 (MONDO:MONDO:0030015)", "pathway": " (hsa:4194); (R-HSA-2559580); (R-HSA-2559585); (R-HSA-5689880); (R-HSA-6804756); (R-HSA-6804757); (R-HSA-6804760); (R-HSA-69541)", "pathway_count": 8, "publication_count": 257, "publication_id_list": "10347217;10358095;10435622;10444327;10500146;10518217;10570149;10604467;10608892;10673500;10673501;10710310;10722742;10772813;10871633;10884347;10980695;10980696;10982817;11234019;11237011;11239457;11359766;11447225;11504915;11511361;11511362;11546806;11551930;11564866;11566882;11740489;11780126;11782450;11840567;11883935;11923872;11983168;12064478;12134156;12189133;12193592;12393879;12421820;12435631;12702766;12761890;12808055;12851404;12914926;12917689;12917691;13130464;14507994;14532106;14661020;14702041;14729966;15053879;15053880;15287722;1535557;15448695;15525938;15563468;15572696;15735705;15788536;15866171;15866172;15906355;15916963;16024788;1614537;16163388;16186825;16211008;16214042;16227609;16266988;16322561;16337592;16402859;16415881;16436515;16474402;16511560;16511572;16826196;16845383;16901786;16943424;16964248;17108107;17108971;17110929;17121812;17170761;17210787;17254968;17255097;17290220;17332741;17344414;17349958;17395714;17443180;17591690;17707234;17765224;17825402;17873522;17875933;17980597;17981138;18172164;18356162;18365017;18467330;18490454;18632802;18636086;18793328;18833288;19011621;19015242;19121998;19135894;19188362;19363159;19398555;19424180;19451217;19451218;19462008;19528227;19756449;19808970;19816404;19838211;19874889;19910467;19965871;20096447;20118233;20228808;20368735;20438709;20501646;20534573;20713061;20870725;20959462;21239494;21317932;21362556;21571647;21596315;21625555;21659512;21730132;21730163;21849505;21962518;21986495;22020331;22029577;22085928;22120712;22128162;22216260;22325352;22336108;22362889;22683641;23000554;23028042;23159851;23186163;23395819;23485397;23486064;23676219;23824326;23825189;24056413;24145406;24190973;24260525;24493797;24714562;24874608;24896179;25197364;25305019;25384516;25578727;26148237;26728094;27777309;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29557506;29632711;31844290;32300648;32897882;32938616;32983136;33912179;34087483;34171305;35051231;35494241;36897777;38281029;38374244;39273363;7535770;7578059;7588608;7588633;7686617;7784084;7816143;7859739;7957050;8001816;8078588;8259215;8319905;8479525;8552081;8622669;8622688;8626550;8741839;8774846;8846784;8887688;8954786;8974401;9030721;9162092;9195981;9226370;9529249;9564042;9628874;9768359;9824166;9925639", "class_list": "", "function": "Contributes to p53/TP53 regulation (PubMed:32300648). Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding their transcriptional activation domains. Inhibits degradation of MDM2. Can reverse MDM2-targeted degradation of TP53 while maintaining suppression of TP53 transactivation and apoptotic functions., [UniProtKB, PubMed, PubMed, PubMed]; HDMX gene was amplified in 17% of soft tissue sarcoma patienets and gene amplification was associated with poor prognosis., [RefSeq, PubMed]; Long-Read MDM4 Sequencing Reveals Aberrant Isoform Landscape in Metastatic Melanomas. Publication Status: Online-Only, [RefSeq, PubMed]; MDM4 was associated with poor prognosis and tumor-immune infiltration of cancers. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-34c-5p inhibited fibroblast proliferation, differentiation and epithelial-mesenchymal transition in benign airway stenosis via MDMX/p53 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 22, "reported_mutagensis": 1, "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": "Q2M2Y2;Q32SL2;Q6GS18;Q8IV83", "ec_number_list": "", "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0008270 zinc ion binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0017053 transcription repressor complex", "go_biological_process": "GO:0003170 heart valve development;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0008285 negative regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 25.8, "record_id": "O15151-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13422-1", "uniprot_id": "IKZF1_HUMAN", "mass": 57528.0, "length": 519, "protein_name": "DNA-binding protein Ikaros", "gene_name": "IKZF1", "organism": "Human", "refseq_name": "DNA-binding protein Ikaros isoform 2", "refseq_ac": "NP_001207694", "gene_names_uniprotkb": "IKZF1; IK1; IKAROS; LYF1; ZNFN1A1", "gene_names_refseq": "CVID13; Hs.54452; IK1; IKAROS; IKZF1; LYF1; LyF-1; PPP1R92; PRO0758; ZNFN1A1", "protein_names_uniprotkb": "DNA-binding protein Ikaros; Ikaros family zinc finger protein 1; Lymphoid transcription factor LyF-1", "protein_names_refseq": "CLL-associated antigen KW-6; DNA-binding protein Ikaros isoform 2; DNA-binding protein Ikaros; ikaros family zinc finger protein 1; lymphoid transcription factor LyF-1; protein phosphatase 1, regulatory subunit 92; zinc finger protein, subfamily 1A, 1 (Ikaros)", "tax_id": 9606, "disease": "B-lymphoblastic leukemia/lymphoma (Disease Ontology:DOID:0080630); common variable immunodeficiency 13 (Disease Ontology:DOID:0081155); lung adenocarcinoma (Disease Ontology:DOID:3910); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:10320); (R-HSA-9940951)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10204490;10753856;10970879;10978333;11237011;11489963;17135265;17646674;17934067;19129520;19141594;19690332;21548011;21750978;22106042;23071339;23186163;24275569;24554700;24715725;25150861;25576301;25593309;26154972;26981933;26992070;27026320;27543614;27633282;27732854;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29042441;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30045876;30134174;30315122;31217245;31746185;31844290;32357974;32387766;32502341;32807499;32897882;32983136;33123756;33141586;33298915;33912179;33936100;34211107;34932366;35051231;35561310;35580925;36008597;36284347;39112517;40914422;41275291;7969165;8543809;8964602;9512513", "class_list": "", "function": "A novel Ikaros isoform 'Ikx' is the predominant Ikaros protein present in normal cord blood and bone marrow cells, but not in leukemia cell lines., [RefSeq, PubMed]; CCL2 mediated IKZF1 expression promotes M2 polarization of glioma-associated macrophages through CD84-SHP2 pathway., [RefSeq, PubMed]; This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014]., [RefSeq]; Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (fikzfterminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis in adult erythroid cells. Confers early temporal competence to retinal progenitor cells (RPCs) (By similarity). Function is isoform-specific and is modulated by dominant-negative inactive isoforms (PubMed:17135265, PubMed:17934067)., [UniProtKB, 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": 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": 35, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 90, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A4D260;B4E0Z1;D3DVM5;O00598;Q53XL2;Q69BM4;Q8WVA3", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0032991 protein-containing complex;GO:0005721 pericentric heterochromatin", "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:0030218 erythrocyte differentiation;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q13422-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43186-1", "uniprot_id": "CRX_HUMAN", "mass": 32261.0, "length": 299, "protein_name": "Cone-rod homeobox protein", "gene_name": "CRX", "organism": "Human", "refseq_name": "cone-rod homeobox protein", "refseq_ac": "NP_000545", "gene_names_uniprotkb": "CRX; CORD2", "gene_names_refseq": "CORD2; CRD; CRX; LCA7; OTX3", "protein_names_uniprotkb": "Cone-rod homeobox protein", "protein_names_refseq": "cone-rod homeobox protein; orthodenticle homeobox 3", "tax_id": 9606, "disease": "Leber congenital amaurosis 7 (Disease Ontology:DOID:0110333); cone-rod dystrophy 2 (Disease Ontology:DOID:0111005); retinitis pigmentosa (Disease Ontology:DOID:10584); brain infarction (Disease Ontology:DOID:3454); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:1406)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10625658;10887186;11139241;11237011;15028672;16959974;17286855;18682808;20513135;21602930;24715725;27535533;30410026;33165094;34192607;34653402;35051231;38792980;9390563;9427255;9792858;9931337", "class_list": "", "function": "Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model., [RefSeq, PubMed]; Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Distantly Metastatic Retinoblastoma to Soft Tissue and Bone: A Challenging Diagnosis Highlighting the Utility of CRX., [RefSeq, PubMed]; Downregulation of CRX, a Group 3-specific oncogenic transcription factor, inhibits TGF-beta/activin signaling in medulloblastoma cells., [RefSeq, PubMed]; The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0QD45", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0043522 leucine zipper domain 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_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "O43186-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96KC8-1", "uniprot_id": "DNJC1_HUMAN", "mass": 63883.0, "length": 554, "protein_name": "DnaJ homolog subfamily C member 1", "gene_name": "DNAJC1", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 1 precursor", "refseq_ac": "NP_071760", "gene_names_uniprotkb": "DNAJC1; HTJ1", "gene_names_refseq": "DNAJC1; DNAJL1; ERdj1; HTJ1; MTJ1", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 1; DnaJ protein homolog MTJ1", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 1; DnaJ-like protein; dnaJ homolog subfamily C member 1 precursor; dnaJ homolog subfamily C member 1; dnaJ protein homolog MTJ1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64215)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "11237011;14668352;16271702;17081983;18452278;18669648;19413330;19651622;19690332;20068231;21406692;23186163;23481700;24275569;24714562;24715725;25418920;25880248;26154972;26480920;26728094;26992070;27846572;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29557506;30315122;30429286;30833945;31154438;31844290;31848261;32157095;32161166;32265295;32350084;32387766;32938616;32983136;33141586;33298915;33592498;33633747;33717175;33912179;33936100;33968037;34561969;35051231;35251023;35580925;36010968;38909166;39302247;39894887", "class_list": "", "function": "DNAJC1 facilitates glioblastoma progression by promoting extracellular matrix reorganization and macrophage infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; ITIH4 and MTJ1 co-immunoprecipitate from total liver protein extracts and SANT domain of HTJ1 protects the ITIH4(588-930) recombinant fragment, [RefSeq, PubMed]; May modulate protein synthesis., [UniProtKB]; 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]; The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha trypsin inhibitor heavy chain 4. [provided by RefSeq, Jul 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B0YIZ8;Q5VX89;Q9H6B8", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0051087 protein-folding chaperone binding;GO:0001671 ATPase activator activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0050708 regulation of protein secretion;GO:0045861 negative regulation of proteolysis", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q96KC8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15976-1", "uniprot_id": "GATA1_HUMAN", "mass": 42751.0, "length": 413, "protein_name": "Erythroid transcription factor", "gene_name": "GATA1", "organism": "Human", "refseq_name": "erythroid transcription factor", "refseq_ac": "NP_002040", "gene_names_uniprotkb": "GATA1; ERYF1; GF1", "gene_names_refseq": "CNSHA9; ERYF1; GATA-1; GATA1; GF-1; GF1; HAEADA; NF-E1; NFE1; XLANP; XLTDA; XLTT", "protein_names_uniprotkb": "Erythroid transcription factor; Eryf1; GATA-1; GATA-binding factor 1; GF-1; NF-E1 DNA-binding protein", "protein_names_refseq": "GATA-binding factor 1; NF-E1 DNA-binding protein; erythroid transcription factor 1; erythroid transcription factor; globin transcription factor 1; nuclear factor, erythroid 1; transcription factor GATA1", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); congenital nonspherocytic hemolytic anemia 9 (Disease Ontology:DOID:0051008); transient myeloproliferative syndrome (Disease Ontology:DOID:0060888); myeloid leukemia associated with Down Syndrome (Disease Ontology:DOID:0080798); X-linked thrombocytopenia with beta-thalassemia (Disease Ontology:DOID:0111767); X-linked dyserythropoietic anemia (Disease Ontology:DOID:0112156); beta thalassemia (Disease Ontology:DOID:12241); lung cancer (Disease Ontology:DOID:1324); major depressive disorder (Disease Ontology:DOID:1470); thrombocytopenia (Disease Ontology:DOID:1588); depressive disorder (Disease Ontology:DOID:1596); colon adenocarcinoma (Disease Ontology:DOID:234); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); myelofibrosis (Disease Ontology:DOID:4971); polycythemia (Disease Ontology:DOID:8432); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:2623); (R-HSA-8936459); (R-HSA-8939236); (R-HSA-983231)", "pathway_count": 4, "publication_count": 96, "publication_id_list": "10617663;10700180;11042108;11062261;11237011;11242053;11418466;11675338;11744692;11751636;11809723;11847229;11895428;11950885;12032298;12134158;12200364;12427746;12483298;12576332;15020713;15247287;15678106;15710388;15967790;16054028;16107690;1630448;16371476;16628190;16783379;17027967;17196961;17420275;17713552;18280240;18316480;18701449;19114653;19293402;19509293;19651622;20101202;20339092;20530532;20627800;20876458;20887958;2104960;21129147;21252065;21571218;21725049;218813;22012064;22235304;22777353;22897851;2300555;23186163;24245781;25043025;25394790;25548167;25726523;26010396;26019275;26154972;26845023;27137657;27862975;28832583;29393594;29557506;30429286;32350084;32897882;32938616;3409321;35030251;35051231;38159323;38350611;38695236;39017848;8206977;8524811;8662638;8816476;9065479;9230307;9326583;9331217;9422515;9859997;9927674", "class_list": "", "function": "A novel GATA1 variant p.G229D causing the defect of procoagulant platelet formation., [RefSeq, PubMed]; An intricate regulatory circuit between FLI1 and GATA1/GATA2/LDB1/ERG dictates erythroid vs. megakaryocytic differentiation., [RefSeq, PubMed]; GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development. Review article, [RefSeq, PubMed]; MiR-1202 acts as anti-oncomiR in myeloid leukaemia by down-modulating GATA-1S expression., [RefSeq, PubMed]; This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional activator or repressor which serves as a general switch factor for erythroid development (PubMed:35030251). It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 11, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 17, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96GB8", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0017053 transcription repressor complex;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0030219 megakaryocyte differentiation;GO:0010724 regulation of definitive erythrocyte differentiation;GO:0030221 basophil differentiation;GO:0030222 eosinophil differentiation;GO:0035854 eosinophil fate commitment", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P15976-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYA8-1", "uniprot_id": "IHO1_HUMAN", "mass": 66343.0, "length": 594, "protein_name": "Interactor of HORMAD1 protein 1", "gene_name": "IHO1", "organism": "Human", "refseq_name": "interactor of HORMAD1 protein 1", "refseq_ac": "NP_001128669", "gene_names_uniprotkb": "IHO1; CCDC36", "gene_names_refseq": "CCDC36; CT74; IHO1; LELA1", "protein_names_uniprotkb": "Interactor of HORMAD1 protein 1; CT74; Cancer/testis antigen 74; Coiled-coil domain-containing protein 36", "protein_names_refseq": "cancer/testis antigen 74; coiled-coil domain containing 36; coiled-coil domain-containing protein 36; interactor of HORMAD1 protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:339834)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "19413330;27723721;28904123;29351928;30379171;31704776;32938616;33392160;34019948;35051231;35494241", "class_list": "", "function": "Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with MEI4 and REC114, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis. Not required for HORMAD1 functions in pairing-independent synaptonemal complex formation, ATR recruitment to unsynapsed axes, meiotic silencing of unsynapsed chromatin (MSUC) or meiotic surveillance., [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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "C9JJL0;Q05DG9;Q96LP7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000794 condensed nuclear chromosome", "go_biological_process": "GO:0060629 regulation of homologous chromosome segregation;GO:0006310 DNA recombination;GO:0007283 spermatogenesis;GO:0048477 oogenesis;GO:0007129 homologous chromosome pairing at meiosis", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8IYA8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60370-1", "uniprot_id": "KR105_HUMAN", "mass": 27537.0, "length": 271, "protein_name": "Keratin-associated protein 10-5", "gene_name": "KRTAP10-5", "organism": "Human", "refseq_name": "keratin-associated protein 10-5", "refseq_ac": "NP_941967", "gene_names_uniprotkb": "KRTAP10-5; KAP10.5; KAP18-5; KRTAP10.5; KRTAP18-5; KRTAP18.5", "gene_names_refseq": "KAP10.5; KAP18-5; KAP18.5; KRTAP10-5; KRTAP10.5; KRTAP18-5; KRTAP18.1; KRTAP18.5", "protein_names_uniprotkb": "Keratin-associated protein 10-5; High sulfur keratin-associated protein 10.5; Keratin-associated protein 10.5; Keratin-associated protein 18-5; Keratin-associated protein 18.5", "protein_names_refseq": "high sulfur keratin-associated protein 10.5; keratin-associated protein 10-5; keratin-associated protein 18.5", "tax_id": 9606, "disease": "", "pathway": " (hsa:386680); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "14962103;15028290;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]; This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q0VAR7;Q0VAR8;Q70LJ3", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "P60370-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60409-1", "uniprot_id": "KR107_HUMAN", "mass": 37372.0, "length": 370, "protein_name": "Keratin-associated protein 10-7", "gene_name": "KRTAP10-7", "organism": "Human", "refseq_name": "keratin-associated protein 10-7", "refseq_ac": "NP_941962", "gene_names_uniprotkb": "KRTAP10-7; KAP10.7; KAP18-7; KRTAP10.7; KRTAP18-7; KRTAP18.7", "gene_names_refseq": "KAP10.7; KAP18.7; KRTAP10-7; KRTAP18-7", "protein_names_uniprotkb": "Keratin-associated protein 10-7; High sulfur keratin-associated protein 10.7; Keratin-associated protein 10.7; Keratin-associated protein 18-7; Keratin-associated protein 18.7", "protein_names_refseq": "high sulfur keratin-associated protein 10.7; keratin associated protein 18-7; keratin-associated protein 10-7", "tax_id": 9606, "disease": "", "pathway": " (hsa:386675); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "14962103;15028290;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;35051231;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q0VDJ8;Q70LJ2", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P60409-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60410-1", "uniprot_id": "KR108_HUMAN", "mass": 26299.0, "length": 259, "protein_name": "Keratin-associated protein 10-8", "gene_name": "KRTAP10-8", "organism": "Human", "refseq_name": "keratin-associated protein 10-8", "refseq_ac": "NP_941968", "gene_names_uniprotkb": "KRTAP10-8; KAP10.8; KAP18-8; KRTAP10.8; KRTAP18-8; KRTAP18.8", "gene_names_refseq": "KAP10.8; KRTAP10-8; KRTAP18-8; KRTAP18.8", "protein_names_uniprotkb": "Keratin-associated protein 10-8; High sulfur keratin-associated protein 10.8; Keratin-associated protein 10.8; Keratin-associated protein 18-8; Keratin-associated protein 18.8", "protein_names_refseq": "high sulfur keratin-associated protein 10.8; keratin associated protein 18-8; keratin-associated protein 10-8; keratin-associated protein 18.8", "tax_id": 9606, "disease": "", "pathway": " (hsa:386681); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "14962103;15028290;15373777;16382671;1691188;1694855;16959974;1714783;17521629;20068231;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A0JNW4", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "P60410-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P14920-1", "uniprot_id": "OXDA_HUMAN", "mass": 39474.0, "length": 347, "protein_name": "D-amino-acid oxidase", "gene_name": "DAO", "organism": "Human", "refseq_name": "D-amino-acid oxidase isoform a", "refseq_ac": "NP_001908", "gene_names_uniprotkb": "DAO; DAMOX", "gene_names_refseq": "DAAO; DAMOX; DAO; OXDA", "protein_names_uniprotkb": "D-amino-acid oxidase; 1.4.3.3; DAAO; DAMOX; DAO", "protein_names_refseq": "D-amino-acid oxidase isoform a", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 1 (Disease Ontology:DOID:0060193); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); schizophrenia (Disease Ontology:DOID:5419); end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:1610); (R-HSA-389661); (R-HSA-9033241)", "pathway_count": 3, "publication_count": 137, "publication_id_list": "10022913;10484776;10524214;10562279;10673331;10777549;10978532;11101887;11237011;11546814;11781871;11931631;12364586;12456682;12559034;12578380;12717447;12865426;12885776;12899834;1356107;13681368;13681370;14170323;15340920;15545321;15802217;15858711;1601857;16616139;16854980;17007944;1703535;17088322;17303072;17669354;17684499;17726030;17880399;18215067;18359941;18455394;18544534;18560437;18712838;19197237;19208625;19352492;19438227;19584060;19632994;20018850;20178365;20368421;20521334;20538972;20567862;20603179;21554508;2158891;21679769;21976670;21980954;21998747;22002062;22057399;22203986;22371489;22516612;22747494;23219954;23391306;23566269;23631755;2363689;23963456;24138986;24235149;24362575;24865970;25001371;25016021;25030849;25538232;25697095;25701391;25747990;25854684;26086376;26138649;26220973;26344566;26858947;27597759;27670111;28521612;28611990;28629864;28765278;28787099;2901986;29274788;29326945;29557506;30265959;30659069;30938755;31799256;32730563;33484270;34041270;3416563;34983973;35051231;35430632;35482677;37289348;37558109;38035964;38134563;39894887;500817;6250440;7719337;7790377;8824437;8858165;8991089;9090381;9090382;9090383;9163533;9539740;9653144;9668159;9820813;9837948", "class_list": "", "function": "Aggregation of E121K mutant D-amino acid oxidase and ubiquitination-mediated autophagy mechanisms leading to amyotrophic lateral sclerosis., [RefSeq, PubMed]; Association of the D-amino acid oxidase gene with methadone dose in heroin dependent patients under methadone maintenance treatment., [RefSeq, PubMed]; Blood D-Amino Acid Oxidase Levels Increased With Cognitive Decline Among People With Mild Cognitive Impairment: A Two-Year Prospective Study., [RefSeq, PubMed]; Catalyzes the oxidative deamination of D-amino acids with broad substrate specificity (PubMed:16616139, PubMed:17088322, PubMed:17303072, PubMed:18544534, PubMed:20368421, PubMed:20567862, PubMed:20603179, PubMed:22203986, PubMed:23219954, PubMed:23391306, PubMed:25030849, PubMed:25701391, PubMed:29274788, PubMed:29326945, PubMed:30938755, PubMed:31799256, PubMed:32730563, PubMed:33484270, PubMed:34041270, PubMed:37558109, PubMed:38035964). Required to catabolize D-amino acids synthesized endogenously, of gastrointestinal bacterial origin or obtained from the diet, and to use these as nutrients (By similarity). Regulates the level of D-amino acid neurotransmitters in the brain, such as D-serine, a co-agonist of N-methyl D-aspartate (NMDA) receptors, and may modulate synaptic transmission (PubMed:17303072). Catalyzes the first step of the racemization of D-DOPA to L-DOPA, for possible use in an alternative dopamine biosynthesis pathway (PubMed:17303072). Also catalyzes the first step of the chiral inversion of N(gamma)-nitro-D-arginine methyl ester (D-NNA) to its L-enantiomer L-NNA that acts as a nitric oxide synthase inhibitor (By similarity). The hydrogen peroxide produced in the reaction provides protection against microbial infection; it contributes to the oxidative killing activity of phagocytic leukocytes and protects against bacterial colonization of the small intestine (By similarity). Enzyme secreted into the lumen of the intestine may not be catalytically active and could instead be proteolytically cleaved into peptides with antimicrobial activity (By similarity). The hydrogen peroxide produced in the reaction may also play a role in promoting cellular senescence in response to DNA damage (PubMed:30659069). Could act as a detoxifying agent which removes D-amino acids accumulated during aging (PubMed:17303072)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Characterization of E121K mutation of D-amino acid oxidase - Insights into mechanisms leading to amyotrophic lateral sclerosis., [RefSeq, PubMed]; This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [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": 7, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7I5;Q16758;Q8N6R2", "ec_number_list": "3.6.1.-;3.6.1.77;3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.42;1.3.3.6;2.3.2.27;1.1.1.42;1.11.1.6;3.4.24.56;1.4.3.3;2.6.1.51;2.6.1.44;2.3.1.176;2.3.1.16;2.3.1.155;2.3.2.36;1.14.13.39;4.1.3.4;2.3.1.137;2.3.1.7;5.3.3.21;2.3.1.65;3.4.21.-;1.5.3.13;3.4.21.53;1.4.3.1;1.1.1.184;1.3.1.38;1.3.1.124;1.1.3.15;1.5.3.1;1.5.3.7;5.1.99.4;4.1.2.63;1.2.3.5;2.5.1.18", "go_molecular_function": "GO:0042802 identical protein binding;GO:0071949 FAD binding;GO:0003884 D-amino-acid oxidase activity;GO:0008718 D-amino-acid dehydrogenase activity;GO:0043799 glycine oxidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005782 peroxisomal matrix;GO:0005829 cytosol;GO:0048786 presynaptic active zone", "go_biological_process": "GO:0070945 neutrophil-mediated killing of gram-negative bacterium;GO:0019478 D-amino acid catabolic process;GO:0036088 D-serine catabolic process;GO:0055130 D-alanine catabolic process;GO:0070178 D-serine metabolic process", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "P14920-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15415-1", "uniprot_id": "RBY1F_HUMAN", "mass": 55728.0, "length": 496, "protein_name": "RNA-binding motif protein, Y chromosome, family 1 member F/J", "gene_name": "RBMY1F; RBMY1J", "organism": "Human", "refseq_name": "RNA-binding motif protein, Y chromosome, family 1 member F/J", "refseq_ac": "NP_001006117", "gene_names_uniprotkb": "RBMY1F; RBMY1J; YRRM2", "gene_names_refseq": "RBMY1J", "protein_names_uniprotkb": "RNA-binding motif protein, Y chromosome, family 1 member F/J; Y chromosome RNA recognition motif 2", "protein_names_refseq": "RNA-binding motif protein, Y chromosome, family 1 member F/J; Y chromosome RNA recognition motif 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:159163); (hsa:378951)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "11237011;30379171;35051231;35526384;8269511", "class_list": "", "function": "RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis., [UniProtKB, PubMed]; 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2R916", "ec_number_list": "", "go_molecular_function": "GO:0003729 mRNA binding;GO:0042802 identical protein binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005681 spliceosomal complex;GO:0005634 nucleus", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q15415-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NP59-1", "uniprot_id": "S40A1_HUMAN", "mass": 62542.0, "length": 571, "protein_name": "Ferroportin", "gene_name": "SLC40A1", "organism": "Human", "refseq_name": "ferroportin", "refseq_ac": "NP_055400", "gene_names_uniprotkb": "SLC40A1; FPN1; FPN; IREG1; MSTP079; SLC11A3", "gene_names_refseq": "FPN1; FPN; HFE4; IREG1; MST079; MSTP079; MTP1; SLC11A3; SLC40A1", "protein_names_uniprotkb": "Ferroportin; Ferroportin-1; Iron-regulated transporter 1; Solute carrier family 40 member 1", "protein_names_refseq": "SLC40 iron transporter; ferroportin; iron regulated gene 1; solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3; solute carrier family 40 (iron-regulated transporter), member 1", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); hemochromatosis type 4 (Disease Ontology:DOID:0111028); iron deficiency anemia (Disease Ontology:DOID:11758); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:30061); (R-HSA-425410); (R-HSA-5619049); (R-HSA-5619060); (R-HSA-5655799); (R-HSA-917937)", "pathway_count": 6, "publication_count": 99, "publication_id_list": "10597293;10625641;10693807;10747949;10882071;11230166;11237011;11323407;11431687;11518736;11734551;12091366;12091367;12123233;12406098;12453412;12504026;12730114;12857562;12865285;12873829;12958161;14576842;14636642;14757427;15001581;15044468;15201052;15338274;15466004;15531878;15537541;15692071;15804357;16143108;16274220;16351644;16377569;16407072;16510471;16813613;16984228;17211682;17486601;17924679;18194661;19021540;19452451;1946430;19762596;19762597;20550936;2154449;22178646;22341971;22341972;22682227;23219802;23615448;24304836;24715725;25319704;27600516;28832583;29237594;29557506;29599243;29792530;30247984;30379171;30429286;30755481;31154438;31848261;32350084;32814342;32983136;33392160;33968037;35051231;35251023;35580925;36010968;36284347;37277838;37585449;37929350;37938771;38705495;38750318;38959016;7708681;7820540;7983023;8041788;8641692;8695634;8789443;9207117", "class_list": "", "function": "Influence of SLC40A1 on Cytokine Interactions and Immune Infiltration in Glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibiting DNA methyltransferase DNMT3B confers protection against ferroptosis in nucleus pulposus and ameliorates intervertebral disc degeneration via upregulating SLC40A1., [RefSeq, PubMed]; Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin disease., [RefSeq, PubMed]; May be involved in iron transport and iron homeostasis., [UniProtKB, UniProtKB, UniProtKB]; PRPF19 promotes the proliferation, migration, and inhibits autophagy in prostate cancer by suppressing SLC40A1., [RefSeq, PubMed]; Role of hepcidin upregulation and proteolytic cleavage of ferroportin 1 in hepatitis C virus-induced iron accumulation. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]., [RefSeq]; Transports Fe(2+) from the inside of a cell to the outside of the cell, playing a key role for maintaining systemic iron homeostasis (PubMed:15692071, PubMed:22178646, PubMed:22682227, PubMed:24304836, PubMed:29237594, PubMed:29599243, PubMed:30247984). Transports iron from intestinal, splenic, hepatic cells, macrophages and erythrocytes into the blood to provide iron to other tissues (By similarity). Controls therefore dietary iron uptake, iron recycling by macrophages and erythrocytes, and release of iron stores in hepatocytes (By similarity). When iron is in excess in serum, circulating HAMP/hepcidin levels increase resulting in a degradation of SLC40A1, thus limiting the iron efflux to plasma (PubMed:22682227, PubMed:29237594, PubMed:32814342)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "reported_glycation": 0, "reported_snv": 19, "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": "Q6FI62;Q7Z4F8;Q8IVB2;Q9NRL0", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0017046 peptide hormone binding;GO:0015093 ferrous iron transmembrane transporter activity;GO:0005381 iron ion transmembrane transporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0034755 iron ion transmembrane transport;GO:1903988 iron ion export across plasma membrane;GO:0006879 intracellular iron ion homeostasis;GO:0060586 multicellular organismal-level iron ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q9NP59-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43597-1", "uniprot_id": "SPY2_HUMAN", "mass": 34688.0, "length": 315, "protein_name": "Protein sprouty homolog 2", "gene_name": "SPRY2", "organism": "Human", "refseq_name": "protein sprouty homolog 2", "refseq_ac": "NP_001305465", "gene_names_uniprotkb": "SPRY2", "gene_names_refseq": "IGAN3; SPRY2; hSPRY2", "protein_names_uniprotkb": "Protein sprouty homolog 2; Spry-2", "protein_names_refseq": "protein sprouty homolog 2", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); intestinal pseudo-obstruction (Disease Ontology:DOID:0080072); IgA glomerulonephritis (Disease Ontology:DOID:2986); achalasia (Disease Ontology:DOID:9164); IgA nephropathy, susceptibility to, 3 (MONDO:MONDO:0014786)", "pathway": " (hsa:10253); (R-HSA-1295596); (R-HSA-182971)", "pathway_count": 3, "publication_count": 70, "publication_id_list": "10514377;10652316;10887178;10953014;11053437;11238463;11279012;11698404;11823423;11894095;12072436;12218189;12234920;12391162;12593795;12593796;12717443;12815057;14505571;14985334;15021893;15031289;15117950;15465819;15475003;15564375;15637081;15701692;15962011;16407834;16479008;16877379;16888801;16893902;17255109;17974561;17993263;18578522;18678649;19054389;19690147;19814798;19864419;20622121;20877636;21288888;21376233;25263444;25418920;25782674;29242379;29408807;29557506;29635363;30160357;32350084;33936100;33968037;34685612;34847450;35251023;35254053;37507768;37700432;37824392;7541030;7542744;7657591;8621719;9458049", "class_list": "", "function": "Antagonist of fibroblast growth factor (FGF) pathways via inhibition of FGF-mediated phosphorylation of ERK1/2 (By similarity). Thereby acts as an antagonist of FGF-induced retinal lens fiber differentiation, may inhibit limb bud outgrowth and may negatively modulate respiratory organogenesis (By similarity). Inhibits TGFB-induced epithelial-to-mesenchymal transition in retinal lens epithelial cells (By similarity). Inhibits CBL/C-CBL-mediated EGFR ubiquitination (PubMed:17974561)., [UniProtKB, PubMed, UniProtKB]; Epigenetic DNA Modifications Upregulate SPRY2 in Human Colorectal Cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of SPRY2 contributes to cancer-associated fibroblasts activation and promotes breast cancer development. Publication Status: Online-Only, [RefSeq, PubMed]; SNHG12 regulates biological behaviors of ox-LDL-induced HA-VSMCs through upregulation of SPRY2 and NUB1., [RefSeq, PubMed]; The Prognostic and Functional Impact of Sprouty 2 Expression in Non-small Cell Lung Cancer., [RefSeq, PubMed]; The ceRNA Mechanism of lncRNA MEG3/miR-21-5p/SPRY2 in Cell Proliferation and Apoptosis in Bladder Cancer., [RefSeq, PubMed]; This gene encodes a protein belonging to the sprouty family. The encoded protein contains a carboxyl-terminal cysteine-rich domain essential for the inhibitory activity on receptor tyrosine kinase signaling proteins and is required for growth factor stimulated translocation of the protein to membrane ruffles. In primary dermal endothelial cells this gene is transiently upregulated in response to fibroblast growth factor two. This protein is indirectly involved in the non-cell autonomous inhibitory effect on fibroblast growth factor two signaling. The protein interacts with Cas-Br-M (murine) ectropic retroviral transforming sequence, and can function as a bimodal regulator of epidermal growth factor receptor/mitogen-activated protein kinase signaling. This protein may play a role in alveoli branching during lung development as shown by a similar mouse protein. [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": 3, "reported_glycation": 0, "reported_snv": 6, "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": "B2R9J9;Q5T6Z7", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0004860 protein kinase inhibitor activity;GO:0043539 protein serine/threonine kinase activator activity;GO:0030291 protein serine/threonine kinase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005874 microtubule;GO:0005886 plasma membrane", "go_biological_process": "GO:0046580 negative regulation of Ras protein signal transduction;GO:0010628 positive regulation of gene expression;GO:0030335 positive regulation of cell migration;GO:0033138 positive regulation of peptidyl-serine phosphorylation;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "O43597-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99469-1", "uniprot_id": "STAC_HUMAN", "mass": 44554.0, "length": 402, "protein_name": "SH3 and cysteine-rich domain-containing protein", "gene_name": "STAC", "organism": "Human", "refseq_name": "SH3 and cysteine-rich domain-containing protein isoform 1", "refseq_ac": "NP_003140", "gene_names_uniprotkb": "STAC; STAC1", "gene_names_refseq": "STAC1; STAC", "protein_names_uniprotkb": "SH3 and cysteine-rich domain-containing protein; Src homology 3 and cysteine-rich domain-containing protein", "protein_names_refseq": "SH3 and cysteine-rich domain-containing protein isoform 1; SH3 and cysteine-rich domain-containing protein; SRC homology 3 and cysteine-rich domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6769)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;28696415;29078335;29557506;32938616;33968037;37217939;38253038;8954993", "class_list": "", "function": "Our findings suggest that a variant upstream of STAC1 is associated with placebo response, which might have implications for treatment optimization, clinical trial design and drug development., [RefSeq, PubMed]; Promotes expression of the ion channel CACNA1H at the cell membrane, and thereby contributes to the regulation of channel activity. Plays a minor and redundant role in promoting the expression of calcium channel CACNA1S at the cell membrane, and thereby contributes to increased channel activity. Slows down the inactivation rate of the calcium channel CACNA1C., [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": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R8S8", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005829 cytosol;GO:0009898 cytoplasmic side of plasma membrane;GO:0030315 T-tubule;GO:0042383 sarcolemma;GO:0005737 cytoplasm", "go_biological_process": "GO:0003009 skeletal muscle contraction;GO:0007165 signal transduction;GO:1903078 positive regulation of protein localization to plasma membrane;GO:2001259 positive regulation of cation channel activity;GO:1901387 positive regulation of voltage-gated calcium channel activity", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q99469-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7KZI7-1", "uniprot_id": "MARK2_HUMAN", "mass": 87911.0, "length": 788, "protein_name": "Serine/threonine-protein kinase MARK2", "gene_name": "MARK2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase MARK2 isoform e", "refseq_ac": "NP_001156768", "gene_names_uniprotkb": "MARK2; EMK1", "gene_names_refseq": "EMK-1; EMK1; MARK2; MRD76; PAR-1; Par-1b; Par1b", "protein_names_uniprotkb": "Serine/threonine-protein kinase MARK2; 2.7.11.1; 2.7.11.26; ELKL motif kinase 1; EMK-1; MAP/microtubule affinity-regulating kinase 2; PAR1 homolog b; PAR1 homolog; Par-1b; Par1b", "protein_names_refseq": "ELKL motif kinase 1; MAP/microtubule affinity-regulating kinase 2; PAR1 homolog b; Ser/Thr protein kinase PAR-1B; serine/threonine protein kinase EMK; serine/threonine-protein kinase MARK2 isoform e; serine/threonine-protein kinase MARK2; testicular tissue protein Li 117", "tax_id": 9606, "disease": "anterior segment dysgenesis (Disease Ontology:DOID:0060648); visual impairment and progressive phthisis bulbi (Disease Ontology:DOID:0070356); anterior segment dysgenesis 1 (Disease Ontology:DOID:0080606); cataract 11 multiple types (Disease Ontology:DOID:0110249); cataract 9 multiple types (Disease Ontology:DOID:0110266); neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330); cataract (Disease Ontology:DOID:83); intellectual developmental disorder, autosomal dominant 76 (MONDO:MONDO:0979575)", "pathway": " (hsa:2011)", "pathway_count": 1, "publication_count": 110, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11433294;12429843;14517247;14976552;15084291;15158914;15324659;15365179;16257959;16396636;16775013;16959763;16964243;16980613;17081983;17322306;17442826;17507984;17573348;18088087;18212344;18220336;18424437;18626018;18669648;18691976;18767875;19011111;19369195;19413330;19559622;19651622;19664994;19664995;19691289;19966800;20058876;20068231;20071654;20166139;20194617;21406692;22238634;23186163;23481700;23666762;23902687;24190977;25576301;25880248;26154972;26375851;26992070;27465397;27600516;27843979;27862975;27920218;28228285;28411811;28711359;28832583;28834231;28904123;29242379;29393594;29485866;29493099;29557506;29632711;29786170;29789417;30315122;30429286;30779550;31092671;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32502341;32938616;32983136;33298915;33592498;33717175;33912179;33936100;33981976;34087483;34171305;34185709;34561969;35051231;35469920;35580925;36010968;36284347;38709923;39284914;39302247;39419027;40542891;8274451;9730619", "class_list": "", "function": "Identification of a reciprocal negative feedback loop between tau-modifying proteins MARK2 kinase and CBP acetyltransferase., [RefSeq, PubMed]; MARK2 phosphorylates KIF13A at a 14-3-3 binding site to polarize vesicular transport of transferrin receptor within dendrites., [RefSeq, PubMed]; Serine/threonine-protein kinase (PubMed:23666762). Involved in cell polarity and microtubule dynamics regulation. Phosphorylates CRTC2/TORC2, DCX, HDAC7, KIF13B, MAP2, MAP4 and RAB11FIP2. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Plays a key role in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Regulates epithelial cell polarity by phosphorylating RAB11FIP2. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Regulates axogenesis by phosphorylating KIF13B, promoting interaction between KIF13B and 14-3-3 and inhibiting microtubule-dependent accumulation of KIF13B. Also required for neurite outgrowth and establishment of neuronal polarity. Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus. Also acts as a positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of disheveled proteins (DVL1, DVL2 and/or DVL3). Modulates the developmental decision to build a columnar versus a hepatic epithelial cell apparently by promoting a switch from a direct to a transcytotic mode of apical protein delivery. Essential for the asymmetric development of membrane domains of polarized epithelial cells. Phosphorylates UBAC2 at 'Ser-223' during ER stress or starvation-induced autophagy, promoting UBAC2 dimerization and interaction with GABARAP to mediate ER-phagy (PubMed:39284914)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 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": 49, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 9, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q15449;Q15524;Q5XGA3;Q68A18;Q96HB3;Q96RG0", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003723 RNA binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0030295 protein kinase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005884 actin filament;GO:0005886 plasma membrane", "go_biological_process": "GO:0050770 regulation of axonogenesis;GO:0006468 protein phosphorylation;GO:0010976 positive regulation of neuron projection development;GO:0035556 intracellular signal transduction;GO:0001764 neuron migration", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q7KZI7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43626-1", "uniprot_id": "KI2L1_HUMAN", "mass": 38580.0, "length": 348, "protein_name": "Killer cell immunoglobulin-like receptor 2DL1", "gene_name": "KIR2DL1", "organism": "Human", "refseq_name": "killer cell immunoglobulin-like receptor 2DL1 precursor", "refseq_ac": "NP_055033", "gene_names_uniprotkb": "KIR2DL1; CD158A; NKAT1", "gene_names_refseq": "CD158A; KIR-K64; KIR221; KIR2DL1; NKAT-1; NKAT1; NKAT; p58.1", "protein_names_uniprotkb": "Killer cell immunoglobulin-like receptor 2DL1; CD158 antigen-like family member A; NKAT-1; Natural killer-associated transcript 1; p58 NK receptor CL-42/47.11; p58 natural killer cell receptor clones CL-42/47.11; p58.1 MHC class-I-specific NK receptor", "protein_names_refseq": "CD158 antigen-like family member A; KIR2DL protein; MHC class I NK cell receptor; killer cell immunoglobulin-like receptor 2DL1 precursor; killer cell immunoglobulin-like receptor 2DL1; killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1; killer inhibitory receptor 2-2-1; natural killer-associated transcript 1; p58 NK cell inhibitory receptor NKR-K6; p58 NK receptor CL-42/47.11; p58 killer cell inhibitory receptor KIR-K64; p58 natural killer cell receptor clones CL-42/47.11; p58.1 MHC class-I-specific NK receptor", "tax_id": 9606, "disease": "acquired immunodeficiency syndrome (Disease Ontology:DOID:635)", "pathway": " (hsa:3802); (R-HSA-198933)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "10499918;10746781;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;14607943;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;18604210;18624290;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23394822;23695528;23929856;24305946;24989671;25703557;25716998;26284469;26300885;36713400;37801092;38240527;38262874;39090586;7531291;7542404;7716543;7749980;8178173;8691146;8995416;9285412;9288975;9314561;9430221;9700512;9730896;9751747", "class_list": "", "function": "Activating KIR/HLA-I combinations as a risk factor of adult B-ALL., [RefSeq, PubMed]; KIR2DL1 gene is a surrogate marker of protection against infection-related hospitalization among HIV-1 unexposed versus exposed uninfected infants in Cameroon. Publication Status: Online-Only, [RefSeq, PubMed]; KIR2DS1 and KIR2DL1-C245 Dominantly Repress NK Cell Degranulation Triggered by Monoclonal or Bispecific Antibodies, whereas Education by Uptuning Inhibitory Killer Ig-related Receptors Exerts No Advantage in Ab-dependent Cellular Cytotoxicity., [RefSeq, PubMed]; Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]., [RefSeq]; Receptor on natural killer (NK) cells for some HLA-C alleles such as w4 and w6. Inhibits the activity of NK cells thus preventing cell lysis., [UniProtKB, PubMed]; The KIR2DL1 intermediate upstream element participates in gene activation., [RefSeq, PubMed]; Uterine NK cells underexpress KIR2DL1/S1 and LILRB1 in reproductive failure. 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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O43470;Q32WE6;Q6H2H3;Q6IST4", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0038023 signaling receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0002769 natural killer cell inhibitory signaling pathway;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P43626-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96EB6-1", "uniprot_id": "SIR1_HUMAN", "mass": 81681.0, "length": 747, "protein_name": "NAD-dependent protein deacetylase sirtuin-1", "gene_name": "SIRT1", "organism": "Human", "refseq_name": "NAD-dependent protein deacetylase sirtuin-1 isoform b", "refseq_ac": "NP_001135970", "gene_names_uniprotkb": "SIRT1; SIR2L1", "gene_names_refseq": "SIR2L1; SIR2alpha; SIR2; SIRT1", "protein_names_uniprotkb": "NAD-dependent protein deacetylase sirtuin-1; 2.3.1.-; 2.3.1.286; NAD-dependent protein deacylase sirtuin-1; Regulatory protein SIR2 homolog 1; SIR2-like protein 1; hSIR2; hSIRT1", "protein_names_refseq": "NAD-dependent protein deacetylase sirtuin-1 isoform b; NAD-dependent protein deacetylase sirtuin-1; NAD-dependent protein deacylase sirtuin-1; SIR2-like protein 1; regulatory protein SIR2 homolog 1; sirtuin type 1", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); osteoporosis (Disease Ontology:DOID:11476); nephrogenic diabetes insipidus (Disease Ontology:DOID:12387); Huntington's disease (Disease Ontology:DOID:12858); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826); impotence (Disease Ontology:DOID:1875); atherosclerosis (Disease Ontology:DOID:1936); acute kidney failure (Disease Ontology:DOID:3021); middle cerebral artery infarction (Disease Ontology:DOID:3525); macular degeneration (Disease Ontology:DOID:4448); myocardial infarction (Disease Ontology:DOID:5844); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); senile cataract (Disease Ontology:DOID:9669); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:23411); (R-HSA-3371453); (R-HSA-427359); (R-HSA-9617629); (R-HSA-9707616); (R-HSA-9764725); (R-HSA-9841922); (R-HSA-9854907); (R-HSA-9856649); (R-HSA-9931509)", "pathway_count": 10, "publication_count": 330, "publication_id_list": "10198158;10381378;10381560;10425206;10558993;10567402;10611221;10655586;10655587;10673502;10835357;10882139;10954706;11027271;11027551;11237011;11387216;11672522;11672523;11747420;11840323;11891324;11912130;11930005;12006491;12130498;12297502;12356737;12377782;12511571;12535671;12700765;12829629;12853476;12917326;12939617;12974469;1310260;14975237;14976264;14980222;15118077;15126506;15152190;15175654;15205477;15220471;15226305;15302935;15364926;15469825;15507434;15542832;15632193;15665827;15684044;15692560;15719057;15761026;15802566;1586970;16014379;16034366;16079181;16166628;16278218;16380219;16822840;16892051;16964243;1698554;16998810;17081983;17130829;17283066;17290224;17334224;1748288;17505061;1754405;17612497;17620057;17623675;17680780;17761950;17924679;17936707;17964266;18004385;18006707;18037887;18203716;18235501;18235502;18296641;18329615;18485871;18550409;18644867;18662546;18669648;18687677;18767875;18838864;19007248;19043829;19107194;19172745;19188449;19220062;19229036;19236849;19262508;19356714;19364925;19413330;19524539;19608861;19651622;19664995;19690166;19690332;19710360;19914676;19934257;20027304;20042607;20068231;20097625;20100829;20167603;20169165;20203304;20375098;20418909;20460180;20581824;20620956;20670893;20817722;20817729;20871592;20955178;20975832;21149730;21212262;21245319;21305533;21406692;21471201;21479263;21486943;21504832;21555002;21628546;21698133;21701047;21775285;21807113;21841822;21890893;21909281;21933665;21947282;21965087;21987377;22158034;22223895;22274616;22465953;22510409;22541429;22542455;22647378;22728651;22735644;22918831;22940245;23142079;23159739;23186163;23190890;23207919;23301498;23349863;23352644;23466526;23665396;23754392;23897426;23968571;24043310;24196956;24275569;24415752;24715725;24742694;24824780;24959379;25248477;25361978;25386949;2539258;25406032;25576301;25595898;25661920;25728771;26113041;26212009;26758079;26992070;27128622;27345396;27542238;27754849;27846572;27991597;28111073;28218747;28228285;28394346;28497810;28510447;28549174;28832583;29133780;29242379;29295999;29351928;29393594;29437277;29508533;29557506;29632711;29656858;29681526;29688431;29729076;29765047;29786170;30193097;30205735;30315122;30409912;30524438;30779550;30804224;30833945;30898548;30988280;31100089;31154438;31451225;31722219;31748741;31844290;31848261;32034146;32152092;32157095;32161166;32354867;32488085;32502341;32538779;32636443;32660255;32695117;32910941;32938616;32983136;33298915;33329381;3345742;33608512;33691108;33744299;33912179;33968037;33981976;34140478;34171305;34405274;34561969;34932366;35008676;35032339;35051231;35138000;35292107;35318648;35397207;35580925;35851744;36010968;36241641;37770430;37806254;38512451;39148391;39198693;39285243;39305980;5338216;7585962;7958932;8336698;8415693;8521497;8521498;8622974;8721986;8887638;8946918;9065481;9079689;9144434;9171241;9199364;9305631;9353119;9440696;9560246;9676189;9744270;9760192;9873016;9920933;9973413", "class_list": "", "function": "(Microbial infection) In case of HIV-1 infection, interacts with and deacetylates the viral Tat protein. The viral Tat protein inhibits SIRT1 deacetylation activity toward RELA/NF-kappa-B p65, thereby potentiates its transcriptional activity and SIRT1 is proposed to contribute to T-cell hyperactivation during infection., [UniProtKB, PubMed]; Catalytically inactive 75SirT1 may be involved in regulation of apoptosis. May be involved in protecting chondrocytes from apoptotic death by associating with cytochrome C and interfering with apoptosome assembly., [UniProtKB, PubMed]; Deacetylates 'Lys-382' of p53/TP53, however with lower activity than isoform 1. In combination, the two isoforms exert an additive effect. Isoform 2 regulates p53/TP53 expression and cellular stress response and is in turn repressed by p53/TP53 presenting a SIRT1 isoform-dependent auto-regulatory loop., [UniProtKB, PubMed]; Dynamics and necessity of SIRT1 for maternal-zygotic transition. Publication Status: Online-Only, [RefSeq, PubMed]; Hydrogen sulfide upregulates SIRT1 to inhibit ox-HDL-induced endothelial cell damage and mitochondrial dysfunction., [RefSeq, PubMed]; NAD-dependent protein deacetylase that links transcriptional regulation directly to intracellular energetics and participates in the coordination of several separated cellular functions such as cell cycle, response to DNA damage, metabolism, apoptosis and autophagy (PubMed:11672523, PubMed:12006491, PubMed:14976264, PubMed:14980222, PubMed:15126506, PubMed:15152190, PubMed:15205477, PubMed:15469825, PubMed:15692560, PubMed:16079181, PubMed:16166628, PubMed:16892051, PubMed:16998810, PubMed:17283066, PubMed:17290224, PubMed:17334224, PubMed:17505061, PubMed:17612497, PubMed:17620057, PubMed:17936707, PubMed:18203716, PubMed:18296641, PubMed:18662546, PubMed:18687677, PubMed:19188449, PubMed:19220062, PubMed:19364925, PubMed:19690166, PubMed:19934257, PubMed:20097625, PubMed:20100829, PubMed:20203304, PubMed:20375098, PubMed:20620956, PubMed:20670893, PubMed:20817729, PubMed:20955178, PubMed:21149730, PubMed:21245319, PubMed:21471201, PubMed:21504832, PubMed:21555002, PubMed:21698133, PubMed:21701047, PubMed:21775285, PubMed:21807113, PubMed:21841822, PubMed:21890893, PubMed:21947282, PubMed:22274616, PubMed:22918831, PubMed:24415752, PubMed:24824780, PubMed:29681526, PubMed:29765047, PubMed:30409912). Can modulate chromatin function through deacetylation of histones and can promote alterations in the methylation of histones and DNA, leading to transcriptional repression (PubMed:15469825). Deacetylates a broad range of transcription factors and coregulators, thereby regulating target gene expression positively and negatively (PubMed:14976264, PubMed:14980222, PubMed:15152190). Serves as a sensor of the cytosolic ratio of NAD(+)/NADH which is altered by glucose deprivation and metabolic changes associated with caloric restriction (PubMed:15205477). Is essential in skeletal muscle cell differentiation and in response to low nutrients mediates the inhibitory effect on skeletal myoblast differentiation which also involves 5'-AMP-activated protein kinase (AMPK) and nicotinamide phosphoribosyltransferase (NAMPT) (By similarity). Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes (PubMed:18485871). The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus (PubMed:18485871, PubMed:21504832). Deacetylates 'Lys-266' of SUV39H1, leading to its activation (PubMed:21504832). Inhibits skeletal muscle differentiation by deacetylating PCAF and MYOD1 (PubMed:19188449). Deacetylates H2A and 'Lys-26' of H1-4 (PubMed:15469825). Deacetylates 'Lys-16' of histone H4 (in vitro). Involved in NR0B2/SHP corepression function through chromatin remodeling: Recruited to LRH1 target gene promoters by NR0B2/SHP thereby stimulating histone H3 and H4 deacetylation leading to transcriptional repression (PubMed:20375098). Proposed to contribute to genomic integrity via positive regulation of telomere length; however, reports on localization to pericentromeric heterochromatin are conflicting (By similarity). Proposed to play a role in constitutive heterochromatin (CH) formation and/or maintenance through regulation of the available pool of nuclear SUV39H1 (PubMed:15469825, PubMed:18004385). Upon oxidative/metabolic stress decreases SUV39H1 degradation by inhibiting SUV39H1 polyubiquitination by MDM2 (PubMed:18004385, PubMed:21504832). This increase in SUV39H1 levels enhances SUV39H1 turnover in CH, which in turn seems to accelerate renewal of the heterochromatin which correlates with greater genomic integrity during stress response (PubMed:18004385, PubMed:21504832). Deacetylates 'Lys-382' of p53/TP53 and impairs its ability to induce transcription-dependent proapoptotic program and modulate cell senescence (PubMed:11672523, PubMed:12006491, PubMed:22542455). Deacetylates TAF1B and thereby represses rDNA transcription by the RNA polymerase I (By similarity). Deacetylates MYC, promotes the association of MYC with MAX and decreases MYC stability leading to compromised transformational capability (PubMed:19364925, PubMed:21807113). Deacetylates FOXO3 in response to oxidative stress thereby increasing its ability to induce cell cycle arrest and resistance to oxidative stress but inhibiting FOXO3-mediated induction of apoptosis transcriptional activity; also leading to FOXO3 ubiquitination and protesomal degradation (PubMed:14976264, PubMed:14980222, PubMed:21841822). Appears to have a similar effect on MLLT7/FOXO4 in regulation of transcriptional activity and apoptosis (PubMed:15126506). Deacetylates DNMT1; thereby impairs DNMT1 methyltransferase-independent transcription repressor activity, modulates DNMT1 cell cycle regulatory function and DNMT1-mediated gene silencing (PubMed:21947282). Deacetylates RELA/NF-kappa-B p65 thereby inhibiting its transactivating potential and augments apoptosis in response to TNF (PubMed:15152190). Deacetylates HIF1A, KAT5/TIP60, RB1 and HIC1 (PubMed:17283066, PubMed:17620057, PubMed:20100829, PubMed:20620956). Deacetylates FOXO1 resulting in its nuclear retention and enhancement of its transcriptional activity leading to increased gluconeogenesis in liver (PubMed:15692560). Inhibits E2F1 transcriptional activity and apoptotic function, possibly by deacetylation (PubMed:16892051). Involved in HES1- and HEY2-mediated transcriptional repression (PubMed:12535671). In cooperation with MYCN seems to be involved in transcriptional repression of DUSP6/MAPK3 leading to MYCN stabilization by phosphorylation at 'Ser-62' (PubMed:21698133). Deacetylates MEF2D (PubMed:16166628). Required for antagonist-mediated transcription suppression of AR-dependent genes which may be linked to local deacetylation of histone H3 (PubMed:17505061). Represses HNF1A-mediated transcription (By similarity). Required for the repression of ESRRG by CREBZF (PubMed:19690166). Deacetylates NR1H3 and NR1H2 and deacetylation of NR1H3 at 'Lys-434' positively regulates transcription of NR1H3:RXR target genes, promotes NR1H3 proteasomal degradation and results in cholesterol efflux; a promoter clearing mechanism after reach round of transcription is proposed (PubMed:17936707). Involved in lipid metabolism: deacetylates LPIN1, thereby inhibiting diacylglycerol synthesis (PubMed:20817729, PubMed:29765047). Implicated in regulation of adipogenesis and fat mobilization in white adipocytes by repression of PPARG which probably involves association with NCOR1 and SMRT/NCOR2 (By similarity). Deacetylates p300/EP300 and PRMT1 (By similarity). Deacetylates ACSS2 leading to its activation, and HMGCS1 deacetylation (PubMed:21701047). Involved in liver and muscle metabolism. Through deacetylation and activation of PPARGC1A is required to activate fatty acid oxidation in skeletal muscle under low-glucose conditions and is involved in glucose homeostasis (PubMed:23142079). Involved in regulation of PPARA and fatty acid beta-oxidation in liver. Involved in positive regulation of insulin secretion in pancreatic beta cells in response to glucose; the function seems to imply transcriptional repression of UCP2. Proposed to deacetylate IRS2 thereby facilitating its insulin-induced tyrosine phosphorylation. Deacetylates SREBF1 isoform SREBP-1C thereby decreasing its stability and transactivation in lipogenic gene expression (PubMed:17290224, PubMed:20817729). Involved in DNA damage response by repressing genes which are involved in DNA repair, such as XPC and TP73, deacetylating XRCC6/Ku70, and facilitating recruitment of additional factors to sites of damaged DNA, such as SIRT1-deacetylated NBN can recruit ATM to initiate DNA repair and SIRT1-deacetylated XPA interacts with RPA2 (PubMed:15205477, PubMed:16998810, PubMed:17334224, PubMed:17612497, PubMed:20670893, PubMed:21149730). Also involved in DNA repair of DNA double-strand breaks by homologous recombination and specifically single-strand annealing independently of XRCC6/Ku70 and NBN (PubMed:15205477, PubMed:17334224, PubMed:20097625). Promotes DNA double-strand breaks by mediating deacetylation of SIRT6 (PubMed:32538779). Transcriptional suppression of XPC probably involves an E2F4:RBL2 suppressor complex and protein kinase B (AKT) signaling. Transcriptional suppression of TP73 probably involves E2F4 and PCAF. Deacetylates WRN thereby regulating its helicase and exonuclease activities and regulates WRN nuclear translocation in response to DNA damage (PubMed:18203716). Deacetylates APEX1 at 'Lys-6' and 'Lys-7' and stimulates cellular AP endonuclease activity by promoting the association of APEX1 to XRCC1 (PubMed:19934257). Catalyzes deacetylation of ERCC4/XPF, thereby impairing interaction with ERCC1 and nucleotide excision repair (NER) (PubMed:32034146). Increases p53/TP53-mediated transcription-independent apoptosis by blocking nuclear translocation of cytoplasmic p53/TP53 and probably redirecting it to mitochondria. Deacetylates XRCC6/Ku70 at 'Lys-539' and 'Lys-542' causing it to sequester BAX away from mitochondria thereby inhibiting stress-induced apoptosis. Is involved in autophagy, presumably by deacetylating ATG5, ATG7 and MAP1LC3B/ATG8 (PubMed:18296641). Deacetylates AKT1 which leads to enhanced binding of AKT1 and PDK1 to PIP3 and promotes their activation (PubMed:21775285). Acts as a regulator of AMPK activity in response to calorie restriction: deacetylates the ATP6V1E1 subunit of the V-ATPase complex following activation by TULP3, leading to (1) V-ATPase complex inhibition on lysosomes and (2) AMPK activation via the AXIN1-STK11/LKB1 axis (By similarity). Proposed to play role in regulation of STK11/LBK1-dependent AMPK signaling pathways implicated in cellular senescence which seems to involve the regulation of the acetylation status of STK11/LBK1. Can deacetylate STK11/LBK1 and thereby increase its activity, cytoplasmic localization and association with STRAD; however, the relevance of such activity in normal cells is unclear (PubMed:18687677, PubMed:20203304). In endothelial cells is shown to inhibit STK11/LBK1 activity and to promote its degradation. Deacetylates SMAD7 at 'Lys-64' and 'Lys-70' thereby promoting its degradation. Deacetylates CIITA and augments its MHC class II transactivation and contributes to its stability (PubMed:21890893). Deacetylates MECOM/EVI1 (PubMed:21555002). Deacetylates PML at 'Lys-487' and this deacetylation promotes PML control of PER2 nuclear localization (PubMed:22274616). During the neurogenic transition, represses selective NOTCH1-target genes through histone deacetylation in a BCL6-dependent manner and leading to neuronal differentiation. Regulates the circadian expression of several core clock genes, including BMAL1, RORC, PER2 and CRY1 and plays a critical role in maintaining a controlled rhythmicity in histone acetylation, thereby contributing to circadian chromatin remodeling (PubMed:18662546). Deacetylates BMAL1 and histones at the circadian gene promoters in order to facilitate repression by inhibitory components of the circadian oscillator (By similarity). Deacetylates PER2, facilitating its ubiquitination and degradation by the proteasome (By similarity). Protects cardiomyocytes against palmitate-induced apoptosis (By similarity). Deacetylates XBP1 isoform 2; deacetylation decreases protein stability of XBP1 isoform 2 and inhibits its transcriptional activity (PubMed:20955178). Deacetylates PCK1 and directs its activity toward phosphoenolpyruvate production promoting gluconeogenesis (PubMed:30193097). Involved in the CCAR2-mediated regulation of PCK1 and NR1D1 (PubMed:24415752). Deacetylates CTNB1 at 'Lys-49' (PubMed:24824780). In POMC (pro-opiomelanocortin) neurons, required for leptin-induced activation of PI3K signaling (By similarity). Deacetylates SOX9; promoting SOX9 nuclear localization and transactivation activity (By similarity). Involved in the regulation of centrosome duplication: deacetylates CENATAC in G1 phase, allowing for SASS6 accumulation on the centrosome and subsequent procentriole assembly (PubMed:31722219). Deacetylates NDC80/HEC1 (PubMed:30409912). In addition to protein deacetylase activity, also acts as a protein-lysine deacylase by mediating protein delactylation, depropionylation and decrotonylation (PubMed:28497810, PubMed:38512451). Mediates depropionylation of Osterix (SP7) (By similarity). Catalyzes decrotonylation of histones; it however does not represent a major histone decrotonylase (PubMed:28497810). Mediates protein delactylation of TEAD1 and YAP1 (PubMed:38512451)., [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, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SIRT1 silencing ameliorates malignancy of non-small cell lung cancer via activating FOXO1. Publication Status: Online-Only, [RefSeq, PubMed]; SIRT1(Sir2alpha) deacetylates p53 and promotes survival, [RefSeq, PubMed]; This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]., [RefSeq]; [Role of reactive oxygen species/silent information regulator 1 in hyperoxia-induced bronchial epithelial cell injury]., [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": 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": 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": 35, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 21, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q2XNF6;Q5JVQ0;Q9GZR9;Q9Y6F0", "ec_number_list": "3.5.1.-;3.5.1.98;2.3.1.48;2.1.1.-;3.6.4.10;3.4.22.-;3.9.1.-;3.6.4.-;2.7.11.1;2.3.1.-;2.3.1.286;2.4.2.-;2.1.1.361", "go_molecular_function": "GO:1990254 keratin filament binding;GO:0046970 histone H4K16 deacetylase activity, NAD-dependent;GO:0003713 transcription coactivator activity;GO:0004857 enzyme inhibitor activity;GO:0008047 enzyme activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0010824 regulation of centrosome duplication;GO:0070857 regulation of bile acid biosynthetic process;GO:0090400 stress-induced premature senescence;GO:0000720 pyrimidine dimer repair by nucleotide-excision repair;GO:1904179 positive regulation of adipose tissue development", "synthesized_glycan_count": 0, "hit_score": 33.4, "record_id": "Q96EB6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y3Q7-1", "uniprot_id": "ADA18_HUMAN", "mass": 82856.0, "length": 739, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 18", "gene_name": "ADAM18", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 18 isoform 2 precursor", "refseq_ac": "NP_001177885", "gene_names_uniprotkb": "ADAM18; PRO1867; TMDC3", "gene_names_refseq": "ADAM18; ADAM27; tMDCIII", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 18; ADAM 18; Transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III; tMDC III", "protein_names_refseq": "a disintegrin and metalloproteinase domain 18; disintegrin and metalloproteinase domain-containing protein 18 isoform 2 precursor; disintegrin and metalloproteinase domain-containing protein 18; transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III", "tax_id": 9606, "disease": "", "pathway": " (hsa:8749)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12200459;12975309;21618342;25645385;25892735;29557506;35051231", "class_list": "", "function": "Sperm surface membrane protein that may be involved in spermatogenesis and fertilization. This is a non catalytic metalloprotease-like protein (By similarity)., [UniProtKB]; This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature sperm surface protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]., [RefSeq]; We have determined the complete nucleotide sequence of human tMDC III cDNA , human tMDC III contains a putative integrin-binding glu-cys-asp (ECD) motif, the relevance of which is discussed in the context of a possible role in oolemma binding., [RefSeq, PubMed]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 64, "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": "B2R9Y0;Q0VAI4;Q6IRW9;Q6UXJ9", "ec_number_list": "", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008237 metallopeptidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007155 cell adhesion;GO:0007283 spermatogenesis;GO:0007339 binding of sperm to zona pellucida;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9Y3Q7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86Z20-1", "uniprot_id": "CC125_HUMAN", "mass": 58629.0, "length": 511, "protein_name": "Coiled-coil domain-containing protein 125", "gene_name": "CCDC125", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 125 isoform 3", "refseq_ac": "NP_001284626", "gene_names_uniprotkb": "CCDC125; KENAE", "gene_names_refseq": "CCDC125; KENAE", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 125; Protein kenae", "protein_names_refseq": "coiled-coil domain-containing protein 125 isoform 3; coiled-coil domain-containing protein 125", "tax_id": 9606, "disease": "", "pathway": " (hsa:202243)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;18669648;19787194;23186163;26992070;28218747;28514659;28904123;29393594;29557506;31492838;31844290;32265295;32387766;33912179;33936100;33968037;34087483;36241641", "class_list": "", "function": "May be involved in the regulation of cell migration., [UniProtKB, PubMed]; These results suggest that the novel gene, Kenae/CCDC125, acts as a regulator of cell motility through RhoA, Rac1 and cdc42., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q86Z19", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0090630 activation of GTPase activity;GO:0035024 negative regulation of Rho protein signal transduction;GO:2000146 negative regulation of cell motility;GO:2000145 regulation of cell motility", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q86Z20-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13685-1", "uniprot_id": "AAMP_HUMAN", "mass": 46751.0, "length": 434, "protein_name": "Angio-associated migratory cell protein", "gene_name": "AAMP", "organism": "Human", "refseq_name": "angio-associated migratory cell protein isoform 2", "refseq_ac": "NP_001078", "gene_names_uniprotkb": "AAMP", "gene_names_refseq": "AAMP", "protein_names_uniprotkb": "Angio-associated migratory cell protein", "protein_names_refseq": "angio-associated migratory cell protein isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:14); (R-HSA-168638); (R-HSA-177929); (R-HSA-194138); (R-HSA-428930)", "pathway_count": 5, "publication_count": 120, "publication_id_list": "10224040;10329261;10329646;10702308;11087742;11237011;11460167;12514169;12527755;12791997;12796777;12917691;14514672;14633987;15327770;15620648;16212421;16418336;1688559;17047224;17303577;17496917;17562858;18079694;1825698;1851174;18577758;18634987;19535145;2022652;20300203;21172430;22869377;23301498;23481700;23912460;24275569;24397554;24714562;24715725;2543678;25576301;25645385;26154972;26350504;26375851;26728094;26811146;26992070;27397612;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30410026;30524438;30779550;30833945;31075398;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33279622;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34509645;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37122729;37938771;40914422;7743515;8639530;8845374;9152406;9430721;9744859", "class_list": "", "function": "A crucial exosome-related gene pair (AAMP and ABAT) is associated with inflammatory cells in intervertebral disc degeneration. Publication Status: Online-Only, [RefSeq, PubMed]; Angio-associated migratory cell protein (AAMP) interacts with cell division cycle 42 (CDC42) and enhances migration and invasion in human non-small cell lung cancer cells., [RefSeq, PubMed]; Angio-associated migratory cell protein interacts with epidermal growth factor receptor and enhances proliferation and drug resistance in human non-small cell lung cancer cells., [RefSeq, PubMed]; Important functional role of AAMP in the migration of smooth muscle cells (SMCs), identifying AAMP as a potential target to limit lesion formation after injury., [RefSeq, PubMed]; Plays a role in angiogenesis and cell migration. In smooth muscle cell migration, may act through the RhoA pathway., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; The gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion. [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": 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": "Q8WUJ9;Q96H92", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0001525 angiogenesis;GO:0030154 cell differentiation;GO:0010595 positive regulation of endothelial cell migration;GO:0014909 smooth muscle cell migration", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "Q13685-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TAI7-1", "uniprot_id": "REBL1_HUMAN", "mass": 20682.0, "length": 183, "protein_name": "GTPase RhebL1", "gene_name": "RHEBL1", "organism": "Human", "refseq_name": "GTPase RhebL1 isoform 2", "refseq_ac": "NP_001290055", "gene_names_uniprotkb": "RHEBL1", "gene_names_refseq": "RHEBL1c; RHEBL1", "protein_names_uniprotkb": "GTPase RhebL1; 3.6.5.-; Ras homolog enriched in brain like-1 c; Ras homolog enriched in brain-like protein 1; Rheb-like protein 1; Rheb2; RhebL1c", "protein_names_refseq": "GTPase RhebL1 isoform 2; GTPase RhebL1; Ras homolog enriched in brain like 1 c; ras homolog enriched in brain like-1 c; ras homolog enriched in brain-like protein 1; rheb-like protein 1; rheb2", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); tuberous sclerosis (Disease Ontology:DOID:13515); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:121268)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;12869548;16006564;16098514;16328882;17162089;21655954;23481700;25422319;25880248;25892735;28209923;28228285;28832583;29769354;30315122;31092671;31844290;32157095;33912179;34375645;35051231", "class_list": "", "function": "Binds GTP and exhibits intrinsic GTPase activity (By similarity). May activate NF-kappa-B-mediated gene transcription (PubMed:16328882). Promotes signal transduction through MTOR, activates RPS6KB1, and is a downstream target of the small GTPase-activating proteins TSC1 and TSC2., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Data show that Rheb like-1 protein (RhebL1) rescues mTOR signaling during nutrient withdrawal, and identify critical residues in Rheb and RhebL1 which are required for their efficient activation of mTOR signaling., [RefSeq, PubMed]; High RHEBL1 expression is associated with lung cancer., [RefSeq, PubMed]; RHEBL1 is a positive regulator of NF-kappa B-mediated gene transcription., [RefSeq, PubMed]; Rheb1 promotes glucose-stimulated insulin secretion in human and mouse beta-cells by upregulating GLUT expression., [RefSeq, PubMed]; RhebL1 may be impacting the mTOR pathway in a different manner than Rheb1., [RefSeq, PubMed]; These results establish CAD as a downstream effector of Rheb and suggest a possible role of Rheb in regulating de novo pyrimidine nucleotide synthesis.(Rheb small GTPases, which consist of Rheb1 and Rheb2 (also known as RhebL1), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q56VH8", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0043539 protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0012505 endomembrane system;GO:0016020 membrane", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0035556 intracellular signal transduction;GO:0007264 small GTPase-mediated signal transduction;GO:0031929 TOR signaling;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8TAI7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5S007-1", "uniprot_id": "LRRK2_HUMAN", "mass": 286103.0, "length": 2527, "protein_name": "Leucine-rich repeat serine/threonine-protein kinase 2", "gene_name": "LRRK2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LRRK2; PARK8", "gene_names_refseq": "", "protein_names_uniprotkb": "Leucine-rich repeat serine/threonine-protein kinase 2; 2.7.11.1; 3.6.5.-; Dardarin", "protein_names_refseq": "", "tax_id": 9606, "disease": "synucleinopathy (Disease Ontology:DOID:0050890); Parkinson's disease 8 (Disease Ontology:DOID:0060371); late onset Parkinson's disease (Disease Ontology:DOID:0060892); Parkinsonism (Disease Ontology:DOID:0080855); neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330); cancer (Disease Ontology:DOID:162); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); rheumatoid arthritis (Disease Ontology:DOID:7148); Crohn's disease (Disease Ontology:DOID:8778); frontotemporal dementia (Disease Ontology:DOID:9255); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:120892); (R-HSA-8857538)", "pathway_count": 2, "publication_count": 184, "publication_id_list": "11237011;15541308;15541309;15680455;15680456;15680457;15726496;15732108;15811454;15852371;15880653;15925109;15929036;16001413;16081470;16087219;16102999;16157901;16157908;16157909;16172858;16240353;16247070;16250030;16251215;16269541;16272164;16272257;16298482;16321986;16333314;16352719;16532471;16533964;17019612;17114044;17120249;17200152;17344846;18213618;18230735;18397888;19733152;19824698;20058876;20108944;20595391;20642453;20659021;20949042;21060682;21248752;21390248;21641266;21712955;21806997;21850687;22004453;22012985;22323743;22415848;22723946;22952686;22952710;22956510;22988882;23241745;23395371;23481700;23765085;23776530;23916833;23924436;23938344;24351927;24357540;24687852;24714562;24836358;24917786;24942733;25009464;25118928;25201882;25401981;25505266;25645385;25830304;25892735;26014385;26154972;26251043;26375851;26384650;26399642;26728094;26751287;26824392;26865512;26930193;26992070;27297049;27830463;27832104;27862975;27911006;28063628;28202711;28228285;28353278;28353283;28453723;28514659;28553204;28720718;28832583;28834231;28860483;28973420;29125462;29127255;29127256;29129681;29166931;29177506;29212815;29242379;29311810;29393594;29508533;29513666;29541021;29557506;29632046;29632711;29743203;29786170;30209220;30368241;30379171;30398148;30429286;30592011;30635421;30645642;30833945;31039583;31154438;31428781;31527116;31663853;31844290;31848261;32157095;32387766;32499675;32502341;32736291;32919031;32938616;32983136;33057100;33177079;33297425;33392160;33717175;33717414;33968037;34125248;34171305;34357683;34405274;34932366;35051231;35251023;35266954;35580925;35675433;35950872;36241641;36284347;37938771;38127736;38227290", "class_list": "", "function": "Serine/threonine-protein kinase which phosphorylates a broad range of proteins involved in multiple processes such as neuronal plasticity, innate immunity, autophagy, and vesicle trafficking (PubMed:17114044, PubMed:20949042, PubMed:21850687, PubMed:22012985, PubMed:23395371, PubMed:24687852, PubMed:25201882, PubMed:26014385, PubMed:26824392, PubMed:27830463, PubMed:28720718, PubMed:29125462, PubMed:29127255, PubMed:29212815, PubMed:30398148, PubMed:30635421). Is a key regulator of RAB GTPases by regulating the GTP/GDP exchange and interaction partners of RABs through phosphorylation (PubMed:26824392, PubMed:28720718, PubMed:29125462, PubMed:29127255, PubMed:29212815, PubMed:30398148, PubMed:30635421). Phosphorylates RAB3A, RAB3B, RAB3C, RAB3D, RAB5A, RAB5B, RAB5C, RAB8A, RAB8B, RAB10, RAB12, RAB29, RAB35, and RAB43 (PubMed:23395371, PubMed:26824392, PubMed:28720718, PubMed:29125462, PubMed:29127255, PubMed:29212815, PubMed:30398148, PubMed:30635421, PubMed:38127736). Regulates the RAB3IP-catalyzed GDP/GTP exchange for RAB8A through the phosphorylation of 'Thr-72' on RAB8A (PubMed:26824392). Inhibits the interaction between RAB8A and GDI1 and/or GDI2 by phosphorylating 'Thr-72' on RAB8A (PubMed:26824392). Regulates primary ciliogenesis through phosphorylation of RAB8A and RAB10, which promotes SHH signaling in the brain (PubMed:29125462, PubMed:30398148). Together with RAB29, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose-6-phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner (PubMed:23395371). Regulates neuronal process morphology in the intact central nervous system (CNS) (PubMed:17114044). Plays a role in synaptic vesicle trafficking (PubMed:24687852). Plays an important role in recruiting SEC16A to endoplasmic reticulum exit sites (ERES) and in regulating ER to Golgi vesicle-mediated transport and ERES organization (PubMed:25201882). Positively regulates autophagy through a calcium-dependent activation of the CaMKK/AMPK signaling pathway (PubMed:22012985). The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes (PubMed:22012985). Phosphorylates PRDX3 (PubMed:21850687). By phosphorylating APP on 'Thr-743', which promotes the production and the nuclear translocation of the APP intracellular domain (AICD), regulates dopaminergic neuron apoptosis (PubMed:28720718). Acts as a positive regulator of innate immunity by mediating phosphorylation of RIPK2 downstream of NOD1 and NOD2, thereby enhancing RIPK2 activation (PubMed:27830463). Independent of its kinase activity, inhibits the proteasomal degradation of MAPT, thus promoting MAPT oligomerization and secretion (PubMed:26014385). In addition, has GTPase activity via its Roc domain which regulates LRRK2 kinase activity (PubMed:18230735, PubMed:26824392, PubMed:28720718, PubMed:29125462, PubMed:29212815). Recruited by RAB29/RAB7L1 to overloaded lysosomes where it phosphorylates and stabilizes RAB8A and RAB10 which promote lysosomal content release and suppress lysosomal enlargement through the EHBP1 and EHBP1L1 effector proteins (PubMed:30209220, PubMed:38227290)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 48, "reported_mutagensis": 35, "reported_glycation": 0, "reported_snv": 96, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NJU2;Q6ZS50;Q8NCX9", "ec_number_list": "3.6.5.-;3.6.5.2;2.7.11.1;3.6.5.3;3.6.5.5;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.6.1.5;3.1.26.-;2.7.11.22;2.7.11.13;2.7.10.1;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;3.6.1.-;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;3.6.5.4;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.-.-;2.7.11.38;2.7.11.34;3.6.1.15;3.6.1.6;3.6.1.42;2.7.1.150", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003779 actin binding;GO:0003924 GTPase activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:1902902 negative regulation of autophagosome assembly;GO:0031344 regulation of cell projection organization;GO:0051900 regulation of mitochondrial depolarization;GO:0090140 regulation of mitochondrial fission;GO:0070585 protein localization to mitochondrion", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "Q5S007-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99418-1", "uniprot_id": "CYH2_HUMAN", "mass": 46546.0, "length": 400, "protein_name": "Cytohesin-2", "gene_name": "CYTH2", "organism": "Human", "refseq_name": "cytohesin-2 isoform 2", "refseq_ac": "NP_004219", "gene_names_uniprotkb": "CYTH2; ARNO; PSCD2L; PSCD2", "gene_names_refseq": "ARNO; CTS18.1; CTS18; CYTH2; PSCD2L; PSCD2; SEC7L; Sec7p-L; Sec7p-like; cytohesin-2", "protein_names_uniprotkb": "Cytohesin-2; ARF exchange factor; ARF nucleotide-binding site opener; PH, SEC7 and coiled-coil domain-containing protein 2; Protein ARNO", "protein_names_refseq": "ARF exchange factor; ARF nucleotide-binding site opener; CTC-273B12.8; PH, SEC7 and coiled-coil domain-containing protein 2; cytohesin-2 isoform 2; pleckstrin homology, Sec7 and coiled-coil domains 2; pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)", "tax_id": 9606, "disease": "", "pathway": " (hsa:9266); (R-HSA-6811438)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10189370;10531036;10652308;10652516;11237011;11718716;11748249;12011112;12383348;12429822;14654833;15504911;15718469;15728195;15758030;17274799;17398095;17623778;18086915;18256213;18451304;19164740;19536132;19715559;20153292;20163571;20874812;21807881;22013193;22188167;23091056;23239882;23378023;23462996;23839779;23936529;23940353;24083777;24119662;24303080;25326380;25505266;25576301;25708460;25880248;26154972;26811146;26992070;27846572;27920218;28218747;28514659;28832583;29242379;29420262;29437277;29493099;29557506;30315122;30429286;30833945;31780432;31844290;31848261;32157095;32161166;32387766;32983136;33968037;34171305;34932366;35051231;35077201;35318648;35561310;35580925;36010968;36284347;37938771;8636227;8945478;9244307;9417041;9476900;9510256;9653114;9707577;9915833", "class_list": "", "function": "Acts as a guanine-nucleotide exchange factor (GEF). Promotes guanine-nucleotide exchange on ARF1, ARF3 and ARF6. Activates ARF factors through replacement of GDP with GTP (By similarity). The cell membrane form, in association with ARL4 proteins, recruits ARF6 to the plasma membrane (PubMed:17398095). Involved in neurite growth (By similarity)., [UniProtKB, UniProtKB, PubMed]; Molecular Architecture of a Network of Potential Intracellular EGFR Modulators: ARNO, CaM, Phospholipids, and the Juxtamembrane Segment., [RefSeq, PubMed]; The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The encoded protein exhibits GEP activity in vitro with ARF1, ARF3, and ARF6 and is 83% homologous to CYTH1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 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": 6, "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": "A8K8P0;Q8IXY9;Q92958", "ec_number_list": "", "go_molecular_function": "GO:0070679 inositol 1,4,5 trisphosphate binding;GO:0008289 lipid binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005912 adherens junction", "go_biological_process": "GO:0006897 endocytosis;GO:0030036 actin cytoskeleton organization;GO:0016192 vesicle-mediated transport;GO:0032012 regulation of ARF protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q99418-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPF8-1", "uniprot_id": "ADAP2_HUMAN", "mass": 44349.0, "length": 381, "protein_name": "Arf-GAP with dual PH domain-containing protein 2", "gene_name": "ADAP2", "organism": "Human", "refseq_name": "arf-GAP with dual PH domain-containing protein 2 isoform 3", "refseq_ac": "NP_001333643", "gene_names_uniprotkb": "ADAP2; CENTA2", "gene_names_refseq": "ADAP2; CENTA2; HSA272195; cent-b", "protein_names_uniprotkb": "Arf-GAP with dual PH domain-containing protein 2; Centaurin-alpha-2; Cnt-a2", "protein_names_refseq": "arf-GAP with dual PH domain-containing protein 2 isoform 3; arf-GAP with dual PH domain-containing protein 2; centaurin beta; centaurin-alpha 2 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55803)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10843809;11237011;12018390;14690521;23285209;26372645;27956705;28904123;29557506;31844290;35051231;35580925;36127253", "class_list": "", "function": "ArfGAP domain-containing protein 2 (ADAP2) is identified as a key novel scaffolding protein that integrates different modules of the RIG-I pathway, located at distinct subcellular locations, and mediates cellular antiviral type I interferon production. Publication Status: Online-Only, [RefSeq, PubMed]; Centaurin-alpha interacts with beta-tubulin and stabilizes microtubules., [RefSeq, PubMed]; Data suggest ADAP2 (an interferon-beta stimulated gene) disrupts pathogenic internalization of some RNA viruses/virions (dengue, vesicular stomatitis) by altering ADP ribosylation factor 6-mediated processes including up-regulation of pinocytosis. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated Expression of ADAP2 is Associated With Aggressive Behavior of Human Clear-Cell Renal Cell Carcinoma and Poor Patient Survival., [RefSeq, PubMed]; GTPase-activating protein for the ADP ribosylation factor family (Potential). Binds phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). Possesses a stoichiometry of two binding sites for InsP4 with identical affinity., [UniProtKB, PubMed]; The human gene for centaurin alpha 2 is located on chromosome 17, position 17q11.2, near the neurofibromatosis 1 (NF1) locus and concentrated at the plasma membrane., [RefSeq, PubMed]; The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [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": 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": "Q8N4Q6;Q96SD5", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0008270 zinc ion binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005740 mitochondrial envelope;GO:0005886 plasma membrane", "go_biological_process": "GO:0007507 heart development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9NPF8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7L9L4-1", "uniprot_id": "MOB1B_HUMAN", "mass": 25091.0, "length": 216, "protein_name": "MOB kinase activator 1B", "gene_name": "MOB1B", "organism": "Human", "refseq_name": "MOB kinase activator 1B isoform 1", "refseq_ac": "NP_001231695", "gene_names_uniprotkb": "MOB1B; MOB4A; MOBKL1A", "gene_names_refseq": "MATS2; MOB1B; MOB4A; MOBKL1A", "protein_names_uniprotkb": "MOB kinase activator 1B; Mob1 homolog 1A; Mob1A; Mob1B; Mps one binder kinase activator-like 1A", "protein_names_refseq": "MOB kinase activator 1B isoform 1; MOB1 Mps One Binder homolog B; MOB1, Mps One Binder kinase activator-like 1A; mob1 homolog 1A; mob1A; mps one binder kinase activator-like 1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:92597); (R-HSA-2028269)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "11118213;11237011;11278283;15067004;15109305;15688006;16930133;17085597;17974916;18158288;18227151;18328708;18767875;19651622;19739119;19878874;19919647;20068231;20166139;20412773;20850437;20868367;21187284;21205866;21224387;21233212;21555462;21808241;21832154;23431053;24714562;24715725;25502872;26154972;26992070;27846572;28218747;28510447;28832583;28904123;29242379;29437277;29493099;29557506;30410026;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;34078123;34087483;34171305;34185709;34357683;34433824;34509645;34561969;34932366;35051231;35318648;35494241;35561310;35580925;36010968;36215666;36241641;36284347;36445107;37938771;8702870;9545236", "class_list": "", "function": "Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Stimulates the kinase activity of STK38L., [UniProtKB, PubMed, PubMed]; MiR-548ag functions as an oncogene by suppressing MOB1B in the development of obesity-related endometrial cancer., [RefSeq, PubMed]; The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Three 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2R8U6;B4DRY3;Q8IY23", "ec_number_list": "", "go_molecular_function": "GO:0019209 kinase activator activity;GO:0046872 metal ion binding;GO:0030295 protein kinase activator activity;GO:0019900 kinase binding;GO:0043539 protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0035329 hippo signaling;GO:0031952 regulation of protein autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q7L9L4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30307-1", "uniprot_id": "MPIP3_HUMAN", "mass": 53365.0, "length": 473, "protein_name": "M-phase inducer phosphatase 3", "gene_name": "CDC25C", "organism": "Human", "refseq_name": "M-phase inducer phosphatase 3 isoform a", "refseq_ac": "NP_001274511", "gene_names_uniprotkb": "CDC25C", "gene_names_refseq": "CDC25C; CDC25; PPP1R60", "protein_names_uniprotkb": "M-phase inducer phosphatase 3; 3.1.3.48; Dual specificity phosphatase Cdc25C", "protein_names_refseq": "CDC25 homolog C; M-phase inducer phosphatase 3 isoform a; M-phase inducer phosphatase 3; dual specificity phosphatase CDC25C; mitosis inducer CDC25; phosphotyrosine phosphatase; protein phosphatase 1, regulatory subunit 60", "tax_id": 9606, "disease": "endometrial hyperplasia (Disease Ontology:DOID:0080365); prostate cancer (Disease Ontology:DOID:10283); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); vulva squamous cell carcinoma (Disease Ontology:DOID:2101); cervical cancer (Disease Ontology:DOID:4362)", "pathway": " (hsa:995); (R-HSA-156711); (R-HSA-176187); (R-HSA-5625740); (R-HSA-6804114); (R-HSA-6804115); (R-HSA-69273); (R-HSA-75035); (R-HSA-8862803)", "pathway_count": 9, "publication_count": 297, "publication_id_list": "10037602;10051570;10097108;10330186;10373362;10391675;10393926;10395539;10435585;10444066;10524633;10557092;10600115;10604467;10619026;10639123;10652300;10681541;10744722;10753910;10777662;10786669;10827953;10830966;10859164;10864927;10924361;11027648;11063929;11078813;11134534;11139144;11202906;11237011;11238451;11304565;11313932;11331307;11333986;11390642;11551930;11574543;11814693;11853546;11896574;11897663;11907280;11942626;12399544;12411508;12569391;12578958;12595692;12676583;12676925;12738781;12742231;12754270;12759351;12766774;12783890;12791985;12835754;12897130;12941695;12963847;1384126;14500360;14514689;14592973;14603323;14605214;14624239;14681223;14968113;14972559;15003508;15024056;15037762;15064744;15070733;15073169;15150265;15184667;15186775;15190204;15226314;15282313;15456846;15572030;15574328;15590058;15629715;15654331;15707391;15708996;15713436;15736430;15743907;15791647;15833913;15940258;15961392;16140933;16160013;16327781;16407120;16481012;16582612;16582626;16772293;16964243;17146433;17172876;1717476;17237275;17301291;17329004;17382881;17409144;17533373;17630511;17634129;17662724;17706963;17719541;17989878;18006505;18159951;18212344;18239451;1828290;18285455;18337750;1836978;18384749;18394995;18480045;18551195;18669648;18691386;18691976;18843201;19160488;19192479;19276069;19401701;19503101;19648910;19723632;20068082;20068231;20143254;20220133;20352051;20360007;20460379;20500813;20530684;20531387;20564478;20637859;20668692;21189416;21321122;21351730;21624128;21749319;21813648;21900495;2195549;22252318;22391450;22842784;22843362;22899714;23109430;23186163;23236473;23240008;23242214;23451128;23485469;23707954;23733185;23967052;24023871;24096481;24128008;24505404;24525428;24643073;24651441;25506060;25544753;25573277;25576301;25732194;25938491;26485758;26683224;26699757;26799419;26992070;27134571;27198502;27390173;27603133;27619510;27893789;27919943;27920218;28228285;28264028;28649982;28832583;28904123;29039919;29071385;29154753;29242379;29393594;29439343;29467227;29557506;29632046;29680228;29734760;29754473;29774099;30315122;30400903;30484775;30779550;31285938;31537708;31844290;32075732;32157095;32161166;32311864;32357974;32387766;32393310;32502341;32897882;32938616;33298915;33402344;33592498;33628174;33691108;33717175;33718142;33771996;33912179;33968037;34087483;34171305;34509645;35051231;35580925;36010968;36241641;37217939;37682709;38713252;38817663;7698360;7737117;7743995;7784094;7799941;7973727;8119945;8196638;8428596;8440392;8662509;8703070;8943031;8944033;9184226;9228946;9268380;9278511;9278512;9354661;9543386;9659898;9670027;9671765;9679058;9712883;9836640;9889122;9988689", "class_list": "", "function": "Cell division cyclin 25C knockdown inhibits hepatocellular carcinoma development by inducing endoplasmic reticulum stress., [RefSeq, PubMed]; Functions as a dosage-dependent inducer in mitotic control. Tyrosine protein phosphatase required for progression of the cell cycle (PubMed:8119945). When phosphorylated, highly effective in activating G2 cells into prophase (PubMed:8119945). Directly dephosphorylates CDK1 and activates its kinase activity (PubMed:8119945)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; KIF22 promotes multiple myeloma progression by regulating the CDC25C/CDK1/cyclinB1 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; PUF60 promotes cell cycle and lung cancer progression by regulating alternative splicing of CDC25C., [RefSeq, PubMed]; This gene encodes a conserved protein that plays a key role in the regulation of cell division. The encoded protein directs dephosphorylation of cyclin B-bound CDC2 and triggers entry into mitosis. It also suppresses p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Dec 2015]., [RefSeq]; Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression., [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": 54, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 3, "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": "D3DQB8;Q96PL3;Q9H168;Q9H2E8;Q9H2E9;Q9H2F1", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;2.7.11.1;2.7.11.22;2.7.11.23;3.1.3.5;3.1.3.2;2.7.10.1;2.7.11.21;3.1.3.67;2.7.11.13;3.1.3.27", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0050699 WW domain binding;GO:0004721 phosphoprotein phosphatase activity;GO:0004725 protein tyrosine phosphatase activity;GO:0120283 protein serine/threonine kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005758 mitochondrial intermembrane space;GO:0005829 cytosol", "go_biological_process": "GO:0008283 cell population proliferation;GO:0010971 positive regulation of G2/M transition of mitotic cell cycle;GO:0051301 cell division;GO:0000086 G2/M transition of mitotic cell cycle;GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity", "synthesized_glycan_count": 0, "hit_score": 30.0, "record_id": "P30307-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54619-1", "uniprot_id": "AAKG1_HUMAN", "mass": 37579.0, "length": 331, "protein_name": "5'-AMP-activated protein kinase subunit gamma-1", "gene_name": "PRKAG1", "organism": "Human", "refseq_name": "5'-AMP-activated protein kinase subunit gamma-1 isoform 3", "refseq_ac": "NP_001193638", "gene_names_uniprotkb": "PRKAG1", "gene_names_refseq": "AMPKG; PRKAG1", "protein_names_uniprotkb": "5'-AMP-activated protein kinase subunit gamma-1; AMPK gamma1; AMPK subunit gamma-1; AMPKg", "protein_names_refseq": "5'-AMP-activated protein kinase subunit gamma-1 isoform 3; 5'-AMP-activated protein kinase, gamma-1 subunit; AMPK gamma-1 chain; AMPK gamma1; protein kinase, AMP-activated, gamma 1 non-catalytic subunit", "tax_id": 9606, "disease": "lethal congenital glycogen storage disease of heart (Disease Ontology:DOID:0090101); neurodegenerative disease (Disease Ontology:DOID:1289); Wolff-Parkinson-White syndrome (Disease Ontology:DOID:384)", "pathway": " (hsa:5571); (R-HSA-1445148); (R-HSA-1632852); (R-HSA-2151209); (R-HSA-380972); (R-HSA-5628897); (R-HSA-6804756); (R-HSA-9613354); (R-HSA-9619483); (R-HSA-9931269)", "pathway_count": 10, "publication_count": 244, "publication_id_list": "10329961;10435622;10500146;10570149;10601328;10604467;10673500;10673501;10710310;10716435;10745013;10884347;10980602;11018120;11029283;11034341;11096062;11237011;11239457;11340051;11447225;11481440;11486029;11511362;11545734;11546806;11551930;11740489;11780126;11825910;11959846;12064478;12161445;12203114;12393879;12438239;12453409;12702766;12714747;12805220;12851404;12869586;12906785;12914926;13298683;13538944;14511394;14517248;14614828;14651849;14702041;14722619;14985505;15053879;15105503;15187094;15223;15579580;15589136;15591024;15866171;15919790;15971998;16140933;16322561;16413492;16636147;16728594;16760263;16839880;16880201;16943194;16963840;17028174;17099248;17108107;17255938;17298220;17307971;17349958;17369524;17452784;17486094;17540029;17591690;17618624;17712357;17995453;18198340;18321988;18344994;18403135;18439900;18490454;18691976;18692468;19013499;19112161;19113821;19121998;19211835;19252894;19322194;19439913;19487573;19590496;19822145;19855179;19898463;19965871;20059746;20080666;20182617;20351271;20378837;20631154;20701589;20713597;20837646;20921139;20937701;20959462;21177865;21205641;21258367;21317932;21383122;21451146;21454505;21454690;21460621;21460634;21680840;21750704;21819378;21907143;21958598;22170151;22363791;22682742;23000554;23202584;23485397;23676219;23685627;23727157;23775793;23783831;23884233;24066844;24145406;24352254;24366874;24383451;24563466;24715725;24718924;24747438;24874608;24954904;25412657;25418920;25484072;2550440;25568151;25576301;25579166;25645385;25880248;25961502;26375851;26652033;26811146;26902588;26952388;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29632046;30118680;30315122;30410026;30484775;30779550;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33912179;33936100;33968037;33981976;34171305;34357683;34509645;34561969;34932366;35051231;35580925;36215666;36241641;37938771;38177907;38665916;40914422;5666113;7628435;7979252;7989588;8094051;8119488;8549768;8621499;8664345;8779952;9374491;9925639;9926927", "class_list": "", "function": "AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism (PubMed:21680840, PubMed:24563466). In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation (PubMed:21680840, PubMed:24563466). AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators (PubMed:21680840, PubMed:24563466). Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin (PubMed:21680840, PubMed:24563466). Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits (PubMed:21680840, PubMed:24563466). ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit (PubMed:21680840, PubMed:24563466). ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive (PubMed:21680840, PubMed:24563466)., [UniProtKB, PubMed, PubMed]; S-nitrosylation of AMPKgamma impairs coronary collateral circulation and disrupts VSMC reprogramming., [RefSeq, PubMed]; The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [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": 3, "reported_glycation": 0, "reported_snv": 0, "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": "B4DDT7;Q8N7V9", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0004679 AMP-activated protein kinase activity;GO:0004691 cAMP-dependent protein kinase activity;GO:0008603 cAMP-dependent protein kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol", "go_biological_process": "GO:0006110 regulation of glycolytic process;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0007283 spermatogenesis;GO:0006633 fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 24.7, "record_id": "P54619-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13107-1", "uniprot_id": "UBP4_HUMAN", "mass": 108565.0, "length": 963, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 4", "gene_name": "USP4", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 4 isoform c", "refseq_ac": "NP_001238806", "gene_names_uniprotkb": "USP4; UNPH; UNP", "gene_names_refseq": "UNP; USP4; Unph", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 4; 3.4.19.12; Deubiquitinating enzyme 4; Ubiquitin thioesterase 4; Ubiquitin-specific-processing protease 4; Ubiquitous nuclear protein homolog", "protein_names_refseq": "deubiquitinating enzyme 4; ubiquitin carboxyl-terminal esterase 4; ubiquitin carboxyl-terminal hydrolase 4 isoform c; ubiquitin carboxyl-terminal hydrolase 4; ubiquitin specific peptidase 4 (proto-oncogene); ubiquitin specific protease 4 (proto-oncogene); ubiquitin thioesterase 4; ubiquitin thiolesterase 4; ubiquitin-specific processing protease 4; ubiquitous nuclear protein homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:7375); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5689880)", "pathway_count": 5, "publication_count": 221, "publication_id_list": "10.1101/2023.09.13.557529;10444327;10521396;10837247;10982817;11098060;11181075;11237011;11427719;11566882;11571652;11577081;11923872;12167698;12709429;12721308;12887920;12917689;12917691;14661020;14716293;15024054;15053880;15258597;15870263;15916963;16214042;16260783;16282325;16316627;16339847;16472766;16603398;16682944;16829951;16829952;16901786;16953224;16964248;17290220;17314102;17443180;17702576;17873522;17980597;17981138;18172164;18178551;18467330;18632802;18636086;18802091;19015242;19135894;19188362;19278658;19289468;19363159;19398555;19416807;19424180;19651622;19838211;19874889;19910467;20005846;20096447;20112406;20185725;20219915;20228808;20304918;20368735;20385093;20501646;20595234;21235526;21239494;21362556;21408173;21415856;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22179575;22216260;22297296;22347420;22435550;22706160;22848449;23159851;23301498;23313255;23395819;23481700;23486064;23746843;23824326;23825189;24056413;24098568;24246475;24260525;24323043;24493797;24715725;24726323;24726327;24896179;25197364;25305019;25404403;25505266;25565632;25576301;25578727;25645385;25880248;26154972;26344099;26900751;26992070;26997266;27307491;27458237;27543614;27545878;27552911;27591049;27600516;27846572;27862975;27920218;28063628;28228285;28506461;28604766;28832583;28904123;28920952;28920954;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29642005;29786170;30146158;30315122;30361438;30420664;30429286;30484775;30514904;30524438;30988283;31154438;31366726;31511692;31844290;31848261;31937595;32157095;32320653;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33469115;33592498;33912179;33936100;33968037;33981976;34087483;34162724;34171305;34185709;34211107;34363755;34509645;34876703;34932366;35051231;35154160;35561310;35580925;35941131;36010968;36215666;36241641;37938771;38134227;38310689;38556105;39266638;39393052;39589880;7531702;7578059;7667287;7784062;9049422;9065443;9464533", "class_list": "", "function": "Deubiquitinase USP4 suppresses antitumor immunity by inhibiting IRF3 activation and tumor cell-intrinsic interferon response in colorectal cancer., [RefSeq, PubMed]; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes., [UniProtKB, UniProtKB]; Deubiquitinating enzyme that removes conjugated ubiquitin from target proteins (PubMed:16316627, PubMed:16339847, PubMed:16472766, PubMed:20595234, PubMed:22347420, PubMed:25404403, PubMed:28604766, PubMed:30514904). Deubiquitinates PDPK1 (PubMed:22347420). Deubiquitinates TRIM21 (PubMed:16316627). Deubiquitinates receptor ADORA2A which increases the amount of functional receptor at the cell surface (PubMed:16339847). Deubiquitinates HAS2 (PubMed:28604766). Deubiquitinates MAVs leading to maintain MAVS protein stability, resulting in increased production of type I interferons (IFN-I) and enhanced antiviral innate immune responses against viral infections (PubMed:39589880). Deubiquitinates RHEB in response to EGF signaling, promoting mTORC1 signaling (PubMed:30514904). May regulate mRNA splicing through deubiquitination of the U4 spliceosomal protein PRPF3 (PubMed:20595234). This may prevent its recognition by the U5 component PRPF8 thereby destabilizing interactions within the U4/U6.U5 snRNP (PubMed:20595234). May also play a role in the regulation of quality control in the ER (PubMed:16339847)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; FBXO3 stabilizes USP4 and Twist1 to promote PI3K-mediated breast cancer metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; USP4 promotes PTC progression by stabilizing LDHA and activating the MAPK and AKT signaling pathway., [RefSeq, PubMed]; USP4 regulates TUT1 ubiquitination status in concert with SART3., [RefSeq, PubMed]; USP4 regulates ribosome biogenesis and protein synthesis for hematopoietic stem cell regeneration and leukemia progression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 18, "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": "A8K6Y0;C9IY91;O43452;O43453;Q08AK8", "ec_number_list": "2.7.11.10;2.7.11.1;2.7.11.25;3.4.19.12;2.3.2.-;2.3.2.27;2.3.2.31", "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0031685 adenosine receptor binding;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005764 lysosome", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0031647 regulation of protein stability", "synthesized_glycan_count": 0, "hit_score": 22.6, "record_id": "Q13107-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRN7-1", "uniprot_id": "ADPPT_HUMAN", "mass": 35776.0, "length": 309, "protein_name": "L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase", "gene_name": "AASDHPPT", "organism": "Human", "refseq_name": "L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase", "refseq_ac": "NP_056238", "gene_names_uniprotkb": "AASDHPPT; CGI-80; HAH-P; HSPC223; x0005", "gene_names_refseq": "AASD-PPT; AASDHPPT; ACPS; CGI-80; LYS2; LYS5", "protein_names_uniprotkb": "L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase; 2.7.8.7; 4'-phosphopantetheinyl transferase; AASD-PPT; Alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase; LYS5 ortholog", "protein_names_refseq": "4'-phosphopantetheinyl transferase; L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase; LYS5 ortholog; alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase; holo ACP synthase; holo-[acyl-carrier-protein] synthase", "tax_id": 9606, "disease": "", "pathway": " (hsa:60496); (R-HSA-199220)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10329687;10334869;10567687;10931946;11158296;11237011;11286508;12757929;12815048;17242360;17525332;18022563;18077418;18669648;18991276;19429682;19651622;19933275;20068231;21183659;21238436;23186163;23481700;23783831;24366607;24714562;24715725;25418920;26154972;26375851;26728094;26929215;26992070;27322068;27920218;28218747;28228285;28832583;28834231;28904123;29093164;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30484775;30524438;30779550;30833945;31004344;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32234503;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36983025;37938771;8934567;9516450", "class_list": "", "function": "Catalyzes the post-translational modification of target proteins by phosphopantetheine. Can transfer the 4'-phosphopantetheine moiety from coenzyme A, regardless of whether the CoA is presented in the free thiol form or as an acetyl thioester, to a serine residue of a broad range of acceptors including the acyl carrier domain of FASN., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Humans appear to utilize a single, broad specificity enzyme, 4'-phosphopantetheine transferase, for all posttranslational 4'-phosphopantetheinylation reactions, [RefSeq, PubMed]; Our study identifies human PPT as the FDH-modifying enzyme and supports the hypothesis that mammals utilize a single enzyme for all phosphopantetheinylation reactions., [RefSeq, PubMed]; The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [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": 8, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6D1;B4DDW7;Q9C068;Q9P0Q3;Q9UG80;Q9Y389", "ec_number_list": "1.1.1.100;1.3.1.39;2.3.1.38;2.3.1.39;2.3.1.41;2.3.1.85;3.1.2.14;4.2.1.59;2.7.8.7", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0008897 holo-[acyl-carrier-protein] synthase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0015939 pantothenate metabolic process;GO:0019878 lysine biosynthetic process via aminoadipic acid;GO:0009258 10-formyltetrahydrofolate catabolic process;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9NRN7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPQ3-1", "uniprot_id": "AGAP1_HUMAN", "mass": 94470.0, "length": 857, "protein_name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1", "gene_name": "AGAP1", "organism": "Human", "refseq_name": "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 1", "refseq_ac": "NP_001032208", "gene_names_uniprotkb": "AGAP1; CENTG2; KIAA1099", "gene_names_refseq": "AGAP-1; AGAP1; CENTG2; GGAP1; cnt-g2", "protein_names_uniprotkb": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1; AGAP-1; Centaurin-gamma-2; Cnt-g2; GGAP1; GTP-binding and GTPase-activating protein 1", "protein_names_refseq": "Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1; GTP-binding and GTPase-activating protein 1; arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 1; arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1; centaurin, gamma 2", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); autism spectrum disorder (Disease Ontology:DOID:0060041); cerebral palsy (Disease Ontology:DOID:1969)", "pathway": " (hsa:116987)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;12388557;12640130;12967569;15381706;15892143;16079295;18220336;18669648;19664994;19664995;23186163;23481700;24275569;25576301;25645385;26154972;26992070;27397612;27846572;29242379;29393594;29632046;30429286;30779550;30833945;31154438;31785816;31844290;31848261;32350084;32387766;33618745;33830075;35051231;37217939", "class_list": "", "function": "AGAP1 is a novel binding partner of nitric oxide-sensitive guanylyl cyclase, [RefSeq, PubMed]; AGAP1 regulates subcellular localization of FilGAP and control cancer cell invasion., [RefSeq, PubMed]; CENTG2 is an intriguing candidate gene that merits further scrutiny for its role in autism. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; CircAGAP1 promotes tumor progression by sponging miR-15-5p in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Crystal structure of the GTP-binding protein-like domain of AGAP1., [RefSeq, PubMed]; GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Overexpression inhibited formation of platelet-derived growth factor-induced ruffles and also induced loss of actin stress fibers, [RefSeq, PubMed]; The AGAP1 has been found to associate with the adaptor protein complex AP-3 and regulate the function of AP-3 endosomes., [RefSeq, PubMed]; This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 41, "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": "B2RTX7;Q541S5;Q6P9D7;Q9NV93", "ec_number_list": "", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0005525 GTP binding;GO:0005543 phospholipid binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0098845 postsynaptic endosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0015031 protein transport;GO:0099159 regulation of modification of postsynaptic structure", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9UPQ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P29274-1", "uniprot_id": "AA2AR_HUMAN", "mass": 44707.0, "length": 412, "protein_name": "Adenosine receptor A2a", "gene_name": "ADORA2A", "organism": "Human", "refseq_name": "adenosine receptor A2a", "refseq_ac": "NP_000666", "gene_names_uniprotkb": "ADORA2A; ADORA2", "gene_names_refseq": "A2aR; ADORA2A; ADORA2; RDC8", "protein_names_uniprotkb": "Adenosine receptor A2a", "protein_names_refseq": "adenosine receptor A2a; adenosine receptor subtype A2a", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); myopia (Disease Ontology:DOID:11830); primary pulmonary hypertension (Disease Ontology:DOID:14557); asthma (Disease Ontology:DOID:2841); lung disease (Disease Ontology:DOID:850)", "pathway": " (hsa:135); (R-HSA-187024); (R-HSA-417973); (R-HSA-418555); (R-HSA-5683826)", "pathway_count": 5, "publication_count": 138, "publication_id_list": "10029519;10368295;10391209;10485905;10496952;10580105;10625644;11007482;11237011;11278984;11563989;12036966;12058044;12106601;12180353;12185598;12860470;12882447;1325798;1331670;1339284;13549488;1415726;14671004;1517224;1530647;15362892;1568474;15765929;15769620;15926889;15951850;16006481;16199866;16313925;16339847;1636732;16423266;16630564;16687412;16805430;16923326;17168849;17496061;17689978;18020944;18044684;18477386;18577758;18692472;18832607;1898081;19041138;19100526;19105585;19144824;1928448;19824815;19876791;19929708;20054143;20147294;20338813;20381629;20418254;20836733;21036126;21393508;21593763;2163110;23069847;23481700;23590306;23684610;23922714;2417744;24687066;24743970;2491850;2515193;25424900;2553411;2553705;2587265;25892735;2610270;26417854;28228285;2871555;29242379;29443750;29602314;29769354;2995821;3037072;30833991;3127824;31279028;31399091;31844290;31973708;31983287;32226383;32350084;32357974;32497535;32540603;32618402;32715661;33049737;33298915;3366248;33912179;33936100;34631;35051231;35154160;36215666;3755136;3801783;38892324;6085243;7597036;7775460;8234299;8314870;8340388;8428971;8514797;8522976;8527267;8636114;8670304;8672451;9263355;9417641;9651336;9813380", "class_list": "", "function": "Crystal structures of the thermostabilized human adenosine A(2A) receptor (A(2A)R-GL31) bound to its endogenous agonist adenosine and the synthetic agonist NECA Publication Status: Online-Only, [RefSeq, PubMed]; Genetic Polymorphisms of P2RX7 but Not of ADORA2A Are Associated with the Severity of SARS-CoV-2 Infection. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for adenosine (By similarity). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (By similarity)., [UniProtKB, UniProtKB]; Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Study reports the crystal structure of the A(2A) adenosine receptor bound to an agonist UK-432097 at 2.7 angstrom resolution, [RefSeq, PubMed]; This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 17, "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": "B2R7E0", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0001609 G protein-coupled adenosine receptor activity;GO:0031802 type 5 metabotropic glutamate receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite;GO:0032279 asymmetric synapse", "go_biological_process": "GO:0006954 inflammatory response;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0007271 synaptic transmission, cholinergic;GO:0007626 locomotory behavior", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "P29274-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q04917-1", "uniprot_id": "1433F_HUMAN", "mass": 28219.0, "length": 246, "protein_name": "14-3-3 protein eta", "gene_name": "YWHAH", "organism": "Human", "refseq_name": "14-3-3 protein eta", "refseq_ac": "NP_003396", "gene_names_uniprotkb": "YWHAH; YWHA1", "gene_names_refseq": "YWHA1; YWHAH", "protein_names_uniprotkb": "14-3-3 protein eta; Protein AS1", "protein_names_refseq": "14-3-3 eta; 14-3-3 protein eta; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:7533); (R-HSA-111447); (R-HSA-1445148); (R-HSA-5625740); (R-HSA-5628897); (R-HSA-75035); (R-HSA-9735871); (R-HSA-9755779); (R-HSA-9856649)", "pathway_count": 9, "publication_count": 255, "publication_id_list": "10195903;10329961;10330186;10435585;10567402;10611221;10619026;10655586;10673502;10716435;10745013;10753910;10924361;10949026;10980602;11027551;11029283;11034341;11134534;11237011;11266503;11313932;11331307;11340051;11486029;11545734;11697890;11840323;11891324;11912130;11930005;11942626;11959846;12161445;12177059;12203114;12438239;12453409;12657644;12665801;12714747;12766774;12783890;12869586;12906785;13298683;13538944;14504289;14514689;14651849;14975237;15003508;15105503;15118077;15184667;15223;15226305;15507434;15589136;15660102;15696159;1578511;15791647;15883165;15919790;15971998;16014379;16034366;16103198;16140933;16413492;16636147;16728594;16760263;16822840;16839880;16880201;1698554;16998888;17085597;17298220;17301291;17306213;17369524;1748288;17486094;17540029;17623675;17947532;17995453;18006505;18055455;18198340;18344994;18477386;18644867;18692468;19013499;19113821;19172738;19252894;19439913;19487573;19524539;19608861;19640509;19690332;19723632;19822145;20068231;20080666;20154085;20182617;20351271;20378837;20460180;20478047;20631154;20701589;20837646;20937701;21351730;21454505;21454690;21486943;21749319;21750704;21907143;21958598;21965087;22363791;22647378;23159739;23190890;23207919;23301498;23572552;23775793;24066844;24128008;24366874;24383451;24397554;24715725;24718924;25248477;25271362;2550440;25576301;25579166;25595898;26047703;26154972;26552660;26652033;26768311;26992070;27030597;27128622;27600516;28394346;28514659;28832583;28904123;29242379;29295999;29393594;29493099;29557506;29786170;30429286;30804224;30833945;31217245;31844290;31848261;32157095;32265295;32329246;32350084;32357974;32387766;32502341;32636443;32897882;32938616;32983136;33116123;33141586;33147444;33214551;33298915;33392160;33556408;33592498;33691108;33717175;33744299;33912179;33936100;33968037;33981976;34019948;34087483;34140478;34171305;34229054;34433824;34513728;34725712;35008409;35051231;35126886;35138101;35251023;35318648;35561310;35580925;36010968;36284347;37770430;37938771;38100125;38129425;38665916;38843304;39221981;40914422;5338216;5666113;7958932;7979252;7989588;8094051;8119488;8218406;8336698;8515476;8561965;8662509;8664345;8812417;9199364;9278512;9353119;9354661;9440696;9560246;9676189;9705322;9760192;9889122;9926927;9973413;9988689", "class_list": "", "function": "14-3-3-eta interacts with BCL-2 to protect human endothelial progenitor cells from ox-LDL-triggered damage., [RefSeq, PubMed]; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1., [UniProtKB, PubMed]; GREM1 Negatively Regulates Osteo-/Dentinogenic Differentiation of Dental Pulp Stem Cells via Association with YWHAH., [RefSeq, PubMed]; Mir-142-3P regulates MAPK protein family by inhibiting 14-3-3eta to enhance bone marrow mesenchymal stem cells osteogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Temporal regulation of MDA5 inactivation by Caspase-3 dependent cleavage of 14-3-3eta. Publication Status: Online-Only, [RefSeq, PubMed]; This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0019899 enzyme binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0007165 signal transduction;GO:0006713 glucocorticoid catabolic process;GO:0021762 substantia nigra development;GO:0042921 nuclear receptor-mediated glucocorticoid signaling pathway", "synthesized_glycan_count": 0, "hit_score": 25.8, "record_id": "Q04917-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y3L3-1", "uniprot_id": "3BP1_HUMAN", "mass": 75713.0, "length": 701, "protein_name": "SH3 domain-binding protein 1", "gene_name": "SH3BP1", "organism": "Human", "refseq_name": "SH3 domain-binding protein 1 isoform 1", "refseq_ac": "NP_061830", "gene_names_uniprotkb": "SH3BP1", "gene_names_refseq": "ARHGAP43; SH3BP1", "protein_names_uniprotkb": "SH3 domain-binding protein 1", "protein_names_refseq": "3BP-1; SH3 domain-binding protein 1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23616); (R-HSA-9013149)", "pathway_count": 2, "publication_count": 287, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10873802;10958683;11007481;11058585;11085924;11149925;11237011;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11961559;12071859;12093360;12096337;12195014;12221096;12351724;12432077;12531887;12546821;12547822;12650940;12665586;12857875;12877655;12923183;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15302923;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16243036;16473593;16492808;16507994;16519628;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17077126;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17976533;18006505;18045877;18218625;18249095;18347018;18396277;18426980;18452278;18477386;18653540;18838382;19269969;19367720;19413330;19494238;19605563;19664994;19673492;19690332;19713215;19934221;20058876;20400958;20460433;20679435;20810653;21148482;21406692;21542010;21565175;21613211;21658605;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22424782;22475431;22608513;22734669;22891260;22970203;23186163;23209303;23223568;23255595;23288169;23434736;23481700;23572525;23707487;23718289;23940355;24086303;24259668;24275569;24335996;24352656;24714562;24715725;24841563;24859002;24933155;24960694;25024229;25211221;25428919;25645385;25704760;25721503;25795300;25862245;26129894;26154972;26465210;26529257;26811146;26887924;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;27846572;27862975;27893789;28114311;28196833;28218747;28228285;28786507;28832583;28834231;28904123;29089502;29242379;29351928;29358323;29382922;29393594;29437277;29493099;29557506;29632711;29786170;29789417;30315122;30429286;30853411;31217245;31844290;31848261;31871319;32157095;32203420;32350084;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33936100;33968037;33981976;34211107;34357683;34509645;34932366;35051231;35251023;35352878;35561310;35580925;36241641;37938771;40914422;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9843499;9988689", "class_list": "", "function": "GTPase activating protein (GAP) which specifically converts GTP-bound Rho-type GTPases including RAC1 and CDC42 in their inactive GDP-bound form. By specifically inactivating RAC1 at the leading edge of migrating cells, it regulates the spatiotemporal organization of cell protrusions which is important for proper cell migration (PubMed:21658605). Also negatively regulates CDC42 in the process of actin remodeling and the formation of epithelial cell junctions (PubMed:22891260). Through its GAP activity toward RAC1 and/or CDC42 plays a specific role in phagocytosis of large particles. Specifically recruited by a PI3 kinase/PI3K-dependent mechanism to sites of large particles engagement, inactivates RAC1 and/or CDC42 allowing the reorganization of the underlying actin cytoskeleton required for engulfment (PubMed:26465210). It also plays a role in angiogenesis and the process of repulsive guidance as part of a semaphorin-plexin signaling pathway. Following the binding of PLXND1 to extracellular SEMA3E it dissociates from PLXND1 and inactivates RAC1, inducing the intracellular reorganization of the actin cytoskeleton and the collapse of cells (PubMed:24841563)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Reciprocal interactions among Cobll1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia., [RefSeq, PubMed]; Study demonstrated a high SH3BP1 expression in cervical cancer tissues and correlated with a shorter overall survival. Its expression is even higher in cisplatin resistant cervical neoplasm tissues compared to that of the cisplatin-sensitive ones. Furthermore, SH3BP1 plays an important role in the regulation of cervical cancer cell invasion, migration, and chemoresistance through Rac1/Wav2., [RefSeq, PubMed]; This gene encodes a member of the Rho GTPase activating protein (RhoGAP) family. The encoded protein regulates Rac signaling and plays a role in cytoskeletal dynamics, cell motility and epithelial junction formation. This protein's association with the exocyst complex, which tethers secretory vesicles to the plasma membrane, has been demonstrated to be important in cell motility. In a distinct complex, this protein has been shown to regulate epithelial junction formation and morphogenesis. By interacting with the Plexin-D1 cell surface receptor, this protein mediates changes in the cytoskeleton in response to semaphorin binding. This protein may promote metastasis in human liver cancer cells and tissues. [provided by RefSeq, Mar 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 18, "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": "Q5R3N0;Q6IBZ2;Q6ZVL9;Q96HQ5;Q9NSQ9", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0017124 SH3 domain binding;GO:0030215 semaphorin receptor binding", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005912 adherens junction", "go_biological_process": "GO:0006911 phagocytosis, engulfment;GO:0007015 actin filament organization;GO:0016477 cell migration;GO:0030834 regulation of actin filament depolymerization;GO:0032956 regulation of actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 29.0, "record_id": "Q9Y3L3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99798-1", "uniprot_id": "ACON_HUMAN", "mass": 85425.0, "length": 780, "protein_name": "Aconitate hydratase, mitochondrial", "gene_name": "ACO2", "organism": "Human", "refseq_name": "aconitate hydratase, mitochondrial precursor", "refseq_ac": "NP_001089", "gene_names_uniprotkb": "ACO2", "gene_names_refseq": "ACO2; ACONM; HEL-S-284; ICRD; OCA8; OPA9", "protein_names_uniprotkb": "Aconitate hydratase, mitochondrial; 4.2.1.3; Aconitase; Citrate hydro-lyase", "protein_names_refseq": "aconitase 2, mitochondrial; aconitate hydratase, mitochondrial precursor; aconitate hydratase, mitochondrial; citrate hydro-lyase; epididymis secretory sperm binding protein Li 284; mitochondrial aconitase", "tax_id": 9606, "disease": "infantile cerebellar-retinal degeneration (Disease Ontology:DOID:0050883); optic atrophy 9 (Disease Ontology:DOID:0111442); neurodegenerative disease (Disease Ontology:DOID:1289); optic nerve disease (Disease Ontology:DOID:1891); central nervous system disease (Disease Ontology:DOID:331)", "pathway": " (hsa:50); (R-HSA-1268020); (R-HSA-71403); (R-HSA-9837999); (R-HSA-9854311)", "pathway_count": 5, "publication_count": 184, "publication_id_list": "10.1101/2023.09.13.557529;1052766;10673423;10727444;11237011;11278619;11923310;12198491;12207025;13181903;14249115;14555658;14623864;14726512;14832224;14946179;15234968;15247478;15254020;15522782;15644312;15652751;15683237;15870080;15877282;15987702;16115876;16143825;16185709;16737955;16740313;16849325;16959974;17101804;17182618;17297443;17432878;17510655;17579211;17668387;17923681;17997986;18174896;18477386;18678864;18806796;18914071;19409522;19453276;1946331;19608861;19628817;19651622;19767391;19841671;19962426;2005110;20068231;20167786;20435888;20593814;20847235;21750375;22262461;22405087;22416140;22710082;23041349;23186163;23201127;23481700;23564345;23597483;23747254;23811401;23931759;24315374;24520911;24715725;24954416;24954417;25315652;25351951;25418920;25564869;25576301;26154972;26504172;26697887;26749241;26811146;26923599;26992070;27189937;27374498;27397612;27452731;27496948;27642048;27846572;27862975;28063628;28228285;28377575;28380382;28391595;28396416;28510447;28514659;28832583;28855257;28887308;28904123;29242379;29301859;29351928;29393594;29557506;29632046;29632711;29786170;29789417;29932645;30120231;30315122;30484775;30761759;30844107;31154438;31217245;31327635;31530632;31695197;31844290;31848261;32119511;32157095;32350084;32357974;32387766;32488085;32938616;32983136;33058874;33141586;33257573;33298915;33392160;33592498;33676027;33912179;33936100;33968037;34289383;34357683;34704252;34725712;34943861;35051231;35251023;35366151;35580925;35870450;36139014;36215666;36241641;36420423;36629048;37074911;37938771;38007539;38278202;38665916;39337438;7623837;8200987;8616157;9630632;9765290;9765291;9792106;9792662;9809442;9989622", "class_list": "", "function": "ACO2 deficiency increases vulnerability to Parkinson's disease via dysregulating mitochondrial function and histone acetylation-mediated transcription of autophagy genes. Publication Status: Online-Only, [RefSeq, PubMed]; AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients., [RefSeq, PubMed]; Catalyzes the isomerization of citrate to isocitrate via cis-aconitate., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Loss of mitochondrial aconitase promotes colorectal cancer progression via SCD1-mediated lipid remodeling., [RefSeq, PubMed]; Mitochondrial Aconitase and Its Contribution to the Pathogenesis of Neurodegenerative Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O75809;Q5JZ41;Q6FHX0;Q8TAQ6", "ec_number_list": "2.3.3.1;7.1.1.2;3.6.4.10;1.4.1.3;1.2.1.3;6.4.1.3;7.1.2.2;4.2.1.2;1.2.4.1;7.1.1.8;1.8.1.4;5.6.1.7;2.3.1.168;2.3.1.-;2.3.1.37;4.2.1.3;4.98.1.1;1.1.1.38;2.3.1.9;1.2.1.36;1.7.1.-;1.2.1.28;3.4.21.53;1.1.1.37;5.3.3.8;1.3.8.1;1.3.8.5;1.1.1.42;3.1.2.2;1.1.1.41;2.3.3.10;2.8.3.5;3.5.3.1;1.2.4.2;1.1.1.30;5.3.3.21;2.7.11.2;2.7.11.-;1.16.3.1;3.4.21.92;1.1.1.35;2.7.1.23;6.2.1.-;6.2.1.4;5.6.2.3;1.1.1.62;1.1.1.239;1.1.1.178;1.1.1.53;1.1.1.159;6.1.1.5;2.3.1.41;3.6.1.-", "go_molecular_function": "GO:0003994 aconitate hydratase activity;GO:0005506 iron ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0046872 metal ion binding;GO:0051536 iron-sulfur cluster binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0006099 tricarboxylic acid cycle;GO:0006101 citrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 19.1, "record_id": "Q99798-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PN6-1", "uniprot_id": "ADCYA_HUMAN", "mass": 187149.0, "length": 1610, "protein_name": "Adenylate cyclase type 10", "gene_name": "ADCY10", "organism": "Human", "refseq_name": "adenylate cyclase type 10 isoform 2", "refseq_ac": "NP_001161221", "gene_names_uniprotkb": "ADCY10; SAC", "gene_names_refseq": "ADCY10; HCA2; HEL-S-7a; SACI; SAC; Sacy; hsAC", "protein_names_uniprotkb": "Adenylate cyclase type 10; 4.6.1.1; AH-related protein; Adenylate cyclase homolog; Germ cell soluble adenylyl cyclase; Testicular soluble adenylyl cyclase; hsAC; sAC", "protein_names_refseq": "3',5'-cyclic AMP synthetase; AH-related protein; ATP pyrophosphate-lyase; adenylate cyclase 10, soluble; adenylate cyclase type 10 isoform 2; adenylate cyclase type 10; epididymis secretory sperm binding protein Li 7a; germ cell soluble adenylyl cyclase; testicular soluble adenylyl cyclase (SAC)", "tax_id": 9606, "disease": "hypercalciuria, absorptive, 2 (MONDO:MONDO:0007748)", "pathway": " (hsa:55811); (R-HSA-5610787)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "10966113;11237011;11375483;11423534;11932268;12192414;12435627;12475901;12609998;14603322;15087129;15659711;15930098;16061793;16136078;16229832;16254602;16311594;16339192;16396903;16493421;16707575;17027958;17200122;17442700;17553904;17591988;17641202;17762891;17924679;17960137;18327258;18455992;18832070;19000668;19196978;19223390;19286674;19365551;19549984;19592253;19666503;19767740;19776033;19877275;19906846;19948480;19996169;20067783;20154143;20207148;20395968;20412786;20460306;20844016;20889716;20956384;2105456;21209331;21695114;21801010;22007132;22231273;22391300;23209152;23332756;23481700;23719536;24302888;24339784;24567411;24616449;24845016;24863049;24917297;24925320;24952464;25040695;29242379;29557506;30379171;32938616;33141586;33392160;33412125;33633747;33897873;33936100;34105348;35051231;35254053;36215666;37217939;38258300", "class_list": "", "function": "Catalyzes the formation of the signaling molecule cAMP (PubMed:12609998, PubMed:15659711, PubMed:24567411, PubMed:24616449, PubMed:25040695). May function as sensor that mediates responses to changes in cellular bicarbonate and CO(2) levels (PubMed:15659711, PubMed:17591988). Has a critical role in mammalian spermatogenesis by producing the cAMP which regulates cAMP-responsive nuclear factors indispensable for sperm maturation in the epididymis. Induces capacitation, the maturational process that sperm undergo prior to fertilization (By similarity). Involved in ciliary beat regulation (PubMed:17591988)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Endogenous glutamate determines ferroptosis sensitivity via ADCY10-dependent YAP suppression in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Soluble adenylyl cyclase regulates the cytosolic NADH/NAD(+) redox state and the bioenergetic switch between glycolysis and oxidative phosphorylation., [RefSeq, PubMed]; The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014]., [RefSeq]; Two novel heterozygous ADCY10 variants identified in Chinese pediatric patients with absorptive hypercalciuria: case report and literature review. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 40, "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": "B4DZF0;F5GWS5;O95558;Q5R329;Q5R330;Q8WXV4;Q9NNX0", "ec_number_list": "4.6.1.1;2.7.7.85;3.6.5.-", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004016 adenylate cyclase activity;GO:0005524 ATP binding;GO:0030145 manganese ion binding;GO:0051117 ATPase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:1903427 negative regulation of reactive oxygen species biosynthetic process;GO:0045819 positive regulation of glycogen catabolic process;GO:2001171 positive regulation of ATP biosynthetic process;GO:0003351 epithelial cilium movement involved in extracellular fluid movement;GO:0006171 cAMP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q96PN6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96SE0-1", "uniprot_id": "ABHD1_HUMAN", "mass": 45221.0, "length": 405, "protein_name": "Protein ABHD1", "gene_name": "ABHD1", "organism": "Human", "refseq_name": "protein ABHD1", "refseq_ac": "NP_115993", "gene_names_uniprotkb": "ABHD1; LABH1", "gene_names_refseq": "ABHD1; LABH1", "protein_names_uniprotkb": "Protein ABHD1; 3.1.1.-; Abhydrolase domain-containing protein 1; Alpha/beta hydrolase domain-containing protein 1; Lung alpha/beta hydrolase 1", "protein_names_refseq": "abhydrolase domain-containing protein 1; alpha/beta hydrolase domain-containing protein 1; lung alpha/beta hydrolase 1; protein ABHD1; testicular tissue protein Li 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:84696)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;11922611;12735795;22898188;29093164;34545688", "class_list": "", "function": "Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children., [RefSeq, PubMed]; The mouse ortholog of ABHD1 is sequenced and tissue-specific mRNA expression is described., [RefSeq, PubMed]; This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [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": 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": "B3KSF6;E9PDR9;Q05BY3;Q53SZ1;Q8IXQ7", "ec_number_list": "", "go_molecular_function": "GO:0047372 monoacylglycerol lipase activity;GO:0008126 acetylesterase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0051793 medium-chain fatty acid catabolic process;GO:0051792 medium-chain fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q96SE0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99965-1", "uniprot_id": "ADAM2_HUMAN", "mass": 82457.0, "length": 735, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 2", "gene_name": "ADAM2", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 2 isoform 2 precursor", "refseq_ac": "NP_001265042", "gene_names_uniprotkb": "ADAM2; FTNB", "gene_names_refseq": "ADAM2; CRYN1; CRYN2; CT15; FTNB; PH-30b; PH30-beta; PH30", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 2; ADAM 2; CT15; Cancer/testis antigen 15; Fertilin subunit beta; PH-30; PH30-beta; PH30", "protein_names_refseq": "cancer/testis antigen 15; disintegrin and metalloproteinase domain-containing protein 2 isoform 2 precursor; disintegrin and metalloproteinase domain-containing protein 2; fertilin subunit beta", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:2515); (R-HSA-2534343)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "20364096;26252478;28832583;29789417;30463455;35933293;37074911;8195297;8702389;9041139;9070941", "class_list": "", "function": "ADAM2, CALR3 and SAGE1 cancer/testis antigens are not promising targets for immunotherapy of breast and lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Assessing the potential of HSPA2 and ADAM2 as two biomarkers for human sperm selection., [RefSeq, PubMed]; Is there a relationship between infertility and fertilin beta protein distribution?, [RefSeq, PubMed]; Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization. Could have a direct role in sperm-zona binding or migration of sperm from the uterus into the oviduct. Interactions with egg membrane could be mediated via binding between its disintegrin-like domain to one or more integrins receptors on the egg. This is a non catalytic metalloprotease-like protein., [UniProtKB]; This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "P78326;Q9UQQ8", "ec_number_list": "", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0005178 integrin binding;GO:0008237 metallopeptidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006508 proteolysis;GO:0007155 cell adhesion;GO:0007339 binding of sperm to zona pellucida;GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0008584 male gonad development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q99965-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BUB4-1", "uniprot_id": "ADAT1_HUMAN", "mass": 55392.0, "length": 502, "protein_name": "tRNA-specific adenosine deaminase 1", "gene_name": "ADAT1", "organism": "Human", "refseq_name": "tRNA-specific adenosine deaminase 1 isoform b", "refseq_ac": "NP_001311373", "gene_names_uniprotkb": "ADAT1", "gene_names_refseq": "ADAT1; HADAT1", "protein_names_uniprotkb": "tRNA-specific adenosine deaminase 1; 3.5.4.34; hADAT1; tRNA-specific adenosine-37 deaminase", "protein_names_refseq": "adenosine deaminase acting on tRNA; tRNA-specific adenosine deaminase 1 isoform b; tRNA-specific adenosine-37 deaminase", "tax_id": 9606, "disease": "", "pathway": " (hsa:23536); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;17071714;18567810;19017811;19414587;19844255;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22424782;22591353;22995836;23042678;23048041;23381944;23481700;23604283;24126054;24204302;24714562;24901367;25261850;25404562;25576301;25645385;25916855;26154972;26160102;26310293;26728094;27055666;27846572;27862975;29557506;30429286;31481669;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33936100;33968037;34087483;34171305;34211107;34405274;34509645;35051231;35580925;36010968;36241641;36284347;36610787;9430663;9851972", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Specifically deaminates adenosine-37 to inosine in tRNA-Ala., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. Alternatively spliced transcript variants 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q9NVB7;Q9UNG3", "ec_number_list": "3.5.4.34", "go_molecular_function": "GO:0003723 RNA binding;GO:0008251 tRNA-specific adenosine deaminase activity;GO:0046872 metal ion binding;GO:0043829 tRNA-specific adenosine-37 deaminase activity", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0008033 tRNA processing", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9BUB4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0C2-1", "uniprot_id": "ADT4_HUMAN", "mass": 35022.0, "length": 315, "protein_name": "ADP/ATP translocase 4", "gene_name": "SLC25A31", "organism": "Human", "refseq_name": "ADP/ATP translocase 4 isoform 2", "refseq_ac": "NP_001305396", "gene_names_uniprotkb": "SLC25A31; AAC4; ANT4; SFEC", "gene_names_refseq": "AAC4; ANT 4; ANT4; SFEC35kDa; SLC25A31", "protein_names_uniprotkb": "ADP/ATP translocase 4; ADP,ATP carrier protein 4; ANT 4; Adenine nucleotide translocator 4; Solute carrier family 25 member 31; Sperm flagellar energy carrier protein", "protein_names_refseq": "ADP,ATP carrier protein 4; ADP/ATP translocase 4 isoform 2; ADP/ATP translocase 4; adenine nucleotide translocase 4; adenine nucleotide translocator 4; adenine nucleotide translocator), member 31; solute carrier family 25 (mitochondrial carrier; sperm flagellar energy carrier protein", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 12b (Disease Ontology:DOID:0080335); autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 (Disease Ontology:DOID:0111517); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:83447)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11230166;15670820;17137571;17681941;19556438;20060930;20068231;20877624;25787250;27641616;29557506;31844290;33298915;33396658;33592498;33912179;33936100;34171305;35051231", "class_list": "", "function": "ADP:ATP antiporter that mediates import of ADP into the mitochondrial matrix for ATP synthesis, and export of ATP out to fuel the cell (By similarity) (PubMed:15670820). Cycles between the cytoplasmic-open state (c-state) and the matrix-open state (m-state): operates by the alternating access mechanism with a single substrate-binding site intermittently exposed to either the cytosolic (c-state) or matrix (m-state) side of the inner mitochondrial membrane (By similarity). Specifically required during spermatogenesis, probably to mediate ADP:ATP exchange in spermatocytes (PubMed:17137571). Large ATP supplies from mitochondria may be critical for normal progression of spermatogenesis during early stages of meiotic prophase I, including DNA double-strand break repair and chromosomal synapsis (By similarity). In addition to its ADP:ATP antiporter activity, also involved in mitochondrial uncoupling and mitochondrial permeability transition pore (mPTP) activity (By similarity). Plays a role in mitochondrial uncoupling by acting as a proton transporter: proton transport uncouples the proton flows via the electron transport chain and ATP synthase to reduce the efficiency of ATP production and cause mitochondrial thermogenesis (By similarity). Proton transporter activity is inhibited by ADP:ATP antiporter activity, suggesting that SLC25A31/ANT4 acts as a master regulator of mitochondrial energy output by maintaining a delicate balance between ATP production (ADP:ATP antiporter activity) and thermogenesis (proton transporter activity) (By similarity). Proton transporter activity requires free fatty acids as cofactor, but does not transport it (By similarity). Among nucleotides, may also exchange ADP for dATP and dADP (PubMed:15670820). Also plays a key role in mPTP opening, a non-specific pore that enables free passage of the mitochondrial membranes to solutes of up to 1.5 kDa, and which contributes to cell death (By similarity). It is however unclear if SLC25A31/ANT4 constitutes a pore-forming component of mPTP or regulates it (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Data highlight a cytoprotective activity of ANT4, and provide a novel dichotomy in the ANT isoform sub-family with ANT1 and 3 isoforms functioning as pro-apoptotic while ANT2 and 4 isoforms render cells resistant to death inducing stimuli, [RefSeq, PubMed]; Differential Expression of ADP/ATP Carriers as a Biomarker of Metabolic Remodeling and Survival in Kidney Cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Male mice with disruptions of Slc25a31 are sterile and display an early meiotic arrest phenotype., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The co-localization of SFEC and glycolytic enzymes in the fibrous sheath supports a growing literature that the principal piece of the flagellum is capable of generating and regulating ATP independently from mitochondrial oxidation in the mid-piece., [RefSeq, PubMed]; The protein encoded by this gene is a member of the ADP/ATP carrier family of proteins that exchange cytosolic ADP for matrix ATP in the mitochondria. Cells over-expressing this gene have been shown to display an anti-apoptotic phenotype. This protein is also thought to play a role in spermatogenesis, where it is believed to associate with a part of the flagellar cytoskeleton and with glycolytic enzymes. Male mice with mutations in the mouse ortholog of this gene are sterile and spermatocytes display an early meiotic arrest phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0005471 ATP:ADP antiporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane;GO:0005757 mitochondrial permeability transition pore complex", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0046902 regulation of mitochondrial membrane permeability;GO:0007141 male meiosis I;GO:0140021 mitochondrial ADP transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9H0C2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPC4-1", "uniprot_id": "A4GAT_HUMAN", "mass": 40499.0, "length": 353, "protein_name": "Lactosylceramide 4-alpha-galactosyltransferase", "gene_name": "A4GALT", "organism": "Human", "refseq_name": "lactosylceramide 4-alpha-galactosyltransferase", "refseq_ac": "NP_001304967", "gene_names_uniprotkb": "A4GALT; A14GALT; A4GALT1", "gene_names_refseq": "A14GALT; A4GALT1; A4GALT; Gb3S; P(k); P1PK; P1; PK", "protein_names_uniprotkb": "Lactosylceramide 4-alpha-galactosyltransferase; 2.4.1.228; Alpha-1,4-N-acetylglucosaminyltransferase; Alpha-1,4-galactosyltransferase; Alpha4Gal-T1; CD77 synthase; Gb3 synthase; Globotriaosylceramide synthase; P1/Pk synthase; UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase", "protein_names_refseq": "CD77 synthase; GB3 synthase; P blood group (P one antigen); P one antigen (P blood group); P(k) antigen synthase; P1/Pk synthase; UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase; alpha 1,4-galactosyltransferase (P blood group); alpha 14-galactosyltransferase; alpha-1,4-N-acetylglucosaminyltransferase; alpha-1,4-galactosyltransferase; alpha4Gal-T1; globotriaosylceramide synthase; lactosylceramide 4-alpha-galactosyltransferase", "tax_id": 9606, "disease": "obsolete blood group, p1pk system (MONDO:MONDO:0044222)", "pathway": " (hsa:53947); (R-HSA-9840309)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10.1101/2023.09.13.557529;10601645;10747952;10748143;10993874;10993897;11018043;11283017;11782470;11896312;11956206;12222957;12668675;12815231;12888565;15014171;1601877;16934889;20547865;2118655;22735313;22965229;23090970;23290777;23746551;23882130;24190977;24498430;25892735;26773500;26811146;27862975;28904123;29242379;29393594;29572228;29802621;30459171;31154438;31844290;33298915;33460651;33717175;33912179;33968037;33978735;34357683;34982351;35154160;35580925;35671609;35929100;36581221;38501748;7072192;7876235;7890749;8643456;8830034;8910600;8920913;9030544;9125199;9199191;9582303;9822625;9920164", "class_list": "glycogene;glycosyltransferase", "function": "(Microbial infection) P1 and Pk antigens are targeted by Shiga toxins (also called verotoxins), as a way to enter the cell, inhibit protein synthesis and induce apoptosis., [UniProtKB, PubMed, PubMed]; Glycosyltransferase involved in biosynthesis of P1, P(k) and the rare NOR antigens of P1PK histo-blood group system (PubMed:10747952, PubMed:10748143, PubMed:22965229, PubMed:26773500, PubMed:29572228, PubMed:33460651). Catalyzes the transfer of galactose from UDP-alpha-D-galactose in an alpha1,4 linkage to lactosylceramide/beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(d18:1(4E)) to produce globotriaosylceramide/globoside Gb3Cer (d18:1(4E)), also known as P(k) antigen or CD77 (PubMed:10748143, PubMed:10747952, PubMed:26773500, PubMed:29572228, PubMed:22965229). Globoside Gb3Cer/P(k)/CD77 is a root structure in biosynthesis pathway of neutral glycosphingolipids of the globo-series. Broadly expressed in cell membranes of immune cells and other tissues, Gb3Cer/P(k)/CD77 antigen may participate in mechanisms that regulate cell-cell interactions and cell differentiation. In germinal center B cells, Gb3Cer/CD77 interacts with CD19 to drive centroblast-to-centrocyte transition, B cell receptor complex assembly and T follicular helper cell differentiation. In epithelium, Gb3Cer regulates CDH1/E-cadherin-dependent cell-cell adhesion counteracting epithelial-to-mesenchymal transition (By similarity) (PubMed:29572228). Synthesizes P1 glycan epitope (alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-GlcNAc-R) by transferring a galactose moiety to paragloboside nLc4 or to complex-type N-glycans (PubMed:26773500, PubMed:29572228, PubMed:33460651). Generates the rare NOR1 and NOR2 antigens which carry a Gal(alpha1->4)GalNAc terminal moiety and are both derived from Gb4Cer precursor (PubMed:22965229, PubMed:26773500, PubMed:33460651). Also able to transfer galactose to galactosylceramide/beta-D-Gal-(1<->1')-Cer (PubMed:10748143)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Human Gb3/CD77 synthase produces P1 glycotope-capped N-glycans, which mediate Shiga toxin 1 but not Shiga toxin 2 cell entry., [RefSeq, PubMed]; Identification of a novel A4GALT*299A allele associated with the rare p phenotype in one Chinese family., [RefSeq, PubMed]; Identification of a novel P1PK allele (A4GALT*c.1-504_1044del1548) in two Chinese sisters with a history of recurrent spontaneous abortion., [RefSeq, PubMed]; Missing the sweet spot: one of the two N-glycans on human Gb3/CD77 synthase is expendable., [RefSeq, PubMed]; Results strongly suggested that P1 synthase is identical to Gb3/CD77 synthase, [RefSeq, PubMed]; The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 516, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2R7C4;Q9P1X5", "ec_number_list": "2.4.1.228", "go_molecular_function": "GO:0008378 galactosyltransferase activity;GO:0015643 toxic substance binding;GO:0050512 lactosylceramide 4-alpha-galactosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0007009 plasma membrane organization", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9NPC4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPJ3-1", "uniprot_id": "ACO13_HUMAN", "mass": 14960.0, "length": 140, "protein_name": "Acyl-coenzyme A thioesterase 13", "gene_name": "ACOT13", "organism": "Human", "refseq_name": "acyl-coenzyme A thioesterase 13 isoform 2", "refseq_ac": "NP_001153566", "gene_names_uniprotkb": "ACOT13; HT012; PNAS-27; THEM2", "gene_names_refseq": "ACOT13; HT012; PNAS-27; THEM2", "protein_names_uniprotkb": "Acyl-coenzyme A thioesterase 13; 3.1.2.-; 3.1.2.2; Acyl-CoA thioesterase 13; Hotdog-fold thioesterase superfamily member 2; Palmitoyl-CoA hydrolase; THEM2; Thioesterase superfamily member 2", "protein_names_refseq": "acyl-coenzyme A thioesterase 13 isoform 2; acyl-coenzyme A thioesterase 13; hotdog-fold thioesterase superfamily member 2; hypothalamus protein HT012; palmitoyl-CoA hydrolase; thioesterase superfamily member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55856); (R-HSA-77289)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10931946;11696000;12882974;15638818;16423998;16934754;16940157;17045243;17704541;17762044;17953517;18268358;19170545;20068231;20338778;20470824;21237683;22223895;22465940;22586271;22871024;22898188;23481700;23700546;23901139;24080521;24715725;24732803;25002576;25576301;26290611;26992070;28228285;28832583;28834231;29242379;29314611;30429286;30833945;31217245;31530632;31844290;32157095;32938616;33141586;33298915;33912179;33968037;34561969;34886911;35580925;36010968;36215666;36241641;39172111;4721607;8241273", "class_list": "", "function": "Acyl-CoA thioesterase 13 (ACOT13) attenuates the progression of autosomal dominant polycystic kidney disease in vitro via triggering mitochondrial-related cell apoptosis., [RefSeq, PubMed]; Analysis of human thioesterase superfamily member 2 crystal structure, [RefSeq, PubMed]; Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels (PubMed:16934754, PubMed:19170545). Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates (By similarity) (PubMed:16934754, PubMed:19170545). Can also hydrolyze 3-hydroxyphenylacetyl-CoA and 3,4-dihydroxyphenylacetyl-CoA (in vitro) (By similarity) (PubMed:16934754, PubMed:19170545). May play a role in controlling adaptive thermogenesis (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Identification of ACOT13 and PTGER2 as novel candidate genes of autosomal dominant polycystic kidney disease through whole exome sequencing. Publication Status: Online-Only, [RefSeq, PubMed]; Small interference RNA silencing in cell line HCT116 shows that the hthem2 gene is essential for the cell sustained proliferation., [RefSeq, PubMed]; This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009]., [RefSeq]; Yeast two-hybrid screening using libraries prepared from mouse liver and embryo identified Them2 (thioesterase superfamily member 2) and the homeodomain transcription factor Pax3 (paired box gene 3), respectively, as PC-TP-interacting proteins., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 6, "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": "F5H2L4;O95549", "ec_number_list": "3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;3.1.1.4;3.1.1.5;3.1.2.-;2.3.1.16;2.3.1.9;3.1.2.22;2.3.1.65;3.5.2.6;3.1.2.14", "go_molecular_function": "GO:0046872 metal ion binding;GO:0047617 fatty acyl-CoA hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0051289 protein homotetramerization;GO:0120163 negative regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9NPJ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBJ2-1", "uniprot_id": "ABCD2_HUMAN", "mass": 83233.0, "length": 740, "protein_name": "ATP-binding cassette sub-family D member 2", "gene_name": "ABCD2", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family D member 2 isoform 1", "refseq_ac": "NP_005155", "gene_names_uniprotkb": "ABCD2; ALD1; ALDL1; ALDRP; ALDR", "gene_names_refseq": "ABC39; ABCD2; ALDL1; ALDRP; ALDR; hALDR", "protein_names_uniprotkb": "ATP-binding cassette sub-family D member 2; 3.1.2.-; 7.6.2.-; Adrenoleukodystrophy-like 1; Adrenoleukodystrophy-related protein; hALDR", "protein_names_refseq": "ATP-binding cassette sub-family D member 2 isoform 1; ATP-binding cassette sub-family D member 2; ATP-binding cassette, sub-family D (ALD), member 2; adrenoleukodystrophy-like 1; adrenoleukodystrophy-related protein", "tax_id": 9606, "disease": "adrenoleukodystrophy (Disease Ontology:DOID:10588)", "pathway": " (hsa:225); (R-HSA-1369062); (R-HSA-9603798)", "pathway_count": 3, "publication_count": 109, "publication_id_list": "10329405;10430017;10551832;10704444;10777694;10873640;11095984;11099417;11178988;11248239;11309290;11390669;11402059;11453642;11478798;11590176;11606068;11718719;11883941;12150964;12183068;12504089;12509503;12751901;12821155;12917409;12924628;14570867;14592415;14709540;15007061;15044640;15209530;15713480;15781447;15994327;16007253;16280322;16791427;16895967;16946495;16980692;17069900;17609205;18174172;18772397;18782765;19413330;20531392;20554521;21102411;21145416;22624858;23460677;23481700;23628762;24715725;24831815;25062251;25517356;25604068;25892735;26375851;26777132;27766264;27846572;27920218;28218747;28228285;28281558;28325759;28832583;28855257;28904123;29242379;29397936;29437277;29493099;29557506;29632711;29769354;29786170;30264402;30315122;30410026;31154438;31844290;31848261;31998317;32157095;32357974;32502341;32983136;33141586;33298915;33592498;33633747;33717175;33912179;34198763;34932366;35051231;35580925;8411712;8507690;8577752;8706931;9345306;9418908", "class_list": "", "function": "ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes.ABCD4 is deduced to take part in the transport of vitamin B12 from lysosomes into the cytosol. Review article, [RefSeq, PubMed]; ABCD2 has a role, but not a strong one, in risk of early recurrent events after transient ischemic attack Publication Status: Online-Only, [RefSeq, PubMed]; ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:21145416, PubMed:29397936). Like ABCD1 seems to have fatty acyl-CoA thioesterase (ACOT) and ATPase activities, according to this model, VLCFA-CoA as free VLCFA is transported in an ATP-dependent manner into peroxisomes after the hydrolysis of VLCFA-CoA mediated by the ACOT activity of ABCD2 (Probable) (PubMed:29397936). Shows overlapping substrate specificities with ABCD1 toward saturated fatty acids (FA) and monounsaturated FA (MUFA) but has a distinct substrate preference for shorter VLCFA (C22:0) and polyunsaturated fatty acid (PUFA) such as C22:6-CoA and C24:6-CoA (in vitro) (PubMed:21145416). Thus, may play a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation (PubMed:21145416)., [UniProtKB, PubMed, PubMed, PubMed]; Peroxisomal ABC Transporters: An Update. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The functional integrity of ABCD2 may play an important role in OA pathogenesis via the accumulation of VLCFAs and stimulation of apoptotic death through altering profiles of miRNAs that target ACSL4., [RefSeq, PubMed]; The 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 ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RAM3;Q13210;Q2M3H9", "ec_number_list": "3.1.2.-;7.6.2.-;2.3.2.27;2.3.2.36;7.4.2.-", "go_molecular_function": "GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol", "go_biological_process": "GO:1903427 negative regulation of reactive oxygen species biosynthetic process;GO:0000038 very long-chain fatty acid metabolic process;GO:0006635 fatty acid beta-oxidation;GO:0032000 positive regulation of fatty acid beta-oxidation;GO:0042760 very long-chain fatty acid catabolic process", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q9UBJ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UDR5-1", "uniprot_id": "AASS_HUMAN", "mass": 102132.0, "length": 926, "protein_name": "Alpha-aminoadipic semialdehyde synthase, mitochondrial", "gene_name": "AASS", "organism": "Human", "refseq_name": "alpha-aminoadipic semialdehyde synthase, mitochondrial", "refseq_ac": "NP_005754", "gene_names_uniprotkb": "AASS", "gene_names_refseq": "AASS; LKR/SDH; LKRSDH; LORSDH", "protein_names_uniprotkb": "Alpha-aminoadipic semialdehyde synthase, mitochondrial; LKR/SDH", "protein_names_refseq": "alpha-aminoadipate semialdehyde synthase; alpha-aminoadipic semialdehyde synthase, mitochondrial; aminoadipic semialdehyde synthase; lysine-2-oxoglutarate reductase; lysine-ketoglutarate reductase /saccharopine dehydrogenase; saccharopine dehydrogenase (NAD(+), L-glutamate-forming); saccharopine dehydrogenase (NADP(+), L-lysine-forming)", "tax_id": 9606, "disease": "hyperlysinemia (Disease Ontology:DOID:9274); progressive encephalopathy with leukodystrophy due to DECR deficiency (MONDO:MONDO:0014464)", "pathway": " (hsa:10157); (R-HSA-71064)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10.1101/2023.09.13.557529;10567240;10642506;10775527;11083877;11237011;12126930;15274622;16491085;17242435;18056995;18056996;18775954;19885858;20877624;22241472;23570448;24043460;24847004;25931162;26088140;27600516;28228285;29242379;29557506;30524438;31154438;31844290;32157095;32387766;32938616;32983136;33592498;33968037;34171305;34932366;35051231;36010968;463877;6434529", "class_list": "", "function": "Bifunctional enzyme that catalyzes the first two steps in lysine degradation., [UniProtKB, PubMed, PubMed]; GR and KLF15 physically interact via low affinity GR binding sites within glucocorticoid response elements (GREs) for PRODH and AASS that contribute to combinatorial regulation with KLF15., [RefSeq, PubMed]; Hyperlysinemia is caused by mutations in AASS Publication Status: Online-Only, [RefSeq, PubMed]; Isolation and characterization of the mouse ortholog., [RefSeq, PubMed]; Mitochondrial NADPH is crucial for AASS function, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [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": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O95462", "ec_number_list": "1.5.1.8;1.5.1.9", "go_molecular_function": "GO:0004753 saccharopine dehydrogenase activity;GO:0047130 saccharopine dehydrogenase (NADP+, L-lysine-forming) activity;GO:0047131 saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity;GO:0003714 transcription corepressor activity;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006554 lysine catabolic process;GO:0019878 lysine biosynthetic process via aminoadipic acid;GO:0033512 L-lysine catabolic process to acetyl-CoA via saccharopine;GO:0006553 lysine metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9UDR5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UEY8-1", "uniprot_id": "ADDG_HUMAN", "mass": 79155.0, "length": 706, "protein_name": "Gamma-adducin", "gene_name": "ADD3", "organism": "Human", "refseq_name": "gamma-adducin isoform b", "refseq_ac": "NP_001112", "gene_names_uniprotkb": "ADD3; ADDL", "gene_names_refseq": "ADD3; ADDL; CPSQ3", "protein_names_uniprotkb": "Gamma-adducin; Adducin-like protein 70", "protein_names_refseq": "adducin 3 (gamma); adducin-like protein 70; gamma-adducin isoform b; gamma-adducin", "tax_id": 9606, "disease": "spastic quadriplegic cerebral palsy 3 (Disease Ontology:DOID:0081361); hypertension (Disease Ontology:DOID:10763); biliary atresia (Disease Ontology:DOID:13608); cerebral palsy (Disease Ontology:DOID:1969); proteinuria (Disease Ontology:DOID:576)", "pathway": " (hsa:120); (R-HSA-5223345); (R-HSA-9013405); (R-HSA-9035034)", "pathway_count": 4, "publication_count": 151, "publication_id_list": "10571941;10581174;11326272;11326338;11401429;11784792;11895774;12297987;12297989;12577064;12951058;13130483;14984739;15561718;15804357;16777452;17064668;17081983;17166836;17765681;17916560;18057121;18088087;18347014;1840603;18452278;18669648;18767875;18930737;19262752;19413330;1955075;19651622;19664994;19664995;19690332;19717468;20068231;20166139;20233848;21119010;21406692;22119785;22649030;22665057;23087206;23096567;23169667;23186163;23481700;23836506;24029068;24102721;24275569;24715725;24725410;24790029;25418920;25576301;25645385;25668492;25746724;26154972;26375851;26620797;26635246;26768311;26811146;26824658;26929215;26992070;27102039;27278019;27481945;27600516;27846572;27852748;27862975;27920218;28218747;28228285;28352266;28486133;28514659;28649982;28832583;28834231;28904123;28947137;29242379;29351928;29393594;29437277;29493099;29557506;29632711;29776664;29786170;30315122;30379171;30410026;30429286;30484775;30833945;31154438;31530632;31844290;31848261;31871319;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33196842;33298915;33592498;33912179;33936100;33968037;33981976;33992672;34087483;34171305;34509645;34632867;35051231;35318648;35561310;35580925;36215666;36241641;36284347;37248361;37605290;37834180;37938771;38665916;4018271;7615546;7619062;7749638;8893809;8945468;9114041;9537412", "class_list": "", "function": "Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]., [RefSeq]; Contribution of ADD3 and the HLA Genes to Biliary Atresia Risk in Chinese. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of long noncoding RNA SAN rejuvenates aged adipose-derived stem cells via miR-143-3p/ADD3 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping (PubMed:23836506). Binds to calmodulin (Probable). Involved in myogenic reactivity of the renal afferent arteriole (Af-art), renal interlobular arteries and middle cerebral artery (MCA) to increased perfusion pressure. Involved in regulation of potassium channels in the vascular smooth muscle cells (VSMCs) of the Af-art and MCA ex vivo. Involved in regulation of glomerular capillary pressure, glomerular filtration rate (GFR) and glomerular nephrin expression in response to hypertension. Involved in renal blood flow (RBF) autoregulation. Plays a role in podocyte structure and function. Regulates globular monomer actin (G-actin) and filamentous polymer actin (F-actin) ratios in the primary podocytes affecting actin cytoskeleton organization. Regulates expression of synaptopodin, RhoA, Rac1 and CDC42 in the renal cortex and the primary podocytes. Regulates expression of nephrin in the glomeruli and in the primary podocytes, expression of nephrin and podocinin in the renal cortex, and expression of focal adhesion proteins integrin alpha-3 and integrin beta-1 in the glomeruli. Involved in cell migration and cell adhesion of podocytes, and in podocyte foot process effacement. Regulates expression of profibrotics markers MMP2, MMP9, TGF beta-1, tubular tight junction protein E-cadherin, and mesenchymal markers vimentin and alpha-SMA (By similarity). Promotes the growth of neurites (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Posttranscriptional inhibition of gamma-adducin promotes the proliferation and migration of osteosarcoma cells., [RefSeq, PubMed]; QKI-5 regulates the alternative splicing of cytoskeletal gene ADD3 in lung cancer., [RefSeq, PubMed]; The correlation between rs2501577 gene polymorphism and biliary atresia: a systematic review and meta-analysis. 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": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DRA8;O43243;Q5VU09;Q92773;Q9UEY7", "ec_number_list": "", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005516 calmodulin binding;GO:0051015 actin filament binding;GO:0005080 protein kinase C binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005903 brush border", "go_biological_process": "GO:0051495 positive regulation of cytoskeleton organization;GO:0051016 barbed-end actin filament capping;GO:0045907 positive regulation of vasoconstriction;GO:0009410 response to xenobiotic stimulus;GO:0030833 regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q9UEY8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UMX0-1", "uniprot_id": "UBQL1_HUMAN", "mass": 62519.0, "length": 589, "protein_name": "Ubiquilin-1", "gene_name": "UBQLN1", "organism": "Human", "refseq_name": "ubiquilin-1 isoform 1", "refseq_ac": "NP_038466", "gene_names_uniprotkb": "UBQLN1; DA41; PLIC1", "gene_names_refseq": "DA41; DSK2; PLIC-1; UBQLN1; UBQN; XDRP1", "protein_names_uniprotkb": "Ubiquilin-1; PLIC-1; Protein linking IAP with cytoskeleton 1; hPLIC-1", "protein_names_refseq": "DSK2 homolog; hPLIC-1; protein linking IAP with cytoskeleton 1; testicular tissue protein Li 219; ubiquilin-1 isoform 1", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 15 (Disease Ontology:DOID:0060206); neurodegenerative disease (Disease Ontology:DOID:1289); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); frontotemporal dementia (Disease Ontology:DOID:9255)", "pathway": " (hsa:29979); (R-HSA-8856825)", "pathway_count": 2, "publication_count": 173, "publication_id_list": "10097102;10436022;10567358;10613896;10769163;10807547;10983987;11071885;11076969;11230166;11237011;11247302;11454741;11588219;11853878;11919637;11927540;11988742;12086608;12095988;12221107;12234931;12429842;12451172;12464600;12717448;12944396;12958364;1317852;14662753;14726597;15134832;15147878;1535555;15473838;15671180;15728179;16159959;16459302;16460808;16516836;16723738;16813565;16903783;17267500;17323924;17360967;17456551;17522231;17713526;18032517;18166656;18199683;18241885;18307982;18775314;18819912;18953672;19140243;19148225;19664995;1968060;19696798;19732400;19822669;19853559;20068231;20231386;20351096;20529957;20729634;21102408;21143716;21695056;21966562;21995445;22118466;22223895;22233804;22357968;22484487;2257624;22628307;22942912;23301498;23307288;23459205;23481700;23600477;23979357;24186068;24384571;24674348;24680432;24714562;24715725;24746795;25502872;25810538;26154972;26403691;26829388;26992070;27862975;28063628;28228285;28467828;28510447;28832583;28834231;28855257;28904123;2890644;29242379;29317506;29351928;29393594;29632046;29786170;30315122;31092671;31154438;31217245;31373491;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32938616;33214551;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;3417785;34357683;34433824;34509645;34561969;35008409;35051231;35138101;35251023;35580925;36010968;36241641;36284347;37463174;37938771;38665916;38902824;39534244;7569928;7822302;8553074;8837779;9169477;9303539;9723620;9812899", "class_list": "", "function": "Plays a role in unfolded protein response (UPR) by attenuating the induction of UPR-inducible genes, DDTI3/CHOP, HSPA5 and PDIA2 during ER stress (PubMed:18953672). Plays a key role in the regulation of the levels of PSEN1 by targeting its accumulation to aggresomes which may then be removed from cells by autophagocytosis (PubMed:21143716)., [UniProtKB, PubMed, PubMed]; Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (PubMed:15147878). Plays a role in the ERAD pathway via its interaction with ER-localized proteins UBXN4, VCP and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (PubMed:18307982, PubMed:19822669). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:19148225, PubMed:20529957, PubMed:23459205). Negatively regulates the TICAM1/TRIF-dependent toll-like receptor signaling pathway by decreasing the abundance of TICAM1 via the autophagic pathway (PubMed:21695056). Promotes the ubiquitination and lysosomal degradation of ORAI1, consequently down-regulating the ORAI1-mediated Ca2+ mobilization (PubMed:23307288). Suppresses the maturation and proteasomal degradation of amyloid beta A4 protein (A4) by stimulating the lysine 63 (K63)-linked polyubiquitination. Delays the maturation of A4 by sequestering it in the Golgi apparatus and preventing its transport to the cell surface for subsequent processing (By similarity). Ubiquitinates BCL2L10 and thereby stabilizes protein abundance (PubMed:22233804)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; UBQLN1 deficiency mediates telomere shortening and IPF through interacting with RPA1. Publication Status: Online-Only, [RefSeq, PubMed]; UBQLN1 links proteostasis and mitochondria function to telomere maintenance in human embryonic stem 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": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R284;Q5T6J5;Q5T6J9;Q8IXS9;Q8N2Q3;Q9H0T8;Q9H3R4;Q9HAZ5", "ec_number_list": "", "go_molecular_function": "GO:0031593 polyubiquitin modification-dependent protein binding;GO:0042802 identical protein binding;GO:0019900 kinase binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0000045 autophagosome assembly;GO:0016236 macroautophagy;GO:0016241 regulation of macroautophagy;GO:0071456 cellular response to hypoxia", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "Q9UMX0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A5X5Y0-1", "uniprot_id": "5HT3E_HUMAN", "mass": 51438.0, "length": 456, "protein_name": "5-hydroxytryptamine receptor 3E", "gene_name": "HTR3E", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 3E isoform d precursor", "refseq_ac": "NP_001243542", "gene_names_uniprotkb": "HTR3E", "gene_names_refseq": "5-HT3-E; 5-HT3E; 5-HT3c1; HTR3E", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 3E; 5-HT3-E; 5-HT3E; Serotonin receptor 3E", "protein_names_refseq": "5-hydroxytryptamine (serotonin) receptor 3, family member E; 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic; 5-hydroxytryptamine receptor 3 subunit E; 5-hydroxytryptamine receptor 3E isoform d precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:285242); (R-HSA-112314)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "11237011;11485506;12532186;12801637;1387926;14597179;16116092;16389408;17392525;17652911;18573276;18614545;18761359;19012743;20602613;20844345;21180598;21192076;2155780;22993341;23928294;24715725;25323946;25333367;25949526;26238288;28291778;29763014;29774051;35051231;7507039;7565620;7691500;8717357;9677400;9950429", "class_list": "", "function": "Data show that 5-HT3 receptors locat in the nucleus tractus silitarius contribute to stress-induced suppression of the baroreflex. Review article, [RefSeq, PubMed]; Data show that 5-HT3C, 5-HT3D, and 5-HT3E subunits are coexpressed with 5-HT3A in cell bodies of myenteric neurons, and that 5-HT3A and 5-HT3D were expressed in submucosal plexus of the human large intestine., [RefSeq, PubMed]; Forms serotonin (5-hydroxytryptamine/5-HT3)-activated cation-selective channel complexes, which when activated cause fast, depolarizing responses in neurons., [UniProtKB, PubMed]; MicroRNA-510 target site of the 3'UTR of HTR3A and HTR3E are associated with the irritable bowel syndrome with diarrhea. GeneRIF: The binding site for miR-510 is solely located in the 3' UTR of the HTR3E gene. No predicted binding site for miR-510 exists in the 3' UTR of HTR3A., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; The HTR3E remained significant after correction for the number of variants investigated., [RefSeq, PubMed]; This locus encodes a 5-hydroxytryptamine (serotonin) receptor subunit. The encoded protein, subunit E, may play a role in neurotransmission in myenteric neurons. Genes encoding subunits C, D and E form a cluster on chromosome 3. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8IKD7;E9PGF1;Q495G1;Q495G3;Q6V706;Q6V707;Q7Z6B2", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0022850 serotonin-gated monoatomic cation channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0005231 excitatory extracellular ligand-gated monoatomic ion channel activity;GO:0004888 transmembrane signaling receptor activity;GO:0005230 extracellular ligand-gated monoatomic ion channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0045211 postsynaptic membrane;GO:0043005 neuron projection;GO:1904602 serotonin-activated cation-selective channel complex", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0007268 chemical synaptic transmission;GO:0034220 monoatomic ion transmembrane transport;GO:0007210 serotonin receptor signaling pathway;GO:0140227 serotonin-gated cation-selective signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "A5X5Y0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P33897-1", "uniprot_id": "ABCD1_HUMAN", "mass": 82937.0, "length": 745, "protein_name": "ATP-binding cassette sub-family D member 1", "gene_name": "ABCD1", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family D member 1 isoform 1", "refseq_ac": "NP_000024", "gene_names_uniprotkb": "ABCD1; ALD", "gene_names_refseq": "ABC42; ABCD1; ALDP; ALD; AMN", "protein_names_uniprotkb": "ATP-binding cassette sub-family D member 1; 3.1.2.-; 7.6.2.-; ALDP; Adrenoleukodystrophy protein", "protein_names_refseq": "ATP-binding cassette sub-family D member 1 isoform 1; ATP-binding cassette, sub-family D (ALD), member 1; adrenoleukodystrophy protein", "tax_id": 9606, "disease": "adrenoleukodystrophy (Disease Ontology:DOID:10588)", "pathway": " (hsa:215); (R-HSA-1369062); (R-HSA-2046105); (R-HSA-2046106); (R-HSA-390247); (R-HSA-5684045); (R-HSA-9603798)", "pathway_count": 7, "publication_count": 206, "publication_id_list": "10190819;10198260;10227685;10369742;10430017;10480364;10551832;10601301;10704444;10737980;10769175;10777694;10873640;10899997;10970790;10980539;11095984;11099417;11178988;11237011;11248239;11309290;11390669;11402059;11438993;11453642;11478798;11500517;11514237;11590176;11606068;11673457;11718719;11734571;11748843;11810273;11883941;11988075;11992258;12150964;12183068;12323085;12323090;12504089;12509503;12562861;12713571;12716664;12751901;12821155;12897190;12917409;12924628;1346092;14570867;14592415;14636670;14709540;15007061;15044640;15060085;15209530;15643618;15682271;15713480;15781447;15811009;15994327;16007253;16213491;16280322;16385454;1651711;16791427;1679347;16895967;16940157;16946495;16980692;17069900;17609205;18174172;1834642;18538142;18669648;18691976;18757502;18782765;19007248;19056654;20068231;20531392;20554521;20661612;21102411;21145416;21700483;21889498;21966424;22176151;22493507;22534643;22624858;22745130;23460677;23628762;23651979;23671276;24714562;24715725;24719134;24831815;25062251;25517356;25576301;25645385;25892735;26154972;26375851;26686776;26777132;26811146;26992070;27846572;27862975;28218747;28281558;28325759;28456143;28904123;29397936;29437277;29493099;29557506;30410026;30429286;30484775;31154438;31217245;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33500543;33592498;33717175;33912179;33936100;33968037;34087483;34185709;34509645;35051231;35053399;35318648;35580925;35676282;36010968;36215666;36241641;36284347;36374178;36810450;37938771;486181;5411545;6798973;7061494;7561948;7581394;7668254;7717396;7825602;7849723;7860075;7904210;8040304;8096621;8411712;8441467;8507690;8566952;8609415;8651290;8656081;8706931;8832760;8902629;9089413;9345306;9418908;9452087;9553942;9584268;9684854;9704073;9732298", "class_list": "", "function": "ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:11248239, PubMed:15682271, PubMed:16946495, PubMed:18757502, PubMed:21145416, PubMed:23671276, PubMed:29397936, PubMed:33500543). Coupled to the ATP-dependent transporter activity also has a fatty acyl-CoA thioesterase activity (ACOT) and hydrolyzes VLCFA-CoA into VLCFA prior their ATP-dependent transport into peroxisomes, the ACOT activity is essential during this transport process (PubMed:29397936, PubMed:33500543). Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation (PubMed:21145416, PubMed:23671276). Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Also controls the cellular response to oxidative stress by regulating mitochondrial functions such as mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Structural and functional insights of the human peroxisomal ABC transporter ALDP. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1. Publication Status: Online-Only, [RefSeq, PubMed]; Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP. Publication Status: Online-Only, [RefSeq, PubMed]; Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy. Publication Status: Online-Only, [RefSeq, PubMed]; The 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 ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [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": 18, "reported_glycation": 0, "reported_snv": 17, "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": "Q6GTZ2", "ec_number_list": "3.1.2.-;7.6.2.-;2.3.2.27;2.3.2.36;3.1.2.2;3.1.2.27;2.3.1.65;7.4.2.-", "go_molecular_function": "GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:1903427 negative regulation of reactive oxygen species biosynthetic process;GO:0051900 regulation of mitochondrial depolarization;GO:0000038 very long-chain fatty acid metabolic process;GO:0006635 fatty acid beta-oxidation;GO:0032000 positive regulation of fatty acid beta-oxidation", "synthesized_glycan_count": 0, "hit_score": 20.7, "record_id": "P33897-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95342-1", "uniprot_id": "ABCBB_HUMAN", "mass": 146407.0, "length": 1321, "protein_name": "Bile salt export pump", "gene_name": "ABCB11", "organism": "Human", "refseq_name": "bile salt export pump", "refseq_ac": "NP_003733", "gene_names_uniprotkb": "ABCB11; BSEP", "gene_names_refseq": "ABC16; ABCB11; BRIC2; BSEP; PFIC-2; PFIC2; PGY4; SPGP", "protein_names_uniprotkb": "Bile salt export pump; 7.6.2.-; ATP-binding cassette sub-family B member 11", "protein_names_refseq": "ABC member 16, MDR/TAP subfamily; ATP-binding cassette sub-family B member 11; ATP-binding cassette, sub-family B (MDR/TAP), member 11; bile salt export pump; progressive familial intrahepatic cholestasis 2; sister p-glycoprotein", "tax_id": 9606, "disease": "progressive familial intrahepatic cholestasis 2 (Disease Ontology:DOID:0070222); benign recurrent intrahepatic cholestasis 2 (Disease Ontology:DOID:0070232); alcoholic hepatitis (Disease Ontology:DOID:12351); cholestasis (Disease Ontology:DOID:13580); cystic fibrosis (Disease Ontology:DOID:1485); intrahepatic cholestasis (Disease Ontology:DOID:1852); liver cirrhosis (Disease Ontology:DOID:5082)", "pathway": " (hsa:8647); (R-HSA-159418); (R-HSA-193368); (R-HSA-5678520)", "pathway_count": 4, "publication_count": 96, "publication_id_list": "10051404;10092594;10334992;10334993;10358072;10479480;10579978;10601278;10655068;10749848;10884298;10987286;11060344;11067870;11158055;11159893;11237011;11387316;11673457;11815775;11829140;11870371;11980911;12220224;12393883;12404239;12404240;12486725;12663868;12679481;12704183;12815072;13416382;1400444;14699511;15077010;15300568;15791618;15901796;16039748;16317684;16332456;16541101;16763017;16799996;16908160;17082223;1708392;17264802;17650074;18245269;18829893;18985798;19228692;20010382;20166139;2019602;2037576;20398791;22262466;23018617;23337244;2384150;24275569;24711118;24969679;29507376;29557506;29786170;30431138;32161166;32203132;32350084;32387766;33141586;34171305;34357683;35051231;35494241;35580925;36995996;37949847;38108658;38164042;7077161;7508385;7557095;7588781;7649182;8034703;8132774;8387517;8902629;8943006;9660774;9806540", "class_list": "", "function": "Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates in hepatic bile acid homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner (PubMed:15791618, PubMed:16332456, PubMed:18985798, PubMed:19228692, PubMed:20010382, PubMed:20398791, PubMed:22262466, PubMed:24711118, PubMed:29507376, PubMed:32203132). Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts (PubMed:16332456). Also transports non-bile acid compounds, such as pravastatin and fexofenadine in an ATP-dependent manner and may be involved in their biliary excretion (PubMed:15901796, PubMed:18245269)., [UniProtKB, 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]; Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment., [RefSeq, PubMed]; Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis of bile salt extrusion and small-molecule inhibition in human BSEP. Publication Status: Online-Only, [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. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 10, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q53TL2;Q9UNB2", "ec_number_list": "7.6.2.2;7.6.2.-;7.6.2.3", "go_molecular_function": "GO:0005524 ATP binding;GO:0008559 ABC-type xenobiotic transporter activity;GO:0015126 canalicular bile acid transmembrane transporter activity;GO:0015432 ABC-type bile acid transporter activity;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0055037 recycling endosome;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0006699 bile acid biosynthetic process;GO:0055085 transmembrane transport;GO:0055088 lipid homeostasis;GO:0015721 bile acid and bile salt transport", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "O95342-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00257-1", "uniprot_id": "CBX4_HUMAN", "mass": 61368.0, "length": 560, "protein_name": "E3 SUMO-protein ligase CBX4", "gene_name": "CBX4", "organism": "Human", "refseq_name": "E3 SUMO-protein ligase CBX4", "refseq_ac": "NP_003646", "gene_names_uniprotkb": "CBX4", "gene_names_refseq": "CBX4; NBP16; PC2", "protein_names_uniprotkb": "E3 SUMO-protein ligase CBX4; 2.3.2.-; Chromobox protein homolog 4; Pc2; Polycomb 2 homolog; hPc2", "protein_names_refseq": "E3 SUMO-protein ligase CBX4; NS5ATP1-binding protein 16; Pc class 2 homolog; chromobox homolog 4 (Pc class homolog, Drosophila); chromobox protein homolog 4; chromobox-like protein 4; polycomb 2 homolog", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:8535); (R-HSA-2559580); (R-HSA-3108214); (R-HSA-3899300); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4655427); (R-HSA-8939243); (R-HSA-8943724); (R-HSA-9976102)", "pathway_count": 10, "publication_count": 285, "publication_id_list": "10347217;10574707;10722742;10772813;10871633;11237011;11378386;11477070;11545734;11564866;11735126;11781575;11792325;11842083;11889051;11959846;11960997;12032081;12101246;12134156;12150977;12167701;12189133;12193592;12196509;12421820;12435631;12529333;12679040;12718889;12808055;13130464;14507994;14532106;14578449;14701874;15082759;15161980;15175327;15199155;15287722;15355988;15563468;15592428;15608651;15766567;15823533;15829507;15866172;15940266;15958389;15959518;15976810;16030353;16061479;16098147;16186825;16337592;16418168;16436515;16478998;16608850;16626738;16676006;16688858;16702404;16757475;16810316;16826196;16917507;17018294;17079232;17081983;17081986;17210787;17254968;17255097;17298944;17332741;17344414;17369852;17395714;17535915;17693435;17765224;17803295;17825402;17873065;17875933;17942393;17974977;18082607;18172008;18211901;18339323;18365017;18391013;18408014;18487508;18488044;18625722;18628979;18669648;18691969;18695000;18708356;18762900;18793328;18927235;19007248;19240082;19266028;19287951;19413330;19440552;19450230;19451217;19451218;19462008;19528227;19596686;19608861;19615980;19622798;19636380;19691289;19706679;19779455;19884659;19956565;19995069;20016594;20016603;20068231;20098713;20176810;20190268;20233713;20351170;20417598;20506188;20516213;20676127;20705237;20797632;20797634;21098080;21147198;21282530;21284855;21289308;21338522;21527249;21550342;21647297;21986495;22020331;22128185;22325351;22325352;22336108;22402492;22467880;22493095;22508508;22635276;22661230;22683641;22713328;22751501;22825850;23092970;23186163;23287862;23404503;23673342;23750026;23871147;24027577;24068740;24275569;24369422;24397554;24715725;24718924;24782567;25114211;25218447;25391492;25576301;25704882;25728608;25755297;25772364;25800734;26375851;26758079;26910647;26992070;27068747;27211601;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28834231;28839133;28842558;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29786170;30410026;30429286;31844290;31848261;32111827;32157095;32265295;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33392160;33592498;33633747;33691108;33912179;33968037;33981976;34087483;34171305;34509645;35051231;35318648;35580925;36010968;36215666;36215729;36284347;38538251;38665916;38816356;39098997;40307207;7535770;7588633;7816143;7859739;8001816;8078588;8259215;8319905;8622669;8622688;8626550;8741839;8774846;8846784;8974401;9030721;9162092;9195981;9199346;9315667;9412458;9452416;9529249;9564042;9628874;9756909;9768359;9824166;9885291", "class_list": "", "function": "CBX4 plays a bidirectional role in transcriptional regulation and lung adenocarcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; CBX4/miR-190 regulatory loop inhibits lung cancer metastasis., [RefSeq, PubMed]; E3 SUMO-protein ligase that catalyzes sumoylation of target proteins by promoting the transfer of SUMO from the E2 enzyme to the substrate (PubMed:12679040, PubMed:22467880, PubMed:22825850). Also acts as a histone reader, which specifically recognizes and binds histone H3 trimethylated at 'Lys-9' and 'Lys-27' (H3K9me3 and H3K27me3, respectively) via its chromo domain (By similarity). Catalyzes sumoylation of HNRNPK, a p53/TP53 transcriptional coactivator, hence indirectly regulates p53/TP53 transcriptional activation resulting in p21/CDKN1A expression (PubMed:22825850). Acts as a regulator of brown adipocyte differentiation by mediating sumoylation of PRDM16, thereby preventing PRDM16 ubiquitination and degradation (By similarity). Monosumoylates ZNF131 (PubMed:22467880). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development (PubMed:12167701, PubMed:19636380, PubMed:21282530). PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:12167701, PubMed:19636380, PubMed:21282530). Plays a role in the lineage differentiation of the germ layers in embryonic development (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; METTL3 Promotes Osteosarcoma Metastasis via an m6A-dependent Epigenetic Activity of CBX4., [RefSeq, PubMed]; MicroRNA-6838-5p suppresses the self-renewal and metastasis of human liver cancer stem cells through downregulating CBX4 expression and inactivating ERK 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": 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": 15, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 15, "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": "B1PJR7;Q6TPI8;Q96C04", "ec_number_list": "2.3.2.-;1.14.11.68;3.5.1.-;3.5.1.98;1.14.11.-;1.14.11.65;1.14.99.66;2.7.11.1;2.1.1.367;2.1.1.-;2.1.1.364;2.3.2.27;2.3.1.48;2.3.1.-;3.6.4.-;1.1.1.-;2.7.11.24;2.1.1.356;2.3.1.57;3.5.1.48;3.5.1.62;2.1.1.37", "go_molecular_function": "GO:0061665 SUMO ligase activity;GO:0003682 chromatin binding;GO:0019899 enzyme binding;GO:0003714 transcription corepressor activity;GO:0051219 phosphoprotein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0016604 nuclear body;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0016925 protein sumoylation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 28.9, "record_id": "O00257-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43741-1", "uniprot_id": "AAKB2_HUMAN", "mass": 30302.0, "length": 272, "protein_name": "5'-AMP-activated protein kinase subunit beta-2", "gene_name": "PRKAB2", "organism": "Human", "refseq_name": "5'-AMP-activated protein kinase subunit beta-2", "refseq_ac": "NP_005390", "gene_names_uniprotkb": "PRKAB2", "gene_names_refseq": "PRKAB2", "protein_names_uniprotkb": "5'-AMP-activated protein kinase subunit beta-2; AMPK subunit beta-2", "protein_names_refseq": "5'-AMP-activated protein kinase subunit beta-2; 5'-AMP-activated protein kinase, beta-2 subunit; AMP-activated protein kinase beta 2 non-catalytic subunit; AMPK beta 2; AMPK beta-2 chain; AMPK subunit beta-2; protein kinase, AMP-activated, beta 2 non-catalytic subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:5565); (R-HSA-1445148); (R-HSA-1632852); (R-HSA-163680); (R-HSA-200425); (R-HSA-2151209); (R-HSA-380972); (R-HSA-5628897); (R-HSA-6804756); (R-HSA-9613354); (R-HSA-9619483); (R-HSA-9931269)", "pathway_count": 12, "publication_count": 238, "publication_id_list": "10329961;10435622;10500146;10559218;10570149;10601328;10604467;10673500;10673501;10677481;10698692;10710310;10716435;10745013;10884347;10980602;11018120;11029283;11034341;11096062;11239457;11340051;11356169;11447225;11481440;11486029;11511362;11545734;11546806;11551930;11740489;11780126;11790793;11825910;11959846;12064478;12161445;12203114;12393879;12438239;12453409;12490143;12702766;12714747;12802337;12805220;12851404;12869586;12878598;12906785;12914926;13298683;13538944;14511394;14517221;14517248;14614828;14651849;14702041;14711372;14985505;15053879;15060529;15105503;15187094;15223;15579580;15589136;15591024;15866171;15919790;15971998;16140933;16322561;16413492;16636147;16728594;16760263;16839880;16880201;16943194;16963840;17099248;17108107;17223360;17298220;17307971;17349958;17369524;17486094;17540029;17591690;17618624;17712357;17851531;17995453;18198340;18318008;18321988;18344994;18439900;18452278;18490454;18556348;18669648;18691976;18692468;19013499;19112161;19113821;19121998;19211835;19252894;19322194;19369195;19413330;19415658;19439913;19487573;19590496;19651622;19690332;19822145;19855179;19898463;19965871;20059746;20068231;20080666;20166139;20182617;20230923;20233797;20351271;20378837;20457939;20538056;20631154;20701589;20713597;20837646;20921139;20937701;20959462;21177865;21205641;21258367;21317932;21383122;21399626;21406692;21451146;21454505;21454690;21460621;21460634;21750704;21819378;21907143;21958598;22123817;22170151;22363791;22682742;22871568;23000554;23186163;23202584;23485397;23676219;23685627;23727157;23775793;23884233;24066844;24145406;24275569;24277613;24366874;24383451;24718924;24747438;24874608;24954904;25484072;2550440;25568151;25576301;25579166;25961502;26578976;26652033;26828774;26831516;26902588;26992070;29242379;29557506;30118680;31154438;31844290;31848261;32157095;32357974;32387766;32488085;33298915;33592498;33691108;33968037;33981976;34087483;34171305;35051231;35580925;36010968;38204237;5666113;7628435;7711730;7979252;7989588;8094051;8119488;8549768;8664345;8779952;9048718;9099716;9344464;9374491;9399886;9575201;9685390;9691089;9706223;9925639;9926927", "class_list": "", "function": "MiR-29b Alleviates High Glucose-induced Inflammation and Apoptosis in Podocytes by Down-regulating PRKAB2., [RefSeq, PubMed]; Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Beta non-catalytic subunit acts as a scaffold on which the AMPK complex assembles, via its C-terminus that bridges alpha (PRKAA1 or PRKAA2) and gamma subunits (PRKAG1, PRKAG2 or PRKAG3)., [UniProtKB]; The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. 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": 14, "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": "A8K9V5;B4DH06;Q5VXY0", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0006633 fatty acid biosynthetic process;GO:0031669 cellular response to nutrient levels;GO:0120162 positive regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 23.9, "record_id": "O43741-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94911-3", "uniprot_id": "ABCA8_HUMAN", "mass": 183677.0, "length": 1621, "protein_name": "ABC-type organic anion transporter ABCA8", "gene_name": "ABCA8", "organism": "Human", "refseq_name": "ABC-type organic anion transporter ABCA8 isoform 1", "refseq_ac": "NP_001275914", "gene_names_uniprotkb": "ABCA8; KIAA0822", "gene_names_refseq": "ABCA8", "protein_names_uniprotkb": "ABC-type organic anion transporter ABCA8; 7.6.2.-; ATP-binding cassette sub-family A member 8", "protein_names_refseq": "ABC-type organic anion transporter ABCA8 isoform 1; ABC-type organic anion transporter ABCA8; ATP-binding cassette, sub-family A (ABC1), member 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:10351); (R-HSA-382556)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10.1101/2023.09.13.557529;10484077;10665657;10748049;11504826;11562789;11812794;12111378;12379217;12379510;12403779;12604685;1352877;1356264;1359686;1377674;14661924;15175422;15472518;15863492;15899824;16816140;16901789;17523162;17855752;17894550;17977821;18282684;18434309;19002207;19159218;19447222;19570978;1968359;19862647;1998343;20583968;20621639;22178883;23063411;23560799;24019521;24685677;2475911;25133187;2570070;26208431;27862975;28132103;28882873;2898143;29300488;29786170;29789417;32157095;32387766;32430024;32685482;32981041;34509645;3457471;3472246;35051231;35191604;35580925;37074911;37938771;37968146;7523390;7529176;7553863;7553864;7865904;9652413;9816258;9831708", "class_list": "", "function": "ABCA8 inhibits breast cancer cell proliferation by regulating the AMP activated protein kinase/mammalian target of rapamycin signaling pathway., [RefSeq, PubMed]; ABCA8 is regulated by miR-374b-5p and inhibits proliferation and metastasis of hepatocellular carcinoma through the ERK/ZEB1 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes ATP-dependent efflux of cholesterol and taurocholate (PubMed:29300488). Interaction with ABCA1 potentiates cholesterol efflux to lipid-free APOA1, which regulates high-density lipoprotein cholesterol levels (PubMed:28882873)., [UniProtKB, PubMed, PubMed]; Catalyzes ATP-dependent import of organic anions such as taurocholate and estrone sulfate (PubMed:12379217). In vitro, also imports ochratoxin A (PubMed:12379217). Also mediates cholesterol efflux independent of apolipoprotein, and plays a role in sphingomyelin production in oligodendrocytes (PubMed:23560799)., [UniProtKB, PubMed, PubMed]; Functional analysis of the transport properties of ABCA8., [RefSeq, PubMed]; Prognostic Value and Immune Infiltrates of ABCA8 and FABP4 in Stomach Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Study results suggest that mABCA8b/ABCA8 functions as a sinusoidal efflux transporter for at least cholesterol and taurocholate in mouse and human liver., [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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]; Tumour suppressor ABCA8 inhibits malignant progression of colorectal cancer via Wnt/beta-catenin pathway., [RefSeq, PubMed]", "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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 64, "reported_interactions": 0, "missing_score": 9409, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "A1L3U3;C9JQE6;Q86WW0", "ec_number_list": "7.6.2.2;7.6.2.-;7.6.2.3;7.6.2.1", "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0008559 ABC-type xenobiotic transporter activity;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0006686 sphingomyelin biosynthetic process;GO:0006869 lipid transport;GO:0010875 positive regulation of cholesterol efflux;GO:0055085 transmembrane transport;GO:0033344 cholesterol efflux", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "O94911-3", "record_type": "protein" }, { "uniprot_canonical_ac": "P28566-1", "uniprot_id": "5HT1E_HUMAN", "mass": 41682.0, "length": 365, "protein_name": "5-hydroxytryptamine receptor 1E", "gene_name": "HTR1E", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 1E", "refseq_ac": "NP_000856", "gene_names_uniprotkb": "HTR1E", "gene_names_refseq": "5-HT1E; HTR1E", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 1E; 5-HT-1E; 5-HT1E; S31; Serotonin receptor 1E", "protein_names_refseq": "5-HT-1E; 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled; 5-hydroxytryptamine receptor 1E; S31; serotonin receptor 1E", "tax_id": 9606, "disease": "generalized anxiety disorder (Disease Ontology:DOID:14320)", "pathway": " (hsa:3354); (R-HSA-390666); (R-HSA-418594)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "10193663;10391209;10611634;10715164;11007482;11454652;11512051;11714892;11750183;12120503;12145108;12177684;12388666;12527336;12784105;12860470;1315531;1330647;1386736;14744596;15014171;1513320;15341484;15357957;15628665;1565658;15689356;15887956;15951850;1608964;16330560;16634148;16923326;1733778;18434541;18476671;18577758;19499624;20518729;20945968;21422162;21486038;2534964;2748346;28228285;2834384;3041384;32350084;33762731;34093864;34966948;35251023;35610220;7895773;7937899;8015379;8078486;8143856;8380639;8406495;8522988;8809227;8935801;9048968;9067310;9205951;9303561;9336327;9349523;9495870;9550290;9603189;9651336;9732398;9760039;9851589;9865521;9986723", "class_list": "", "function": "G protein-coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:14744596, PubMed:1513320, PubMed:1608964, PubMed:1733778, PubMed:21422162, PubMed:33762731). Also functions as a receptor for various alkaloids and psychoactive substances (PubMed:14744596, PubMed:1513320, PubMed:1608964, PubMed:1733778, PubMed:21422162, PubMed:33762731). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase (PubMed:14744596, PubMed:1513320, PubMed:1608964, PubMed:1733778, PubMed:21422162, PubMed:33762731). HTR1E is coupled to G(i)/G(o) G alpha proteins and mediates inhibitory neurotransmission by inhibiting adenylate cyclase activity (PubMed:33762731, PubMed:35610220)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Novel interaction between neurotrophic factor-alpha1/carboxypeptidase E and serotonin receptor, 5-HTR1E, protects human neurons against oxidative/neuroexcitotoxic stress via beta-arrestin/ERK signaling. Erratum:[Cell Mol Life Sci. 2023 Feb 20;80(3):65. doi: 10.1007/s00018-023-04711-0. PMID: 36808009] Publication Status: Online-Only, [RefSeq, PubMed]; Serotonin/HTR1E signaling blocks chronic stress-promoted progression of ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "E1P503;Q9P1Y1", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004993 G protein-coupled serotonin receptor activity;GO:0030594 neurotransmitter receptor activity;GO:0051378 serotonin binding;GO:0001586 Gi/o-coupled serotonin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission;GO:0007198 adenylate cyclase-inhibiting serotonin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "P28566-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P29275-1", "uniprot_id": "AA2BR_HUMAN", "mass": 36333.0, "length": 332, "protein_name": "Adenosine receptor A2b", "gene_name": "ADORA2B", "organism": "Human", "refseq_name": "adenosine receptor A2b", "refseq_ac": "NP_000667", "gene_names_uniprotkb": "ADORA2B", "gene_names_refseq": "ADORA2B; ADORA2", "protein_names_uniprotkb": "Adenosine receptor A2b", "protein_names_refseq": "adenosine receptor A2b", "tax_id": 9606, "disease": "", "pathway": " (hsa:136); (R-HSA-417973); (R-HSA-418555); (R-HSA-5683826); (R-HSA-9660821)", "pathway_count": 5, "publication_count": 126, "publication_id_list": "10029519;10368295;10485905;10496952;10580105;10625644;11007482;11278984;11563989;12036966;12058044;12106601;12180353;12185598;12860470;12882447;1325798;1339284;13549488;1415726;14671004;1517224;1530647;1568474;15765929;15769620;15926889;15951850;16006481;16199866;16313925;1636732;16423266;16630564;16687412;16923326;17168849;17496061;18020944;18044684;18577758;18692472;1898081;19100526;19105585;19144824;1928448;19824815;19876791;19929708;20054143;20147294;20338813;20381629;20418254;21036126;2163110;23069847;23590306;23684610;23922714;2417744;24273487;24687066;24715725;24743970;2491850;2515193;25424900;2553411;2553705;25576301;2587265;2610270;26417854;27846572;2871555;29393594;29443750;29602314;2995821;3037072;30429286;30833991;3127824;31279028;31399091;31848261;31983287;32161166;32226383;32497535;32540603;32618402;32715661;32938616;33049737;3366248;33968037;34171305;34631;35562985;35580925;36241641;36720042;37187740;3755136;37926527;3801783;6085243;7558011;7597036;8007951;8234299;8314870;8340388;8428971;8514797;8522976;8527267;8636114;8672451;9263355;9417641;9651336;9813380", "class_list": "", "function": "Adenosine Receptor A2B Negatively Regulates Cell Migration in Ovarian Carcinoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; CD73-Dependent Adenosine Signaling through Adora2b Drives Immunosuppression in Ductal Pancreatic Cancer., [RefSeq, PubMed]; Involvement of Cannabinoid Receptors and Adenosine A2B Receptor in Enhanced Migration of Lung Cancer A549 Cells Induced by gamma-Ray Irradiation., [RefSeq, PubMed]; Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase., [UniProtKB]; The resurgence of the Adora2b receptor as an immunotherapeutic target in pancreatic cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [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": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0001609 G protein-coupled adenosine receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0098793 presynapse;GO:0098685 Schaffer collateral - CA1 synapse", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007190 activation of adenylate cyclase activity;GO:0042311 vasodilation;GO:0099171 presynaptic modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "P29275-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P29372-1", "uniprot_id": "3MG_HUMAN", "mass": 32869.0, "length": 298, "protein_name": "DNA-3-methyladenine glycosylase", "gene_name": "MPG", "organism": "Human", "refseq_name": "DNA-3-methyladenine glycosylase isoform b", "refseq_ac": "NP_001015052", "gene_names_uniprotkb": "MPG; AAG; ANPG; MID1", "gene_names_refseq": "AAG; ADPG; APNG; CRA36.1; MDG; MPG; PIG11; PIG16; anpg", "protein_names_uniprotkb": "DNA-3-methyladenine glycosylase; 3-alkyladenine DNA glycosylase; 3-methyladenine DNA glycosidase; 3.2.2.21; ADPG; N-methylpurine-DNA glycosylase", "protein_names_refseq": "3' end of the Mid1 gene, localized 68 kb upstream the humanzeta globin gene on 16p; 3-alkyladenine DNA glycosylase; 3-methyladenine DNA glycosidase; CRA36.1 (3-methyl-adenine DNA glycosylase); DNA-3-methyladenine glycosylase isoform b; N-methylpurine-DNA glycosylase, MPG; proliferation-inducing protein 11; proliferation-inducing protein 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:4350); (R-HSA-110330); (R-HSA-110331); (R-HSA-110357)", "pathway_count": 4, "publication_count": 81, "publication_id_list": "10.1101/2023.09.13.557529;10706276;11139613;11160897;11237011;11889051;12519758;14555760;15302935;15479784;15713479;15823533;1645538;17537817;18669648;1874728;18805789;1924375;20068231;22569481;23186163;23290262;23755964;24715725;25086253;25418920;25892735;26154972;26992070;27862975;28228285;28510447;28649982;28747435;28832583;28834231;28854357;28904123;29242379;29393594;29557506;29632711;29769354;29786170;29789417;30315122;31844290;31848261;31882538;32157095;32265295;32387766;32938616;33214551;33298915;33717175;33809907;33936100;33968037;34019948;35051231;35132862;35289036;38332576;39894887;40596516;7479006;8016081;8110764;8284199;8318735;8475094;9187114;9200707;9207108;9223305;9223306;9321410;9430628;9724657;9790531", "class_list": "", "function": "Hydrolysis of the deoxyribose N-glycosidic bond to excise 3-methyladenine, and 7-methylguanine from the damaged DNA polymer formed by alkylation lesions., [UniProtKB, UniProtKB, UniProtKB]; Pilot Study to Detect Genes Involved in DNA Damage and Cancer in Humans: Potential Biomarkers of Exposure to E-Cigarette Aerosols. Publication Status: Online-Only, [RefSeq, PubMed]; Recognition of 1,N (2)-ethenoguanine by alkyladenine DNA glycosylase is restricted by a conserved active-site residue., [RefSeq, PubMed]; The human alkyl-N-purine-DNA glycosylase (ANPG or MPG) excises with high efficiency hypoxanthine residues, deamination product of adenine, when present in DNA. ANPG is by far the most efficient hypoxanthine-DNA glycosylase of all the enzymes tested., [RefSeq, PubMed]; Transformed astrocytes confer temozolomide resistance on glioblastoma via delivering ALKBH7 to enhance APNG expression after educating by glioblastoma stem cells-derived exosomes., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "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": 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": 6, "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": 3, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "G5E9E2;Q13770;Q15275;Q15961;Q5J9I4;Q96BZ6;Q96S33;Q9NNX5", "ec_number_list": "3.1.11.2;3.1.21.-;3.2.2.21", "go_molecular_function": "GO:0003677 DNA binding;GO:0003684 damaged DNA binding;GO:0003905 alkylbase DNA N-glycosylase activity;GO:0019104 DNA N-glycosylase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0042645 mitochondrial nucleoid", "go_biological_process": "GO:0006284 base-excision repair;GO:0006307 DNA alkylation repair;GO:0045007 depurination", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "P29372-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30542-1", "uniprot_id": "AA1R_HUMAN", "mass": 36512.0, "length": 326, "protein_name": "Adenosine receptor A1", "gene_name": "ADORA1", "organism": "Human", "refseq_name": "adenosine receptor A1 isoform 1", "refseq_ac": "NP_000665", "gene_names_uniprotkb": "ADORA1", "gene_names_refseq": "ADORA1; RDC7", "protein_names_uniprotkb": "Adenosine receptor A1", "protein_names_refseq": "adenosine receptor A1 isoform 1", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); left ventricular failure (Disease Ontology:DOID:0051064); hypertension (Disease Ontology:DOID:10763); asthma (Disease Ontology:DOID:2841); cerebral infarction (Disease Ontology:DOID:3526); lung disease (Disease Ontology:DOID:850); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:134); (R-HSA-417973); (R-HSA-418594)", "pathway_count": 3, "publication_count": 28, "publication_id_list": "10029519;11007482;12120503;1339301;1530647;15951850;16634148;16923326;16959974;18434541;18577758;2534964;27134041;2748346;2834384;29557506;29741879;29925945;32938616;35046410;36279718;36637988;38508143;7937899;8015379;8234299;8300646;8406495", "class_list": "", "function": "Activation of hepatic adenosine A1 receptor ameliorates MASH via inhibiting SREBPs maturation. Erratum:[Cell Rep Med. 2024 May 21;5(5):101563. doi: 10.1016/j.xcrm.2024.101563. PMID: 38718795], [RefSeq, PubMed]; Comparative Study of Receptor-, Receptor State-, and Membrane-Dependent Cholesterol Binding Sites in A2A and A1 Adenosine Receptors Using Coarse-Grained Molecular Dynamics Simulations., [RefSeq, PubMed]; Crystal structure of the alpha1B-adrenergic receptor reveals molecular determinants of selective ligand recognition. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for adenosine (PubMed:29925945). The activity of this receptor is mediated by G proteins such as GNAI2 which inhibit adenylyl cyclase., [UniProtKB, PubMed]; The ADORA1 mutation linked to early-onset Parkinson's disease alters adenosine A1-A2A receptor heteromer formation and function., [RefSeq, PubMed]; The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 13, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 6, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NFY5;A6NGP4;A8K1L3;B3KXQ4;D2CGD0;Q6FHK3;Q8TAM8", "ec_number_list": "", "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0001609 G protein-coupled adenosine receptor activity;GO:0001664 G protein-coupled receptor binding;GO:0001883 purine nucleoside binding;GO:0031072 heat shock protein binding", "go_cellular_component": "GO:0044305 calyx of Held;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0030425 dendrite;GO:0032279 asymmetric synapse", "go_biological_process": "GO:0035589 G protein-coupled purinergic nucleotide receptor signaling pathway;GO:0001659 temperature homeostasis;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P30542-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P31941-1", "uniprot_id": "ABC3A_HUMAN", "mass": 23012.0, "length": 199, "protein_name": "DNA dC->dU-editing enzyme APOBEC-3A", "gene_name": "APOBEC3A", "organism": "Human", "refseq_name": "probable DNA dC->dU-editing enzyme APOBEC-3A", "refseq_ac": "NP_001180218", "gene_names_uniprotkb": "APOBEC3A", "gene_names_refseq": "A3A; APOBEC3A_B; APOBEC3A", "protein_names_uniprotkb": "DNA dC->dU-editing enzyme APOBEC-3A; 3.5.4.38; A3A; Phorbolin-1", "protein_names_refseq": "DNA dC->dU-editing enzyme APOBEC-3A; Phorbolin-1; probable DNA dC->dU-editing enzyme APOBEC-3A", "tax_id": 9606, "disease": "", "pathway": " (hsa:100913187); (hsa:200315); (R-HSA-72200); (R-HSA-75094)", "pathway_count": 4, "publication_count": 34, "publication_id_list": "10469298;11718896;11863358;12683974;12859895;1286667;15659357;16527742;18304004;19461882;20062055;20308164;20615867;21123384;21368204;21460793;21496894;21835787;22001110;22457529;22896697;22912627;22915799;22977230;27846572;28904123;29140415;31844290;32357974;32387766;32983136;35051231;41337590;8208612", "class_list": "", "function": "DNA deaminase (cytidine deaminase) with restriction activity against viruses, foreign DNA and mobility of retrotransposons. Exhibits antiviral activity against adeno-associated virus (AAV) and human T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons. Selectively targets single-stranded DNA and can deaminate both methylcytosine and cytosine in foreign DNA. Can induce somatic hypermutation in the nuclear and mitochondrial DNA. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The APOBEC3A/B deletion polymorphism was not associated with risk of breast, lung, colon or prostate cancer in this Norwegian cohort, [RefSeq, PubMed]; This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. The protein encoded by this gene is the same as that encoded by APOBEC3A; however, this gene is a hybrid gene that results from the deletion of approximately 29.5 kb of sequence between the APOBEC3A gene and the adjacent gene APOBEC3B. The breakpoints of the deletion are within the two genes, so the deletion hybrid is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 15, "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": "A0AVM1;Q12807;Q5JZ93;Q9UH18", "ec_number_list": "3.5.4.38;3.5.4.-;3.5.4.36", "go_molecular_function": "GO:0003723 RNA binding;GO:0004126 cytidine deaminase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000932 P-body", "go_biological_process": "GO:0044029 positive regulation of gene expression via chromosomal CpG island demethylation;GO:0016554 cytidine to uridine editing;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0070383 DNA cytosine deamination", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "P31941-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P31946-1", "uniprot_id": "1433B_HUMAN", "mass": 28082.0, "length": 246, "protein_name": "14-3-3 protein beta/alpha", "gene_name": "YWHAB", "organism": "Human", "refseq_name": "14-3-3 protein beta/alpha", "refseq_ac": "NP_003395", "gene_names_uniprotkb": "YWHAB", "gene_names_refseq": "GW128; HEL-S-1; HS1; KCIP-1; YWHAA; YWHAB", "protein_names_uniprotkb": "14-3-3 protein beta/alpha; KCIP-1; Protein 1054; Protein kinase C inhibitor protein 1", "protein_names_refseq": "14-3-3 alpha; 14-3-3 protein beta/alpha; epididymis secretory protein Li 1; protein 1054; protein kinase C inhibitor protein-1; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059); brain ischemia (Disease Ontology:DOID:2316)", "pathway": " (hsa:7529); (R-HSA-111447); (R-HSA-1445148); (R-HSA-165159); (R-HSA-170968); (R-HSA-170984); (R-HSA-2028269); (R-HSA-392517); (R-HSA-450385); (R-HSA-450513); (R-HSA-5625740); (R-HSA-5628897); (R-HSA-5673000); (R-HSA-5674135); (R-HSA-5675221); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-75035); (R-HSA-9614399); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9726840); (R-HSA-9726842); (R-HSA-9735871); (R-HSA-9755779); (R-HSA-9856649)", "pathway_count": 28, "publication_count": 547, "publication_id_list": "10102273;10195903;10205168;10206983;10209122;10329961;10330172;10330186;10358075;10409742;10415025;10435585;10490027;10567402;10611221;10619026;10620507;10629055;10655586;10673502;10702794;10712905;10716435;10725339;10745013;10753910;10757792;10891492;10924361;10949026;10980602;11027551;11029283;11032810;11034341;11118213;11134534;11237011;11237865;11260479;11278283;11278445;11313932;11325826;11331307;11340051;11427721;11466412;11486029;11494123;11545734;11555644;11697890;11719186;11741534;11756411;11802164;11802165;11840323;11891324;11912130;11930005;11942626;11959846;12040181;12068308;12151408;12161445;12198173;12203114;12244094;12324455;12438239;12453409;12473660;12479806;12524439;12551923;12583813;12639954;12646273;12657644;12665801;12676795;12705825;12714747;12748283;12766774;12783890;12832465;12869586;12906785;12932319;12932339;13298683;13538944;14514689;14530258;14636584;14651849;14654843;14688255;14701673;14724641;14970219;14975237;14976220;15003508;15014438;15035987;15105503;15109305;15117938;15118077;15118098;15159416;15184667;15223;15226305;15239952;15258589;15260967;15454081;15467451;15507434;15520807;15538381;15543157;15547943;15589136;15630448;15632203;15660102;15664191;15687258;15688006;15696159;15710605;15711535;15755954;15791647;15851477;15882968;15899852;15919790;15944294;15971998;16014379;16024783;16034366;16041367;16093354;16103198;16114898;16135787;16140933;16262601;16272144;16284401;16294014;16364920;16413492;16508002;16537381;16630891;16636147;16702958;16728594;16760263;16822840;16839880;16879721;16880201;16892053;16930133;16939974;16959763;1698554;16998888;17018604;17030608;17081065;17085597;17097642;17133347;17145850;17178906;17244620;17277771;17298220;17301291;17306213;17369404;17369524;17386266;1748288;17486094;17496912;17510057;17517883;17540029;17563371;17603482;17603483;17623675;17717073;17724343;17947532;17974916;17995453;18006505;18039662;18055455;18158288;18198340;18227151;18249187;18287029;18294816;18326031;18328708;18332145;18344994;18367721;18372248;1846040;18481987;18497260;18510355;18515281;18547165;18559533;18562239;18644867;18662992;18692468;18974108;19013499;19049963;19091303;19091743;19113821;19158341;19172738;19219045;19242111;19252894;19279408;19413330;19416966;19439913;19467855;19487573;19524539;19541618;19592491;19608861;19640509;19684605;19723632;19727074;19729507;19822145;19933846;20052757;20058876;20080666;20130576;20141835;20154085;20179705;20182617;20332238;20351271;20378837;20381137;20412773;20460180;20478047;20526349;20631154;20674547;20701589;20818844;20820846;20837646;20850437;20858867;20868367;20937701;21107323;21187284;21205866;21224381;21224387;21233212;21248752;21351730;21424530;21441104;21441910;21454505;21454690;21486943;21514245;21555462;21639808;21749319;21750704;21779496;21784453;21832154;21907143;21958598;21965087;21993244;22043453;22065583;22113612;22177953;22292133;22356324;22363791;22395615;22510884;22569528;22589270;22592532;22647378;22730326;22745804;22826437;22827337;22980980;23105109;23159739;23171796;23186163;23190890;23207919;23288408;23352452;23360980;23453624;23572552;23583981;23614898;23667175;23680146;23775793;23863182;23875798;23906342;23934108;23938468;23993095;24066844;24121058;24121489;24128008;24135138;24202393;24211266;24275569;24345920;24347342;24366874;24383451;24636949;24651010;24718924;24746704;24937142;24957944;25137548;25195011;25204415;25248477;25271362;25313996;25314968;25435214;25468936;25489052;25502872;2550440;25561175;25567906;25576301;25579166;25588844;25595898;25597358;25907612;25961827;25963655;25965804;26047703;26214590;26343583;26652033;26811146;27030597;27128622;27227380;27264673;27466182;27503831;27600516;27846572;27862975;27920218;27999210;28076410;28082416;28218747;28289718;28394346;28467828;28514659;28666118;28832583;28939558;28984291;29236692;29242379;29295999;29393594;29461827;29467321;29493099;29508533;29557506;30034615;30348783;30379171;30429286;30794926;30804224;31020640;31059601;31108500;31217245;31844290;32157095;32329246;32350084;32357974;32387766;32488085;32636443;32870666;3287375;32938616;32983136;33091337;33147444;33214551;33537682;33556408;33592498;33717175;33744299;33912179;33936100;33968037;34019948;34078123;34140478;34357683;34433824;34513728;34725712;34932366;35051231;35058442;35126886;35138101;35154160;35251023;35318648;35580925;36241641;36284347;37217939;37770430;37938771;38431920;38665916;40914422;5338216;5666113;7542586;7565670;7565795;7584149;7731720;7744815;7806500;7890696;7929275;7935411;7958932;7979252;7989588;8051079;8094051;8119488;8157000;8253074;8336698;8387505;8515476;8521512;8521513;8521514;8637718;8662509;8664345;8702870;8876196;8946910;9020159;9115221;9182757;9199364;9234708;9278512;9346962;9353119;9354661;9440696;9545236;9560161;9560246;9676189;9689060;9705322;9733512;9760192;9789079;9823899;9858547;9889122;9926927;9973413;9988689", "class_list": "", "function": "Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negative regulator of osteogenesis. Blocks the nuclear translocation of the phosphorylated form (by AKT1) of SRPK2 and antagonizes its stimulatory effect on cyclin D1 expression resulting in blockage of neuronal apoptosis elicited by SRPK2. Negative regulator of signaling cascades that mediate activation of MAP kinases via AKAP13., [UniProtKB, PubMed, PubMed, PubMed]; MiR-375-3p targets YWHAB to attenuate intestine injury in neonatal necrotizing enterocolitis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K9K2;E1P616", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0042826 histone deacetylase binding;GO:0050815 phosphoserine residue binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045744 negative regulation of G protein-coupled receptor signaling pathway;GO:0045892 negative regulation of DNA-templated transcription;GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 55.0, "record_id": "P31946-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49902-1", "uniprot_id": "5NTC_HUMAN", "mass": 64970.0, "length": 561, "protein_name": "Cytosolic purine 5'-nucleotidase", "gene_name": "NT5C2", "organism": "Human", "refseq_name": "cytosolic purine 5'-nucleotidase isoform 1", "refseq_ac": "NP_001127845", "gene_names_uniprotkb": "NT5C2; NT5B; NT5CP; PNT5", "gene_names_refseq": "GMP; NT5B; NT5C2; PNT5; SPG45; SPG65; cN-II", "protein_names_uniprotkb": "Cytosolic purine 5'-nucleotidase; 2.7.1.77; 3.1.3.5; 3.1.3.99; Cytosolic 5'-nucleotidase II; Cytosolic IMP/GMP-specific 5'-nucleotidase; Cytosolic nucleoside phosphotransferase 5'N; High Km 5'-nucleotidase; cN-II", "protein_names_refseq": "5'-nucleotidase (purine), cytosolic type B; IMP-specific 5'-NT; cytosolic IMP/GMP-specific 5'-nucleotidase; cytosolic nucleoside phosphotransferase 5'N; cytosolic purine 5'-nucleotidase isoform 1; epididymis secretory sperm binding protein; high Km 5'-nucleotidase; spastic paraplegia 45 (autosomal recessive)", "tax_id": 9606, "disease": "hereditary spastic paraplegia 45 (Disease Ontology:DOID:0110797); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:22978); (R-HSA-2161541); (R-HSA-74259); (R-HSA-9755088)", "pathway_count": 4, "publication_count": 135, "publication_id_list": "10075721;10092873;10364222;10681516;10766785;11083867;11133996;11237011;11278832;11690631;12399160;12499231;12606760;12750059;12907246;12947102;1383219;15861032;15917509;16265592;1637327;16446384;1659319;17234634;17301077;17405878;17412768;18635603;18669648;19164483;19470646;20058876;20068231;20081199;20096989;20173735;20486858;20504255;2104852;2129526;21396942;2157703;2159925;21755941;23186163;23203137;2344353;24107682;24260472;24482476;24957263;25108359;25418920;2549385;25576301;25645385;25892735;26375851;26811146;26992070;2737800;27862975;27920218;280136;28063628;28218747;28228285;2848805;28510447;28514659;28832583;28834231;28884889;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29557506;29580856;29632046;29769354;29789417;30045981;3029074;30315122;3036115;30429286;30716294;31020640;31520644;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32938616;32983136;33592498;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34561969;34932366;35051231;35295960;35318648;35580925;36010968;36215666;36241641;36284347;36540014;36581221;38279611;38665916;39894887;40914422;6771276;7999131;8626464;8670112;9145876;9371705;9605565;9647364", "class_list": "", "function": "Associations between Gene-Gene Interaction and Overweight/Obesity of 12-Month-Old Chinese Infants. Publication Status: Online-Only, [RefSeq, PubMed]; Broad specificity cytosolic 5'-nucleotidase that catalyzes the dephosphorylation of 6-hydroxypurine nucleoside 5'-monophosphates (PubMed:10092873, PubMed:12907246, PubMed:1659319, PubMed:9371705). In addition, possesses a phosphotransferase activity by which it can transfer a phosphate from a donor nucleoside monophosphate to an acceptor nucleoside, preferably inosine, deoxyinosine and guanosine (PubMed:1659319, PubMed:9371705). Has the highest activities for IMP and GMP followed by dIMP, dGMP and XMP (PubMed:10092873, PubMed:12907246, PubMed:1659319, PubMed:9371705). Could also catalyze the transfer of phosphates from pyrimidine monophosphates but with lower efficiency (PubMed:1659319, PubMed:9371705). Through these activities regulates the purine nucleoside/nucleotide pools within the cell (PubMed:10092873, PubMed:12907246, PubMed:1659319, PubMed:9371705)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Data describe the crystal structure of human cytosolic 5'-nucleotidase II and discuss its allosteric regulation and substrate recognition., [RefSeq, PubMed]; Schizophrenia risk proteins ZNF804A and NT5C2 interact in cortical neurons., [RefSeq, PubMed]; Silencing of circ-NT5C2 retards the progression of IL-1beta-induced osteoarthritis in an in vitro cell model by targeting the miR-142-5p/NAMPT axis., [RefSeq, PubMed]; This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 1, "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": "B7Z382;D3DR91;Q5JUV5", "ec_number_list": "3.6.1.-;3.1.4.1;3.6.1.9;3.1.3.5;3.1.3.2;3.1.3.48;3.1.3.91;3.1.3.89;3.1.3.99;3.1.3.35;2.7.1.77;3.1.3.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0008253 5'-nucleotidase activity;GO:0050146 nucleoside phosphotransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0050689 negative regulation of defense response to virus by host;GO:0046054 dGMP metabolic process;GO:0046037 GMP metabolic process;GO:0046040 IMP metabolic process;GO:0046085 adenosine metabolic process", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "P49902-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13639-1", "uniprot_id": "5HT4R_HUMAN", "mass": 43761.0, "length": 388, "protein_name": "5-hydroxytryptamine receptor 4", "gene_name": "HTR4", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 4 isoform b", "refseq_ac": "NP_000861", "gene_names_uniprotkb": "HTR4", "gene_names_refseq": "5-HT4R; 5-HT4; HTR4", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 4; 5-HT-4; 5-HT4; Serotonin receptor 4", "protein_names_refseq": "5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled; 5-hydroxytryptamine receptor 4 isoform b; cardiac 5-HT4 receptor", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); anorexia nervosa (Disease Ontology:DOID:8689)", "pathway": " (hsa:3360); (R-HSA-390666); (R-HSA-418555)", "pathway_count": 3, "publication_count": 117, "publication_id_list": "10193663;10220570;10611634;10646498;10715164;10821780;11007482;11237011;11454652;11512051;11714892;11716477;11750183;11750916;12036966;12058044;12106601;12145108;12177684;12180353;12388666;12527336;12784105;12860470;1315531;1330647;13549488;1386736;14671004;15118808;1513320;1517224;15341484;15357957;15575821;15628665;1565658;15689356;15765929;15769620;15887956;15951850;16102731;16313925;16330560;16687412;16923326;17168849;18044684;18577758;19105585;19499624;19661922;19876791;19929708;20381629;20518729;21036126;21486038;2163110;22197934;2417744;24687066;2491850;2553411;2553705;26417854;26992070;28228285;2871555;29443750;29557506;29602314;3041384;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;32938616;33049737;35714614;6085243;7656980;7895773;8078486;8143856;8340388;8380639;8514797;8522988;8672451;8809227;8935801;9048968;9067310;9205951;9263355;9303561;9336327;9349523;9351641;9417641;9495870;9550290;9603189;9651336;9732398;9760039;9851589;9865521;9986723", "class_list": "", "function": "G protein-coupled receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone and a mitogen (PubMed:10821780, PubMed:16102731, PubMed:35714614, PubMed:9603189). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors (PubMed:16102731, PubMed:35714614). HTR4 is coupled to G(s) G alpha proteins and mediates activation of adenylate cyclase activity (PubMed:16102731, PubMed:35714614)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; G-protein coupled receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone and a mitogen. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors. HTR4 is coupled to G(s) G alpha proteins and mediates activation of adenylate cyclase activity., [UniProtKB, UniProtKB]; Our results suggest a complex regulation of the h5-HT4 receptor gene expression involving distinct promoters and non-coding exons., [RefSeq, PubMed]; This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010]., [RefSeq]; This paper presents an analysis of the SH3TC2 promoter after identifying a read-through transcript of the SH3TC2 and HTR4 loci. Available data suggests HTR4 is a separate locus with its own promoter, and not the product of a bi-cistronic transcript., [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": 11, "reported_glycation": 0, "reported_snv": 17, "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": "C4WYH4;Q546Q1;Q684M0;Q712M9;Q96KH9;Q96KI0;Q9H199;Q9NY73;Q9UBM6;Q9UBT4;Q9UE22;Q9UE23;Q9UQR6", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0004993 G protein-coupled serotonin receptor activity;GO:0030594 neurotransmitter receptor activity;GO:0051378 serotonin binding;GO:0099589 serotonin receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission;GO:0030277 maintenance of gastrointestinal epithelium", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q13639-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q4LEZ3-1", "uniprot_id": "AARD_HUMAN", "mass": 17575.0, "length": 155, "protein_name": "Alanine- and arginine-rich domain-containing protein", "gene_name": "AARD", "organism": "Human", "refseq_name": "alanine- and arginine-rich domain-containing protein", "refseq_ac": "NP_001020528", "gene_names_uniprotkb": "AARD; C8orf85", "gene_names_refseq": "AARD; C8orf85", "protein_names_uniprotkb": "Alanine- and arginine-rich domain-containing protein", "protein_names_refseq": "Alanine and arginine-rich domain-containing protein; alanine- and arginine-rich domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:441376)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "20549515;25576301;28411811;31217245", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A5PKU8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q4LEZ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T5F5-1", "uniprot_id": "A4AS1_HUMAN", "mass": 14090.0, "length": 129, "protein_name": "Uncharacterized protein ADAMTSL4-AS1", "gene_name": "ADAMTSL4-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ADAMTSL4-AS1; C1orf138", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein ADAMTSL4-AS1; ADAMTSL4 antisense RNA 1; ADAMTSL4 antisense gene protein 1", "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": "Q6ZS69", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5T5F5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q70Z44-1", "uniprot_id": "5HT3D_HUMAN", "mass": 50191.0, "length": 454, "protein_name": "5-hydroxytryptamine receptor 3D", "gene_name": "HTR3D", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 3D isoform 1", "refseq_ac": "NP_001138615", "gene_names_uniprotkb": "HTR3D", "gene_names_refseq": "5HT3D; HTR3D", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 3D; 5-HT3-D; 5-HT3D; Serotonin receptor 3D", "protein_names_refseq": "5-hydroxytryptamine (serotonin) receptor 3 family member D; 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic; 5-hydroxytryptamine receptor 3 subunit D; 5-hydroxytryptamine receptor 3D isoform 1; serotonin 5-HT-3D receptor; serotonin receptor 3D", "tax_id": 9606, "disease": "", "pathway": " (hsa:200909); (R-HSA-112314)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "11237011;11485506;12532186;12801637;1387926;16116092;16389408;17392525;17652911;18761359;19794330;19913121;20628086;20844345;21180598;21192076;2155780;22993341;25323946;25333367;25949526;26238288;28218747;28291778;28813580;29763014;29774051;32350084;35051231;7507039;7565620;7691500;8717357;9677400;9950429", "class_list": "", "function": "Data show that 5-HT3C, 5-HT3D, and 5-HT3E subunits are coexpressed with 5-HT3A in cell bodies of myenteric neurons, and that 5-HT3A and 5-HT3D were expressed in submucosal plexus of the human large intestine., [RefSeq, PubMed]; Forms serotonin (5-hydroxytryptamine/5-HT3)-activated cation-selective channel complexes, which when activated cause fast, depolarizing responses in neurons., [UniProtKB, UniProtKB, UniProtKB, 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]; Six functional and coding variants of the subunit genes HTR3A, HTR3B as well as the novel HTR3C, HTR3D, and HTR3E subunits in the response to haloperidol or risperidone, were assessed., [RefSeq, PubMed]; The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]., [RefSeq]; These findings enrich the allelic spectrum of ABCC5 in PACG. We identified no tagging SNP responsible for the association of the whole region. Erratum:[Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4799. doi: 10.1167/iovs.17-22948a. PMID: 28973336], [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": 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": "C9J2I6;J3QT78;Q495N5;Q495N6;Q7Z6B3", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0022850 serotonin-gated monoatomic cation channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0005231 excitatory extracellular ligand-gated monoatomic ion channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0045211 postsynaptic membrane;GO:0043005 neuron projection;GO:1904602 serotonin-activated cation-selective channel complex", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0007268 chemical synaptic transmission;GO:0034220 monoatomic ion transmembrane transport;GO:0007210 serotonin receptor signaling pathway;GO:0140227 serotonin-gated cation-selective signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q70Z44-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TDN7-1", "uniprot_id": "ACER1_HUMAN", "mass": 31095.0, "length": 264, "protein_name": "Alkaline ceramidase 1", "gene_name": "ACER1", "organism": "Human", "refseq_name": "alkaline ceramidase 1", "refseq_ac": "NP_597999", "gene_names_uniprotkb": "ACER1; ASAH3", "gene_names_refseq": "ACER1; ALKCDase1; ASAH3", "protein_names_uniprotkb": "Alkaline ceramidase 1; 3.5.1.-; 3.5.1.23; Acylsphingosine deacylase 3; AlkCDase 1; Alkaline CDase 1; N-acylsphingosine amidohydrolase 3", "protein_names_refseq": "CTB-180A7.3; N-acylsphingosine amidohydrolase (alkaline ceramidase) 3; N-acylsphingosine amidohydrolase 3; acylsphingosine deacylase 3; alkCDase 1; alkaline CDase 1; alkaline ceramidase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:125981); (R-HSA-9845614)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11018465;11356846;11915342;12411432;12783875;12815058;16477081;16782891;16940153;17379599;17382292;17713573;18558101;18619555;20068046;20089856;20207939;20628055;20699116;23721920;25286108;27126290;29229990;30090628;30575723;30635364;9705349", "class_list": "glycogene", "function": "Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010]., [RefSeq]; Endoplasmic reticulum ceramidase that catalyzes the hydrolysis of ceramides into sphingosine and free fatty acids at alkaline pH (PubMed:17713573, PubMed:20207939, PubMed:20628055). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:12783875). Exhibits a strong substrate specificity towards the natural stereoisomer of ceramides with D-erythro-sphingosine as a backbone and has a higher activity towards very long-chain unsaturated fatty acids like the C24:1-ceramide (PubMed:17713573, PubMed:20207939). May also hydrolyze dihydroceramides to produce dihydrosphingosine (PubMed:20207939, PubMed:20628055). ACER1 is a skin-specific ceramidase that regulates the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes and more generally plays an important role in skin homeostasis (PubMed:17713573)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Regulates the signaling system mediated by sphingolipids Review article, [RefSeq, PubMed]; Upregulation of haCER1 and AC mediates the Ca2+(o)-induced growth arrest and differentiation of keratinocytes by generating sphingosine and its phosphate, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 364, "reported_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": "3.5.1.23;3.5.1.60;3.5.1.-;3.5.1.109", "go_molecular_function": "GO:0046872 metal ion binding;GO:0017040 N-acylsphingosine amidohydrolase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0048733 sebaceous gland development;GO:0030149 sphingolipid catabolic process;GO:0030154 cell differentiation;GO:0006665 sphingolipid metabolic process;GO:0008544 epidermis development", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8TDN7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WXA8-1", "uniprot_id": "5HT3C_HUMAN", "mass": 50220.0, "length": 447, "protein_name": "5-hydroxytryptamine receptor 3C", "gene_name": "HTR3C", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 3C precursor", "refseq_ac": "NP_570126", "gene_names_uniprotkb": "HTR3C", "gene_names_refseq": "HTR3C", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 3C; 5-HT3-C; 5-HT3C; Serotonin receptor 3C", "protein_names_refseq": "5-HT3-C; 5-HT3C; 5-hydroxytryptamine (serotonin) receptor 3, family member C; 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic; 5-hydroxytryptamine receptor 3 subunit C; 5-hydroxytryptamine receptor 3C precursor; serotonin receptor 3C", "tax_id": 9606, "disease": "", "pathway": " (hsa:170572); (R-HSA-112314)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "11485506;12532186;12801637;1387926;16116092;16389408;16959974;17392525;17652911;18389280;18761359;20844345;21180598;2155780;22993341;23928294;24477975;25323946;25333367;25949526;26238288;28291778;28813580;29763014;29774051;32488085;35051231;7507039;7565620;7691500;8717357;9677400;9950429", "class_list": "", "function": "Forms serotonin (5-hydroxytryptamine/5-HT3)-activated cation-selective channel complexes, which when activated cause fast, depolarizing responses in neurons., [UniProtKB, PubMed]; Our study indicates, for the first time, an association between variants of HTR3C and severity of chemotherapy-induced symptoms, [RefSeq, PubMed]; Polymorphisms in the HTR3C gene could serve as a predictive factor for chemotherapy-induced nausea and vomiting in patients undergoing moderately emetogenic chemotherapy. GeneRIF: Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; The association findings of the HTR3C and the HTR3E remained significant after correction for the number of variants investigated., [RefSeq, PubMed]; The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit C of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3. [provided by RefSeq, Jul 2008]., [RefSeq]; These findings enrich the allelic spectrum of ABCC5 in PACG. We identified no tagging SNP responsible for the association of the whole region. Erratum:[Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4799. doi: 10.1167/iovs.17-22948a. PMID: 28973336], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A2RRR5", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0022850 serotonin-gated monoatomic cation channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0005231 excitatory extracellular ligand-gated monoatomic ion channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0045211 postsynaptic membrane;GO:0043005 neuron projection;GO:1904602 serotonin-activated cation-selective channel complex", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0007268 chemical synaptic transmission;GO:0034220 monoatomic ion transmembrane transport;GO:0007210 serotonin receptor signaling pathway;GO:0140227 serotonin-gated cation-selective signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q8WXA8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y235-1", "uniprot_id": "ABEC2_HUMAN", "mass": 25703.0, "length": 224, "protein_name": "C->U-editing enzyme APOBEC-2", "gene_name": "APOBEC2", "organism": "Human", "refseq_name": "C->U-editing enzyme APOBEC-2", "refseq_ac": "NP_006780", "gene_names_uniprotkb": "APOBEC2", "gene_names_refseq": "APOBEC2; ARCD1; ARP1", "protein_names_uniprotkb": "C->U-editing enzyme APOBEC-2; 3.5.4.36; mRNA(cytosine(6666)) deaminase 2", "protein_names_refseq": "C->U-editing enzyme APOBEC-2; apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2; apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2; mRNA(cytosine(6666)) deaminase 2; probable C->U-editing enzyme APOBEC-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10930); (R-HSA-72200); (R-HSA-75094)", "pathway_count": 3, "publication_count": 13, "publication_id_list": "10403781;11718896;15659357;17187054;19911124;20138841;21469143;21496894;29769354;31154438;35580925;38166744;8208612", "class_list": "", "function": "Expression and prognostic value of APOBEC2 in gastric adenocarcinoma and its association with tumor-infiltrating immune cells. Publication Status: Online-Only, [RefSeq, PubMed]; Findings indicate that aberrant APOBEC2 expression causes nucleotide alterations in the transcripts of the specific target gene and could be involved in the development of human hepatocellular carcinoma through hepatic inflammation., [RefSeq, PubMed]; Probable C to U editing enzyme whose physiological substrate is not yet known. Does not display detectable apoB mRNA editing. Has a low intrinsic cytidine deaminase activity. May play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation., [UniProtKB, PubMed, PubMed]; Studies indicate the APOBEC family consists of 11 members: APOBEC-1 (Apo1), APOBEC-2 (Apo2), activation induced cytidine deaminase (AID), APOBEC- 3A, -3B, -3C, -3DE, -3F, -3H (Apo3A-H) and APOBEC- 4 (Apo4). Review article, [RefSeq, PubMed]; The APOBEC2 was confirmed to be elevated in the tonsils with IgAN patients, and the gene expression level was negatively related with serum IgG level in overall 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": "B2R899;Q53F28;Q5TGU5;Q5TGU6", "ec_number_list": "3.5.4.38;3.5.4.-;3.5.4.36", "go_molecular_function": "GO:0003723 RNA binding;GO:0004126 cytidine deaminase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0044029 positive regulation of gene expression via chromosomal CpG island demethylation;GO:0006397 mRNA processing;GO:0016554 cytidine to uridine editing", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9Y235-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96AP0-3", "uniprot_id": "ACD_HUMAN", "mass": 48967.0, "length": 458, "protein_name": "Adrenocortical dysplasia protein homolog", "gene_name": "ACD", "organism": "Human", "refseq_name": "adrenocortical dysplasia protein homolog isoform 1", "refseq_ac": "NP_001075955", "gene_names_uniprotkb": "ACD; PIP1; PTOP; TINT1; TPP1", "gene_names_refseq": "ACD; DKCA6; DKCB7; PIP1; PTOP; TINT1; TPP1", "protein_names_uniprotkb": "Adrenocortical dysplasia protein homolog; POT1 and TIN2-interacting protein", "protein_names_refseq": "POT1 and TIN2-interacting protein; TIN2 interacting protein 1; adrenocortical dysplasia homolog; adrenocortical dysplasia protein homolog isoform 1", "tax_id": 9606, "disease": "autosomal dominant dyskeratosis congenita 6 (Disease Ontology:DOID:0070023)", "pathway": " (hsa:65057); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-171319); (R-HSA-174411); (R-HSA-174414); (R-HSA-174417); (R-HSA-174430); (R-HSA-174437); (R-HSA-2559586); (R-HSA-9670095)", "pathway_count": 15, "publication_count": 186, "publication_id_list": "10037601;10074426;10323868;10329413;10669743;10706276;10882850;10930409;11056019;11454856;11673449;11904416;12097317;12140329;12393752;12456671;12556884;12699629;12718543;12766176;12930902;12953102;14532133;15007108;15060173;15064416;15066120;15125634;15181449;15189140;15231715;15235794;15316005;15341901;15369670;15380063;15383534;15458641;15510216;15537664;15655109;15790808;16141325;16166375;16221681;16262255;16314528;16339074;16522649;16858402;16880378;17172855;17237768;17395830;17512402;17694070;17923702;18220336;18358808;18438399;18523010;18593712;19146767;19179534;1924375;19383767;19648609;19664995;19690332;19734544;1974050;19783983;19854130;20211137;20231318;20404094;20524933;20551483;20634189;20639858;20651253;21722948;22460582;22569481;22579284;22848106;22871736;22962365;23103865;23186163;2342578;23481700;23604072;23657261;23755964;2392154;24038470;24115439;24275569;25128433;25205116;25233904;25240135;25271372;25418920;25593184;25620558;25645385;26055325;26095805;26929215;27354518;27396482;27600516;27849570;27920218;28218747;28228285;28334750;28832583;28854357;29178645;29242379;29508533;29695869;29774655;30026550;30524438;31723267;32157095;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33537174;33691108;33936100;33968037;34087483;34171305;34211107;34405274;34509645;35051231;35561310;36010968;36215666;36241641;36649908;37021555;38176734;38722833;39531497;40307207;6693436;7479006;8016081;8110764;8218289;8242751;8242752;8284199;8407958;8475094;8662714;8794855;8954124;9008167;9187114;9207108;9223305;9223306;9285814;9321410;9430628;9705289;9733514;9733515;9790531;9811839;9822671;9843217;9890904", "class_list": "", "function": "A paper that firstly reported cloning of human TTP1 (PTOP) and its biological function at telomere. TPP1 interacts with both POT1 and TIN2, heterodimerizes with POT1 and regulates POT1 telomeric recruitment and telomere length., [RefSeq, PubMed]; CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension., [RefSeq, PubMed]; Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders., [RefSeq, PubMed]; Complex interaction network revealed by mutation of human telomerase 'insertion in fingers' and essential N-terminal domains and the telomere protein TPP1., [RefSeq, PubMed]; Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends. Without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1 heterodimer enhances telomere elongation by recruiting telomerase to telomeres and increasing its processivity. May play a role in organogenesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TINT1 localized to telomeres via TIN2, where it functions as a negative regulator of telomerase-mediated telomere elongation., [RefSeq, PubMed]; TPP1 is associated with risk of advanced precursors and cervical cancer survival. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [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": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0A0C4DGT6;Q562H5;Q9H8F9", "ec_number_list": "", "go_molecular_function": "GO:0042162 telomeric DNA binding;GO:0044877 protein-containing complex binding;GO:0070182 DNA polymerase binding;GO:0010521 telomerase inhibitor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000783 nuclear telomere cap complex;GO:0070187 shelterin complex;GO:0005697 telomerase holoenzyme complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0000723 telomere maintenance;GO:0016233 telomere capping;GO:0031848 protection from non-homologous end joining at telomere;GO:0032202 telomere assembly", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "Q96AP0-3", "record_type": "protein" }, { "uniprot_canonical_ac": "P46098-1", "uniprot_id": "5HT3A_HUMAN", "mass": 55280.0, "length": 478, "protein_name": "5-hydroxytryptamine receptor 3A", "gene_name": "HTR3A", "organism": "Human", "refseq_name": "5-hydroxytryptamine receptor 3A isoform c", "refseq_ac": "NP_001155244", "gene_names_uniprotkb": "HTR3A; 5HT3R; HTR3", "gene_names_refseq": "5-HT-3; 5-HT3A; 5-HT3R; 5HT3R; HTR3A; HTR3", "protein_names_uniprotkb": "5-hydroxytryptamine receptor 3A; 5-HT-3; 5-HT3-A; 5-HT3A; 5-HT3R; 5-hydroxytryptamine receptor 3; Serotonin receptor 3A; Serotonin-gated ion channel receptor", "protein_names_refseq": "5-hydroxytryptamine (serotonin) receptor 3A, ionotropic; 5-hydroxytryptamine receptor 3A isoform c; 5-hydroxytryptamine receptor 3; 5HT3 serotonin receptor; serotonin receptor 3A; serotonin-gated ion channel receptor", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); irritable bowel syndrome (Disease Ontology:DOID:9778); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:3359); (R-HSA-112314)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10521471;10670426;11237011;11485506;11505217;12532186;12867984;1387926;15028279;15293096;15450944;15809299;16116092;16389408;16487942;17392525;17652911;18761359;20844345;21180598;2155780;22993341;25323946;25333367;25949526;26238288;28291778;29763014;29774051;33063666;34202161;35051231;35413654;35800179;36215666;36769290;37340703;7507039;7565620;7691500;8717357;8848005;9677400;9928262;9950429", "class_list": "", "function": "5-HT3 Signaling Alters Development of Sacral Neural Crest Derivatives That Innervate the Lower Urinary Tract. Publication Status: Online-Only, [RefSeq, PubMed]; Expression Patterns of Serotonin Receptors 5-HT1A, 5-HT2A, and 5-HT3A during Human Fetal Lung Development. Publication Status: Online-Only, [RefSeq, PubMed]; Fear reacquisition and symptoms of combat-related PTSD: Specificity and preliminary examination of the influence of the 5-HT3A receptor gene., [RefSeq, PubMed]; Forms serotonin (5-hydroxytryptamine/5-HT3)-activated cation-selective channel complexes, which when activated cause fast, depolarizing responses in neurons., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; High-resolution structures of multiple 5-HT3AR-setron complexes reveal a novel mechanism of competitive inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Serotonin type 3 receptor subunit gene polymorphisms associated with psychosomatic symptoms in irritable bowel syndrome: A multicenter retrospective study., [RefSeq, PubMed]; The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding 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": 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": 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": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B4DSY6;G5E986;O60854;Q7KZM7;Q99918;Q9BSZ9", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0022850 serotonin-gated monoatomic cation channel activity;GO:0042802 identical protein binding;GO:0051378 serotonin binding;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0005231 excitatory extracellular ligand-gated monoatomic ion channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0045211 postsynaptic membrane;GO:0043005 neuron projection;GO:0032154 cleavage furrow", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0007268 chemical synaptic transmission;GO:0034220 monoatomic ion transmembrane transport;GO:0007210 serotonin receptor signaling pathway;GO:0140227 serotonin-gated cation-selective signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "P46098-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13131-1", "uniprot_id": "AAPK1_HUMAN", "mass": 64009.0, "length": 559, "protein_name": "5'-AMP-activated protein kinase catalytic subunit alpha-1", "gene_name": "PRKAA1", "organism": "Human", "refseq_name": "5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1", "refseq_ac": "NP_006242", "gene_names_uniprotkb": "PRKAA1; AMPK1", "gene_names_refseq": "AMPK alpha 1; AMPKa1; AMPK; PRKAA1", "protein_names_uniprotkb": "5'-AMP-activated protein kinase catalytic subunit alpha-1; 2.7.11.1; 2.7.11.26; 2.7.11.31; ACACA kinase; AMPK subunit alpha-1; Acetyl-CoA carboxylase kinase; HMGCR kinase; Hydroxymethylglutaryl-CoA reductase kinase; Tau-protein kinase PRKAA1", "protein_names_refseq": "5'-AMP-activated protein kinase catalytic subunit alpha-1 isoform 1; 5'-AMP-activated protein kinase catalytic subunit alpha-1; 5'-AMP-activated protein kinase, catalytic alpha-1 chain; ACACA kinase; AMP -activate kinase alpha 1 subunit; AMP-activated protein kinase, catalytic, alpha-1; AMPK subunit alpha-1; AMPK, alpha, 1; HMGCR kinase; acetyl-CoA carboxylase kinase; hydroxymethylglutaryl-CoA reductase kinase; protein kinase, AMP-activated, alpha 1 catalytic subunit; tau-protein kinase PRKAA1", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858); cholestasis (Disease Ontology:DOID:13580); Parkinson's disease (Disease Ontology:DOID:14330); breast cancer (Disease Ontology:DOID:1612); colon cancer (Disease Ontology:DOID:219); lung non-small cell carcinoma (Disease Ontology:DOID:3908); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5562); (R-HSA-1632852); (R-HSA-380972); (R-HSA-5628897); (R-HSA-6804756); (R-HSA-9619483); (R-HSA-9931269)", "pathway_count": 7, "publication_count": 252, "publication_id_list": "10329961;10435622;10500146;10570149;10604467;10673500;10673501;10710310;10716435;10745013;10884347;10980602;11018120;11029283;11034341;11096062;11239457;11340051;11447225;11486029;11511362;11518699;11545734;11546806;11551930;11554766;11602624;11740489;11780126;11825910;11959846;12064478;12161445;12203114;12393879;12438239;12453409;12519745;12702766;12714747;12805220;12851404;12869586;12906785;12914926;13298683;13538944;14511394;14517248;14614828;14651849;14702041;14976552;14985505;15053879;15105503;15187094;15223;15579580;15589136;15591024;15866171;15980064;16054095;16140933;16322561;16340011;16413492;16636147;16728594;16760263;16839880;16943194;16959974;16963840;17023420;17028174;17088252;17108107;17298220;17307971;17349958;17486094;17486097;17540029;17591690;17618624;17711846;17712357;18083107;18088087;18184930;18198340;18220336;18321988;18344994;18403135;18439900;18490454;18663353;18669648;18691976;18692468;19113821;19121998;19211835;19322194;19369195;19439913;19487573;19590496;19651622;19690332;19822145;19855179;19898463;19940154;19965871;20059746;20068231;20074060;20080666;20112406;20160076;20166139;20182617;20351271;20378837;20713597;20921139;20959462;21177865;21205641;21258367;21317932;21383122;21460621;21460634;21680840;21750704;21768291;21819378;21918180;21958598;22170151;22363791;22682742;23000554;23088624;23186163;23202584;23328677;23485397;23583109;23625915;23676219;23685627;23727157;23775793;23884233;24066844;24145406;24275569;24366874;24383451;24563466;24715725;24718924;24747438;24874608;24954904;25418920;25484072;25568151;25576301;25579166;25880248;26154972;26640549;26652033;26811146;26992070;27784766;27846572;27862975;28218747;28228285;28561066;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;30118680;30315122;30410026;30484775;31154438;31217245;31492851;31530632;31844290;31848261;32029622;32157095;32161166;32265295;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33658485;33912179;33968037;34077757;34357683;34561969;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36367943;36732624;37079666;37821951;39024127;39107544;39484290;40233740;5666113;7628435;7979252;7989588;8119488;8549768;8557660;8779952;8910387;9857077;9925639;9926927", "class_list": "", "function": "Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism (PubMed:17307971, PubMed:17712357, PubMed:24563466, PubMed:31492851, PubMed:37821951, PubMed:40233740). In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation (PubMed:17307971, PubMed:17712357). AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators (PubMed:17307971, PubMed:17712357). Regulates lipid synthesis by phosphorylating and inactivating lipid metabolic enzymes such as ACACA, ACACB, GYS1, HMGCR and LIPE; regulates fatty acid and cholesterol synthesis by phosphorylating acetyl-CoA carboxylase (ACACA and ACACB) and hormone-sensitive lipase (LIPE) enzymes, respectively (By similarity). Promotes lipolysis of lipid droplets by mediating phosphorylation of isoform 1 of CHKA (CHKalpha2) (PubMed:34077757). Regulates insulin-signaling and glycolysis by phosphorylating IRS1, PFKFB2 and PFKFB3 (By similarity). AMPK stimulates glucose uptake in muscle by increasing the translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane, possibly by mediating phosphorylation of TBC1D4/AS160 (By similarity). Regulates transcription and chromatin structure by phosphorylating transcription regulators involved in energy metabolism such as CRTC2/TORC2, FOXO3, histone H2B, HDAC5, MEF2C, MLXIPL/ChREBP, EP300, HNF4A, p53/TP53, SREBF1, SREBF2 and PPARGC1A (PubMed:11518699, PubMed:11554766, PubMed:15866171, PubMed:17711846, PubMed:18184930). Acts as a key regulator of glucose homeostasis in liver by phosphorylating CRTC2/TORC2, leading to CRTC2/TORC2 sequestration in the cytoplasm (By similarity). In response to stress, phosphorylates 'Ser-36' of histone H2B (H2BS36ph), leading to promote transcription (By similarity). Acts as a key regulator of cell growth and proliferation by phosphorylating FNIP1, TSC2, RPTOR, WDR24 and ATG1/ULK1: in response to nutrient limitation, negatively regulates the mTORC1 complex by phosphorylating RPTOR component of the mTORC1 complex and by phosphorylating and activating TSC2 (PubMed:14651849, PubMed:18439900, PubMed:20160076, PubMed:21205641). Also phosphorylates and inhibits GATOR2 subunit WDR24 in response to nutrient limitation, leading to suppress glucose-mediated mTORC1 activation (PubMed:36732624). In response to energetic stress, phosphorylates FNIP1, inactivating the non-canonical mTORC1 signaling, thereby promoting nuclear translocation of TFEB and TFE3, and inducing transcription of lysosomal or autophagy genes (PubMed:37079666). In response to nutrient limitation, promotes autophagy by phosphorylating and activating ATG1/ULK1 (PubMed:21205641). In that process, it also activates WDR45/WIPI4 (PubMed:28561066). Phosphorylates CASP6, thereby preventing its autoprocessing and subsequent activation (PubMed:32029622). In response to nutrient limitation, phosphorylates transcription factor FOXO3 promoting FOXO3 mitochondrial import (By similarity). Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin (PubMed:17486097). AMPK also acts as a regulator of circadian rhythm by mediating phosphorylation of CRY1, leading to destabilize it (By similarity). May regulate the Wnt signaling pathway by phosphorylating CTNNB1, leading to stabilize it (By similarity). Also has tau-protein kinase activity: in response to amyloid beta A4 protein (APP) exposure, activated by CAMKK2, leading to phosphorylation of MAPT/TAU; however the relevance of such data remains unclear in vivo (By similarity). Also phosphorylates CFTR, EEF2K, KLC1, NOS3 and SLC12A1 (PubMed:12519745, PubMed:20074060). Regulates hepatic lipogenesis. Activated via SIRT3, represses sterol regulatory element-binding protein (SREBP) transcriptional activities and ATP-consuming lipogenesis to restore cellular energy balance. Upon stress, regulates mitochondrial fragmentation through phosphorylation of MTFR1L (PubMed:36367943). Phosphorylates ALDH7A1 in response to cellular stress, such as hypoxia or ferroptotic stress, promoting ALDH7A1 recruitment to membranes (PubMed:31492851, PubMed:40233740)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Genetic Variations in AMPK, FOXO3A, and POMC Increase the Risk of Extreme Obesity. Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of AMPK and GAPDH by Transglutaminase 2 Plays a Pivotal Role in Microvascular Leakage in Diabetic Retinas., [RefSeq, PubMed]; SIGMAR1 targets AMPK/ULK1 pathway to inhibit SH-SY5Y cell apoptosis by regulating endoplasmic reticulum stress and autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [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": 37, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "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": "A8MTQ6;B2R7E1;O00286;Q5D0E1;Q86VS1;Q9UNQ4", "ec_number_list": "3.6.5.-;2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;3.1.3.16;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;1.11.1.-;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0003682 chromatin binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol", "go_biological_process": "GO:1903944 negative regulation of hepatocyte apoptotic process;GO:0002842 positive regulation of T cell mediated immune response to tumor cell;GO:0046627 negative regulation of insulin receptor signaling pathway;GO:1904179 positive regulation of adipose tissue development;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 25.3, "record_id": "Q13131-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P27348-1", "uniprot_id": "1433T_HUMAN", "mass": 27764.0, "length": 245, "protein_name": "14-3-3 protein theta", "gene_name": "YWHAQ", "organism": "Human", "refseq_name": "14-3-3 protein theta", "refseq_ac": "NP_006817", "gene_names_uniprotkb": "YWHAQ", "gene_names_refseq": "14-3-3; 1C5; HS1; YWHAQ", "protein_names_uniprotkb": "14-3-3 protein theta; 14-3-3 protein T-cell; 14-3-3 protein tau; Protein HS1", "protein_names_refseq": "14-3-3 protein T-cell; 14-3-3 protein tau; 14-3-3 protein theta; 14-3-3 theta; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059); temporal lobe epilepsy (Disease Ontology:DOID:3328)", "pathway": " (hsa:10971); (R-HSA-111447); (R-HSA-1445148); (R-HSA-5625740); (R-HSA-5628897); (R-HSA-75035); (R-HSA-9614399); (R-HSA-9735871); (R-HSA-9755779)", "pathway_count": 9, "publication_count": 251, "publication_id_list": "10102273;10195903;10329961;10330186;10358075;10435585;10619026;10716435;10745013;10753910;10862767;10924361;10949026;10980602;11029283;11034341;11080204;11134534;11237011;11237865;11313932;11331307;11340051;11486029;11545734;11697890;11942626;11959846;12042314;12161445;12177059;12203114;12438239;12453409;12657644;12665801;12714747;12766774;12783890;12869586;12906785;13298683;13538944;14514689;14651849;14654843;14701673;15003508;15105503;15159416;15184667;15223;15589136;15660102;15791647;15919790;15971998;16103198;16114898;16140933;16272144;16413492;16636147;16728594;16760263;16839880;16880201;16959763;16998888;17081983;17085597;17244620;17298220;17301291;17306213;17369524;17486094;17540029;17947532;17995453;18006505;18055455;18198340;18344994;18369606;18669648;18691976;18692468;19013499;19113821;19172738;19252894;19415658;19416966;19439913;19487573;19608861;19640509;19664995;19723632;19822145;20068231;20080666;2015305;20154085;20182617;20351271;20378837;20478047;20631154;20701589;20837646;20937701;21351730;21454505;21454690;21749319;21750704;21907143;21958598;22363791;22706990;23301498;23572552;23775793;24066844;24128008;24366607;24366874;24383451;24715725;24718924;25271362;2550440;25576301;25579166;25588844;25862939;25880248;26047703;26154972;26375851;26652033;26811146;26992070;27030597;27452731;27600516;27846572;27862975;27920218;28218747;28228285;28436939;28514659;28832583;28855257;28904123;29242379;29314611;29317506;29331515;29393594;29437277;29508533;29557506;29605689;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30410026;30429286;30444036;30524438;30779550;31092671;31154438;31217245;31222486;31530632;31717259;31844290;31848261;31998317;32157095;32161166;32329246;32350084;32357974;32387766;32488085;32501683;32502341;32897882;32938616;32983136;33147444;33214551;33298915;33465208;33556408;33592498;33633747;33691108;33717175;33912179;33968037;34019948;34078123;34171305;34357683;34433824;34513728;34561969;34931806;34932366;35051231;35126886;35138101;35154160;35251023;35561310;35580925;36241641;36284347;37217939;37804592;38001539;38665916;39990658;40596516;40914422;5666113;7603573;7979252;7989588;8094051;8119488;8515476;8662509;8664345;9278512;9354661;9360956;9889122;9926927;9988689", "class_list": "", "function": "14-3-3 [Formula: see text]-reported early synaptic injury in Alzheimer's disease is independently mediated by sTREM2. Publication Status: Online-Only, [RefSeq, PubMed]; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1., [UniProtKB, PubMed]; Crystal structure reveals canonical recognition of the phosphorylated cytoplasmic loop of human alpha7 nicotinic acetylcholine receptor by 14-3-3 protein., [RefSeq, PubMed]; This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [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": 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "D6W4Z5;Q567U5;Q5TZU8;Q9UP48", "ec_number_list": "", "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0044325 transmembrane transporter binding;GO:0071889 14-3-3 protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0021762 substantia nigra development;GO:0045892 negative regulation of DNA-templated transcription;GO:0034766 negative regulation of monoatomic ion transmembrane transport;GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 25.9, "record_id": "P27348-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P28288-1", "uniprot_id": "ABCD3_HUMAN", "mass": 75476.0, "length": 659, "protein_name": "ATP-binding cassette sub-family D member 3", "gene_name": "ABCD3", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family D member 3 isoform b", "refseq_ac": "NP_001116146", "gene_names_uniprotkb": "ABCD3; PMP70; PXMP1", "gene_names_refseq": "ABC43; ABCD3; CBAS5; OPDM5; PMP70; PXMP1; ZWS2", "protein_names_uniprotkb": "ATP-binding cassette sub-family D member 3; 3.1.2.-; 7.6.2.-; 70 kDa peroxisomal membrane protein; PMP70", "protein_names_refseq": "70 kDa peroxisomal membrane protein; ATP-binding cassette sub-family D member 3 isoform b; ATP-binding cassette sub-family D member 3; Peroxisomal membrane protein-1 (70kD); dJ824O18.1 (ATP-binding cassette, sub-family D (ALD), member 3 (PMP70, PXMP1)); peroxisomal membrane protein 1 (70kD, Zellweger syndrome); peroxisomal membrane protein 70 kDa", "tax_id": 9606, "disease": "congenital bile acid synthesis defect 5 (Disease Ontology:DOID:0111066); adrenoleukodystrophy (Disease Ontology:DOID:10588); Zellweger syndrome (Disease Ontology:DOID:905); oculopharyngodistal myopathy 5 (MONDO:MONDO:0980937)", "pathway": " (hsa:5825); (R-HSA-1369062); (R-HSA-8980692); (R-HSA-9013106); (R-HSA-9603798)", "pathway_count": 5, "publication_count": 306, "publication_id_list": "10037681;10232922;10430017;10490598;10523665;10523675;10526156;10551832;10579713;10619026;10699171;10704444;10777694;10873388;10873640;11058585;11085924;11095984;11099417;11178988;11207612;11237011;11248239;11309290;11373293;11390669;11396949;11402059;11431473;11432776;11453642;11478798;11590176;11606068;11606631;11672528;11680691;11689693;11704860;11718719;11804589;11804590;11883941;11884391;11912491;12071859;12093360;12150964;12183068;12195014;12221077;12221096;12504089;12509503;12531887;12650940;12751901;12821155;12857875;12877655;12917409;12924628;1301993;14512443;14570867;14592415;14709540;15007061;15023524;15044640;15064355;15107133;15209530;15302923;15342493;1536884;15485661;15601624;15611138;15713480;15781447;15850391;15866170;15994327;16007253;16112081;16116428;16184169;16217026;16280322;16344115;16467373;16519628;16630611;16776779;16777452;16777849;16791427;16862148;16895967;16896804;16914516;16980692;17069900;17077126;17562871;17609205;17702745;17761678;17765681;17804252;17932950;17942708;17976533;18158243;18174172;18218625;18782765;18829452;19494238;19605563;19608861;19635168;19673492;19713215;20030946;20064448;20068231;20101212;20400958;20531392;20554521;20591975;20628200;20660154;21102411;21148482;21242884;21351730;21454492;21565175;21576392;21699497;21757538;21865595;21936715;22096251;22298643;22305756;22624858;22673745;22790947;22911862;22992742;23200924;23255595;23434736;23460677;23481700;23572525;23628762;23870313;24086303;24128008;24259668;24333844;24335996;24352656;24714562;24715725;24831815;24933155;25062251;25168382;25211221;25425145;25517356;25576301;25645385;25704760;25880248;25892735;26154972;26371245;26375851;26529257;26728094;26777132;26887924;26992070;27145964;27216196;27481945;27597759;27766264;27846572;27862975;27986909;28112683;28196833;28218747;28228285;28281558;28325759;28467828;28514659;28584191;28832583;28834231;28855257;28904123;29100943;29146911;29242379;29397936;29493099;29557506;29769354;30315122;30397120;30429286;30540494;30779550;31020640;31105010;31154438;31217245;31844290;31848261;31871319;32157095;32203420;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33691108;33717175;33968037;33981976;34087483;34171305;34198763;34211107;34405274;34509645;34561969;34932366;35051231;35154160;36010968;36215666;36241641;36284347;36581221;37217939;38665916;39068203;7479768;7673236;7721814;7753201;8021274;8411712;8507690;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8706931;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9345306;9418861;9418908;9490638;9497316;9521874;9535835;9539740;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes.ABCD4 is deduced to take part in the transport of vitamin B12 from lysosomes into the cytosol. Review article, [RefSeq, PubMed]; Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that catalyzes the transport of long-chain fatty acids (LCFA)-CoA, dicarboxylic acids-CoA, long-branched-chain fatty acids-CoA and bile acids from the cytosol to the peroxisome lumen for beta-oxydation (PubMed:11248239, PubMed:24333844, PubMed:25168382, PubMed:29397936). Has fatty acyl-CoA thioesterase and ATPase activities (PubMed:29397936). Probably hydrolyzes fatty acyl-CoAs into free fatty acids prior to their ATP-dependent transport into peroxisomes (By similarity). Thus, play a role in regulation of LCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation (PubMed:24333844, PubMed:25944712)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; In HEK293 cells, the D-bifunctional protein (HSD17B4) and the peroxisomal ABC transporter ABCD3 are essential in peroxisomal oxidation of lauric and palmitic acid., [RefSeq, PubMed]; Peroxisomal ABC Transporters: An Update. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The 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 ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DT46;Q15271;Q6NUN5;Q96DA3;Q9H529", "ec_number_list": "3.1.2.2;2.7.11.1;2.7.11.39;3.6.5.2;3.1.2.-;7.6.2.-;2.3.2.27;2.3.2.36;1.14.14.18;3.6.4.-;3.1.4.4;2.7.11.13;7.4.2.-", "go_molecular_function": "GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0042803 protein homodimerization activity;GO:0047617 fatty acyl-CoA hydrolase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0000038 very long-chain fatty acid metabolic process;GO:0006635 fatty acid beta-oxidation;GO:0006699 bile acid biosynthetic process;GO:0042760 very long-chain fatty acid catabolic process;GO:0006633 fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 30.9, "record_id": "P28288-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54646-1", "uniprot_id": "AAPK2_HUMAN", "mass": 62320.0, "length": 552, "protein_name": "5'-AMP-activated protein kinase catalytic subunit alpha-2", "gene_name": "PRKAA2", "organism": "Human", "refseq_name": "5'-AMP-activated protein kinase catalytic subunit alpha-2", "refseq_ac": "NP_006243", "gene_names_uniprotkb": "PRKAA2; AMPK2; AMPK", "gene_names_refseq": "AMPK2; AMPKa2; AMPK; PRKAA2; PRKAA", "protein_names_uniprotkb": "5'-AMP-activated protein kinase catalytic subunit alpha-2; 2.7.11.1; 2.7.11.31; ACACA kinase; AMPK subunit alpha-2; Acetyl-CoA carboxylase kinase; HMGCR kinase; Hydroxymethylglutaryl-CoA reductase kinase", "protein_names_refseq": "5'-AMP-activated protein kinase catalytic subunit alpha-2; 5'-AMP-activated protein kinase, catalytic alpha-2 chain; ACACA kinase; AMPK alpha 2; AMPK subunit alpha-2; AMPK-alpha-2 chain; HMGCR kinase; acetyl-CoA carboxylase kinase; hydroxymethylglutaryl-CoA reductase kinase; protein kinase, AMP-activated, alpha 2 catalytic subunit", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5563); (R-HSA-1445148); (R-HSA-1632852); (R-HSA-163680); (R-HSA-200425); (R-HSA-2151209); (R-HSA-380972); (R-HSA-5628897); (R-HSA-6804756); (R-HSA-9613354); (R-HSA-9619483); (R-HSA-9759194); (R-HSA-9931269)", "pathway_count": 13, "publication_count": 465, "publication_id_list": "10329961;10435622;10500146;10559218;10570149;10601328;10604467;10642499;10673500;10673501;10677481;10698692;10710310;10716435;10745013;10821856;10884347;10980602;11018120;11029283;11034341;11096062;11239457;11340051;11356169;11447225;11481440;11486029;11511362;11518699;11545734;11546806;11551930;11554766;11602624;11740489;11780126;11790793;11825910;11959846;12064478;12145153;12161445;12203114;12393879;12438239;12453409;12519745;12702766;12714747;12764152;12802337;12805220;12851404;12869586;12878598;12906785;12914926;13298683;13538944;14511394;14517221;14517248;14614828;14651849;14693511;14702041;14711372;14976552;14985505;15053879;15060529;15105503;15187094;15223;15371448;15579580;15589136;15591024;15866171;15919790;15971998;15980064;16140933;16322561;16340011;16413492;16600998;16636147;16728594;16760263;16818670;16839880;16880201;16943194;16959974;16963840;17083919;17099248;17108107;17178807;17223360;17298220;17307971;17339833;17344846;17349958;17369524;17486094;17486097;17540029;17591690;17618624;17711846;17712357;17849173;17925401;17995453;18184930;18198340;18321988;18344994;18439900;18474106;18490454;18556348;18614941;18669648;18691976;18692468;18693249;19013499;19036825;19112161;19113821;19121998;19211835;19252894;19273602;19322194;19369195;19413330;19415658;19439913;19487573;19590496;19666001;19822145;19855179;19898463;19942859;19958286;19965871;20059746;20068231;20074060;20080666;20112400;20124709;20160076;20182617;20217115;20233797;20351271;20363874;20378837;20452972;20457939;20460103;20538056;20631154;20701589;20713597;20837646;20921139;20937701;20959462;21062936;21177865;21205641;21258367;21317932;21318153;21383122;21451146;21454505;21454690;21460621;21460634;21474604;21474997;21507243;21543851;21562078;21673100;21673972;21750704;21778691;21819378;21907143;21958598;22029423;22123817;22170151;22284532;22291597;22315316;22359610;22363791;22428043;22451268;22492524;22514710;22517326;22574218;22645359;22682742;22719961;22821946;22871568;22952994;22972179;22975059;23000554;23044421;23088624;23186163;23202584;23216827;23238131;23298764;23301498;23485397;23676219;23685627;23727157;23741428;23747367;23773688;23775793;23805277;23884233;23935921;23942093;23967345;24066844;24100028;24145406;24277613;24366874;24383451;24387300;24389872;24425763;24434520;24450630;24467442;24511687;24563466;24691558;24692660;24718924;24746562;24747438;24767988;24823908;24874608;24954904;24972246;25061501;25080865;25084564;25241895;25325265;25409232;25418920;25484072;25497784;2550440;25537507;25568151;25579166;25687571;25846006;25849721;25961502;26193886;26374855;26489410;26542945;26578976;26652033;26742424;26797128;26804254;26828774;26861281;26893937;26902588;26929215;26952277;26997114;26999735;27133129;27161318;27230293;27262938;27494895;27600516;27626315;27633131;27693630;27784766;27809416;27887844;28218747;28228285;28552616;28561066;28611773;28649982;28832583;28834231;28855257;28904123;28973823;28974016;28985506;28994003;29152112;29221189;29233872;29242379;29393594;29399091;29442133;29491475;29557506;29632046;29632711;29654166;29671580;29741879;29755474;29799853;29914450;29988028;30011295;30018557;30061832;30118680;30129983;30467274;30637162;30720062;30864681;31001279;31024752;31372798;31404503;31489252;31515527;31541080;31569635;31597407;31624493;31627466;31641367;31798532;31817196;31835577;31844290;31969827;32020870;32029622;32029897;32046043;32083006;32151973;32152146;32174982;32195105;32244181;32273511;32284348;32357974;32377712;32387766;32393385;32398698;32570982;32590330;32601620;32681102;32765083;32766475;32916992;32937443;32962063;33008449;33015052;33040052;33043019;33097833;33123756;33139797;33184378;33194631;33207837;33219302;33241200;33261193;33391485;33391522;33400924;33411680;33477536;33543028;33592498;33633747;33766052;33819291;33898950;33912179;33916175;33919842;33923896;33953705;33968037;34077757;34087483;34171305;35124784;35883894;36010968;36017701;36367943;36732624;37079666;37962491;38301894;38424484;38785262;5666113;7628435;7711730;7959015;7979252;7988703;7989588;8094051;8119488;8549768;8664345;8779952;9048718;9099716;9344464;9374491;9399886;9685390;9691089;9706223;9925639;9926927", "class_list": "", "function": "AMPKalpha2 promotes tumor immune escape by inducing CD8+ T-cell exhaustion and CD4+ Treg cell formation in liver hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism (PubMed:17307971, PubMed:17712357). In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation (PubMed:17307971, PubMed:17712357). AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators (PubMed:17307971, PubMed:17712357). Regulates lipid synthesis by phosphorylating and inactivating lipid metabolic enzymes such as ACACA, ACACB, GYS1, HMGCR and LIPE; regulates fatty acid and cholesterol synthesis by phosphorylating acetyl-CoA carboxylase (ACACA and ACACB) and hormone-sensitive lipase (LIPE) enzymes, respectively (PubMed:7959015). Promotes lipolysis of lipid droplets by mediating phosphorylation of isoform 1 of CHKA (CHKalpha2) (PubMed:34077757). Regulates insulin-signaling and glycolysis by phosphorylating IRS1, PFKFB2 and PFKFB3 (By similarity). Involved in insulin receptor/INSR internalization (PubMed:25687571). AMPK stimulates glucose uptake in muscle by increasing the translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane, possibly by mediating phosphorylation of TBC1D4/AS160 (By similarity). Regulates transcription and chromatin structure by phosphorylating transcription regulators involved in energy metabolism such as CRTC2/TORC2, FOXO3, histone H2B, HDAC5, MEF2C, MLXIPL/ChREBP, EP300, HNF4A, p53/TP53, SREBF1, SREBF2 and PPARGC1A (PubMed:11518699, PubMed:11554766, PubMed:15866171, PubMed:17711846, PubMed:18184930). Acts as a key regulator of glucose homeostasis in liver by phosphorylating CRTC2/TORC2, leading to CRTC2/TORC2 sequestration in the cytoplasm (By similarity). In response to stress, phosphorylates 'Ser-36' of histone H2B (H2BS36ph), leading to promote transcription (By similarity). Acts as a key regulator of cell growth and proliferation by phosphorylating FNIP1, TSC2, RPTOR, WDR24 and ATG1/ULK1: in response to nutrient limitation, negatively regulates the mTORC1 complex by phosphorylating RPTOR component of the mTORC1 complex and by phosphorylating and activating TSC2 (PubMed:14651849, PubMed:20160076, PubMed:21205641). Also phosphorylates and inhibits GATOR2 subunit WDR24 in response to nutrient limitation, leading to suppress glucose-mediated mTORC1 activation (PubMed:36732624). In response to energetic stress, phosphorylates FNIP1, inactivating the non-canonical mTORC1 signaling, thereby promoting nuclear translocation of TFEB and TFE3, and inducing transcription of lysosomal or autophagy genes (PubMed:37079666). In response to nutrient limitation, promotes autophagy by phosphorylating and activating ATG1/ULK1 (PubMed:21205641). In that process, it also activates WDR45/WIPI4 (PubMed:28561066). Phosphorylates CASP6, thereby preventing its autoprocessing and subsequent activation (PubMed:32029622). AMPK also acts as a regulator of circadian rhythm by mediating phosphorylation of CRY1, leading to destabilize it (By similarity). May regulate the Wnt signaling pathway by phosphorylating CTNNB1, leading to stabilize it (By similarity). Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin (PubMed:17486097). Also phosphorylates CFTR, EEF2K, KLC1, NOS3 and SLC12A1 (PubMed:12519745, PubMed:20074060). Plays an important role in the differential regulation of pro-autophagy (composed of PIK3C3, BECN1, PIK3R4 and UVRAG or ATG14) and non-autophagy (composed of PIK3C3, BECN1 and PIK3R4) complexes, in response to glucose starvation (By similarity). Can inhibit the non-autophagy complex by phosphorylating PIK3C3 and can activate the pro-autophagy complex by phosphorylating BECN1 (By similarity). Upon glucose starvation, promotes ARF6 activation in a kinase-independent manner leading to cell migration (PubMed:36017701). Upon glucose deprivation mediates the phosphorylation of ACSS2 at 'Ser-659', which exposes the nuclear localization signal of ACSS2, required for its interaction with KPNA1 and nuclear translocation (PubMed:28552616). Upon stress, regulates mitochondrial fragmentation through phosphorylation of MTFR1L (PubMed:36367943)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Frequent loss-of-function mutations in the AMPK-alpha2 catalytic subunit suggest a tumour suppressor role in human skin cancers. Erratum:[Biochem J. 2025 Dec 5;482(23):1813. doi: 10.1042/BCJ20230380_COR. PMID: 41348516], [RefSeq, PubMed]; SIRT5-mediated PRKAA2 succinylation ameliorates apoptosis of human placental trophoblasts in hypertensive disorder complicating pregnancy., [RefSeq, PubMed]; The BHLHE40-PPM1F-AMPK pathway regulates energy metabolism and is associated with the aggressiveness of endometrial cancer., [RefSeq, PubMed]; The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [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": 18, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9H1E8;Q9UD43", "ec_number_list": "3.6.5.-;2.7.11.1;2.7.11.21;6.4.1.2;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;3.6.4.10;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;3.1.3.16;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;1.11.1.-;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0003682 chromatin binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol", "go_biological_process": "GO:1903944 negative regulation of hepatocyte apoptotic process;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0008610 lipid biosynthetic process;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 47.2, "record_id": "P54646-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61981-1", "uniprot_id": "1433G_HUMAN", "mass": 28303.0, "length": 247, "protein_name": "14-3-3 protein gamma", "gene_name": "YWHAG", "organism": "Human", "refseq_name": "14-3-3 protein gamma", "refseq_ac": "NP_036611", "gene_names_uniprotkb": "YWHAG", "gene_names_refseq": "14-3-3GAMMA; DEE56; EIEE56; PPP1R170; YWHAG", "protein_names_uniprotkb": "14-3-3 protein gamma; KCIP-1; Protein kinase C inhibitor protein 1", "protein_names_refseq": "14-3-3 protein gamma; KCIP-1; protein kinase C inhibitor protein 1; protein phosphatase 1, regulatory subunit 170; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 56 (Disease Ontology:DOID:0080282); intellectual disability (Disease Ontology:DOID:1059); Creutzfeldt-Jakob disease (Disease Ontology:DOID:11949)", "pathway": " (hsa:7532); (R-HSA-111447); (R-HSA-1445148); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-5625740); (R-HSA-5628897); (R-HSA-75035); (R-HSA-8854518); (R-HSA-9614399); (R-HSA-9735871); (R-HSA-9755779); (R-HSA-9856649); (R-HSA-9929491)", "pathway_count": 18, "publication_count": 351, "publication_id_list": "10.1101/2023.09.13.557529;10102273;10195903;10329961;10330186;10358075;10433554;10435585;10486217;10567402;10611221;10619026;10655586;10673502;10716435;10745013;10753910;10924361;10949026;10980602;11027551;11029283;11034341;11076968;11134534;11237865;11313932;11331307;11340051;11427721;11486029;11545734;11697890;11840323;11891324;11912130;11930005;11942626;11956313;11959846;12161445;12203114;12207013;12221128;12364337;12438239;12453409;12657644;12665801;12714747;12766774;12783890;12852856;12869586;12906785;13298683;13538944;13678582;14514689;14534293;14580337;14651849;14654843;14701673;14975237;15003508;15105503;15118077;15159416;15184667;15223;15226305;15454081;15498487;15507434;15589136;15660102;15696159;15705883;15791647;15919790;15971998;16014379;16034366;16103198;16114898;16140933;16272144;16357211;16413492;16462731;16511572;16636147;16728594;16760263;16822840;16839880;16880201;16890155;16959763;1698554;16998888;17085597;17244620;17298220;17301291;17306213;17369524;1748288;17486094;17540029;17574030;17623675;17646400;17719545;17947532;17995453;18006505;18037885;18055455;18198340;18249187;18344994;18378770;18452278;18477460;18521620;18566290;18615013;18644867;18692468;18694559;18801063;19004860;19013499;19081074;19113821;19172738;19252894;19416966;19439913;19487573;19524539;19608861;19640509;19664994;19723632;19822145;19940019;20068231;20080666;20154085;20182617;20230748;20308558;20351271;20378837;20399632;20460180;20478047;20558667;20631154;20701589;20837646;20937701;21118956;21273506;21347367;21351730;21422230;21454505;21454690;21486943;21548880;21565611;21620453;21725307;21749319;21750704;21792235;21907143;21958598;21965087;22094468;22179047;22363791;22365832;22433857;22532927;22641346;22645359;22647378;22653444;23141531;23141541;23159739;23186163;23190890;23207919;23253480;23348840;23400999;23530209;23572552;23747070;23769972;23775793;23789104;23921553;24053599;24066844;24089205;24128008;24231678;24275569;24366874;24383451;24469809;24715725;24718924;24982133;25047611;25086053;25248477;25271362;25313408;25502872;2550440;25532896;25576301;25579166;25595898;25880248;25892735;26047703;26652033;26811146;26992070;27030597;27128622;27600516;27862975;28202711;28218747;28394346;28514659;28777935;28832583;28904123;29121962;29242379;29295999;29311810;29317506;29393594;29437277;29493099;29557506;29678907;29769354;29786170;30315122;30379171;30397120;30410026;30429286;30804224;30833945;31020640;31530632;31844290;31848261;31998317;32157095;32161166;32329246;32350084;32357974;32387766;32488085;32502341;32636443;32870666;32938616;32983136;33141586;33147444;33214551;33298915;33402344;33473107;33556408;33592498;33633747;33744299;33912179;33936100;33968037;33981976;34019948;34140478;34171305;34185709;34229054;34357683;34433824;34513728;34725712;35008409;35051231;35126886;35138101;35251023;35318648;35385574;35561310;35580925;36010968;36198437;36284347;36732624;37770430;37938771;38538804;38665916;40914422;5338216;5666113;7769006;7790358;7958932;7979252;7989588;8094051;8119488;8336698;8662509;8664345;8838651;9199364;9278512;9353119;9354661;9440696;9560246;9676189;9760192;9889122;9926927;9973413;9988689", "class_list": "", "function": "Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways (PubMed:15696159, PubMed:16511572, PubMed:36732624). Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif (PubMed:15696159, PubMed:16511572, PubMed:36732624). Binding generally results in the modulation of the activity of the binding partner (PubMed:16511572). Promotes inactivation of WDR24 component of the GATOR2 complex by binding to phosphorylated WDR24 (PubMed:36732624). Participates in the positive regulation of NMDA glutamate receptor activity by promoting the L-glutamate secretion through interaction with BEST1 (PubMed:29121962). Reduces keratinocyte intercellular adhesion, via interacting with PKP1 and sequestering it in the cytoplasm, thereby reducing its incorporation into desmosomes (PubMed:29678907). Plays a role in mitochondrial protein catabolic process (also named MALM) that promotes the degradation of damaged proteins inside mitochondria (PubMed:22532927)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008]., [RefSeq]; YWHAG promotes colorectal cancer progression by regulating the CTTN-Wnt/beta-catenin signaling 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": 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": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O70457;P35214;Q6FH52;Q9UDP2;Q9UN99", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0005159 insulin-like growth factor receptor binding;GO:0005080 protein kinase C binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0022409 positive regulation of cell-cell adhesion;GO:0002842 positive regulation of T cell mediated immune response to tumor cell;GO:0007165 signal transduction;GO:0032869 cellular response to insulin stimulus;GO:0006469 negative regulation of protein kinase activity", "synthesized_glycan_count": 0, "hit_score": 35.6, "record_id": "P61981-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z6G3-1", "uniprot_id": "NECA2_HUMAN", "mass": 43194.0, "length": 386, "protein_name": "N-terminal EF-hand calcium-binding protein 2", "gene_name": "NECAB2", "organism": "Human", "refseq_name": "N-terminal EF-hand calcium-binding protein 2 isoform 3", "refseq_ac": "NP_001316678", "gene_names_uniprotkb": "NECAB2; EFCBP2", "gene_names_refseq": "EFCBP2; NECAB2; stip-2", "protein_names_uniprotkb": "N-terminal EF-hand calcium-binding protein 2; EF-hand calcium-binding protein 2; Neuronal calcium-binding protein 2; Stip-2; Synaptotagmin-interacting protein 2", "protein_names_refseq": "EF-hand calcium-binding protein 2; N-terminal EF-hand calcium-binding protein 2 isoform 3; neuronal calcium binding 2; neuronal calcium-binding protein 2; synaptotagmin-interacting protein 2", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:54550)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12044471;17689978;19694902;24715725;26843217;30429286;32387766;34509645;35051231;37217939;37722569", "class_list": "", "function": "May act as a signaling scaffold protein that senses intracellular calcium. Can modulate ligand-induced internalization of ADORA2A and coupling efficiency of mGluR5/GRM5; for both receptors may regulate signaling activity such as promoting MAPK1/3 (ERK1/2) activation., [UniProtKB, PubMed, PubMed]; NECAB2 by its physical interaction with mGlu(5b) receptor modulates receptor function, [RefSeq, PubMed]; NECAB2 is an endosomal protein important for striatal function., [RefSeq, PubMed]; Study suggests that the phenotypic segregation of Neuronal calcium-binding protein 1 and -2 (NECAB1 and -2) to respective excitatory and inhibitory spinal systems can underpin functional modalities in determining the fidelity of synaptic neurotransmission and neuronal responsiveness, and might bear translational relevance to humans. Erratum:[Brain Struct Funct. 2016 Sep;221(7):3843. doi: 10.1007/s00429-016-1236-7. PMID: 27206425], [RefSeq, PubMed]; The protein encoded by this gene is a neuronal calcium-binding protein that binds to and modulates the function of at least two receptors, adenosine A(2A) receptor and metabotropic glutamate receptor type 5. [provided by RefSeq, Jul 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2RRG3;H3BTW2;O75547;Q6ZSK0", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0031802 type 5 metabotropic glutamate receptor binding;GO:0005509 calcium ion binding;GO:0031687 A2A adenosine receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030424 axon;GO:0030425 dendrite;GO:0098794 postsynapse", "go_biological_process": "GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0060168 positive regulation of adenosine receptor signaling pathway;GO:0042984 regulation of amyloid precursor protein biosynthetic process;GO:1900451 positive regulation of glutamate receptor signaling pathway;GO:1904021 negative regulation of G protein-coupled receptor internalization", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q7Z6G3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96HD9-1", "uniprot_id": "ACY3_HUMAN", "mass": 35241.0, "length": 319, "protein_name": "N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming)", "gene_name": "ACY3", "organism": "Human", "refseq_name": "N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming)", "refseq_ac": "NP_542389", "gene_names_uniprotkb": "ACY3; ASPA2", "gene_names_refseq": "ACY-3; ACY3; ASPA2; HCBP1", "protein_names_uniprotkb": "N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming); 3.5.1.114; ACY-3; Acylase III; Aminoacylase-3; Aspartoacylase-2; HCBP1; HCV core-binding protein 1; Hepatitis C virus core-binding protein 1", "protein_names_refseq": "HCV core-binding protein 1; N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming); acylase III; aspartoacylase (aminoacylase) 3; aspartoacylase (aminocyclase) 3; aspartoacylase-2; hepatitis C virus core-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:91703); (R-HSA-5423646)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "11237011;11409944;11904223;12144777;12727802;12933810;1504254;16385575;1643250;16970545;18357469;18416522;19463;19486448;2573352;25892735;26375851;26992070;27600516;27846572;28904123;29769354;31844290;32157095;32325220;3372534;33912179;33936100;35051231;35561310;3931076;7764673;7766804;8439558;8703034;8812420;8975785;9278457;9576847", "class_list": "", "function": "Plays an important role in deacetylating mercapturic acids in kidney proximal tubules. Also acts on N-acetyl-aromatic amino acids (By similarity)., [UniProtKB]; Suggest that ACY3 is an HCV core binding protein, which may play a role in the development of HCV-associated 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "3.5.1.114;3.5.1.14", "go_molecular_function": "GO:0004046 aminoacylase activity;GO:0016788 hydrolase activity, acting on ester bonds;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q96HD9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60218-1", "uniprot_id": "AK1BA_HUMAN", "mass": 36020.0, "length": 316, "protein_name": "Aldo-keto reductase family 1 member B10", "gene_name": "AKR1B10", "organism": "Human", "refseq_name": "aldo-keto reductase family 1 member B10", "refseq_ac": "NP_064695", "gene_names_uniprotkb": "AKR1B10; AKR1B11", "gene_names_refseq": "AKR1B10; AKR1B11; AKR1B12; ALDRLn; ARL-1; ARL1; HIS; HSI", "protein_names_uniprotkb": "Aldo-keto reductase family 1 member B10; 1.1.1.300; 1.1.1.54; ARL-1; ARP; Aldose reductase-like; Aldose reductase-related protein; SI reductase; Small intestine reductase; hARP", "protein_names_refseq": "ARP; SI reductase; aldo-keto reductase family 1 member B10; aldo-keto reductase family 1, member B10 (aldose reductase); aldo-keto reductase family 1, member B11 (aldose reductase-like); aldose reductase-like 1; aldose reductase-like peptide; aldose reductase-related protein; hARP; small intestine reductase", "tax_id": 9606, "disease": "", "pathway": " (hsa:57016); (R-HSA-975634)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10052934;10769148;11060341;11181758;11274389;11703436;12365083;12732097;1279089;15358783;1542003;15583000;15755999;16200213;16939223;17525477;17644776;18087047;18295589;18460466;18507396;1856611;19013440;19014918;19139408;19415658;19563777;19608861;20068231;21106934;21585341;21851338;24106281;25802875;27862975;27869121;2793848;29557506;30379171;30833945;32938616;33968037;34171305;35051231;35580925;3714052;37823316;38662158;38718846;38802416;39177716;3942763;4345202;5057882;5675424;6420172;6961410;7683668;8017323;8384721;8728311;9537432;9565553;9765596;9888420;9920938;9925661", "class_list": "", "function": "A Novel lncRNA lncRNA-4045 Promotes the Progression of Hepatocellular Carcinoma by Affecting the Expression of AKR1B10., [RefSeq, PubMed]; AKR1B10 expression characteristics in hepatocellular carcinoma and its correlation with clinicopathological features and immune microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; Aldo-keto Reductase 1B10 Restrains Cell Migration, Invasion, and Adhesion of Gastric Cancer via Regulating Integrin Subunit Alpha 5., [RefSeq, PubMed]; CHES1 modulated tumorigenesis and senescence of pancreas cancer cells through repressing AKR1B10., [RefSeq, PubMed]; Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols (PubMed:12732097, PubMed:18087047, PubMed:19013440, PubMed:19563777, PubMed:9565553). Displays strong enzymatic activity toward all-trans-retinal, 9-cis-retinal, and 13-cis-retinal (PubMed:12732097, PubMed:18087047). Plays a critical role in detoxifying dietary and lipid-derived unsaturated carbonyls, such as crotonaldehyde, 4-hydroxynonenal, trans-2-hexenal, trans-2,4-hexadienal and their glutathione-conjugates carbonyls (GS-carbonyls) (PubMed:19013440, PubMed:19563777). Displays no reductase activity towards glucose (PubMed:12732097)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CircAKR1B10 interacts with EIF4A3 to stabilize AURKA and promotes IL-22-induced proliferation, migration and invasion in keratinocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [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": 3, "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": "A4D1P1;O75890;Q6FHF3;Q8IWZ1", "ec_number_list": "1.1.1.300;1.1.1.-;1.1.1.64;1.1.1.54;1.1.1.216;1.1.1.2;1.6.-.-;1.1.1.19;1.1.1.20;1.1.1.372;1.1.1.21;1.1.1.225;1.1.1.357;1.1.1.62;1.1.1.209;1.1.1.51;1.1.1.210;1.1.1.53;1.1.1.188;1.1.1.239;1.1.1.270;1.1.1.112;1.1.1.149;1.3.1.20", "go_molecular_function": "GO:0004032 aldose reductase (NADPH) activity;GO:0001758 retinal dehydrogenase (NAD+) activity;GO:0008106 alcohol dehydrogenase (NADP+) activity;GO:0045550 geranylgeranyl reductase activity;GO:0047718 indanol dehydrogenase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005764 lysosome", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0044597 daunorubicin metabolic process;GO:0044598 doxorubicin metabolic process;GO:0016488 farnesol catabolic process;GO:0110095 cellular detoxification of aldehyde", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "O60218-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10398-1", "uniprot_id": "ARAF_HUMAN", "mass": 67585.0, "length": 606, "protein_name": "Serine/threonine-protein kinase A-Raf", "gene_name": "ARAF", "organism": "Human", "refseq_name": "serine/threonine-protein kinase A-Raf isoform 2", "refseq_ac": "NP_001243125", "gene_names_uniprotkb": "ARAF; ARAF1; PKS2; PKS", "gene_names_refseq": "A-RAF; ARAF1; ARAF; PKS2; RAFA1", "protein_names_uniprotkb": "Serine/threonine-protein kinase A-Raf; 2.7.11.1; Proto-oncogene A-Raf-1; Proto-oncogene A-Raf; Proto-oncogene Pks", "protein_names_refseq": "A-Raf proto-oncogene serine/threonine-protein kinase; Oncogene ARAF1; Ras-binding protein DA-Raf; proto-oncogene A-Raf-1; proto-oncogene Pks; serine/threonine-protein kinase A-Raf isoform 2; v-raf murine sarcoma 3611 viral oncogene homolog 1; v-raf murine sarcoma 3611 viral oncogene-like protein", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); cancer (Disease Ontology:DOID:162); high grade glioma (Disease Ontology:DOID:3070)", "pathway": " (hsa:369); (R-HSA-5673000); (R-HSA-5674135); (R-HSA-5675221); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9726840); (R-HSA-9726842)", "pathway_count": 12, "publication_count": 266, "publication_id_list": "10205168;10206983;10209122;10409742;10415025;10490027;10702794;10712905;10725339;10757792;10891492;11032810;11325826;11494123;11741534;11756411;11802164;11802165;11952167;12068308;12244094;12473660;12479806;12551923;12583813;12832465;12932319;12932339;14530258;14636584;14724641;14970219;15035987;15118098;15239952;15258589;15260967;15467451;15520807;15543157;15547943;15630448;15664191;15710605;15711535;15851477;15899852;16041367;16093354;16135787;16294014;16364920;16508002;16537381;16630891;16702958;16879721;16892053;16964243;17018604;17081983;17097642;17145850;17178906;17344846;17496912;17535970;17563371;17603482;17603483;17724343;18212344;18220336;18287029;18294816;18332145;18491316;18515281;18547165;18559533;18562239;18662992;18669648;18691976;18767875;18974108;19049963;19091303;19091743;19158341;19219045;19242111;19279408;19415658;19467855;19541618;19651622;19684605;19690332;19691289;19727074;19933846;20052757;20058876;20068231;20130576;20141835;20166139;20179705;20332238;20526349;20674547;20818844;20820846;20858867;21107323;21424530;21441104;21441910;21514245;21639808;21779496;21784453;21993244;22043453;22113612;22177953;22292133;22356324;22395615;22510884;22569528;22589270;22592532;22609986;22730326;22745804;22826437;23105109;23171796;23186163;23288408;23352452;23360980;23453624;23481700;23583981;23614898;23667175;23680146;23863182;23875798;23906342;23934108;23993095;24121058;24121489;24135138;24202393;24211266;24275569;24345920;24347342;24651010;24715725;24746704;24937142;24957944;25137548;25195011;25204415;25313996;25314968;25418920;25435214;25576301;25597358;25645385;25907612;25965804;26154972;26214590;26343583;26929215;26992070;27227380;27264673;27466182;27846572;27862975;27920218;27999210;28082416;28218747;28228285;28289718;28510447;28666118;28832583;28834231;28904123;28939558;28984291;29242379;29393594;29437277;29461827;29467321;29493099;29508533;29557506;29632711;30034615;3029685;30348783;30379171;30794926;31059601;31092671;31108500;31541179;31844290;32357974;32387766;3287375;32938616;33141586;33298915;33592498;33912179;33936100;33968037;34405274;34509645;35051231;3529082;35580925;35613620;35768504;36010968;36284347;36402789;36581221;37572153;7542586;7565670;7565795;7731720;7744815;7929275;7935411;8020955;8051079;8157000;8521512;8521513;8521514;8637718;8876196;8946910;9020159;9234708;9689060;9733512;9823899;9858547", "class_list": "", "function": "ARAF protein kinase activates RAS by antagonizing its binding to RASGAP NF1., [RefSeq, PubMed]; Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May also regulate the TOR signaling cascade. Phosphorylates PFKFB2 (PubMed:36402789)., [UniProtKB, PubMed, PubMed]; Serves as a positive regulator of myogenic differentiation by inducing cell cycle arrest, the expression of myogenin and other muscle-specific proteins, and myotube formation., [UniProtKB, PubMed]; Somatic ARAF mutations in pediatric Langerhans cell histiocytosis: clinicopathologic, genetic and functional profiling., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "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": "P07557;Q5H9B2;Q5H9B3", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;3.6.5.2;2.7.11.-;2.7.11.4;2.7.11.10;2.3.2.27;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;3.1.3.16;2.7.10.4;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;3.6.4.-;3.1.3.53;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;2.7.1.107;2.7.1.94;2.7.1.138;3.6.5.-;2.7.7.-;2.7.7.19;1.14.11.65;3.1.31.1;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0004709 MAP kinase kinase kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0036211 protein modification process;GO:0033138 positive regulation of peptidyl-serine phosphorylation;GO:0043066 negative regulation of apoptotic process;GO:0000165 MAPK cascade;GO:0032006 regulation of TOR signaling", "synthesized_glycan_count": 0, "hit_score": 26.9, "record_id": "P10398-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PC3-1", "uniprot_id": "AP1S3_HUMAN", "mass": 18280.0, "length": 154, "protein_name": "AP-1 complex subunit sigma-3", "gene_name": "AP1S3", "organism": "Human", "refseq_name": "AP-1 complex subunit sigma-3", "refseq_ac": "NP_001034658", "gene_names_uniprotkb": "AP1S3", "gene_names_refseq": "AP1S3; PSORS15; sigma1C", "protein_names_uniprotkb": "AP-1 complex subunit sigma-3; Adaptor protein complex AP-1 subunit sigma-1C; Adaptor-related protein complex 1 subunit sigma-1C; Clathrin assembly protein complex 1 sigma-1C small chain; Golgi adaptor HA1/AP1 adaptin sigma-1C subunit; Sigma 1C subunit of AP-1 clathrin; Sigma-adaptin 1C; Sigma1C-adaptin", "protein_names_refseq": "AP-1 complex subunit sigma-3; adapter-related protein complex 1 subunit sigma-1C; adaptor protein complex AP-1 sigma-1C subunit; adaptor related protein complex 1 sigma 3 subunit; adaptor-related protein complex 1 subunit sigma-1C; clathrin assembly protein complex 1 sigma-1C small chain; golgi adaptor HA1/AP1 adaptin sigma-1C subunit; sigma 1C subunit of AP-1 clathrin", "tax_id": 9606, "disease": "psoriasis 15 (Disease Ontology:DOID:0111281)", "pathway": " (hsa:130340); (R-HSA-164940); (R-HSA-2132295); (R-HSA-432720); (R-HSA-432722)", "pathway_count": 5, "publication_count": 98, "publication_id_list": "10036229;10064083;10072072;10394364;10436028;10480952;10540230;10593899;10631941;10631952;10639150;10748235;10809954;11139587;11237011;11333915;11529500;11590181;11598180;11604418;11684289;11694590;11790530;11813165;11853874;11994746;12078484;12198549;12742663;12748383;14731593;15102850;15569716;15749704;15911768;16155256;16181339;16242130;16618111;16824007;16867982;17116749;17142755;17283181;18046453;18292509;19559397;1956401;19564404;19651769;20230749;20708039;21116285;2121367;21441454;21620353;2190094;2391366;24791904;27079945;28649982;28904123;31844290;32157095;33968037;34367317;35580925;36010968;36215666;7481823;7592972;7650016;7667286;8046351;8134367;8145819;8148318;8313912;8374173;8397411;8415765;8524399;8642258;8670264;8687433;8849454;8909537;8939989;8947036;9075930;9202021;9311912;9312039;9497313;9539769;9545226;9606180;9733768", "class_list": "", "function": "Adaptor Protein Complex 1 Sigma 3 Is Highly Expressed in Glioma and Could Enhance Its Progression. Publication Status: Online-Only, [RefSeq, PubMed]; Study demonstrated that AP1S3 interacts with hepatitis C virus E2 and protects it from proteasome-dependent degradation, [RefSeq, PubMed]; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Involved in TLR3 trafficking (PubMed:24791904)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DQZ1;Q8WTY1;Q96DD1", "ec_number_list": "", "go_molecular_function": "GO:0035615 clathrin adaptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005905 clathrin-coated pit;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:1903232 melanosome assembly;GO:0006886 intracellular protein transport;GO:0006605 protein targeting;GO:0060155 platelet dense granule organization;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q96PC3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48047-1", "uniprot_id": "ATPO_HUMAN", "mass": 23277.0, "length": 213, "protein_name": "ATP synthase peripheral stalk subunit OSCP, mitochondrial", "gene_name": "ATP5PO", "organism": "Human", "refseq_name": "ATP synthase peripheral stalk subunit OSCP, mitochondrial precursor", "refseq_ac": "NP_001688", "gene_names_uniprotkb": "ATP5PO; ATP5O; ATPO", "gene_names_refseq": "ATP5O; ATP5PO; ATPO; HMC08D05; MC5DN7; OSCP", "protein_names_uniprotkb": "ATP synthase peripheral stalk subunit OSCP, mitochondrial; ATP synthase subunit O; OSCP; Oligomycin sensitivity conferral protein", "protein_names_refseq": "ATP synthase peripheral stalk subunit OSCP, mitochondrial precursor; ATP synthase peripheral stalk subunit OSCP, mitochondrial; ATP synthase subunit O, mitochondrial; ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit; human ATP synthase OSCP subunit; oligomycin sensitivity conferral protein oscp-like protein; oligomycin sensitivity conferring protein", "tax_id": 9606, "disease": "mitochondrial complex V (ATP synthase) deficiency nuclear type 7 (Disease Ontology:DOID:0070464); Alzheimer's disease (Disease Ontology:DOID:10652); hypothyroidism (Disease Ontology:DOID:1459); Leigh disease (Disease Ontology:DOID:3652); clear cell renal cell carcinoma (Disease Ontology:DOID:4467)", "pathway": " (hsa:539); (R-HSA-163210); (R-HSA-8949613); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 137, "publication_id_list": "11237011;11923310;12110673;12198491;12665801;14623864;15522782;15870080;16115876;17101804;17121862;17297443;17510655;17579211;17624330;18323778;19608861;19841671;20068231;20833715;21654843;21836051;22114354;22252321;22262461;22710082;22864911;23201127;23481700;23931759;24098383;24315374;24520911;24687277;25285856;25418920;25505266;25576301;25764979;25781180;25810538;25892735;25997101;26154972;26375851;26416881;26477565;26504172;26530328;26923599;26968360;26992070;27452731;27479602;27485409;27496948;27623147;27642048;27846572;27862975;27920218;28228285;28377575;28396416;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29301859;29393594;29508533;29557506;29632046;29632711;29786170;29789417;29932645;30120231;30192525;30315122;30524438;30833945;31154438;31217245;31327635;31530632;31611695;31695197;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32502341;32897882;32938616;33141586;33257573;33298915;33392160;33592498;33717175;33912179;33936100;33981976;34171305;34211107;34509645;34561969;34704252;34943861;34954817;35051231;35138101;35251023;35414767;35621276;35870450;36215666;36241641;36284347;36629048;37217939;37244256;37938771;38297121;38665916;40914422;4517936;7490082;7623837", "class_list": "", "function": "A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families., [RefSeq, PubMed]; Claudin-10 overexpression suppresses human clear cell renal cell carcinoma growth and metastasis by regulating ATP5O and causing mitochondrial dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; Human mitochondrial F(1)F(0) ATP synthase was isolated with a one-step immunological approach., [RefSeq, PubMed]; Subunit OSCP, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro (By similarity). Part of the complex F(0) domain (PubMed:37244256). Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4E2;Q5U042;Q6IBI2", "ec_number_list": "", "go_molecular_function": "GO:0016887 ATP hydrolysis activity;GO:0044877 protein-containing complex binding;GO:0046933 proton-transporting ATP synthase activity, rotational mechanism;GO:1903924 estradiol binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0071320 cellular response to cAMP;GO:0006754 ATP biosynthetic process;GO:0071345 cellular response to cytokine stimulus;GO:0015986 proton motive force-driven ATP synthesis;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "P48047-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7L4P6-1", "uniprot_id": "BEND5_HUMAN", "mass": 48182.0, "length": 421, "protein_name": "BEN domain-containing protein 5", "gene_name": "BEND5", "organism": "Human", "refseq_name": "BEN domain-containing protein 5 isoform 2", "refseq_ac": "NP_001289011", "gene_names_uniprotkb": "BEND5; C1orf165", "gene_names_refseq": "BEND5; C1orf165", "protein_names_uniprotkb": "BEN domain-containing protein 5", "protein_names_refseq": "BEN domain-containing protein 5 isoform 2; BEN domain-containing protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:79656)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "19608861;23468431;25755297;28411811;29557506;32157095;35844785", "class_list": "", "function": "Acts as a transcriptional repressor (PubMed:23468431)., [UniProtKB, PubMed]; Interaction between BEND5 and RBPJ suppresses breast cancer growth and metastasis via inhibiting Notch 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": 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": "D3DQ27;Q96A62;Q9HAI3", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q7L4P6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P46937-1", "uniprot_id": "YAP1_HUMAN", "mass": 54462.0, "length": 504, "protein_name": "Transcriptional coactivator YAP1", "gene_name": "YAP1", "organism": "Human", "refseq_name": "transcriptional coactivator YAP1 isoform 1", "refseq_ac": "NP_001123617", "gene_names_uniprotkb": "YAP1; YAP65", "gene_names_refseq": "COB1; YAP-1; YAP1; YAP2; YAP65; YAP; YKI", "protein_names_uniprotkb": "Transcriptional coactivator YAP1; Protein yorkie homolog; Yes-associated protein 1; Yes-associated protein YAP65 homolog", "protein_names_refseq": "65 kDa Yes-associated protein; Yes associated protein 1; protein yorkie homolog; transcriptional coactivator YAP1 isoform 1; transcriptional coactivator YAP1; yes-associated protein 2; yes-associated protein YAP65 homolog; yorkie homolog", "tax_id": 9606, "disease": "cone dystrophy (Disease Ontology:DOID:0050795); uveal coloboma-cleft lip and palate-intellectual disability (Disease Ontology:DOID:0111249); intestinal cancer (Disease Ontology:DOID:10155); heart disease (Disease Ontology:DOID:114); coloboma (Disease Ontology:DOID:12270); neurodegenerative disease (Disease Ontology:DOID:1289); cancer (Disease Ontology:DOID:162); ovarian cancer (Disease Ontology:DOID:2394); carcinoma (Disease Ontology:DOID:305); nephrolithiasis (Disease Ontology:DOID:585); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:10413); (R-HSA-1251985); (R-HSA-2028269); (R-HSA-2032785); (R-HSA-8939236); (R-HSA-8940973); (R-HSA-8951671); (R-HSA-9619665); (R-HSA-9725554); (R-HSA-9796292); (R-HSA-9819196); (R-HSA-9860927); (R-HSA-9909649); (R-HSA-9925563)", "pathway_count": 14, "publication_count": 499, "publication_id_list": "10.1101/2023.09.13.557529;10203854;10220111;10228168;10400691;10441331;10587520;10727776;10757804;10856243;11106645;11115854;11118213;11133365;11157804;11237011;11278283;11356866;11394999;11430795;11430802;11545733;11679632;11687614;11734543;11743730;11782409;11847229;12056842;12067728;12145339;12198163;12231506;12391164;12529404;12535517;12624109;12782656;12799134;12807903;14512514;14522948;14664827;14765127;15023535;15109305;15140226;15150276;15189448;15234001;15356632;15534001;15556625;15610069;15675955;15678106;15688006;15695336;15780751;15836632;15907797;16025100;16061658;16099986;16136673;16297201;16311519;16319321;16332960;16373334;16461361;16751105;16772533;16912174;16923174;16930133;17018285;1704008;17081983;17085597;17325040;17330888;17502622;17525332;17535448;17699610;17959798;17974916;18158288;18227151;18280240;18328708;18369314;18477452;18579750;18634568;18640976;18653779;18669648;18701449;18725387;18803322;19047365;19088198;19143832;19156870;19321787;19324876;19324877;19389811;19596786;19745155;1975954;19801668;19878874;19922439;19924134;20048001;20068231;20110263;20123905;20123908;20149798;20153295;20213556;20412773;20625412;20686481;20729916;20823509;20832498;20850437;20868367;20877012;20887958;21044070;21145499;21173110;21187284;21205866;21214929;21224387;21233212;21326363;21364637;21406692;21411665;21423190;21423191;21555462;21571218;21613327;21653862;21685363;21730131;21741376;21832154;21909427;21945154;22012064;22053691;22180461;22209328;22329991;22333914;22492709;22525271;22614006;22658639;22735594;22761457;22764250;22814607;22863277;22884261;22897851;22939869;23186163;23230144;23283814;23431053;23593160;23629652;23695165;23708000;23727052;23747866;23857250;23873930;23874858;23928732;23934149;24040060;24101154;24191038;24227709;24275569;24278031;24308844;24356468;24462371;24509725;24525530;24621512;24646194;24675079;24715453;24794495;24829397;25043025;25180175;25317030;25393475;25394790;25576301;25601544;25645385;25751139;25751140;25778702;25849865;25865393;25974668;26056182;26265440;26269582;26340985;26360614;26364597;26364602;26417066;26423937;26441514;26567630;26598551;26625308;26625714;26768311;26806348;26843620;26876920;26951377;26967290;26967905;27000077;27009203;27030211;27034169;27062923;27065882;27137657;27144834;27184927;27203549;27205883;27206784;27220739;27288457;27324437;27334574;27336605;27380321;27409837;27428284;27457617;27462448;27476430;27488962;27555231;27556512;27566107;27600516;27634386;27669292;27797343;27846572;27859941;27869121;27871934;27907036;27911857;27979971;28065575;28076850;28098159;28102225;28169360;28239148;28332498;28339095;28376152;28406163;28420424;28454447;28459456;28459457;28464980;28470935;28474680;28481329;28671675;28708445;28725753;28745364;28757481;28815883;28827520;28852375;28923839;28951205;28969054;29066438;29069755;29093443;29100056;29136529;29154888;29212185;29228705;29296196;29339449;29400695;29487715;29496737;29535383;29557506;29562176;29695716;29709009;29725063;29748249;29758328;29786170;29891922;29895829;29903769;29909276;29930727;30037330;30139767;30143543;30250159;30272278;30385408;30404014;30429286;30446657;30447097;30466467;30504771;30559289;30565133;30566960;30574018;30618636;30620550;30631061;30779550;30824374;30833665;30865227;30905808;30935014;30948712;31015465;31076104;31100067;31139191;31142342;31145543;31160567;31208368;31222486;31296870;31307004;31373491;31399284;31408443;31455378;31477715;31487690;31530632;31619268;31627466;31630170;31649888;31659153;31669263;31690112;31693448;31717606;31788086;31827075;31835537;31835563;31840817;31844290;31848261;31926547;31963871;32037480;32054505;32157095;32161166;32183950;32205868;32210573;32210629;32219176;32231000;32271880;32322664;32365528;32457342;32483419;32488085;32493454;32589311;32673515;32707998;32711570;32848033;32860047;32894161;32938616;33014146;33032653;33097058;33218077;33277245;33416116;33420363;33504879;33571521;33592498;33628300;33672268;33707576;33777675;33897873;33897882;33937255;33981976;34019948;34155345;34206989;34267371;34343153;34343821;34404733;34405274;35015027;35051231;35103997;35254053;35358489;35402882;35580925;35586495;35705994;35713503;36074823;36115593;36241641;36284347;36374802;37340703;37350405;38512451;38665916;39154884;39271776;39283755;39285230;39319536;39472558;39534244;7782338;7891679;7925941;7935840;8138712;8349731;8619637;8627307;8647822;8662541;8702870;8842374;9182762;9202023;9418958;9482253;9545236;9584153;9651244;9705348;9748295;9858769", "class_list": "", "function": "Activates the C-terminal fragment (CTF) of ERBB4 (isoform 3)., [UniProtKB, PubMed]; Arp2/3 complex activity enables nuclear YAP for naive pluripotency of human embryonic stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; HPV-YAP1 oncogenic alliance drives malignant transformation of fallopian tube epithelial cells., [RefSeq, PubMed]; The RNA helicase DDX21 activates YAP to promote tumorigenesis and is transcriptionally upregulated by beta-catenin in colorectal cancer., [RefSeq, PubMed]; The expression of YAP1 and other transcription factors contributes to lineage plasticity in combined small cell lung carcinoma., [RefSeq, PubMed]; This gene encodes a downstream nuclear effector of the Hippo signaling pathway which is involved in development, growth, repair, and homeostasis. This gene is known to play a role in the development and progression of multiple cancers as a transcriptional regulator of this signaling pathway and may function as a potential target for cancer treatment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2013]., [RefSeq]; Transcriptional regulator with dual roles as a coactivator and corepressor. Critical downstream regulatory target in the Hippo signaling pathway, crucial for organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:17974916, PubMed:18280240, PubMed:18579750, PubMed:21364637, PubMed:30447097). The Hippo signaling pathway core involves a kinase cascade featuring STK3/MST2 and STK4/MST1, along with its regulatory partner SAV1, which phosphorylates and activates LATS1/2 in complex with their regulatory protein, MOB1. This activation leads to the phosphorylation and inactivation of the YAP1 oncoprotein and WWTR1/TAZ (PubMed:18158288). Phosphorylation of YAP1 by LATS1/2 prevents its nuclear translocation, thereby regulating the expression of its target genes (PubMed:18158288, PubMed:26598551, PubMed:34404733). The transcriptional regulation of gene expression requires TEAD transcription factors and modulates cell growth, anchorage-independent growth, and induction of epithelial-mesenchymal transition (EMT) (PubMed:18579750). Plays a key role in tissue tension and 3D tissue shape by regulating the cortical actomyosin network, acting via ARHGAP18, a Rho GTPase activating protein that suppresses F-actin polymerization (PubMed:25778702). It also suppresses ciliogenesis by acting as a transcriptional corepressor of TEAD4 target genes AURKA and PLK1 (PubMed:25849865). In conjunction with WWTR1, regulates TGFB1-dependent SMAD2 and SMAD3 nuclear accumulation (By similarity). Synergizes with WBP2 to enhance PGR activity (PubMed:16772533)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 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": 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": 51, "reported_mutagensis": 30, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 2, "disease_count": 11, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B4DTY1;B7ZA01;E3WEB5;E3WEB6;E9PRV2;F5H202;K0KQ18;K0KYZ8;K0L195;K0L1G3;Q7Z574;Q8IUY9", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0003714 transcription corepressor activity;GO:0070064 proline-rich region binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1902018 negative regulation of cilium assembly;GO:0061026 cardiac muscle tissue regeneration;GO:1904036 negative regulation of epithelial cell apoptotic process;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 50.9, "record_id": "P46937-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P22681-1", "uniprot_id": "CBL_HUMAN", "mass": 99633.0, "length": 906, "protein_name": "E3 ubiquitin-protein ligase CBL", "gene_name": "CBL", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase CBL", "refseq_ac": "NP_005179", "gene_names_uniprotkb": "CBL; CBL2; RNF55", "gene_names_refseq": "C-CBL; CBL2; CBL; FRA11B; NSLL; RNF55", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase CBL; 2.3.2.27; Casitas B-lineage lymphoma proto-oncogene; Proto-oncogene c-Cbl; RING finger protein 55; RING-type E3 ubiquitin transferase CBL; Signal transduction protein CBL", "protein_names_refseq": "Cas-Br-M (murine) ecotropic retroviral transforming sequence; Cbl proto-oncogene, E3 ubiquitin protein ligase; E3 ubiquitin-protein ligase CBL; RING finger protein 55; RING-type E3 ubiquitin transferase CBL; casitas B-lineage lymphoma proto-oncogene; fragile site, folic acid type, rare, fra(11)(q23.3); oncogene CBL2; proto-oncogene c-Cbl; signal transduction protein CBL", "tax_id": 9606, "disease": "juvenile myelomonocytic leukemia (Disease Ontology:DOID:0050458); myeloid neoplasm (Disease Ontology:DOID:0070004); myeloproliferative neoplasm (Disease Ontology:DOID:2226); transient cerebral ischemia (Disease Ontology:DOID:224); osteosarcoma (Disease Ontology:DOID:3347); Noonan syndrome (Disease Ontology:DOID:3490); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hyperglycemia (Disease Ontology:DOID:4195); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744); CBL-related disorder (MONDO:MONDO:0013308)", "pathway": " (hsa:867); (R-HSA-1059683); (R-HSA-1236382); (R-HSA-1295596); (R-HSA-1433559); (R-HSA-182971); (R-HSA-2173789); (R-HSA-5637810); (R-HSA-5654726); (R-HSA-5654727); (R-HSA-5654732); (R-HSA-5654733); (R-HSA-6807004); (R-HSA-8849469); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8875360); (R-HSA-912631); (R-HSA-9680350); (R-HSA-9706369); (R-HSA-9706377)", "pathway_count": 21, "publication_count": 600, "publication_id_list": "10078535;10092522;10097102;10374881;10436022;10449770;10514377;10535736;10542231;10559856;10559861;10559924;10567358;10579907;10613896;10625686;10635327;10648629;10652316;10766823;10769163;10777583;10799548;10851062;10887178;10953014;10966114;10983987;11024037;11053437;11067845;11071885;11076969;11081636;11082044;11087732;11100470;11121117;11141505;11231140;11237011;11238463;11239464;11239472;11247302;11279012;11297579;11390472;11454741;11463336;11470803;11516654;11517213;11532990;11577110;11588219;11687594;11696592;11698404;11741535;11823423;11850825;11877457;11877461;11889126;11894095;11894096;11896602;11919637;11927540;11988742;11994282;11994499;11997436;11997497;12024036;12057195;12072436;12086608;12213833;12218189;12221107;12234920;12234931;12244174;12391162;12419216;12429842;12435267;12444928;12447393;12451172;12464600;12471035;12475979;12482908;12483717;12486104;12504111;12522270;12551915;12593795;12593796;12627230;12686592;12717448;12815057;12829785;12847086;12881521;12882960;12944396;12944901;12952949;12958364;12974390;1317852;1333888;1334462;14505571;14555962;14581451;14615606;14617351;14622578;14622579;14661060;14662753;14718169;14726597;14739300;14985334;15021893;15031289;15077177;15117950;15118073;15118125;15123609;15134832;15144186;15190072;15226403;15252009;15260957;15284455;15318165;15324302;15329413;15339664;15350224;1535555;15465819;15473838;15475003;15502812;15502813;15526160;15539407;15548653;15556646;15564041;15564375;15581361;15592455;15637081;15649145;15671180;15701692;15703209;15728179;15802264;15828871;15895077;15916959;15922744;15951569;15958209;15962011;16024644;16094384;16103228;16113677;16129412;16159959;16187797;16215232;16227611;16326391;16407834;16410077;16459302;16460808;16479008;16497976;16516836;16684964;16707488;16723738;16764984;16777603;16780420;16798879;16849543;16868551;16880396;1689311;16893902;16903783;16953218;16964243;16969069;17018281;17035995;17094949;17110436;17158794;17177598;17178829;17202354;17255109;17267500;17349580;17360967;17372273;17389395;17446348;17456551;17475912;17494869;17509076;17512409;17522231;17540576;17609109;17620338;17646646;17662939;17681954;17699773;17712310;17713526;17762867;17765681;17904548;17974561;17978091;17993263;18032517;18034775;18093523;18166656;18192505;18199683;18235045;18374639;18388313;18452557;18467591;18469808;1847920;18519587;18588518;18669648;18698078;18775314;18790740;18819912;18819921;18981233;18985070;19054389;19092055;19109251;19140243;19276253;19287005;19296720;19458185;19536138;19560417;19575674;19603039;19652666;1968060;19689429;19690147;19690332;19696444;19696796;19696798;19713939;19720988;19732400;19776351;19809571;19814798;19836242;19853559;19900460;19901323;20033049;20033059;20058876;20059951;20068231;20094046;20117945;20211604;20231386;2030914;20351096;20428113;20448150;20489731;20494825;20554524;20606012;20619386;20622007;20625381;20674974;20826345;20940296;20946875;20966921;21049007;21072051;21102408;2115402;21187331;21262971;21278753;21316588;21376233;21445324;21482805;21499258;21596750;21613550;21779028;21841790;21883765;21927000;21927001;2196173;21962517;21995445;22099461;22118466;22131879;22153499;22233676;22266821;22357968;22424782;22438257;22483114;22484487;22505844;22544926;2257624;2261637;22815487;22863004;22880054;22942183;22942912;22952242;23186163;23208509;23290524;23297414;23300935;23301498;23352614;23376399;23536704;23548639;23606532;23707526;23774213;23823722;23845085;23861397;23874206;23891661;24130457;24186068;24384571;24457597;24523872;24581490;24680432;24705897;24715725;2472219;24746795;24789820;24828152;24890514;24966051;25000980;25019382;25107275;25178484;25263444;25301722;25303366;25341920;25418920;25502872;25576301;25645385;25880248;25939664;26024233;26029847;26042225;26154972;26235028;26308771;26403691;26811146;26829388;26848865;26992070;27050377;27458164;27600516;27666490;27846572;2788034;27920218;28086240;28218747;28381567;28580691;28611190;28657654;28832583;28904123;2890644;29053960;29237092;29237719;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29880609;30059200;30118682;30181811;30192525;30315122;30379171;30429286;30620550;31066629;31120930;31217245;31373491;31492838;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32306778;32357974;32387766;32502341;32574038;32897882;32938616;32938750;32983136;33214551;33298915;33314148;33592498;33627783;33633747;33717175;33912179;33968037;33981976;34019948;34062268;3417785;34357683;34405274;34509645;34561969;35051231;35132862;35138101;35254053;35494241;35513511;35580925;35705054;36010968;36240223;36284347;37340703;37541260;37938771;38665916;38745188;38761804;38838015;39531497;39534244;40101708;40307207;6146630;7520444;7535773;7537740;7539802;7541030;7542744;7569928;7597091;7657591;7681396;7684496;7693660;7701321;7737969;7737999;7812050;7822302;7871433;7877694;8036006;8047140;8083187;8134389;8140422;8242743;8272873;8355686;8493579;8524328;8524399;8530489;8552632;8553074;8621719;8626543;8649859;8662591;8662795;8837779;8947046;8980228;8981370;8995358;9092476;9100026;9108479;9160881;9169477;9200440;9225065;9233797;9259313;9285712;9303539;9311995;9346966;9382798;9407100;9414268;9427626;9428629;9525940;9528781;9535867;9590251;9630226;9635431;9723620;9730987;9736607;9794795;9812899;9865696;9890970;9989826", "class_list": "", "function": "Deficiency of CBL and CBLB ubiquitin ligases leads to hyper T follicular helper cell responses and lupus by reducing BCL6 degradation., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that acts as a negative regulator of many signaling pathways by mediating ubiquitination of cell surface receptors (PubMed:10514377, PubMed:11896602, PubMed:14661060, PubMed:14739300, PubMed:15190072, PubMed:17509076, PubMed:18374639, PubMed:19689429, PubMed:21596750, PubMed:28381567, PubMed:40101708). Accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome (PubMed:10514377, PubMed:14661060, PubMed:14739300, PubMed:17094949, PubMed:17509076, PubMed:17974561). Recognizes activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, CSF1R, EPHA8 and KDR and mediates their ubiquitination to terminate signaling (PubMed:15190072, PubMed:18374639, PubMed:21596750). Recognizes membrane-bound HCK, SRC and other kinases of the SRC family and mediates their ubiquitination and degradation (PubMed:11896602). Ubiquitinates EGFR and SPRY2 (PubMed:17094949, PubMed:17974561). Involved in LAG3-mediated inhibition of TCR signaling: following ligand-binding to LAG3, catalyzes 'Lys-63'-linked ubiquitination of LAG3, unleashing the LAG3 C-terminus from the membrane, and initiating a signaling that prevents TCR activation (PubMed:40101708). Ubiquitinates NECTIN1 following association between NECTIN1 and herpes simplex virus 1/HHV-1 envelope glycoprotein D, leading to NECTIN1 removal from cell surface (PubMed:28381567). Participates in signal transduction in hematopoietic cells. Plays an important role in the regulation of osteoblast differentiation and apoptosis (PubMed:15190072, PubMed:18374639). Essential for osteoclastic bone resorption (PubMed:14739300). The 'Tyr-731' phosphorylated form induces the activation and recruitment of phosphatidylinositol 3-kinase to the cell membrane in a signaling pathway that is critical for osteoclast function (PubMed:14739300). In association with CBLB, required for proper feedback inhibition of ciliary platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway via ubiquitination and internalization of PDGFRA (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; PSMD9 promotes the malignant progression of hepatocellular carcinoma by interacting with c-Cbl to activate EGFR signaling and recycling. Erratum:[J Exp Clin Cancer Res. 2024 Oct 18;43(1):287. doi: 10.1186/s13046-024-03209-2. PMID: 39420369] Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 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": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 37, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 77, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 16, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A3KMP8", "ec_number_list": "2.7.1.153;2.7.1.137;2.7.1.154;2.7.11.1;3.1.3.86;2.7.10.2;3.1.3.-;2.7.10.1;3.6.4.10;5.6.1.6;3.1.4.11;3.6.5.2;2.3.2.27;3.1.3.48;2.7.11.30;3.6.5.5;3.6.4.-;2.3.2.34;2.3.2.23;3.1.3.16;3.1.3.56;3.1.3.36", "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0008270 zinc ion binding;GO:0017124 SH3 domain binding;GO:0046875 ephrin receptor binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0005929 cilium", "go_biological_process": "GO:0007165 signal transduction;GO:0010332 response to gamma radiation;GO:0042594 response to starvation;GO:0043066 negative regulation of apoptotic process;GO:0045471 response to ethanol", "synthesized_glycan_count": 0, "hit_score": 61.6, "record_id": "P22681-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95630-1", "uniprot_id": "STABP_HUMAN", "mass": 48077.0, "length": 424, "protein_name": "STAM-binding protein", "gene_name": "STAMBP", "organism": "Human", "refseq_name": "STAM-binding protein isoform 1", "refseq_ac": "NP_006454", "gene_names_uniprotkb": "STAMBP; AMSH", "gene_names_refseq": "AMSH; MICCAP; STAMBP", "protein_names_uniprotkb": "STAM-binding protein; 3.4.19.-; Associated molecule with the SH3 domain of STAM; Endosome-associated ubiquitin isopeptidase", "protein_names_refseq": "STAM-binding protein isoform 1; associated molecule with the SH3 domain of STAM; endosome-associated ubiquitin isopeptidase; testicular secretory protein Li 54", "tax_id": 9606, "disease": "microcephaly-capillary malformation syndrome (MONDO:MONDO:0013659)", "pathway": " (hsa:10617); (R-HSA-5689901)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10383417;11237011;11483516;12353037;12370088;14755250;15314065;17146056;17261583;17707232;18758443;19202061;19906316;23186163;23246432;23301498;23481700;23542699;24715725;25418920;25576301;25645385;25880248;26375851;26929215;26992070;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29632711;30192525;30410026;31217245;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33592498;33717175;33912179;33968037;34171305;34357683;34425109;34509645;35051231;35154160;35251023;36010968;36089485;36309616;36434041;39242557", "class_list": "", "function": "Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Identification of STAM-binding protein as a target for the treatment of gemcitabine resistance pancreatic cancer in a nutrient-poor microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; STAM binding protein regulated by hsa_circ_0007334 exerts oncogenic potential in pancreatic cancer., [RefSeq, PubMed]; The deubiquitinating enzyme STAMBP is a newly discovered driver of triple-negative breast cancer progression that maintains RAI14 protein stability., [RefSeq, PubMed]; The expression and clinical significance of STAMBP in breast cancer., [RefSeq, PubMed]; Zinc metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains (PubMed:15314065, PubMed:23542699, PubMed:34425109). Does not cleave 'Lys-48'-linked polyubiquitin chains (PubMed:15314065). Plays a role in signal transduction for cell growth and MYC induction mediated by IL-2 and GM-CSF (PubMed:10383417). Potentiates BMP (bone morphogenetic protein) signaling by antagonizing the inhibitory action of SMAD6 and SMAD7 (PubMed:11483516). Has a key role in regulation of cell surface receptor-mediated endocytosis and ubiquitin-dependent sorting of receptors to lysosomes (PubMed:15314065, PubMed:17261583). Endosomal localization of STAMBP is required for efficient EGFR degradation but not for its internalization (PubMed:15314065, PubMed:17261583). Involved in the negative regulation of PI3K-AKT-mTOR and RAS-MAP signaling pathways (PubMed:23542699)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Zinc metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Does not cleave 'Lys-48'-linked polyubiquitin chains. Plays a role in signal transduction for cell growth and MYC induction mediated by IL-2 and GM-CSF. Potentiates BMP (bone morphogenetic protein) signaling by antagonizing the inhibitory action of SMAD6 and SMAD7. Has a key role in regulation of cell surface receptor-mediated endocytosis and ubiquitin-dependent sorting of receptors to lysosomes. Endosomal localization of STAMBP is required for efficient EGFR degradation but not for its internalization. Involved in the negative regulation of PI3K-AKT-mTOR and RAS-MAP signaling pathways., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "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": "B5M0B6;D6W5H7;Q3MJE7", "ec_number_list": "3.4.19.-", "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0046872 metal ion binding;GO:0061578 K63-linked deubiquitinase activity;GO:0101005 deubiquitinase activity;GO:0140492 metal-dependent deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0046580 negative regulation of Ras protein signal transduction;GO:0006508 proteolysis;GO:0008284 positive regulation of cell population proliferation;GO:0016579 protein deubiquitination;GO:0070536 protein K63-linked deubiquitination", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "O95630-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P38159-1", "uniprot_id": "RBMX_HUMAN", "mass": 42332.0, "length": 391, "protein_name": "RNA-binding motif protein, X chromosome", "gene_name": "RBMX", "organism": "Human", "refseq_name": "RNA-binding motif protein, X chromosome isoform 2", "refseq_ac": "NP_001158275", "gene_names_uniprotkb": "RBMX; HNRPG; RBMXP1", "gene_names_refseq": "HNRNPG; HNRPG; MRXS11; MRXSG; MRXSH; RBMXRT; RBMX; RNMX; hnRNP-G", "protein_names_uniprotkb": "RNA-binding motif protein, X chromosome; Glycoprotein p43; Heterogeneous nuclear ribonucleoprotein G; hnRNP G", "protein_names_refseq": "RNA-binding motif protein, X chromosome isoform 2; RNA-binding motif protein, X chromosome; glycoprotein p43; heterogeneous nuclear ribonucleoprotein G; hnRNP G", "tax_id": 9606, "disease": "syndromic X-linked intellectual disability Shashi type (Disease Ontology:DOID:0060826); X-linked mental retardation Gustavson type (Disease Ontology:DOID:0081123)", "pathway": " (hsa:27316); (R-HSA-72163); (R-HSA-72203); (R-HSA-9013418); (R-HSA-9013422); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 10, "publication_count": 266, "publication_id_list": "10.1101/2023.09.13.557529;10332027;10664463;10669729;10882114;11014198;11060040;11101529;11233976;11237011;11420617;11747608;11784792;11940653;11991638;12165565;12176931;12244061;12411573;12414731;12477934;12761049;12842009;14519844;14625303;14713954;14732713;14749727;14762106;15037765;15084397;15107402;15302935;15565158;15738000;16314458;16481321;16707624;16809785;16964243;17081983;17095540;17128255;17287340;17322306;17332742;17606899;17890166;17924679;18212344;18288197;18322460;18445477;18452278;18541147;18593880;18669648;18767875;18835386;18996843;19103606;19103666;19136556;19165350;19217410;19282290;19413330;19415658;19536130;19608861;19651622;19664994;19664995;19690332;20058876;20068230;20068231;20166139;20305658;20423332;20695905;20811643;20980672;21295486;21327109;21406692;21536652;21740066;2176635;21911577;22110043;22121020;22365833;22813749;22959432;22961380;22967762;23186163;23222130;23236153;23345524;23874216;24029068;24076191;24149845;24196718;24304693;24316715;24407421;24448447;24608665;24690281;24714562;24715725;24737827;24914973;24981863;25218447;25256757;25301780;25301781;25418920;25505266;25555158;25576301;2558966;25678563;25755297;25772364;25880248;25888806;25892735;26092250;26154972;26385511;26420826;26929215;26969432;26969736;26992070;27108190;27314390;27377154;27459055;27683217;27846572;27862975;27941885;28062851;28063628;28076346;28096519;28502770;28510447;28781166;28832583;28904123;28911096;29186539;29242379;29274231;29301961;29331515;29360106;29361316;29393594;29493099;29557506;29632046;29632711;2963332;29902443;30139799;30192525;30257008;30315122;30315277;30429286;30524438;30599162;30705154;30728453;30765414;30779550;30896450;30975767;31154438;31222486;31373491;31409651;31431478;31844290;31848261;31871319;31998317;32119511;32157095;32179686;32329775;32357974;32387766;32494006;32502341;32522876;32816001;32938616;32983136;33091337;33123756;33177556;33214551;33243851;33392160;33446560;33465208;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34301950;34725712;34822310;34932366;35051231;35177536;35215846;35251023;35318648;35385551;35561310;35580925;36284347;36466711;36581221;37277488;3757028;37756323;37938771;38214653;38293971;38665916;39990658;40596516;40914422;7692398;8352591;8566756;8608946;8649376;9016565;9242493;9409616;9512519;9524131;9531558;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "Aberrant RBMX expression is relevant for cancer prognosis and immunotherapy response., [RefSeq, PubMed]; Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions., [RefSeq, PubMed]; RBMX involves in telomere stability maintenance by regulating TERRA expression. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding protein that plays several role in the regulation of pre- and post-transcriptional processes. Implicated in tissue-specific regulation of gene transcription and alternative splicing of several pre-mRNAs. Binds to and stimulates transcription from the tumor suppressor TXNIP gene promoter; may thus be involved in tumor suppression. When associated with SAFB, binds to and stimulates transcription from the SREBF1 promoter. Associates with nascent mRNAs transcribed by RNA polymerase II. Component of the supraspliceosome complex that regulates pre-mRNA alternative splice site selection. Can either activate or suppress exon inclusion; acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN2. Represses the splicing of MAPT/Tau exon 10. Binds preferentially to single-stranded 5'-CC[A/C]-rich RNA sequence motifs localized in a single-stranded conformation; probably binds RNA as a homodimer. Binds non-specifically to pre-mRNAs. Also plays a role in the cytoplasmic TNFR1 trafficking pathways; promotes both the IL-1-beta-mediated inducible proteolytic cleavage of TNFR1 ectodomains and the release of TNFR1 exosome-like vesicles to the extracellular compartment., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The Role of Alternative Splicing Factors hnRNP G and Fox-2 in the Progression and Prognosis of Esophageal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009]., [RefSeq]; [RBMX overexpression inhibits proliferation, migration, invasion and glycolysis of human bladder cancer cells by downregulating PKM2]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 26, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4E3U4;D3DWH0;E9PG86;Q5JQ67;Q8N8Y7;Q969R3", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0048026 positive regulation of mRNA splicing, via spliceosome;GO:0006509 membrane protein ectodomain proteolysis;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051260 protein homooligomerization;GO:0048025 negative regulation of mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 27.5, "record_id": "P38159-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H8Y8-1", "uniprot_id": "GORS2_HUMAN", "mass": 47145.0, "length": 452, "protein_name": "Golgi reassembly-stacking protein 2", "gene_name": "GORASP2", "organism": "Human", "refseq_name": "Golgi reassembly-stacking protein 2 isoform 2", "refseq_ac": "NP_001188357", "gene_names_uniprotkb": "GORASP2; GOLPH6", "gene_names_refseq": "GOLPH6; GORASP2; GRASP55; GRS2; p59", "protein_names_uniprotkb": "Golgi reassembly-stacking protein 2; GOLPH6; GRASP55; GRS2; Golgi phosphoprotein 6; Golgi reassembly-stacking protein of 55 kDa; p59", "protein_names_refseq": "Golgi reassembly-stacking protein 2 isoform 2; Golgi reassembly-stacking protein 2; golgi phosphoprotein 6; golgi reassembly stacking protein 2, 55kDa", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:26003); (R-HSA-162658)", "pathway_count": 2, "publication_count": 130, "publication_id_list": "10487747;10679020;11101516;11237011;11238451;11285137;11306556;11408587;11447294;11739401;11739402;11815631;12695496;12839990;15678101;16533948;16964243;17081983;17182854;17287340;17607000;18167358;18385516;18434598;18452278;18669648;18767875;1902553;19361449;19413330;19415658;19651622;19651986;19664994;19664995;19690332;20068231;20083603;20214750;20937827;21515684;21884936;22523075;22726585;23186163;23301498;23481700;24275569;24715725;25255805;25502872;25576301;25807930;27062250;27726376;27920218;28067262;28218747;28228285;28467828;28657654;28832583;28834231;28904123;29242379;29351928;29437277;29493099;29508533;29557506;29632711;29689198;29786170;30315122;30429286;30524438;30573663;30620550;30833945;31154438;31530632;31611695;31844290;31848261;31998317;32119511;32161166;32350084;32502341;32574038;32897882;32938616;33141586;33214551;33298915;33392160;33592498;33717175;33936100;33968037;34019948;34078123;34087483;34171305;34357683;34405274;34433824;34725712;34932366;35051231;35138101;35154160;35251023;35312866;35580925;35705054;36010968;36241641;36580660;37074911;37373263;38253038;38665916;38838015;39531497;39534244;40596516;7737117;9150144;9753325", "class_list": "", "function": "GRASP depletion-mediated Golgi fragmentation impairs glycosaminoglycan synthesis, sulfation, and secretion. Publication Status: Online-Only, [RefSeq, PubMed]; GRASP55 forms an effector complex for the small GTPase rab2, together with a conserved coiled-coil protein golgin-45 (JEM-1)., [RefSeq, PubMed]; GRASP65 is an important structural component required for maintenance of Golgi apparatus integrity, [RefSeq, PubMed]; Golgi Reassembly Stacking Protein 2 Modulates Myometrial Contractility during Labor by Affecting ATP Production. Publication Status: Online-Only, [RefSeq, PubMed]; Key structural protein of the Golgi apparatus (PubMed:33301566). The membrane cisternae of the Golgi apparatus adhere to each other to form stacks, which are aligned side by side to form the Golgi ribbon (PubMed:33301566). Acting in concert with GORASP1/GRASP65, is required for the formation and maintenance of the Golgi ribbon, and may be dispensable for the formation of stacks (PubMed:33301566). However, other studies suggest that GORASP2 plays a role in the assembly and membrane stacking of the Golgi cisternae, and in the process by which Golgi stacks reform after breakdown during mitosis and meiosis (PubMed:10487747, PubMed:21515684, PubMed:22523075). May regulate the intracellular transport and presentation of a defined set of transmembrane proteins, such as transmembrane TGFA (PubMed:11101516). Required for normal acrosome formation during spermiogenesis and normal male fertility, probably by promoting colocalization of JAM2 and JAM3 at contact sites between germ cells and Sertoli cells (By similarity). Mediates ER stress-induced unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane (PubMed:21884936, PubMed:27062250, PubMed:28067262)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 16, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 16, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 16, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "B4DKT0;Q53TE3;Q96I74;Q96K84;Q9H946;Q9UFW4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005801 cis-Golgi network", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0007030 Golgi organization;GO:0034976 response to endoplasmic reticulum stress;GO:0070925 organelle assembly", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q9H8Y8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPT9-1", "uniprot_id": "UBP22_HUMAN", "mass": 59961.0, "length": 525, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 22", "gene_name": "USP22", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 22", "refseq_ac": "NP_056091", "gene_names_uniprotkb": "USP22; KIAA1063; USP3L", "gene_names_refseq": "USP22; USP3L", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 22; 3.4.19.12; Deubiquitinating enzyme 22; Ubiquitin thioesterase 22; Ubiquitin-specific-processing protease 22", "protein_names_refseq": "deubiquitinating enzyme 22; ubiquitin carboxyl-terminal hydrolase 22; ubiquitin specific protease 22; ubiquitin thioesterase 22; ubiquitin thiolesterase 22; ubiquitin-specific processing protease 22", "tax_id": 9606, "disease": "glioblastoma (Disease Ontology:DOID:3068)", "pathway": " (hsa:23326); (R-HSA-3214847); (R-HSA-5689880)", "pathway_count": 3, "publication_count": 178, "publication_id_list": "10444327;10513815;10786633;10821277;10982817;11237011;11566882;11923872;12917689;12917691;14661020;15053880;15104674;15313887;15916963;16214042;16378762;16387653;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18160138;18172164;18206972;18206973;18381289;18467330;18469533;18623064;18632802;18636086;19015242;19135894;19187765;19188362;19363159;19398555;19424180;19608861;19651622;19838211;19874889;19910467;20018852;20096447;20112406;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;22424782;22542455;23159851;23301498;23395819;23481700;23486064;23783831;23824326;23825189;24056413;24260525;24366607;24493797;24714562;24715725;24896179;25197364;25305019;25418920;25469497;25576301;25578727;25645385;25880248;25892735;26154972;26375851;26811146;26992070;27030811;27600516;27601583;27846572;27920218;28063628;28218747;28228285;28446606;28832583;28834231;28855257;28860189;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30484775;30524438;30779550;31092671;31154438;31217245;31399419;31844290;32130408;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33369872;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34932366;35051231;35251023;35318648;35561310;35580925;35933402;36010968;36215666;36241641;36284347;36581221;37938771;38176298;38347585;38784391;38897527;39101247;7578059;9427644;9558366;9880483", "class_list": "", "function": "ADAM9 deubiquitination induced by USP22 suppresses proliferation, migration, invasion, and epithelial-mesenchymal transition of trophoblast cells in preeclampsia., [RefSeq, PubMed]; Deubiquitinase that plays a role in several cellular processes including transcriptional regulation, cell cycle progression or innate immunity. As part of the transcription regulatory histone acetylation (HAT) complex SAGA, catalyzes the deubiquitination of both histones H2A and H2B, thereby acting as a transcriptional coactivator (PubMed:18206972, PubMed:18206973, PubMed:18469533). Recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Facilitates cell-cycle progression by stabilizing CCNB1 and antagonizing its proteasome-mediated degradation in a cell cycle-specific manner (PubMed:27030811). Modulates cell cycle progression and apoptosis also by antagonizing TP53 transcriptional activation through deacetylase SIRT1 stabilization (PubMed:22542455). Plays multiple roles in immunity and inflammation. Participates in antiviral response by deubiquitinating the importin KPNA2, leading to IRF3 nuclear translocation and subsequent type I interferon production (PubMed:32130408). Acts as a central regulator of type III IFN signaling by negatively regulating STING1 activation and ubiquitination (PubMed:35933402). Inhibits NLRP3 inflammasome activation by promoting NLRP3 degradation through ATG5-dependent autophagy (By similarity). Deubiquitinates CD274 to induce its stabilization and thereby participates in maintenance of immune tolerance to self (PubMed:31399419). Controls necroptotic cell death by regulating RIPK3 phosphorylation and ubiquitination (PubMed:33369872). During bacterial infection, promotes pro-inflammatory response by targeting TRAF6 and removing its 'Lys-48'-linked polyubiquitination (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; USP22 as a key regulator of glycolysis pathway in osteosarcoma: insights from bioinformatics and experimental approaches. Publication Status: Online-Only, [RefSeq, PubMed]; USP22 is required for human endometrial stromal cell proliferation and decidualization by deubiquitinating FoxM1., [RefSeq, PubMed]; USP22 supports the aggressive behavior of basal-like breast cancer by stimulating cellular respiration. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin-Specific Protease 22 Plays a Key Role in Increasing Extracellular Vesicle Secretion and Regulating Cell Motility of Lung 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "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": "A0JNS3;Q2NLE2;Q6MZY4;Q8TBS8;Q96IW5", "ec_number_list": "2.3.1.48;2.3.1.-;2.3.1.57;3.4.19.12", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0004843 cysteine-type deubiquitinase activity;GO:0140936 histone H2B deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000124 SAGA complex", "go_biological_process": "GO:0009792 embryo development ending in birth or egg hatching;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006508 proteolysis;GO:0016579 protein deubiquitination", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "Q9UPT9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96BA8-1", "uniprot_id": "CR3L1_HUMAN", "mass": 57005.0, "length": 519, "protein_name": "Cyclic AMP-responsive element-binding protein 3-like protein 1", "gene_name": "CREB3L1", "organism": "Human", "refseq_name": "cyclic AMP-responsive element-binding protein 3-like protein 1 isoform 1", "refseq_ac": "NP_443086", "gene_names_uniprotkb": "CREB3L1; OASIS; PSEC0238", "gene_names_refseq": "C16DELp11.2; CREB3L1; DEL16p11.2; OASIS; OI16", "protein_names_uniprotkb": "Cyclic AMP-responsive element-binding protein 3-like protein 1; OASIS; Old astrocyte specifically-induced substance; cAMP-responsive element-binding protein 3-like protein 1", "protein_names_refseq": "BBF-2 homolog; Osteogenesis imperfecta, type XVI; cAMP-responsive element-binding protein 3-like protein 1; cyclic AMP-responsive element-binding protein 3-like protein 1 isoform 1; cyclic AMP-responsive element-binding protein 3-like protein 1; old astrocyte specifically-induced substance", "tax_id": 9606, "disease": "osteogenesis imperfecta type 16 (Disease Ontology:DOID:0110345)", "pathway": " (hsa:90993); (R-HSA-8874211)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;11353085;11830526;12054625;12138176;15104674;16236796;16417584;16469704;16940180;17074750;17117415;17712038;17721195;17875199;18391022;19883396;20546900;21767813;22544926;22705851;23256041;23481700;23584533;24079343;24126059;24715725;25310401;25576301;25625847;25955804;26810754;26992070;27499293;28228285;28514659;29242379;29786170;31154438;31844290;31848261;32157095;32350084;32488085;32897882;32938616;33141586;33592498;33936100;33968037;34509645;34932366;35051231;35251023;35580925;35689957;35802566;36010968;36192735;36241641;36284347;38253038;38380081;38960286;9271389", "class_list": "", "function": "(Microbial infection) May play a role in limiting virus spread by inhibiting proliferation of virus-infected cells. Upon infection with diverse DNA and RNA viruses, inhibits cell-cycle progression by binding to promoters and activating transcription of genes encoding cell-cycle inhibitors, such as p21/CDKN1A (PubMed:21767813)., [UniProtKB, PubMed]; A transcriptional activator of CREB/ATF family with a transmembrane domain, [RefSeq, PubMed]; CREB3L1 promotes tumor growth and metastasis of anaplastic thyroid carcinoma by remodeling the tumor microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical and biological relevance of CREB3L1 in Philadelphia chromosome-negative myeloproliferative neoplasms., [RefSeq, PubMed]; Dimerization of hub protein DYNLL1 and bZIP transcription factor CREB3L1 enhances transcriptional activation of CREB3L1 target genes like arginine vasopressin., [RefSeq, PubMed]; KIF26B and CREB3L1 Derived from Immunoscore Could Inhibit the Progression of Ovarian Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Precursor of the transcription factor form (Processed cyclic AMP-responsive element-binding protein 3-like protein 1), which is embedded in the endoplasmic reticulum membrane with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane (PubMed:12054625, PubMed:16417584, PubMed:25310401). In response to ER stress or DNA damage, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus where it activates transcription of specific target genes involved in the cell-cycle progression inhibition (PubMed:12054625, PubMed:21767813, PubMed:25310401)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Presence of FUS/CREB3L2 and FUS/CREB3L1 in low-grade fibromyxoid sarcoma and sclerosing epithelioid fibrosarcoma suggests these neoplasms may be related., [RefSeq, PubMed]; Reduced CREB3L1 expression in triple negative and luminal a breast cancer cells contributes to enhanced cell migration, anchorage-independent growth and metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013]., [RefSeq]; Transcription factor involved in cell type specific DNA damage and unfolded protein response (UPR). Binds the DNA consensus sequence 5'-GTGXGCXGC-3' (PubMed:21767813). Plays a critical role in bone formation through the transcription of COL1A1, and possibly COL1A2, and the secretion of bone matrix proteins. Directly binds to the UPR element (UPRE)-like sequence in an osteoblast-specific COL1A1 promoter region and induces its transcription. Does not regulate COL1A1 in other tissues, such as skin (By similarity). Required to protect astrocytes from ER stress-induced cell death. In astrocytes, binds to the cAMP response element (CRE) of the BiP/HSPA5 promoter and participate in its transcriptional activation (By similarity). In astrocytes and osteoblasts, upon DNA damage, inhibits cell-cycle progression after G2/M phase by binding to promoters and activating transcription of genes encoding cell-cycle inhibitors, such as p21/CDKN1A (By similarity). Required for TGFB1 to activate genes involved in the assembly of collagen extracellular matrix (PubMed:25310401)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q8N2D5;Q96CP0", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0042802 identical protein binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0046332 SMAD binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010629 negative regulation of gene expression;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q96BA8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DJD3-1", "uniprot_id": "RBY1A_HUMAN", "mass": 55784.0, "length": 496, "protein_name": "RNA-binding motif protein, Y chromosome, family 1 member A1", "gene_name": "RBMY1A1", "organism": "Human", "refseq_name": "RNA-binding motif protein, Y chromosome, family 1 member A1 isoform 2", "refseq_ac": "NP_001307873", "gene_names_uniprotkb": "RBMY1A1; RBM1; RBM2; YRRM1; YRRM2", "gene_names_refseq": "RBM1; RBM2; RBMY1A1; RBMY1C; RBMY; RBM; YRRM1; YRRM2", "protein_names_uniprotkb": "RNA-binding motif protein, Y chromosome, family 1 member A1; RNA-binding motif protein 1; RNA-binding motif protein 2; Y chromosome RNA recognition motif 1; hRBMY", "protein_names_refseq": "RNA-binding motif protein 2; RNA-binding motif protein, Y chromosome, family 1 member A1 isoform 2; RNA-binding motif protein, Y chromosome, family 1 member A1/C; Y chromosome RNA recognition motif 1; Y chromosome RNA recognition motif 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5940)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10332027;10749975;12165565;15595951;17318228;32473614;36191855;8269511;9108067;9598316", "class_list": "", "function": "PIM1-Induced Cytoplasmic Expression of RBMY Mediates Hepatocellular Carcinoma Metastasis., [RefSeq, PubMed]; Potential dual functional roles of the Y-linked RBMY in hepatocarcinogenesis., [RefSeq, PubMed]; 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, PubMed, PubMed]; 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 is thought to function as a splicing regulator 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": "Q15376;Q15377;Q15414;Q6NSB5;Q86VU6;Q8NHR0", "ec_number_list": "", "go_molecular_function": "GO:0003729 mRNA binding", "go_cellular_component": "GO:0005681 spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "P0DJD3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P11217-1", "uniprot_id": "PYGM_HUMAN", "mass": 97092.0, "length": 842, "protein_name": "Glycogen phosphorylase, muscle form", "gene_name": "PYGM", "organism": "Human", "refseq_name": "glycogen phosphorylase, muscle form isoform 2", "refseq_ac": "NP_001158188", "gene_names_uniprotkb": "PYGM", "gene_names_refseq": "GSD5; PYGM", "protein_names_uniprotkb": "Glycogen phosphorylase, muscle form; 2.4.1.1; Myophosphorylase", "protein_names_refseq": "glycogen phosphorylase, muscle form isoform 2; glycogen phosphorylase, muscle form; myophosphorylase; phosphorylase, glycogen, muscle", "tax_id": 9606, "disease": "cholestasis (Disease Ontology:DOID:13580); glycogen storage disease V (Disease Ontology:DOID:2746); glycogen storage disease (Disease Ontology:DOID:2747)", "pathway": " (hsa:5837); (R-HSA-70221)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "10382911;10382912;10417800;10450796;10487978;10590419;1067063;10681080;10714589;10899452;10949035;11168025;1150650;11706962;12031624;12604216;12825073;12930917;13115432;14638972;14748827;15118078;16083285;16523484;17915571;18323634;18984734;21081667;21767668;21880526;22225877;22706990;22869377;22898188;2391551;25576301;25645385;2667896;26992070;27543614;27600516;27726376;27920218;28218747;28228285;28649982;28832583;28904123;29242379;29331515;29393594;29508533;29557506;2961257;29632046;29632711;29786170;30315122;30397120;30429286;3049072;30524438;31844290;32387766;32735634;32983136;33298915;33592498;33633747;33717175;33912179;33924466;33968037;33981976;34087483;34171305;34405274;3447177;3466902;3476861;35022222;35051231;37217939;3840433;4829444;5264799;5461220;7603523;7847371;7902568;7951262;8316268;8401511;8420990;8535454;8755644;8896567;9504428;9506549;9633816;9691087", "class_list": "glycogene;glycosyltransferase", "function": "Allosteric enzyme that catalyzes the rate-limiting step in glycogen catabolism, the phosphorolytic cleavage of glycogen to produce glucose-1-phosphate, and plays a central role in maintaining cellular and organismal glucose homeostasis., [UniProtKB, PubMed]; Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]., [RefSeq]; Whole-exome sequencing detects PYGM variants in two adults with McArdle 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1311, "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": "A0AVK1;A6NDY6", "ec_number_list": "2.4.1.1;2.4.1.186;2.7.11.1;2.7.11.26;2.7.11.19", "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0000166 nucleotide binding;GO:0008184 glycogen phosphorylase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005977 glycogen metabolic process;GO:0005980 glycogen catabolic process", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "P11217-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P26045-1", "uniprot_id": "PTN3_HUMAN", "mass": 103990.0, "length": 913, "protein_name": "Tyrosine-protein phosphatase non-receptor type 3", "gene_name": "PTPN3", "organism": "Human", "refseq_name": "tyrosine-protein phosphatase non-receptor type 3 isoform 2", "refseq_ac": "NP_001138840", "gene_names_uniprotkb": "PTPN3; PTPH1", "gene_names_refseq": "PTP-H1; PTPH1; PTPN3", "protein_names_uniprotkb": "Tyrosine-protein phosphatase non-receptor type 3; 3.1.3.48; PTP-H1; Protein-tyrosine phosphatase H1", "protein_names_refseq": "cytoskeletal-associated protein tyrosine phosphatase; protein-tyrosine phosphatase H1; tyrosine-protein phosphatase non-receptor type 3 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5774); (R-HSA-182971); (R-HSA-5675221)", "pathway_count": 3, "publication_count": 82, "publication_id_list": "10206983;10415025;10490027;10514377;10652316;10702794;10757792;10953014;11237011;11823423;11894095;12072436;12218189;12234920;12583813;12593795;12593796;14505571;14724641;14985334;15021893;15117950;15465819;15475003;15664191;15701692;15851477;15962011;1626183;16407834;1648725;16892053;17097642;17724343;18294816;18332145;18515281;18547165;18669648;19054389;19091743;19158341;19167335;19814798;19901323;20332238;21376233;21779496;22730326;23105109;23186163;24275569;25263444;25314968;25597358;25880248;26811146;26992070;29493099;29557506;29731959;30779550;30875834;31154438;31844290;32157095;32387766;32938616;33968037;35051231;35318648;35494241;36010968;36284347;38173048;38297883;7541030;7542744;7657591;7874267;8621719;9341175", "class_list": "", "function": "Identification and verification of PTPN3 as a novel biomarker in predicting cancer prognosis, immunity, and immunotherapeutic efficacy. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of PTPN3 Expressed in Activated Lymphocytes Enhances the Antitumor Effects of Anti-PD-1 Therapy in Head and Neck Cancer, Especially in Hypoxic Environments., [RefSeq, PubMed]; May act at junctions between the membrane and the cytoskeleton., [UniProtKB, UniProtKB]; May act at junctions between the membrane and the cytoskeleton. Possesses tyrosine phosphatase activity., [UniProtKB]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AUW9;E7EN99;E9PGU7", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;2.7.10.1;3.1.3.5;3.1.3.2;2.3.2.27;2.7.11.24;3.1.3.67;3.1.3.27", "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0051117 ATPase binding;GO:0017080 sodium channel regulator activity;GO:0008092 cytoskeletal protein binding;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0051045 negative regulation of membrane protein ectodomain proteolysis;GO:0000165 MAPK cascade;GO:0045930 negative regulation of mitotic cell cycle;GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway;GO:0098902 regulation of membrane depolarization during action potential", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P26045-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00560-1", "uniprot_id": "SDCB1_HUMAN", "mass": 32444.0, "length": 298, "protein_name": "Syntenin-1", "gene_name": "SDCBP", "organism": "Human", "refseq_name": "syntenin-1 isoform 1", "refseq_ac": "NP_001007068", "gene_names_uniprotkb": "SDCBP; MDA9; SYCL", "gene_names_refseq": "MDA-9; MDA9; SDCBP1; SDCBP; ST1; SYCL; TACIP18", "protein_names_uniprotkb": "Syntenin-1; MDA-9; Melanoma differentiation-associated protein 9; Pro-TGF-alpha cytoplasmic domain-interacting protein 18; Scaffold protein Pbp1; Syndecan-binding protein 1; TACIP18", "protein_names_refseq": "melanoma differentiation associated protein-9; pro-TGF-alpha cytoplasmic domain-interacting protein 18; scaffold protein Pbp1; syndecan binding protein (syntenin); syndecan-binding protein 1; syntenin-1 isoform 1; syntenin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6386); (R-HSA-3928664); (R-HSA-447043); (R-HSA-5213460); (R-HSA-5675482); (R-HSA-6798695)", "pathway_count": 6, "publication_count": 182, "publication_id_list": "10047984;10230395;10770943;11152476;11179419;11237011;11432873;11498591;11557983;11983165;12643545;12676796;12679023;12695502;12842047;15081807;15800193;16282325;16533050;17074750;17081065;17310244;17644308;17975675;18083107;18507432;18512783;18570872;18578522;19007248;19413330;19524512;19524513;19531498;19915143;20068231;21081667;21737330;22265413;22299025;22349701;22421439;22424782;22535526;22660413;22817896;22869377;23186163;23301498;23328677;23481700;23650620;23719902;23783831;24029068;24059293;24275569;24316671;24703947;24715725;24813885;25219541;25502872;25576301;25645385;25852146;25893292;25996294;26032692;26154972;26291527;26375851;26539120;26775703;26811146;26866270;26900751;26933192;26992070;27090790;27386966;27452731;27600516;27726376;27846572;27862975;27920218;28218747;28228285;28446606;28467828;28514659;28661484;28832583;28860189;28871256;28904123;29109268;29242379;29314611;29393594;29493099;29508533;29557506;29605689;29632046;29632711;29681455;29774024;29786170;29789417;29883609;29883610;29930286;30315122;30484775;30524438;30770249;31020640;31031142;31138766;31217245;31358971;31611695;31844290;32157095;32162841;32269263;32350084;32357974;32387766;32488085;32502341;32561730;32572158;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34433824;34509645;34932366;34999730;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36828627;37217939;37298370;37759206;37938771;38555398;8692836;8922386;9371782;9391086;9511750;9804856;9883737", "class_list": "glycogene", "function": "Anaplasma phagocytophilum Ats-1 enhances exosome secretion through Syntenin-1. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional adapter protein involved in diverse array of functions including trafficking of transmembrane proteins, neuro and immunomodulation, exosome biogenesis, and tumorigenesis (PubMed:26291527). Positively regulates TGFB1-mediated SMAD2/3 activation and TGFB1-induced epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types. May increase TGFB1 signaling by enhancing cell-surface expression of TGFR1 by preventing the interaction between TGFR1 and CAV1 and subsequent CAV1-dependent internalization and degradation of TGFR1 (PubMed:25893292). In concert with SDC1/4 and PDCD6IP, regulates exosome biogenesis (PubMed:22660413). Regulates migration, growth, proliferation, and cell cycle progression in a variety of cancer types (PubMed:26539120). In adherens junctions may function to couple syndecans to cytoskeletal proteins or signaling components. Seems to couple transcription factor SOX4 to the IL-5 receptor (IL5RA) (PubMed:11498591). May also play a role in vesicular trafficking (PubMed:11179419). Seems to be required for the targeting of TGFA to the cell surface in the early secretory pathway (PubMed:10230395)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SDCBP modulates tumor microenvironment, tumor progression and anti-PD1 efficacy in colorectal cancer., [RefSeq, PubMed]; SDCBP promotes pancreatic cancer progression by preventing YAP1 from beta-TrCP-mediated proteasomal degradation., [RefSeq, PubMed]; The Multifunctional Protein Syntenin-1: Regulator of Exosome Biogenesis, Cellular Function, and Tumor Progression. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene was initially identified as a molecule linking syndecan-mediated signaling to the cytoskeleton. The syntenin protein contains tandemly repeated PDZ domains that bind the cytoplasmic, C-terminal domains of a variety of transmembrane proteins. This protein may also affect cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors. The protein is primarily localized to membrane-associated adherens junctions and focal adhesions but is also found at the endoplasmic reticulum and nucleus. Alternative splicing results in multiple transcript variants encoding different isoforms. Related pseudogenes have been identified on multiple chromosomes. [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": 10, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 336, "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": "B2R5Q7;B4DUH3;B7ZLN2;O00173;O43391;Q14CP2", "ec_number_list": "", "go_molecular_function": "GO:0005109 frizzled binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity;GO:0008093 cytoskeletal anchor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation;GO:0030307 positive regulation of cell growth;GO:0030335 positive regulation of cell migration;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "O00560-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WYL5-1", "uniprot_id": "SSH1_HUMAN", "mass": 115511.0, "length": 1049, "protein_name": "Protein phosphatase Slingshot homolog 1", "gene_name": "SSH1", "organism": "Human", "refseq_name": "protein phosphatase Slingshot homolog 1 isoform 2", "refseq_ac": "NP_001154802", "gene_names_uniprotkb": "SSH1; KIAA1298; SSH1L", "gene_names_refseq": "SSH1L; SSH1", "protein_names_uniprotkb": "Protein phosphatase Slingshot homolog 1; 3.1.3.16; 3.1.3.48; SSH-1L; SSH-like protein 1; hSSH-1L", "protein_names_refseq": "SSH-like protein 1; hSSH-1L; protein phosphatase Slingshot homolog 1 isoform 2; protein phosphatase Slingshot homolog 1; slingshot homolog 1", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:54434)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "11237011;11832213;12684437;12807904;14531860;14645219;15056216;15159416;15660133;15671020;16230460;18669648;19329994;19567672;20058876;20068231;21525957;22270398;23186163;23481700;24715725;24840177;25100728;25418920;25576301;25645385;26992070;27600516;28228285;28832583;28904123;29242379;29393594;29508533;29557506;29632046;29769354;29789417;30315122;30429286;30779550;30833945;31844290;31848261;31998317;32157095;32488085;32938616;32983136;33141586;33298915;33592498;33968037;33981976;34171305;34561969;34932366;35051231;36010968;36241641;36284347;36637427;36857607;37463212;37837551", "class_list": "", "function": "Dysregulated expression of slingshot protein phosphatase 1 (SSH1) disrupts circadian rhythm and WNT signaling associated to hepatocellular carcinoma pathogenesis., [RefSeq, PubMed]; Findings suggest that SSH1L is activated downstream of PI3K and plays a critical role in insulin-induced membrane protrusion by dephosphorylating and activating cofilin, [RefSeq, PubMed]; Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SSH1 plays a critical role in cytokinesis by dephosphorylating and reactivating cofilin in later stages of mitosis, [RefSeq, PubMed]; SSH1 promotes progression of intrahepatic cholangiocarcinoma via p38 MAPK-CXCL8 axis., [RefSeq, PubMed]; Slingshot homolog-1 amplifies mitochondrial abnormalities by distinctly impairing health and clearance of mitochondria., [RefSeq, PubMed]; Slingshot homolog-1-mediated Nrf2 sequestration tips the balance from neuroprotection to neurodegeneration in Alzheimer's disease., [RefSeq, PubMed]; The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 17, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6P6C0;Q8N9A7;Q8WYL3;Q8WYL4;Q9P2P8", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;3.1.3.5;3.1.3.2;2.7.10.1;3.1.3.67;3.1.3.53;3.1.3.52;3.1.3.27;3.1.3.86;3.1.3.36;3.1.3.74", "go_molecular_function": "GO:0003779 actin binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0004721 phosphoprotein phosphatase activity;GO:0004725 protein tyrosine phosphatase activity;GO:0016791 phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0030027 lamellipodium;GO:0030426 growth cone", "go_biological_process": "GO:0098976 excitatory chemical synaptic transmission;GO:2000463 positive regulation of excitatory postsynaptic potential;GO:0000902 cell morphogenesis;GO:0030036 actin cytoskeleton organization;GO:0006470 protein dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q8WYL5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCB6-1", "uniprot_id": "SPON1_HUMAN", "mass": 90973.0, "length": 807, "protein_name": "Spondin-1", "gene_name": "SPON1", "organism": "Human", "refseq_name": "spondin-1 precursor", "refseq_ac": "NP_006099", "gene_names_uniprotkb": "SPON1; KIAA0762; VSGP", "gene_names_refseq": "SPON1; VSGP/F-spondin; f-spondin", "protein_names_uniprotkb": "Spondin-1; F-spondin; Vascular smooth muscle cell growth-promoting factor", "protein_names_refseq": "spondin 1, (f-spondin) extracellular matrix protein; spondin 1, extracellular matrix protein; spondin-1 precursor; vascular smooth muscle cell growth-promoting factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:10418); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11067851;11368520;12096136;16103746;16464858;18602404;18720094;19020352;19796186;21569239;22588082;23090970;23584533;23889335;24190977;25544610;29093164;29237092;29242379;29331515;29557506;29741879;29789417;30459171;31844290;31848261;31927744;32484721;33592498;34185709;35051231;35487760;36284347;37074911;37179355;37217939;38253038", "class_list": "", "function": "Cell adhesion protein that promotes the attachment of spinal cord and sensory neuron cells and the outgrowth of neurites in vitro. May contribute to the growth and guidance of axons in both the spinal cord and the PNS (By similarity). Major factor for vascular smooth muscle cell., [UniProtKB]; Evaluation of relationship between SPON1 gene and genetic susceptibility of postmenopausal osteoporosis., [RefSeq, PubMed]; Expression profile of VSGP/F-spondin identifies this molecule as a potential diagnostic marker or target for developing therapeutic strategies to treat ovarian carcinoma, [RefSeq, PubMed]; Increased SPON1 promotes pancreatic ductal adenocarcinoma progression by enhancing IL-6 trans-signalling., [RefSeq, PubMed]; Prognostic and Diagnostic Values of miR-506 and SPON 1 in Colorectal Cancer with Clinicopathological Considerations., [RefSeq, PubMed]; SPON1 is an independent prognostic biomarker for ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 8, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 8, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 8, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 8, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 26, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "A8K6W5;O94862;Q8NCD7;Q8WUR5", "ec_number_list": "", "go_molecular_function": "GO:0050693 LBD domain binding;GO:0046872 metal ion binding;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9HCB6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N4C7-1", "uniprot_id": "STX19_HUMAN", "mass": 34324.0, "length": 294, "protein_name": "Syntaxin-19", "gene_name": "STX19", "organism": "Human", "refseq_name": "syntaxin-19", "refseq_ac": "NP_001001850", "gene_names_uniprotkb": "STX19", "gene_names_refseq": "STX19", "protein_names_uniprotkb": "Syntaxin-19", "protein_names_refseq": "syntaxin-19", "tax_id": 9606, "disease": "", "pathway": " (hsa:415117)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "16420529;23481700;28832583;35494241", "class_list": "", "function": "Plays a role in endosomal trafficking of the epidermal growth factor receptor (EGFR)., [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": 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:0000149 SNARE binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0048787 presynaptic active zone membrane;GO:0005886 plasma membrane;GO:0012505 endomembrane system;GO:0031201 SNARE complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006887 exocytosis;GO:0031629 synaptic vesicle fusion to presynaptic active zone membrane;GO:0048278 vesicle docking", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8N4C7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q01974-1", "uniprot_id": "ROR2_HUMAN", "mass": 104757.0, "length": 943, "protein_name": "Tyrosine-protein kinase transmembrane receptor ROR2", "gene_name": "ROR2", "organism": "Human", "refseq_name": "tyrosine-protein kinase transmembrane receptor ROR2 isoform 2 precursor", "refseq_ac": "NP_001305133", "gene_names_uniprotkb": "ROR2; NTRKR2", "gene_names_refseq": "BDB1; BDB; NTRKR2; ROR2; RRS1", "protein_names_uniprotkb": "Tyrosine-protein kinase transmembrane receptor ROR2; 2.7.10.1; Neurotrophic tyrosine kinase, receptor-related 2", "protein_names_refseq": "neurotrophic tyrosine kinase receptor-related 2; tyrosine-protein kinase transmembrane receptor ROR2 isoform 2 precursor; tyrosine-protein kinase transmembrane receptor ROR2", "tax_id": 9606, "disease": "Robinow syndrome (Disease Ontology:DOID:0060254); autosomal recessive Robinow syndrome (Disease Ontology:DOID:0060764); brachydactyly type B1 (Disease Ontology:DOID:0110969); cleft palate (Disease Ontology:DOID:674)", "pathway": " (hsa:4920); (R-HSA-4086400); (R-HSA-5140745)", "pathway_count": 3, "publication_count": 99, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10698942;10700182;10862746;10932186;10932187;10986040;11101902;11237011;11358862;11751577;11779461;12015986;12134165;12533515;12839624;1334494;14636582;14752058;15143170;15169958;15501440;15608632;15936275;16116452;16280981;16495441;16602827;16723543;16971168;17021034;17117926;17130287;17344846;17373907;17433286;17525332;17627283;17717073;18162551;18215320;18256687;18365018;18719708;18798527;19365405;19523939;19530173;19582886;19589360;19910923;20004982;20006983;20068231;20803696;20940229;21078818;21316585;22101459;22773843;22992069;23109420;23140633;23144463;23396967;23481700;23584533;23821037;24715725;25029443;25576301;25892735;26035863;28832583;29242379;29393594;29485866;29557506;29786170;30459171;31020640;31844290;32350084;32387766;33592498;33981976;35051231;35251023;36241641;37074911;38587578;38632356;38665916;38684301;38780011;39468010;9674432;9716412", "class_list": "", "function": "MiR-124-3p and miR-194-5p regulation of the PI3K/AKT pathway via ROR2 in medulloblastoma progression., [RefSeq, PubMed]; Role of the Ror family receptors in Wnt5a signaling. Review article, [RefSeq, PubMed]; Ror2 signaling regulated by differential Wnt proteins determines pathological fate of muscle mesenchymal progenitors. Publication Status: Online-Only, [RefSeq, PubMed]; Structure and function of the ROR2 cysteine-rich domain in vertebrate noncanonical WNT5A signaling. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]., [RefSeq]; Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development (By similarity). Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation (PubMed:17717073). In contrast, has also been shown to have very little tyrosine kinase activity in vitro. May act as a receptor for wnt ligand WNT5A which may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443)., [UniProtKB, PubMed, UniProtKB, PubMed]; [Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene]., [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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 65, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 4, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q59GF5;Q5SPI5;Q9HAY7;Q9HB61", "ec_number_list": "2.7.12.2;2.7.10.1;2.7.10.2;2.7.11.1;2.7.12.1;2.7.1.40;2.7.1.32;2.7.1.82;2.7.10.4;2.7.11.13;2.7.11.23", "go_molecular_function": "GO:0005524 ATP binding;GO:0015026 coreceptor activity;GO:0046872 metal ion binding;GO:0017147 Wnt-protein binding;GO:0004714 transmembrane receptor protein tyrosine kinase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0043235 receptor complex;GO:0030669 clathrin-coated endocytic vesicle membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0030335 positive regulation of cell migration;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q01974-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H190-1", "uniprot_id": "SDCB2_HUMAN", "mass": 31594.0, "length": 292, "protein_name": "Syntenin-2", "gene_name": "SDCBP2", "organism": "Human", "refseq_name": "syntenin-2 isoform a", "refseq_ac": "NP_001186713", "gene_names_uniprotkb": "SDCBP2; SITAC18", "gene_names_refseq": "SDCBP2; SITAC18; SITAC; ST-2; ST2", "protein_names_uniprotkb": "Syntenin-2; SITAC; Similar to TACIP18; Syndecan-binding protein 2", "protein_names_refseq": "syndecan binding protein (syntenin) 2; syntenin-2 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:27111)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11102519;11152476;15961997;16959974;20068231;22623796;23300061;25576301;27862975;31154438;32157095;32938616;34357683;35051231;36284347;37714445", "class_list": "glycogene", "function": "Binds phosphatidylinositol 4,5-bisphosphate (PIP2). May play a role in the organization of nuclear PIP2, cell division and cell survival (PubMed:15961997)., [UniProtKB, PubMed]; Targeting SDCBP2 in acute myeloid leukemia., [RefSeq, PubMed]; The protein encoded by this gene contains two class II PDZ domains. PDZ domains facilitate protein-protein interactions by binding to the cytoplasmic C-terminus of transmembrane proteins, and PDZ-containing proteins mediate cell signaling and the organization of protein complexes. The encoded protein binds to phosphatidylinositol 4, 5-bisphosphate (PIP2) and plays a role in nuclear PIP2 organization and cell division. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Read-through transcription also exists between this gene and the upstream FKBP1A (FK506 binding protein 1A, 12kDa) gene, as represented in GeneID:100528031. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 389, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O95892;Q5W0X1;Q9BZ42;Q9H567;Q9NRY8", "ec_number_list": "", "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007399 nervous system development;GO:0008283 cell population proliferation;GO:0035556 intracellular signal transduction;GO:0046907 intracellular transport", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9H190-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75558-1", "uniprot_id": "STX11_HUMAN", "mass": 33196.0, "length": 287, "protein_name": "Syntaxin-11", "gene_name": "STX11", "organism": "Human", "refseq_name": "syntaxin-11", "refseq_ac": "NP_003755", "gene_names_uniprotkb": "STX11", "gene_names_refseq": "FHL4; HLH4; HPLH4; STX11", "protein_names_uniprotkb": "Syntaxin-11", "protein_names_refseq": "syntaxin-11", "tax_id": 9606, "disease": "familial hemophagocytic lymphohistiocytosis 4 (Disease Ontology:DOID:0110924)", "pathway": " (hsa:8676)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "10036234;15703195;16582076;17525286;19804848;19884660;21388490;23481700;24227526;24459464;24910990;25502872;26771955;27452731;27846572;28265073;28467828;28832583;29242379;29774024;31020640;31844290;32350084;32387766;32502341;32983136;33043033;33141586;34357683;34433824;34509645;34932366;35051231;35154160;35580925;36728431;38198890;38722309;40914422;9553086;9571206", "class_list": "", "function": "Dynamic palmitoylation of STX11 controls injury-induced fatty acid uptake to promote muscle regeneration., [RefSeq, PubMed]; Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect. Erratum:[J Exp Med. 2024 Jul 1;221(7):e2022112205142024c. doi: 10.1084/jem.2022112205142024c. PMID: 38771261], [RefSeq, PubMed]; SNAREs (soluble N-ethylmaleimide-sensitive factor-attachment protein receptors) are essential proteins for intracellular membrane fusion. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four-helix bundle whose assembly releases energy that drives membrane fusion. The core SNARE complex typically consists of four alpha-helical domains, three from target membrane SNAREs (t-SNAREs) and one from a vesicle SNARE (v-SNARE) (PubMed:10036234, PubMed:24227526, PubMed:26771955, PubMed:28265073). Syntaxin-11/STX11 is an atypical lipid-anchored t-SNARE that forms a SNARE complex with the t-SNARE SNAP23 and the v-SNARE VAMP8. This SNARE complex plays a critical role in the regulated exocytosis of cytotoxic granules by natural killer (NK) cells and cytotoxic T-lymphocytes (PubMed:17525286, PubMed:19804848, PubMed:19884660, PubMed:24227526, PubMed:26771955, PubMed:28265073). In macrophages, STX11 regulates stimulus-dependent vesicular transport of TLR4 from recycling endosomes to the plasma membrane by cooperating with SNAP23, thereby playing a critical role in microbial component recognition and the induction of innate and adaptive immunity (By similarity). In skeletal muscle satellite cells, STX11 cooperates with its cognate SNAREs VAMP4 and SNAP23 to facilitate CD36 vesicular transport from endosomes to the plasma membrane, an essential step in muscle regeneration (By similarity). In another proposed mechanism, STX11 may function as a regulator of the SNARE VTI1B on late endosomes to regulate trafficking from late endosomes to lysosomes (PubMed:21388490)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Syntaxin 11 Contributes to the Interferon-Inducible Restriction of Coxiella burnetii Intracellular Infection., [RefSeq, PubMed]; This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [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": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1P598;O75378;O95148;Q5TCL6", "ec_number_list": "", "go_molecular_function": "GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0048787 presynaptic active zone membrane;GO:0005886 plasma membrane;GO:0032588 trans-Golgi network membrane;GO:0012505 endomembrane system;GO:0031201 SNARE complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006887 exocytosis;GO:0031629 synaptic vesicle fusion to presynaptic active zone membrane;GO:0048278 vesicle docking", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "O75558-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969H8-1", "uniprot_id": "MYDGF_HUMAN", "mass": 18795.0, "length": 173, "protein_name": "Myeloid-derived growth factor", "gene_name": "MYDGF", "organism": "Human", "refseq_name": "myeloid-derived growth factor precursor", "refseq_ac": "NP_061980", "gene_names_uniprotkb": "MYDGF; C19orf10", "gene_names_refseq": "C19orf10; EUROIMAGE1875335; IL25; IL27w; IL27; MYDGF; R33729_1; SF20", "protein_names_uniprotkb": "Myeloid-derived growth factor; MYDGF", "protein_names_refseq": "UPF0556 protein C19orf10; interleukin 27 working designation; interleukin-25; myeloid-derived growth factor precursor; stromal cell-derived growth factor SF20", "tax_id": 9606, "disease": "", "pathway": " (hsa:56005); (R-HSA-381038)", "pathway_count": 2, "publication_count": 84, "publication_id_list": "10601334;10827079;11237011;11714798;12204115;14641539;15466936;16461360;16539657;17362502;18664523;19892738;20068231;21128247;21282569;22299025;22898188;23481700;24714562;25581518;25645385;27090790;27846572;28218747;28467828;28649982;28832583;29242379;29314611;29437277;29557506;29632711;29786170;29954947;30192525;30315122;30410026;30573663;31020640;31844290;31848261;32157095;32162841;32350084;32387766;32502341;32938616;32983136;33043033;33123756;33141586;33298915;33592498;33717175;33912179;33936100;33968037;34019948;34078123;34171305;34211107;34224308;34357683;34433824;34509645;34558072;34725712;35051231;35154160;35251023;35580925;36010968;36215666;36241641;36284347;36698245;38185568;38316785;38665916;7590364;8666242;9037597;9450183;9473480", "class_list": "", "function": "Altered peripheral B lymphocyte homeostasis and functions mediated by IL-27 via activating the mammalian target of rapamycin signaling pathway in patients with rheumatoid arthritis., [RefSeq, PubMed]; Bone marrow-derived monocyte and paracrine-acting protein that promotes cardiac myocyte survival and adaptive angiogenesis for cardiac protection and/or repair after myocardial infarction (MI). Stimulates endothelial cell proliferation through a MAPK1/3-, STAT3- and CCND1-mediated signaling pathway. Inhibits cardiac myocyte apoptosis in a PI3K/AKT-dependent signaling pathway (By similarity). Involved in endothelial cell proliferation and angiogenesis (PubMed:25581518)., [UniProtKB, UniProtKB, PubMed]; Identification of myeloid-derived growth factor as a mechanically-induced, growth-promoting angiocrine signal for human hepatocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of the correlations between interleukin-27 (IL-27) and immune-inflammatory imbalance in preterm birth., [RefSeq, PubMed]; Myeloid-derived growth factor and its effects on cardiovascular and metabolic diseases. Review article, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RhMYDGF Alleviates I/R-induced Kidney Injury by Inhibiting Inflammation and Apoptosis via the Akt Pathway., [RefSeq, PubMed]; Taken together, these data suggest that c19orf10 might be one of the growth factors and potential molecular targets activated in HCC., [RefSeq, PubMed]; The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown. [provided by RefSeq, Jul 2008]., [RefSeq]; We identified a novel protein, c19orf10 (chromosome 19 open reading frame 10), produced by fibroblast-like synoviocytes, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6W628;O75256;O75272;Q9BTK7;Q9NP69", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0005793 endoplasmic reticulum-Golgi intermediate compartment", "go_biological_process": "GO:0001525 angiogenesis;GO:0001934 positive regulation of protein phosphorylation;GO:0043066 negative regulation of apoptotic process;GO:0043410 positive regulation of MAPK cascade;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q969H8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P1W5-1", "uniprot_id": "CA094_HUMAN", "mass": 65353.0, "length": 598, "protein_name": "Uncharacterized protein C1orf94", "gene_name": "C1orf94", "organism": "Human", "refseq_name": "uncharacterized protein C1orf94 isoform a", "refseq_ac": "NP_001128206", "gene_names_uniprotkb": "C1orf94", "gene_names_refseq": "C1orf94", "protein_names_uniprotkb": "Uncharacterized protein C1orf94", "protein_names_refseq": "uncharacterized protein C1orf94 isoform a; uncharacterized protein C1orf94", "tax_id": 9606, "disease": "", "pathway": " (hsa:84970)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "26375851;28411811;33392160;33592498;35051231;35580925;36215666", "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": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KVT1;D3DPR3;E9PJ76;Q96IC8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6P1W5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30305-1", "uniprot_id": "MPIP2_HUMAN", "mass": 64987.0, "length": 580, "protein_name": "M-phase inducer phosphatase 2", "gene_name": "CDC25B", "organism": "Human", "refseq_name": "M-phase inducer phosphatase 2 isoform 7", "refseq_ac": "NP_001274448", "gene_names_uniprotkb": "CDC25B; CDC25HU2", "gene_names_refseq": "CDC25B; MPIP2", "protein_names_uniprotkb": "M-phase inducer phosphatase 2; 3.1.3.48; Dual specificity phosphatase Cdc25B", "protein_names_refseq": "CDC25 homolog B; M-phase inducer phosphatase 2 isoform 7; M-phase inducer phosphatase 2; dual specificity phosphatase Cdc25B", "tax_id": 9606, "disease": "endometrial hyperplasia (Disease Ontology:DOID:0080365); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); endometrial cancer (Disease Ontology:DOID:1380); vulva squamous cell carcinoma (Disease Ontology:DOID:2101); breast carcinoma (Disease Ontology:DOID:3459)", "pathway": " (hsa:994); (R-HSA-69273); (R-HSA-69656); (R-HSA-8862803); (R-HSA-9825892)", "pathway_count": 5, "publication_count": 146, "publication_id_list": "10323868;10375532;10393926;10395539;10454565;10543950;10600115;10604467;10639123;10652300;10770922;10827953;10830966;11062467;11063929;11231585;11237011;11238451;11313932;11333986;11585773;11853546;11897663;11907280;12107172;12400006;12411508;12527891;12730199;12754270;1312467;1384126;1396589;14630392;15024056;15128871;15150265;15311285;15456846;15572030;15590058;15629715;15908796;16082213;16582612;1662986;16861915;17003105;1717476;17332740;17533373;1828290;18285455;1836978;18384749;18394995;18669648;18691386;19160488;19192479;19223768;19276368;19638579;19690332;20360007;20801879;21212267;21640712;21813648;21900495;22451695;22647378;22899714;23186163;23242214;23708659;24715725;25142731;25576301;26154972;26486273;26992070;27846572;28832583;28903331;28904123;29154753;29242379;29493099;29557506;30315122;30379171;30484775;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33385163;33402344;33537174;33592498;33633747;33691108;33771996;33912179;33936100;33968037;34171305;34185709;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36655391;37938771;38194158;7629134;7698360;7737117;7743995;7799941;7987387;8119945;8343963;8428596;8440392;9188863;9228946;9268380;9670027;9679058;9710594", "class_list": "", "function": "CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. [provided by RefSeq, Jul 2008]., [RefSeq]; Exploring the mechanism of C473D mutation on CDC25B causing weak binding affinity with CDK2/CyclinA by molecular dynamics study., [RefSeq, PubMed]; Transcription factor E2F3 activates CDC25B to regulate DNA damage and promote mitoxantrone resistance in stomach adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression (PubMed:1836978, PubMed:20360007). Directly dephosphorylates CDK1 and stimulates its kinase activity (PubMed:20360007). Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2-dependent manner (PubMed:17332740). The three isoforms seem to have a different level of activity (PubMed:1836978)., [UniProtKB, PubMed, PubMed, PubMed]; Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression. Directly dephosphorylates CDK1 and stimulates its kinase activity. Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2-dependent manner. The three isoforms seem to have a different level of activity., [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": 41, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DVY1;D3DVY2;D3DVY3;D3DVY4;O43551;Q13971;Q5JX77;Q6RSS1;Q9BRA6", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;2.7.11.22;2.7.11.23;3.1.3.5;3.1.3.2;2.7.10.1;3.1.3.67;2.7.11.1;3.1.3.27", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0004721 phosphoprotein phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0006468 protein phosphorylation;GO:0008284 positive regulation of cell population proliferation;GO:0010971 positive regulation of G2/M transition of mitotic cell cycle;GO:0045931 positive regulation of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "P30305-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q70IA8-1", "uniprot_id": "MOB3C_HUMAN", "mass": 25623.0, "length": 216, "protein_name": "MOB kinase activator 3C", "gene_name": "MOB3C", "organism": "Human", "refseq_name": "MOB kinase activator 3C", "refseq_ac": "NP_958805", "gene_names_uniprotkb": "MOB3C; MOBKL2C", "gene_names_refseq": "MOB1E; MOB3C; MOBKL2C", "protein_names_uniprotkb": "MOB kinase activator 3C; Mob1 homolog 2C; Mps one binder kinase activator-like 2C", "protein_names_refseq": "MOB kinase activator 3C; MOB1, Mps One Binder kinase activator-like 2C; mob1 homolog 2C", "tax_id": 9606, "disease": "", "pathway": " (hsa:148932)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;26154972;26992070;27862975;28832583;29242379;29393594;29557506;30484775;31154438;31844290;32161166;32357974;32983136;33592498;34185709;35051231;36215666;36241641;36284347", "class_list": "", "function": "May regulate the activity of kinases., [UniProtKB]; The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DQ22;Q0VA98;Q5TC10;Q5TC11;Q8NAZ2;Q8NF28", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0030295 protein kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q70IA8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14627-1", "uniprot_id": "CDX4_HUMAN", "mass": 30480.0, "length": 284, "protein_name": "Homeobox protein CDX-4", "gene_name": "CDX4", "organism": "Human", "refseq_name": "homeobox protein CDX-4", "refseq_ac": "NP_005184", "gene_names_uniprotkb": "CDX4", "gene_names_refseq": "CDX4", "protein_names_uniprotkb": "Homeobox protein CDX-4; Caudal-type homeobox protein 4", "protein_names_refseq": "caudal type homeobox transcription factor 4; caudal-type homeobox protein 4; homeobox protein CDX-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:1046)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "28408465;29557506;32983136;35051231", "class_list": "", "function": "Gene expression analyses on WNT-dependent KDR(+)CD235a(-) definitive hematopoietic mesoderm and WNT-independent KDR(+)CD235a(+) primitive hematopoietic mesoderm revealed strong CDX gene expression within definitive hematopoietic mesoderm. Temporal expression analyses revealed that CDX4 was expressed exclusively within definitive hematopoietic KDR(+)CD235a(-) mesoderm in a WNT- and fibroblast growth factor-dependent manner, [RefSeq, PubMed]; This gene encodes a member of a small subfamily of homeobox containing transcription factors. The encoded protein may regulate homeobox gene expression during anteroposterior patterning and hematopoiesis. [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": 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": "A1A513;Q5JS20", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO: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:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0048565 digestive tract development", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "O14627-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P27448-5", "uniprot_id": "MARK3_HUMAN", "mass": 84429.0, "length": 753, "protein_name": "MAP/microtubule affinity-regulating kinase 3", "gene_name": "MARK3", "organism": "Human", "refseq_name": "MAP/microtubule affinity-regulating kinase 3 isoform b", "refseq_ac": "NP_001122391", "gene_names_uniprotkb": "MARK3; CTAK1; EMK2", "gene_names_refseq": "CTAK1; KP78; MARK3; PAR1A; Par-1a; VIPB", "protein_names_uniprotkb": "MAP/microtubule affinity-regulating kinase 3; 2.7.11.1; C-TAK1; Cdc25C-associated protein kinase 1; ELKL motif kinase 2; EMK-2; Par-1a; Protein kinase STK10; Ser/Thr protein kinase PAR-1; Serine/threonine-protein kinase p78; cTAK1", "protein_names_refseq": "C-TAK1; ELKL motif kinase 2; EMK-2; MAP/microtubule affinity-regulating kinase 3 isoform b; MAP/microtubule affinity-regulating kinase 3; cdc25C-associated protein kinase 1; protein kinase STK10; ser/Thr protein kinase PAR-1; serine/threonine-protein kinase p78", "tax_id": 9606, "disease": "visual impairment and progressive phthisis bulbi (Disease Ontology:DOID:0070356); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:4140); (R-HSA-5673000); (R-HSA-5674135); (R-HSA-5675221); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9856649)", "pathway_count": 11, "publication_count": 292, "publication_id_list": "10.1101/2023.09.13.557529;10051632;10205168;10206983;10209122;10409742;10415025;10490027;10567402;10611221;10655586;10673502;10702794;10712905;10725339;10757792;10891492;11027551;11032810;11325826;11433294;11494123;11741534;11756411;11802164;11802165;11840323;11891324;11912130;11930005;12068308;12244094;12473660;12479806;12551923;12583813;12832465;12879020;12932319;12932339;12941695;14530258;14636584;14724641;14970219;14975237;14976552;15035987;15084291;15118077;15118098;15226305;15239952;15258589;15260967;15319445;15467451;15507434;15520807;15543157;15547943;15630448;15664191;15710605;15711535;15851477;15899852;16014379;16034366;16041367;16093354;16135787;16294014;16364920;16508002;16537381;16630891;16702958;16822840;16879721;16892053;16959763;16980613;1698554;17018604;17097642;17145850;17178906;17344846;1748288;17496912;17563371;17603482;17603483;17623675;17724343;18220336;18287029;18294816;18332145;18515281;18547165;18559533;18562239;18644867;18662992;18691976;18974108;19049963;19091303;19091743;19158341;19219045;19242111;19279408;19369195;19467855;19524539;19541618;19608861;19684605;19727074;19933846;20052757;20112406;20130576;20141835;20179705;20332238;20460180;20526349;20674547;20818844;20820846;20858867;21107323;21145462;21406692;21424530;21441104;21441910;21486943;21514245;21639808;21644927;21779496;21784453;21965087;21993244;22043453;22113612;22177953;22292133;22356324;22395615;22510884;22569528;22589270;22592532;22647378;22730326;22745804;22826437;23105109;23159739;23171796;23186163;23190890;23207919;23288408;23352452;23360980;23453624;23583981;23614898;23666762;23667175;23680146;23863182;23875798;23906342;23934108;23993095;24121058;24121489;24135138;24202393;24211266;24345920;24347342;24651010;24746704;24937142;24957944;25195011;25204415;25248477;25313996;25314968;25418920;25435214;25595898;25597358;25907612;25965804;26214590;26343583;27128622;27227380;27264673;27920218;27999210;28082416;28087714;28228285;28289718;28394346;28666118;28832583;28939558;28984291;29242379;29295999;29331515;29393594;29461827;29467321;29485866;29557506;29632046;29769354;29771303;30034615;30794926;30804224;31844290;32157095;32387766;32488085;32502341;32636443;3287375;32897882;32938616;33592498;33744299;33968037;34140478;34357683;34932366;35051231;35318648;35561310;35580925;36010968;36284347;37074911;37770430;37938771;38715801;5338216;7542586;7565670;7565795;7731720;7744815;7929275;7935411;7958932;8051079;8157000;8336698;8521512;8521513;8521514;8637718;8876196;8946910;9020159;9199364;9234708;9353119;9440696;9543386;9560246;9676189;9689060;9733512;9760192;9823899;9858547;9973413", "class_list": "", "function": "Interaction between MARK3 (rs11623869), PLCB4 (rs6086746) and GEMIN2 (rs2277458) variants with bone mineral density and serum 25-hidroxivitamin D levels in Mexican Mestizo women. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase (PubMed:16822840, PubMed:16980613, PubMed:23666762). Involved in the specific phosphorylation of microtubule-associated proteins for MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Phosphorylates CDC25C on 'Ser-216' (PubMed:12941695). Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus (PubMed:16980613). Regulates localization and activity of MITF by mediating its phosphorylation, promoting subsequent interaction between MITF and 14-3-3 and retention in the cytosol (PubMed:16822840). Negatively regulates the Hippo signaling pathway and antagonizes the phosphorylation of LATS1. Cooperates with DLG5 to inhibit the kinase activity of STK3/MST2 toward LATS1 (PubMed:28087714). Phosphorylates PKP2 and KSR1 (PubMed:12941695)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 25, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MQR8;A0A0A0MST9;A0A0A0MT23;O60219;Q86TT8;Q8TB41;Q8WX83;Q96RG1;Q9UMY9;Q9UN34", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.3.2.27;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;3.6.5.2;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.10.4;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;3.6.4.-;3.1.3.16;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;2.7.1.107;2.7.1.94;2.7.1.138;3.6.5.-;2.7.7.-;2.7.7.19;1.14.11.65;3.1.31.1;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0048156 tau protein binding;GO:0050321 tau-protein kinase activity;GO:0019903 protein phosphatase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:1900181 negative regulation of protein localization to nucleus;GO:0010389 regulation of G2/M transition of mitotic cell cycle;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 30.2, "record_id": "P27448-5", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6A162-1", "uniprot_id": "K1C40_HUMAN", "mass": 48139.0, "length": 431, "protein_name": "Keratin, type I cytoskeletal 40", "gene_name": "KRT40", "organism": "Human", "refseq_name": "keratin, type I cytoskeletal 40", "refseq_ac": "NP_872303", "gene_names_uniprotkb": "KRT40; KA36", "gene_names_refseq": "CK-40; K40; KA36; KRT40", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 40; CK-40; Cytokeratin-40; K40; Keratin-40; Type I hair keratin Ka36", "protein_names_refseq": "cytokeratin-40; keratin 40, type I; keratin, type I cytoskeletal 40; type I hair keratin KA36", "tax_id": 9606, "disease": "", "pathway": " (hsa:125115); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 52, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;12902340;15033990;15085952;15337775;15373777;15617563;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17301834;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26390218;34019948;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "KRT39 and KRT40 expression patterns complete sequential expression of the 16 hair keratins in the human hair follicle, [RefSeq, PubMed]; May play a role in late hair differentiation., [UniProtKB]; This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6IFU5", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0045095 keratin filament;GO:0005882 intermediate filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0045109 intermediate filament organization;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q6A162-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P26371-1", "uniprot_id": "KRA59_HUMAN", "mass": 16276.0, "length": 169, "protein_name": "Keratin-associated protein 5-9", "gene_name": "KRTAP5-9", "organism": "Human", "refseq_name": "keratin-associated protein 5-9", "refseq_ac": "NP_005544", "gene_names_uniprotkb": "KRTAP5-9; KAP5.9; KRN1; KRTAP5.9; UHSK1", "gene_names_refseq": "KRN1; KRTAP5-1; KRTAP5-9; KRTAP5.9", "protein_names_uniprotkb": "Keratin-associated protein 5-9; Keratin, cuticle, ultrahigh sulfur 1; Keratin, ultra high-sulfur matrix protein A; Keratin-associated protein 5.9; UHS KerA; UHS keratin A; Ultrahigh sulfur keratin-associated protein 5.9", "protein_names_refseq": "UHS KerA; UHS keratin A; keratin, cuticle, ultrahigh sulfur 1; keratin, cuticle, ultrahigh sulphur 1; keratin, ultra high-sulfur matrix protein A; keratin-associated protein 5-9; keratin-associated protein 5.9; ultrahigh sulfur keratin-associated protein 5.9", "tax_id": 9606, "disease": "", "pathway": " (hsa:3846); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "10023043;15144888;15373777;16382671;1691188;1694855;1703541;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q14564;Q3MIP8", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "GO:0008544 epidermis development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P26371-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60411-1", "uniprot_id": "KR109_HUMAN", "mass": 30037.0, "length": 292, "protein_name": "Keratin-associated protein 10-9", "gene_name": "KRTAP10-9", "organism": "Human", "refseq_name": "keratin-associated protein 10-9", "refseq_ac": "NP_941963", "gene_names_uniprotkb": "KRTAP10-9; KAP10.9; KAP18-9; KRTAP10.9; KRTAP18-9; KRTAP18.9", "gene_names_refseq": "KAP10.9; KAP18.9; KRTAP10-9; KRTAP18-9", "protein_names_uniprotkb": "Keratin-associated protein 10-9; High sulfur keratin-associated protein 10.9; Keratin-associated protein 10.9; Keratin-associated protein 18-9; Keratin-associated protein 18.9", "protein_names_refseq": "high sulfur keratin-associated protein 10.9; keratin associated protein 18-9; keratin-associated protein 10-9; keratin-associated protein 10.9; keratin-associated protein 18.9", "tax_id": 9606, "disease": "", "pathway": " (hsa:386676); (hsa:386678); (R-HSA-6805567)", "pathway_count": 3, "publication_count": 13, "publication_id_list": "14962103;15028290;15373777;16382671;1691188;1694855;1714783;17521629;20068231;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A2RRG1;A6NIR9;Q70LJ1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P60411-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99683-1", "uniprot_id": "M3K5_HUMAN", "mass": 154537.0, "length": 1374, "protein_name": "Mitogen-activated protein kinase kinase kinase 5", "gene_name": "MAP3K5", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 5 isoform 2", "refseq_ac": "NP_005914", "gene_names_uniprotkb": "MAP3K5; ASK1; MAPKKK5; MEKK5", "gene_names_refseq": "ASK1; MAP3K5; MAPKKK5; MEKK5", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 5; 2.7.11.25; ASK-1; Apoptosis signal-regulating kinase 1; MAPK/ERK kinase kinase 5; MEK kinase 5; MEKK 5", "protein_names_refseq": "ASK-1; MAP/ERK kinase kinase 5; MAPK/ERK kinase kinase 5; MEK kinase 5; MEKK 5; apoptosis signal-regulating kinase 1; mitogen-activated protein kinase kinase kinase 5 isoform 2", "tax_id": 9606, "disease": "membranous glomerulonephritis (Disease Ontology:DOID:10976); Huntington's disease (Disease Ontology:DOID:12858); alcohol use disorder (Disease Ontology:DOID:1574); transient cerebral ischemia (Disease Ontology:DOID:224); cerebral infarction (Disease Ontology:DOID:3526); myocardial infarction (Disease Ontology:DOID:5844); amphetamine abuse (Disease Ontology:DOID:670); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677)", "pathway": " (hsa:4217); (R-HSA-2559580)", "pathway_count": 2, "publication_count": 214, "publication_id_list": "10347217;10411906;10688666;10722742;10772813;10849426;10871633;11029458;11090355;11154276;11237011;11298454;11427728;11564866;11689443;11920685;12134156;12189133;12193592;12421820;12435631;12556535;12697749;12808055;12813029;13130464;14500571;14507994;14532106;14688258;14749717;15023544;15094778;15242986;15287722;15310755;15563468;15701637;15782121;15866172;16038411;16098218;16129676;16186825;16337592;16407264;16436515;16532036;16826196;17210579;17210787;17220297;17254968;17255097;17332741;17344414;17344846;17389591;17395714;17456047;17724081;17765224;17825402;17875933;17883330;17937911;18088087;18365017;18408005;18446792;18669648;18691976;18793328;18948261;19287004;19369195;19389260;19451217;19451218;19462008;19528227;19570911;19590015;19749799;19805025;19920149;19935702;20112989;20358250;21986495;22020331;22095282;22194952;22276160;22325352;22336108;22544926;22683641;23102700;23186163;23476679;23481700;23608533;24008424;24366607;24448648;24715725;25576301;25892735;25982447;26095851;26154972;26375851;26661061;26758079;26912789;26992070;27397612;27846572;27920218;28063628;28218747;28228285;28514659;28600984;28832583;28834231;28904123;29186683;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30779550;31092671;31154438;31217245;31530632;31844290;31848261;31926625;32111229;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34561969;35051231;35154160;35580925;35798237;36189587;36215666;36241641;36284347;36581221;36951032;37340918;37938771;38879082;7535770;7588633;7816143;7859739;8001816;8078588;8259215;8319905;8622669;8622688;8626550;8741839;8774846;8846784;8940179;8974401;9030721;9162092;9195981;9529249;9564042;9628874;9743501;9768359;9774977;9824166", "class_list": "", "function": "Apoptosis Signal-Regulated Kinase-1 Promotes Nucleus Pulposus Cell Senescence and Apoptosis to Regulate Intervertebral Disc Degeneration., [RefSeq, PubMed]; Apoptosis signal-regulating kinase-1 regulates thrombin-induced endothelial permeability., [RefSeq, PubMed]; Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008]., [RefSeq]; Multiple Pathway-Dephosphorylated ASK-1 Confers Temozolomide-Resistance to Human Glioma Cells., [RefSeq, PubMed]; Oxidative Stress Kinase Activation and Impaired Insulin Receptor Signaling Precede Overt Alzheimer's Disease Neuropathology., [RefSeq, PubMed]; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Mediates signaling for determination of cell fate such as differentiation and survival. Plays a crucial role in the apoptosis signal transduction pathway through mitochondria-dependent caspase activation. MAP3K5/ASK1 is required for the innate immune response, which is essential for host defense against a wide range of pathogens. Mediates signal transduction of various stressors like oxidative stress as well as by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF) or lipopolysaccharide (LPS). Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade and the p38 MAPK signal transduction cascade through the phosphorylation and activation of several MAP kinase kinases like MAP2K4/SEK1, MAP2K3/MKK3, MAP2K6/MKK6 and MAP2K7/MKK7. These MAP2Ks in turn activate p38 MAPKs and c-jun N-terminal kinases (JNKs). Both p38 MAPK and JNKs control the transcription factors activator protein-1 (AP-1)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; [Tumor antigen-loaded dendritic cells combined with cytokine-induced killer (CIK) enhance the killing activity of human esophageal cancer cells by promoting ASK1 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": 23, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NIA0;B4DGB2;Q5THN3;Q99461", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:1990604 IRE1-TRAF2-ASK1 complex;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032991 protein-containing complex;GO:1902911 protein kinase complex", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0045087 innate immune response;GO:0046330 positive regulation of JNK cascade;GO:0051402 neuron apoptotic process;GO:0000165 MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "Q99683-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P55040-1", "uniprot_id": "GEM_HUMAN", "mass": 33949.0, "length": 296, "protein_name": "GTP-binding protein GEM", "gene_name": "GEM", "organism": "Human", "refseq_name": "GTP-binding protein GEM", "refseq_ac": "NP_005252", "gene_names_uniprotkb": "GEM; KIR", "gene_names_refseq": "GEM; KIR", "protein_names_uniprotkb": "GTP-binding protein GEM; GTP-binding mitogen-induced T-cell protein; RAS-like protein KIR", "protein_names_refseq": "GTP-binding mitogen-induced T-cell protein; GTP-binding protein GEM; RAS-like protein KIR; kinase-inducible Ras-like protein", "tax_id": 9606, "disease": "glaucoma (Disease Ontology:DOID:1686)", "pathway": " (hsa:2669); (R-HSA-9768919)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "11237011;11956230;14701734;14701738;20977903;21368041;23481700;24291638;24366607;24465693;25880248;27472814;27846572;27920218;28228285;29242379;29557506;29632046;29786170;31844290;32157095;32488085;32983136;33592498;33968037;34349016;34561969;34837834;35051231;36241641;36284347;37794464;7809057;7912851;9115241", "class_list": "", "function": "Could be a regulatory protein, possibly participating in receptor-mediated signal transduction at the plasma membrane. Has guanine nucleotide-binding activity but undetectable intrinsic GTPase activity., [UniProtKB]; Decreased expression of GEM in osteoarthritis cartilage regulates chondrogenic differentiation via Wnt/beta-catenin signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Direct inhibition of CaV2.3 by Gem is dynamin dependent and does not require a direct alfa/beta interaction., [RefSeq, PubMed]; Ras-like Gem GTPase induced by Npas4 promotes activity-dependent neuronal tolerance for ischemic stroke., [RefSeq, PubMed]; The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RA31", "ec_number_list": "", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003924 GTPase activity;GO:0005516 calmodulin binding;GO:0005525 GTP binding;GO:0005246 calcium channel regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0051233 spindle midzone;GO:0009898 cytoplasmic side of plasma membrane;GO:0030496 midbody", "go_biological_process": "GO:0051310 metaphase chromosome alignment;GO:0000278 mitotic cell cycle;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P55040-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969V4-1", "uniprot_id": "TEKT1_HUMAN", "mass": 48283.0, "length": 418, "protein_name": "Tektin-1", "gene_name": "TEKT1", "organism": "Human", "refseq_name": "tektin-1", "refseq_ac": "NP_444515", "gene_names_uniprotkb": "TEKT1", "gene_names_refseq": "TEKT1", "protein_names_uniprotkb": "Tektin-1", "protein_names_refseq": "tektin-1", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340)", "pathway": " (hsa:83659)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;11606253;12029069;20442750;29242379;30379171;31154438;32387766;33968037;36191189", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme. Forms filamentous polymers in the walls of ciliary and flagellar microtubules. Required for normal sperm mobility., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Tektin-t localized specifically to the principal piece of sperm flagella and to the post-acrosomal region; the h-tektin-t gene was assigned to chromosome 1, [RefSeq, PubMed]; This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is predominantly expressed in the testis and in mouse, tektin 1 mRNA was localized to the spermatocytes and round spermatids in the seminiferous tubules, indicating that it may play a role in spermatogenesis. [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": 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": "D3DTM7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0015630 microtubule cytoskeleton;GO:0036126 sperm flagellum;GO:0005879 axonemal microtubule;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0060294 cilium movement involved in cell motility;GO:0030317 flagellated sperm motility;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q969V4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51116-1", "uniprot_id": "FXR2_HUMAN", "mass": 74223.0, "length": 673, "protein_name": "RNA-binding protein FXR2", "gene_name": "FXR2", "organism": "Human", "refseq_name": "RNA-binding protein FXR2", "refseq_ac": "NP_004851", "gene_names_uniprotkb": "FXR2; FMR1L2", "gene_names_refseq": "FMR1L2; FXR2P; FXR2", "protein_names_uniprotkb": "RNA-binding protein FXR2; FMR1 autosomal homolog 2; FXR2P", "protein_names_refseq": "RNA-binding protein FXR2", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); fragile X syndrome (Disease Ontology:DOID:14261); glucose metabolism disease (Disease Ontology:DOID:4194); malignant pleural mesothelioma (Disease Ontology:DOID:7474)", "pathway": " (hsa:9513)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "11157796;11237011;15144186;17081983;17322306;18220336;18452278;18664458;18669648;18691976;18767875;19413330;19415658;19651622;19664994;19690332;20068231;21072162;21406692;21771594;22121020;23186163;23301498;23481700;24275569;25576301;25892735;26154972;26992070;27509095;28218747;28228285;28510447;28657654;28832583;28834231;29242379;29331515;29437277;29493099;29508533;29557506;29632711;29769354;30315122;30410026;30429286;30484775;31154438;31217245;31530632;31844290;31848261;32157095;32938616;32983136;33214551;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34171305;34229054;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;36581221;37938771;38587486;39531497;40596516;40914422;7489725;8668200;9259278;9437788", "class_list": "", "function": "LLPS of FXR proteins drives replication organelle clustering for beta-coronaviral proliferation., [RefSeq, PubMed]; The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; mRNA-binding protein that acts as a regulator of mRNAs translation and/or stability, and which is required for adult hippocampal neurogenesis (By similarity). Specifically binds to AU-rich elements (AREs) in the 3'-UTR of target mRNAs (By similarity). Promotes formation of some phase-separated membraneless compartment by undergoing liquid-liquid phase separation upon binding to AREs-containing mRNAs: mRNAs storage into membraneless compartments regulates their translation and/or stability (By similarity). Acts as a regulator of adult hippocampal neurogenesis by regulating translation and/or stability of NOG mRNA, thereby preventing NOG protein expression in the dentate gyrus (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": 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": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "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": "B2R9M2;D3DTQ1;Q86V09;Q8WUM2", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0098794 postsynapse", "go_biological_process": "GO:0043488 regulation of mRNA stability;GO:0045727 positive regulation of translation;GO:0048513 animal organ development;GO:0061157 mRNA destabilization;GO:0048170 positive regulation of long-term neuronal synaptic plasticity", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P51116-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q93074-1", "uniprot_id": "MED12_HUMAN", "mass": 243081.0, "length": 2177, "protein_name": "Mediator of RNA polymerase II transcription subunit 12", "gene_name": "MED12", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 12", "refseq_ac": "NP_005111", "gene_names_uniprotkb": "MED12; ARC240; CAGH45; HOPA; KIAA0192; TNRC11; TRAP230", "gene_names_refseq": "ARC240; CAGH45; FGS1; HDKR; HOPA; Kto; MED12S; MED12; OHDOX; OKS; OPA1; TNRC11; TRAP230", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 12; ARC240; Activator-recruited cofactor 240 kDa component; CAG repeat protein 45; Mediator complex subunit 12; OPA-containing protein; Thyroid hormone receptor-associated protein complex 230 kDa component; Trap230; Trinucleotide repeat-containing gene 11 protein", "protein_names_refseq": "CAG repeat protein 45; Kohtalo homolog; OPA-containing protein; activator-recruited cofactor 240 kDa component; human opposite paired; mediator of RNA polymerase II transcription subunit 12; mediator of RNA polymerase II transcription, subunit 12 homolog; putative mediator subunit 12; thyroid hormone receptor-associated protein complex 230 kDa component; thyroid hormone receptor-associated protein, 230 kDa subunit; trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit); trinucleotide repeat-containing gene 11 protein", "tax_id": 9606, "disease": "Ohdo syndrome (Disease Ontology:DOID:0060289); syndromic X-linked intellectual disorder Lujan-Fryns-type (Disease Ontology:DOID:0080985); major depressive disorder (Disease Ontology:DOID:1470); FG syndrome (Disease Ontology:DOID:14711); leiomyosarcoma (Disease Ontology:DOID:1967); phobic disorder (Disease Ontology:DOID:591); obesity (Disease Ontology:DOID:9970); cholestasis-pigmentary retinopathy-cleft palate syndrome (MONDO:MONDO:0012997)", "pathway": " (hsa:9968); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 206, "publication_id_list": "10075656;10198638;10235266;10235267;10330177;10425206;10480376;10558993;10777541;10835357;10882139;11027271;11095972;11237011;11267664;11395415;11607032;11872672;12118000;12177166;12213831;12505311;12582161;12829629;1310260;14519192;14976261;15067378;15130092;15175151;15175163;15273253;15635043;15850785;15896744;15919796;15989967;16380219;16565090;16595664;16606702;16719718;16972786;17000779;17011499;17081983;17334363;17369503;17761950;17980149;18420935;18452278;18540824;18669648;18691976;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19369195;19651622;19690332;19710929;19934321;20068231;20101261;20110263;20410276;2163759;22090124;22424782;22544926;23186163;23239344;23395478;23481700;24129315;24196956;24275569;24714562;24715725;25418920;25505266;25576301;25645385;25854864;25880248;25892735;26154972;26273451;26375851;26383637;26728094;26758079;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29440396;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30484775;30524438;30779550;31092671;31154438;31217245;31222486;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33244166;33298915;33329381;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34561969;35051231;35318648;35561310;35580925;36010968;36102648;36215666;36241641;36284347;36581221;37217939;37938771;38290796;38886586;39166292;39273004;39534244;7685352;7892212;8183939;8325954;8521497;8521498;8643605;8647822;8706692;8769649;8770873;8970730;9012850;9065481;9171241;9225980;9454824;9637681;9653119;9702738;9744270;9748239;9836620", "class_list": "", "function": "A C->T Variation in 3'-Untranslated Region Elevates MED12 Protein Level in Breast Cancer That Relates to Better Prognosis., [RefSeq, PubMed]; 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 pre-initiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Interaction between MED12 and DeltaNp63 activates basal identity in pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; Racial disparity in uterine leiomyoma: new insights of genetic and environmental burden in myometrial cells. Review article, [RefSeq, PubMed]; Somatic MED12 Mutations in Myometrial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 114, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O15410;O75557;Q9UHV6;Q9UND7", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0061630 ubiquitin protein ligase activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0000151 ubiquitin ligase complex;GO:0016592 mediator complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 21.1, "record_id": "Q93074-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61587-1", "uniprot_id": "RND3_HUMAN", "mass": 27368.0, "length": 244, "protein_name": "Rho-related GTP-binding protein RhoE", "gene_name": "RND3", "organism": "Human", "refseq_name": "rho-related GTP-binding protein RhoE precursor", "refseq_ac": "NP_001241667", "gene_names_uniprotkb": "RND3; ARHE; RHO8; RHOE", "gene_names_refseq": "ARHE; RND3; Rho8; RhoE; memB", "protein_names_uniprotkb": "Rho-related GTP-binding protein RhoE; 3.6.5.2; Protein MemB; Rho family GTPase 3; Rho-related GTP-binding protein Rho8; Rnd3", "protein_names_refseq": "protein MemB; ras homolog gene family, member E; rho-related GTP-binding protein Rho8; rho-related GTP-binding protein RhoE precursor; rho-related GTP-binding protein RhoE; small GTP binding protein Rho8", "tax_id": 9606, "disease": "", "pathway": " (hsa:390); (R-HSA-9696264)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "11237011;11940653;12163169;12842009;15738000;15775972;18996843;20811643;23622247;24715725;25576301;26969432;26992070;27656111;27846572;30429286;30451992;31154438;31844290;31871319;32157095;32488085;32938616;33592498;33968037;34171305;35051231;35318648;35580925;35699481;36241641;36284347;36496976;38218945;38224863;38482696;8649376;9531558", "class_list": "", "function": "Binds GTP but lacks intrinsic GTPase activity and is resistant to Rho-specific GTPase-activating proteins., [UniProtKB]; Identification of New Markers of Angiogenic Sprouting Using Transcriptomics: New Role for RND3., [RefSeq, PubMed]; KIAA1429 facilitates metastasis via m6A-YTHDC1-dependent RND3 down-regulation in hepatocellular carcinoma cells. Erratum:[Cancer Lett. 2025 Apr 28;616:217593. doi: 10.1016/j.canlet.2025.217593. PMID: 40044522], [RefSeq, PubMed]; Loss of RND3/RHOE controls entosis through LAMP1 expression in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; RND3 Transcriptionally Regulated by FOXM1 Inhibits the Migration and Inflammation of Synovial Fibroblasts in Rheumatoid Arthritis Through the Rho/ROCK Pathway. Erratum:[J Interferon Cytokine Res. 2022 Nov;42(11):594. doi: 10.1089/jir.2021.0228.correx. PMID: 36383127], [RefSeq, PubMed]; Rnd3 Is a Crucial Mediator of the Invasive Phenotype of Glioblastoma Cells Downstream of Receptor Tyrosine Kinase Signalling. Publication Status: Online-Only, [RefSeq, PubMed]; Socius is a novel Rnd GTPase-interacting protein involved in disassembly of actin stress fibers, [RefSeq, PubMed]; This gene encodes a protein which is a member of the small GTPase protein superfamily. The encoded protein binds only GTP but has no GTPase activity, and appears to act as a negative regulator of cytoskeletal organization leading to loss of adhesion. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "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": "D3DP95;P52199", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.4.17.22;2.7.3.2;2.7.10.1;3.6.1.-;3.6.5.4;3.1.3.48;2.7.11.39;2.7.11.1;3.6.-.-;3.6.1.15;3.6.4.13;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0007015 actin filament organization;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0032956 regulation of actin cytoskeleton organization;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "P61587-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P40855-1", "uniprot_id": "PEX19_HUMAN", "mass": 32807.0, "length": 299, "protein_name": "Peroxisomal biogenesis factor 19", "gene_name": "PEX19", "organism": "Human", "refseq_name": "peroxisomal biogenesis factor 19 isoform c", "refseq_ac": "NP_001180573", "gene_names_uniprotkb": "PEX19; HK33; PXF; SW-cl.22", "gene_names_refseq": "D1S2223E; HK33; PBD12A; PEX19; PMP1; PMPI; PXF; PXMP1", "protein_names_uniprotkb": "Peroxisomal biogenesis factor 19; 33 kDa housekeeping protein; Peroxin-19; Peroxisomal farnesylated protein", "protein_names_refseq": "33 kDa housekeeping protein; housekeeping gene, 33kD; peroxin-19; peroxisomal biogenesis factor 19 isoform c; peroxisomal farnesylated protein", "tax_id": 9606, "disease": "peroxisome biogenesis disorder 12A (Disease Ontology:DOID:0080486); Zellweger syndrome (Disease Ontology:DOID:905)", "pathway": " (hsa:5824); (R-HSA-1369062); (R-HSA-9603798); (R-HSA-9918481)", "pathway_count": 4, "publication_count": 138, "publication_id_list": "10051604;10430017;10551832;10704444;10777694;10873640;11095984;11099417;11178988;11237011;11248239;11259404;11309290;11390669;11402059;11453642;11478798;11590176;11606068;11718719;11747608;11883941;12150964;12183068;12504089;12509503;12751901;12821155;12917409;12924628;14519844;14570867;14592415;14709540;14762106;15007061;15044640;15084397;15209530;15713480;15781447;15994327;16007253;16280322;16791427;16895967;16980692;17069900;17287340;18174172;18452278;18669648;18767875;18782765;19197237;19413330;19415658;19651622;19664994;19664995;20068231;20531392;20554521;20683989;21102411;21911577;22624858;23186163;23301498;23460677;23481700;23628762;24275569;24831815;25062251;25418920;25517356;25645385;25892735;26092250;26777132;26871637;26992070;27108190;27181750;28228285;28281558;28325759;28510447;28514659;28832583;28834231;28904123;29237092;29242379;29493099;29632711;29769354;29786170;29902443;30379171;30599162;31217245;31530632;31844290;32157095;32350084;32387766;32897882;32938616;32983136;33141586;33177556;33298915;33392160;33691108;33717175;33798445;33912179;33968037;34087483;34171305;34509645;34932366;35051231;35215846;35580925;35705054;36010968;39205283;40307207;8076834;8411712;8507690;8706931;9339377;9345306;9418908", "class_list": "", "function": "A considerable functional diversity of the proteins encoded by two PEX19 splice variants and thereby provide first experimental evidence for specific biological functions of the different predicted domains of the PEX19 protein. GeneRIF: ALDRP interacts with PEX19 splice variants PEX19-delta-E2 and PEX19-delta-E8. GeneRIF: MP70 interacts with PEX19 splice variants PEX19-delta-E2 and PEX19p-delta-E8., [RefSeq, PubMed]; Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The M2 Protein of the Influenza A Virus Interacts with PEX19 to Facilitate Virus Replication by Disrupting the Function of Peroxisome. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 4, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DVE7;E9PPB4;G3V3G9;Q5QNY4;Q8NI97", "ec_number_list": "", "go_molecular_function": "GO:0036105 peroxisome membrane class-1 targeting sequence binding;GO:0033328 peroxisome membrane targeting sequence binding;GO:0051117 ATPase binding;GO:0140597 protein carrier chaperone", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol", "go_biological_process": "GO:0072663 establishment of protein localization to peroxisome;GO:1900131 negative regulation of lipid binding;GO:0016559 peroxisome fission;GO:0007031 peroxisome organization;GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "P40855-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P50222-1", "uniprot_id": "MEOX2_HUMAN", "mass": 33594.0, "length": 304, "protein_name": "Homeobox protein MOX-2", "gene_name": "MEOX2", "organism": "Human", "refseq_name": "homeobox protein MOX-2", "refseq_ac": "NP_005915", "gene_names_uniprotkb": "MEOX2; GAX; MOX2", "gene_names_refseq": "GAX; MEOX2; MOX2", "protein_names_uniprotkb": "Homeobox protein MOX-2; Growth arrest-specific homeobox; Mesenchyme homeobox 2", "protein_names_refseq": "growth arrest-specific homeobox; homeobox protein MOX-2", "tax_id": 9606, "disease": "myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:4223)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "16335786;17074759;19266028;19760604;20516212;22206000;27862975;28514659;29393594;29557506;30429286;31217245;31844290;33912179;34691030;35051231;35051778;35436995;35468210;35494241;35580925;36625258;7607679;7713505", "class_list": "", "function": "Identification of Diagnostic Signatures and Immune Cell Infiltration Characteristics in Rheumatoid Arthritis by Integrating Bioinformatic Analysis and Machine-Learning Strategies. Publication Status: Online-Only, [RefSeq, PubMed]; Low expression of MEOX2 is associated with poor survival in patients with breast cancer., [RefSeq, PubMed]; MEOX2 homeobox gene promotes growth of malignant gliomas., [RefSeq, PubMed]; MEOX2-mediated regulation of Cathepsin S promotes cell proliferation and motility in glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Mesenchyme homeobox 2 has a cancer-inhibiting function in breast carcinoma via affection of the PI3K/AKT/mTOR and ERK1/2 pathways., [RefSeq, PubMed]; Mesodermal transcription factor that plays a key role in somitogenesis and somitogenesis and limb muscle differentiation (By similarity). Required during limb development for normal appendicular muscle formation and for the normal regulation of myogenic genes (By similarity). May have a regulatory role when quiescent vascular smooth muscle cells reenter the cell cycle (By similarity). Also acts as a negative regulator of angiogenesis (PubMed:17074759, PubMed:20516212, PubMed:22206000). Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation (PubMed:17074759, PubMed:22206000). While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner (PubMed:22206000). Together with TCF15, regulates transcription in heart endothelial cells to regulate fatty acid transport across heart endothelial cells (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimer's disease. [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": 1, "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": "A4D127;B2R8I7;O75263;Q9UPL6", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0000785 chromatin", "go_biological_process": "GO:0090051 negative regulation of cell migration involved in sprouting angiogenesis;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:0061053 somite development", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "P50222-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86TA1-1", "uniprot_id": "MOB3B_HUMAN", "mass": 25464.0, "length": 216, "protein_name": "MOB kinase activator 3B", "gene_name": "MOB3B", "organism": "Human", "refseq_name": "MOB kinase activator 3B", "refseq_ac": "NP_079037", "gene_names_uniprotkb": "MOB3B; C9orf35; MOBKL2B", "gene_names_refseq": "C9orf35; MOB1D; MOB3B; MOBKL2B", "protein_names_uniprotkb": "MOB kinase activator 3B; MOB kinase activator-like 2B; Mob1 homolog 2b; Mps one binder kinase activator-like 2B", "protein_names_refseq": "MOB kinase activator 3B; MOB kinase activator-like 2B; MOB1, Mps One Binder kinase activator-like 2B; mob1 homolog 2b; monopolar spindle 1 binding, MOB1, domain containing; mps one binder kinase activator-like 2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:79817)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "18519826;19240061;22645359;25892735;26130958;26154972;28228285;28792927;28832583;29557506;29769354;30484775;31217245;31530632;31844290;32357974;33091337;33298915;33633747;33717175;33912179", "class_list": "", "function": "Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Low levels of hMOB3B are closely associated with aggressive clinicopathologic features in patients with prostate cancer. The results suggest that hMOB3B may act as a tumor suppressor in human prostate cancer., [RefSeq, PubMed]; Modulates LATS1 expression in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) 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": 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": "Q8NEB4;Q9H8V4", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0030295 protein kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0035330 regulation of hippo signaling;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q86TA1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08697-1", "uniprot_id": "A2AP_HUMAN", "mass": 54566.0, "length": 491, "protein_name": "Alpha-2-antiplasmin", "gene_name": "SERPINF2", "organism": "Human", "refseq_name": "alpha-2-antiplasmin isoform a precursor", "refseq_ac": "NP_000925", "gene_names_uniprotkb": "SERPINF2; AAP; PLI", "gene_names_refseq": "A2AP; AAP; ALPHA-2-PI; API; PLI; SERPINF2; alpha2AP", "protein_names_uniprotkb": "Alpha-2-antiplasmin; Alpha-2-AP; Alpha-2-PI; Alpha-2-plasmin inhibitor; Serpin F2", "protein_names_refseq": "alpha-2-AP; alpha-2-antiplasmin isoform a precursor; alpha-2-plasmin inhibitor; serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2; serpin F2; serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2", "tax_id": 9606, "disease": "familial encephalopathy with neuroserpin inclusion bodies (Disease Ontology:DOID:0050831); alpha-2-plasmin inhibitor deficiency (Disease Ontology:DOID:0060601); COVID-19 (Disease Ontology:DOID:0080600); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); familial hyperlipidemia (Disease Ontology:DOID:1168); coronary artery disease (Disease Ontology:DOID:3393); systemic scleroderma (Disease Ontology:DOID:418)", "pathway": " (hsa:5345); (R-HSA-114608); (R-HSA-75205)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10583218;11237011;12007600;134998;1385210;1435334;14630798;14751930;15297306;15853774;16223769;16335952;17666018;1829461;1846368;21075;21081667;2156852;2166055;2318848;23193360;23483454;23640497;2433286;2434496;2440681;2456616;24900876;2496749;2503541;2521625;2544876;2572590;27726376;2830248;28514659;28832583;2935528;29557506;2962641;29671580;29741879;3011081;3023326;30459171;3090045;31154438;31653347;3166140;31844290;32034861;32350084;32373127;32815915;32938616;32945390;33091337;33592498;33968037;34357683;34830419;35051231;35251023;35580925;3818581;38665916;6433976;6448849;6457647;7199524;8467233;8484741;9169621;9414276;9886297", "class_list": "", "function": "Decrease in matrix metalloproteinase3 activity in systemic sclerosis fibroblasts causes alpha2antiplasmin and extracellular matrix deposition, and contributes to fibrosis development., [RefSeq, PubMed]; Fibrinogen and Antifibrinolytic Proteins: Interactions and Future Therapeutics. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Human alpha2-antiplasmin is glycated and acetylated at several sites, with the possible competition between acetylation and glycation at K-182 and K-448; finding suggests possibly relevant alterations to alpha2-antiplasmin function at high glycemia and during aspirin use, [RefSeq, PubMed]; Interaction of glycated and acetylated human alpha2-antiplasmin with fibrin clots., [RefSeq, PubMed]; Serine protease inhibitor. The major targets of this inhibitor are plasmin and trypsin, but it also inactivates matriptase-3/TMPRSS7 and chymotrypsin., [UniProtKB, PubMed]; This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [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": 3, "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": 3, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 5, "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": 8, "disease_count": 9, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B4E1B7;Q8N5U7;Q9UCG2;Q9UCG3", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0042803 protein homodimerization activity;GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0009986 cell surface;GO:0031012 extracellular matrix;GO:0031093 platelet alpha granule lumen", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0046330 positive regulation of JNK cascade;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0006953 acute-phase response;GO:0002034 maintenance of blood vessel diameter homeostasis by renin-angiotensin", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "P08697-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P22303-1", "uniprot_id": "ACES_HUMAN", "mass": 67796.0, "length": 614, "protein_name": "Acetylcholinesterase", "gene_name": "ACHE", "organism": "Human", "refseq_name": "acetylcholinesterase isoform E4-E6 precursor", "refseq_ac": "NP_000656", "gene_names_uniprotkb": "ACHE", "gene_names_refseq": "ACEE; ACHE; ARACHE; N-ACHE; YT", "protein_names_uniprotkb": "Acetylcholinesterase; 3.1.1.7; AChE", "protein_names_refseq": "Yt blood group; acetylcholinesterase (Cartwright blood group); acetylcholinesterase isoform E4-E6 precursor; apoptosis-related acetylcholinesterase", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); Hirschsprung's disease (Disease Ontology:DOID:10487); Alzheimer's disease (Disease Ontology:DOID:10652); Huntington's disease (Disease Ontology:DOID:12858); Parkinson's disease (Disease Ontology:DOID:14330); epilepsy (Disease Ontology:DOID:1826); cannabis dependence (Disease Ontology:DOID:1849); leptospirosis (Disease Ontology:DOID:2297); multiple sclerosis (Disease Ontology:DOID:2377); myasthenia gravis (Disease Ontology:DOID:437); acute stress disorder (Disease Ontology:DOID:6088); subacute delirium (Disease Ontology:DOID:8645); bacterial meningitis (Disease Ontology:DOID:9470); type 1 diabetes mellitus (Disease Ontology:DOID:9744); drug dependence (Disease Ontology:DOID:9974); heroin dependence (Disease Ontology:DOID:9976); obsolete yt blood group antigen (MONDO:MONDO:0020626)", "pathway": " (hsa:43); (R-HSA-112311); (R-HSA-1483191); (R-HSA-422085)", "pathway_count": 4, "publication_count": 98, "publication_id_list": "10.1101/2023.09.13.557529;10100195;10191259;10604470;10677542;10841902;10893425;11053835;11068039;11089560;11105732;11237011;11239002;11259791;11420179;11600536;11698453;11756331;11985878;12050285;12055623;12216837;12221122;12354137;12414809;12553549;14599721;14973250;15066208;15126574;15142980;1517212;15175005;15256494;15526038;15604212;15715662;15911624;17007874;17158099;17289852;1748670;17561512;17595255;18396350;18443287;18457821;18694939;19051205;19280057;19327128;19628676;19915674;20338778;20408548;21926997;2263619;23035744;23090970;23328280;23679855;23901139;24190977;24732803;24828044;26005868;26048993;26945070;2714437;27862975;28821867;28904123;29557506;29769354;30429286;3057511;31154438;31530632;31844290;31848261;32157095;34171305;34561969;35580925;36010968;36284347;37544578;37813167;37938771;38454407;38768263;7836436;8299725;8488842;8565226;9260930;9593753;9640563", "class_list": "glycogene", "function": "Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. AChE activity may constitute a sensitive biomarker of RBC ageing in vivo, and thus, may be of aid in understanding the effects of transfusion[provided by RefSeq, Sep 2019]., [RefSeq]; Association of NOTCH4 and ACHE gene polymorphism in Alzheimer's disease of Gujarat cohort., [RefSeq, PubMed]; Choline-acetyltransferase (ChAT) and acetylcholinesterase (AChE) in the human infant dorsal motor nucleus of the Vagus (DMNV), and alterations according to sudden infant death syndrome (SIDS) category., [RefSeq, PubMed]; Hydrolyzes rapidly the acetylcholine neurotransmitter released into the synaptic cleft allowing to terminate the signal transduction at the neuromuscular junction. Role in neuronal apoptosis., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; PLA2G4A and ACHE modulate lipid profiles via glycerophospholipid metabolism in platinum-resistant gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Preferential Door for Ligand Binding and Unbinding Pathways in Inhibited Human Acetylcholinesterase., [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 644, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 17, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A4D2E2;B7ZKZ0;D6W5X7;Q16169;Q29S23;Q2M324;Q504V3;Q53F46;Q86TM9;Q86YX9;Q9BXP7", "ec_number_list": "3.1.1.8;3.1.1.-;3.1.1.7", "go_molecular_function": "GO:0016787 hydrolase activity;GO:0042166 acetylcholine binding;GO:0042803 protein homodimerization activity;GO:0001540 amyloid-beta binding;GO:0005518 collagen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0050714 positive regulation of protein secretion;GO:0001507 acetylcholine catabolic process in synaptic cleft;GO:0002076 osteoblast development", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "P22303-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A7KAX9-1", "uniprot_id": "RHG32_HUMAN", "mass": 230529.0, "length": 2087, "protein_name": "Rho GTPase-activating protein 32", "gene_name": "ARHGAP32", "organism": "Human", "refseq_name": "rho GTPase-activating protein 32 isoform 1", "refseq_ac": "NP_001136157", "gene_names_uniprotkb": "ARHGAP32; GRIT; KIAA0712; RICS", "gene_names_refseq": "ARHGAP32; GC-GAP; GRIT; PX-RICS; RICS; p200RhoGAP; p250GAP", "protein_names_uniprotkb": "Rho GTPase-activating protein 32; Brain-specific Rho GTPase-activating protein; GAB-associated Cdc42/Rac GTPase-activating protein; GC-GAP; GTPase regulator interacting with TrkA; Rho-type GTPase-activating protein 32; Rho/Cdc42/Rac GTPase-activating protein RICS; RhoGAP involved in the beta-catenin-N-cadherin and NMDA receptor signaling; p200RhoGAP; p250GAP", "protein_names_refseq": "GAB-associated CDC42; GAB-associated Cdc42/Rac GTPase-activating protein; GTPase regulator interacting with TrkA; GTPase-activating protein for Cdc42 and Rac1; RhoGAP involved in the -catenin-N-cadherin and NMDA receptor signaling; brain-specific Rho GTP-ase-activating protein; brain-specific Rho GTPase-activating protein; rac GTPase activating protein; rho GTPase-activating protein 32 isoform 1; rho GTPase-activating protein 32; rho-type GTPase-activating protein 32; rho/Cdc42/Rac GTPase-activating protein RICS; rhoGAP involved in the beta-catenin-N-cadherin and NMDA receptor signaling", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:9743); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013406); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013423); (R-HSA-9035034); (R-HSA-9768727)", "pathway_count": 14, "publication_count": 433, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10619026;10652265;10699171;10699464;10724160;10847683;10873388;10873802;10958683;10967094;11007481;11058585;11085924;11145705;11149925;11185749;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11784792;11803464;11804587;11804589;11804590;11864571;11884391;11912491;11919634;11948177;11956649;11961559;11967128;12071859;12093360;12096337;12172552;12177196;12195014;12221077;12221096;12242347;12351724;12376551;12432077;12446789;12454018;12456725;12464619;12473120;12477392;12531887;12531901;12546821;12547822;12577064;12650940;12665586;12773384;12788081;12819203;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15169870;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15542837;15546864;15579468;15601624;15611138;15710388;15728722;15814684;15850391;15858067;15866170;15897194;15944396;16002401;16081809;16112081;16116428;16184169;16217026;16243035;16243036;16339170;16467373;16473593;16492808;16507994;16519628;1660188;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16968698;17027967;17060455;17064668;17077126;17145773;17158234;17196961;17198702;17214551;17244649;17261850;17269730;17562871;17583407;17599059;17663722;17698854;17702745;17765681;17804252;17916560;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18191593;18218625;18249095;18347018;18363964;18396277;18426980;18491227;18653540;18662984;18697831;18786931;18802007;18829452;18835169;18838382;18929667;19258391;19269969;19494238;19534724;19581409;19605563;19635168;19673492;19690332;19713215;19934221;20030946;20101212;20233848;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21119010;21148482;21151158;21351730;21373644;21378159;21406692;21454492;21542010;21565175;21576392;21613211;21621533;21685891;21699497;21730051;21757538;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22375065;22407364;22461490;22475431;22571869;22608513;22665057;22673745;22734669;22790947;22911862;22970203;22971344;22992742;23029280;23087206;23096567;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23757206;23870057;23870313;23940355;24086303;24102721;24128008;24259668;24275569;24297911;24335996;24352656;24355937;24584464;24623723;24659802;24681004;24714562;24859002;24933155;24960694;24966173;24996924;25024229;25211221;25425145;25428919;25576301;25645385;25668492;25673874;25678704;25704760;25721503;25746724;25795300;25862245;25963737;26016997;26129894;26299518;26371245;26416966;26529257;26598554;26628301;26887924;27096001;27117132;27145964;27216196;27255086;27278019;27481945;27555588;27566826;27713499;27798618;27806292;27852748;27986909;28028151;28112683;28114311;28196833;28356423;28486133;28512129;28584191;28825699;28832583;28860633;28947137;29089502;29146911;29242379;29358323;29382922;29557506;29605689;29776664;29786170;30061681;30429286;30853411;31105010;31389670;31844290;31871319;32157095;32203420;32302585;32387766;33298915;33592498;33912179;33968037;34087483;34357683;35051231;35132862;35580925;35662113;36284347;37343594;39531497;41350704;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7982500;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8945468;8990121;8994827;9013646;9099726;9111050;9113980;9252344;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9705280;9792683;9822598;9822605;9829970;9843499;9846874;9857026;9988689", "class_list": "", "function": "Association between Grit and depressive symptoms at the timing of job start among medical residents during the COVID-19 pandemic in Japan: a cross-sectional study., [RefSeq, PubMed]; Circ_ARHGAP32 acts as miR-665 sponge to upregulate FGF2 to promote ox-LDL induced vascular smooth muscle cells proliferation and migration., [RefSeq, PubMed]; GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases. May be involved in the differentiation of neuronal cells during the formation of neurite extensions. Involved in NMDA receptor activity-dependent actin reorganization in dendritic spines. May mediate cross-talks between Ras- and Rho-regulated signaling pathways in cell growth regulation. Isoform 2 has higher GAP activity (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Involvement in the regulation of neurite outgrowth by exerting its RhoGAP activity and that its cellular activity may be regulated through interaction with Src-like tyrosine kinases, [RefSeq, PubMed]; RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]., [RefSeq]; RICS may regulate dendritic spine morphology and strength by modulating Rho GTPases, [RefSeq, PubMed]; These results suggest that Grit, a novel TrkA-interacting protein, regulates neurite outgrowth by modulating the Rho family of small GTPases., [RefSeq, PubMed]; This article analyzes Rac activation during live neutrophil chemotaxis., [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": 10, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 43, "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": "I7H0B0;O94820;Q86YL6;Q8IUG4;Q9BWG3", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:1901981 phosphatidylinositol phosphate binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005938 cell cortex", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007264 small GTPase-mediated signal transduction;GO:0061001 regulation of dendritic spine morphogenesis;GO:0150052 regulation of postsynapse assembly;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 43.8, "record_id": "A7KAX9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P63244-1", "uniprot_id": "RACK1_HUMAN", "mass": 35077.0, "length": 317, "protein_name": "Small ribosomal subunit protein RACK1", "gene_name": "RACK1", "organism": "Human", "refseq_name": "small ribosomal subunit protein RACK1", "refseq_ac": "NP_006089", "gene_names_uniprotkb": "RACK1; GNB2L1; HLC7; PIG21", "gene_names_refseq": "GNB2L1; Gnb2-rs1; H12.3; HLC-7; PIG21; RACK1", "protein_names_uniprotkb": "Small ribosomal subunit protein RACK1; Cell proliferation-inducing gene 21 protein; Guanine nucleotide-binding protein subunit beta-2-like 1, N-terminally processed; Guanine nucleotide-binding protein subunit beta-2-like 1; Guanine nucleotide-binding protein subunit beta-like protein 12.3; HLC-7; Human lung cancer oncogene 7 protein; Receptor for activated C kinase 1; Receptor for activated C kinase; Receptor of activated protein C kinase 1, N-terminally processed; Receptor of activated protein C kinase 1", "protein_names_refseq": "cell proliferation-inducing gene 21 protein; guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1; guanine nucleotide binding protein beta polypeptide 2-like 1; guanine nucleotide-binding protein subunit beta-2-like 1; guanine nucleotide-binding protein subunit beta-like protein 12.3; human lung cancer oncogene 7 protein; lung cancer oncogene 7; proliferation-inducing gene 21; protein homologous to chicken B complex protein, guanine nucleotide binding; receptor of activated protein C kinase 1; receptor of activated protein kinase C 1; small ribosomal subunit protein RACK1", "tax_id": 9606, "disease": "transient cerebral ischemia (Disease Ontology:DOID:224)", "pathway": " (hsa:10399); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5626978); (R-HSA-9766229)", "pathway_count": 5, "publication_count": 271, "publication_id_list": "10203015;10521396;10837247;10849009;11098060;11181075;11237011;11279199;11312657;11427719;11435466;11577081;11884618;11956211;12167698;12391233;12400005;12589061;12709429;12958311;14500341;14517306;14654843;14699138;14716293;15024054;15104674;15140893;15240704;15258597;15592455;15596539;15870263;16260783;16282325;16408927;16603398;16682944;16829951;16829952;16953224;17074750;17108144;17244529;17314102;17702576;17956333;18057008;18088317;18178551;18258429;18446792;18567578;18621736;18767875;18954305;18991276;19278658;19289468;19416807;19423701;19608861;19674157;19785988;19910467;20005846;20010870;20058876;20068231;20080539;20185725;20219915;20304918;20305658;20385093;20499158;20529362;20541605;20573744;20976005;21098120;21212275;21235526;21347310;21408173;22174419;22179575;22223895;22297296;22435550;22523568;22645359;22848449;22869111;23186163;23301498;23313255;23481700;23636399;23746843;23783831;24006492;24098568;24246475;24323043;24366607;24524803;24715725;24726323;24726327;2499885;25253721;25416947;25418920;25469497;25502872;25565632;25576301;25645385;25810538;26024233;26154972;26280083;26344099;26549445;26768311;26811146;26900751;26929215;26992070;26997266;27307491;27458237;27530921;27545878;27552911;27591049;27600516;27846572;27862975;27920218;28132843;28161490;28218747;28228285;28506461;28636603;28649982;28797110;28832583;28834231;28855257;28904123;28920952;28920954;29242379;29331515;29351928;29356040;29393594;29437277;29454068;29493099;29508533;29557506;29632046;29632711;29642005;29743600;29786170;30146158;30315122;30361438;30397120;30410026;30420664;30429286;30524438;30779550;30833945;30988283;31143369;31154438;31217245;31222486;31366726;31511692;31530632;31611695;31705928;31844290;31848261;31998317;32119511;32157095;32161166;32320653;32350084;32357974;32387766;32488085;32522876;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33469115;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34093574;34162724;34171305;34357683;34363755;34405274;34433824;34496247;34509645;34561969;34725712;34876703;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35580925;35941131;36010968;36241641;36284347;36580660;37217939;37758692;37938771;38157925;38315284;38386231;38665916;38813597;39097918;39990658;40596516;40914422;7531702;7667287;7734418;8663014;8808629;9029102;9049422;9065443;9234479;9584165;9634482", "class_list": "glycogene", "function": "(Microbial infection) Binds to Y.pseudotuberculosis yopK which leads to inhibition of phagocytosis and survival of bacteria following infection of host cells., [UniProtKB, PubMed]; (Microbial infection) Contributes to the cap-independent internal ribosome entry site (IRES)-mediated translation by some RNA viruses., [UniProtKB, PubMed]; (Microbial infection) Enhances phosphorylation of HIV-1 Nef by PKCs., [UniProtKB, PubMed]; (Microbial infection) In case of poxvirus infection, remodels the ribosomes so that they become optimal for the viral mRNAs (containing poly-A leaders) translation but not for host mRNAs., [UniProtKB, PubMed]; Deciphering the neuroprotective mechanisms of RACK1 in cerebral ischemia-reperfusion injury: Pioneering insights into mitochondrial autophagy and the PINK1/Parkin axis., [RefSeq, PubMed]; Identification of RACK1 as a novel regulator of non-structural protein 4 of chikungunya virus., [RefSeq, PubMed]; OTUB1 accelerates hepatocellular carcinoma by stabilizing RACK1 via its non-canonical ubiquitination., [RefSeq, PubMed]; PIN1 promotes the metastasis of cholangiocarcinoma cells by RACK1-mediated phosphorylation of ANXA2., [RefSeq, PubMed]; Scaffolding protein involved in the recruitment, assembly and/or regulation of a variety of signaling molecules. Interacts with a wide variety of proteins and plays a role in many cellular processes. Component of the 40S ribosomal subunit involved in translational repression (PubMed:23636399). Involved in the initiation of the ribosome quality control (RQC), a pathway that takes place when a ribosome has stalled during translation, by promoting ubiquitination of a subset of 40S ribosomal subunits (PubMed:28132843). Binds to and stabilizes activated protein kinase C (PKC), increasing PKC-mediated phosphorylation. May recruit activated PKC to the ribosome, leading to phosphorylation of EIF6. Inhibits the activity of SRC kinases including SRC, LCK and YES1. Inhibits cell growth by prolonging the G0/G1 phase of the cell cycle. Enhances phosphorylation of BMAL1 by PRKCA and inhibits transcriptional activity of the BMAL1-CLOCK heterodimer. Facilitates ligand-independent nuclear translocation of AR following PKC activation, represses AR transactivation activity and is required for phosphorylation of AR by SRC. Modulates IGF1R-dependent integrin signaling and promotes cell spreading and contact with the extracellular matrix. Involved in PKC-dependent translocation of ADAM12 to the cell membrane. Promotes the ubiquitination and proteasome-mediated degradation of proteins such as CLEC1B and HIF1A. Required for VANGL2 membrane localization, inhibits Wnt signaling, and regulates cellular polarization and oriented cell division during gastrulation. Required for PTK2/FAK1 phosphorylation and dephosphorylation. Regulates internalization of the muscarinic receptor CHRM2. Promotes apoptosis by increasing oligomerization of BAX and disrupting the interaction of BAX with the anti-apoptotic factor BCL2L. Inhibits TRPM6 channel activity. Regulates cell surface expression of some GPCRs such as TBXA2R. Plays a role in regulation of FLT1-mediated cell migration. Involved in the transport of ABCB4 from the Golgi to the apical bile canalicular membrane (PubMed:19674157). Promotes migration of breast carcinoma cells by binding to and activating RHOA (PubMed:20499158). Acts as an adapter for the dephosphorylation and inactivation of AKT1 by promoting recruitment of PP2A phosphatase to AKT1 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 19, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 212, "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": "B3KTJ0;D3DWS0;P25388;P99049;Q53HU2;Q5J8M6;Q5VLR4;Q6FH47", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003723 RNA binding;GO:0005102 signaling receptor binding;GO:0008047 enzyme activator activity;GO:0019899 enzyme binding", "go_cellular_component": "GO:1990630 IRE1-RACK1-PP2A complex;GO:0001891 phagocytic cup;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:1900102 negative regulation of endoplasmic reticulum unfolded protein response;GO:1903751 negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide;GO:0001934 positive regulation of protein phosphorylation;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 27.8, "record_id": "P63244-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q08117-1", "uniprot_id": "TLE5_HUMAN", "mass": 21970.0, "length": 197, "protein_name": "TLE family member 5", "gene_name": "TLE5", "organism": "Human", "refseq_name": "TLE family member 5 isoform b", "refseq_ac": "NP_001121", "gene_names_uniprotkb": "TLE5; AES; GRG5; GRG", "gene_names_refseq": "AES-1; AES-2; AES; ESP1; GRG5; GRG; Grg-5; TLE5", "protein_names_uniprotkb": "TLE family member 5; Amino enhancer of split; Amino-terminal enhancer of split; Gp130-associated protein GAM; Grg-5; Groucho-related protein 5; Protein ESP1; Protein GRG; TLE family member 5, transcriptional modulator", "protein_names_refseq": "TLE family member 5 isoform b; amino-terminal enhancer of split; gp130-associated protein GAM; groucho-related protein 5", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); colon cancer (Disease Ontology:DOID:219)", "pathway": " (hsa:166); (R-HSA-4641265)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10375506;10485845;10559189;10660609;10748198;10831834;10919662;11237011;11266540;11290324;11390640;11934263;12441302;12711682;15121853;15187083;15525529;15768032;16547505;18621708;18721877;19460168;19651622;20068231;20112406;20405012;22304967;23256519;23481700;24366607;24714562;25576301;25880248;26154972;26728094;26992070;27600516;27893789;27920218;28832583;28834231;28904123;29242379;29351928;29393594;29485866;29493099;29508533;29557506;29786170;29789417;30484775;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33754069;33968037;34087483;34171305;35051231;35318648;35580925;36010968;37217939;37800625;37938771;38665916;39531497;8365415;8955148;9751710;9783587;9809752;9819412;9887105", "class_list": "", "function": "The CK1delta/epsilon-AES axis regulates tumorigenesis and metastasis in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to the groucho/TLE family of proteins, can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional corepressor. Acts as a dominant repressor towards other family members. Inhibits NF-kappa-B-regulated gene expression. May be required for the initiation and maintenance of the differentiated state. Essential for the transcriptional repressor activity of SIX3 during retina and lens development., [UniProtKB, PubMed, PubMed]; Unrevealed roles of extracellular enolase-1 (ENO1) in promoting glycolysis and pro-cancer activities in multiple myeloma via hypoxia-inducible factor 1alpha., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2RBL0;Q12808;Q14CJ1;Q96TG9;Q9UDY9", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0003714 transcription corepressor activity", "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:0010629 negative regulation of gene expression;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q08117-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51828-1", "uniprot_id": "ADCY7_HUMAN", "mass": 120308.0, "length": 1080, "protein_name": "Adenylate cyclase type 7", "gene_name": "ADCY7", "organism": "Human", "refseq_name": "adenylate cyclase type 7 isoform 1", "refseq_ac": "NP_001105", "gene_names_uniprotkb": "ADCY7; KIAA0037", "gene_names_refseq": "AC7; ADCY7", "protein_names_uniprotkb": "Adenylate cyclase type 7; 2.7.7.85; 4.6.1.1; ATP pyrophosphate-lyase 7; Adenylate cyclase type VII; Adenylyl cyclase 7; Cyclic di-AMP synthase ADCY7", "protein_names_refseq": "ATP pyrophosphate-lyase 7; adenylate cyclase type 7 isoform 1; adenylate cyclase type 7; adenylate cyclase type VII; adenylyl cyclase 7; cyclic di-AMP synthase ADCY7", "tax_id": 9606, "disease": "", "pathway": " (hsa:113); (R-HSA-163359); (R-HSA-163615); (R-HSA-164378); (R-HSA-170660); (R-HSA-170670); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-432040); (R-HSA-5610787); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-9856530)", "pathway_count": 15, "publication_count": 319, "publication_id_list": "10075700;10376603;10496952;10579907;10639123;10649434;10714768;10764742;10861086;10954748;10966113;11007482;11034202;11043579;11076974;11113152;11237011;11313909;11375483;11773440;11832410;11853546;11968001;12036966;12058044;12106601;12117970;12120503;12176338;12180353;12192414;12194985;12417718;12435627;12454008;12724311;12801959;12860470;1325798;1347957;13549488;1372004;1373524;14514735;14592814;14603322;14671004;14675202;14701836;15087129;1510932;15161916;1517224;15245432;15304325;1534149;15539556;15581358;15703994;15705806;15718470;15765929;15769620;15879134;15930098;15951850;16061793;16120822;16136078;16229832;16254602;16311594;16313925;16339192;16396903;16407073;16407156;16493421;1658606;16613843;16634148;16645038;16687412;16707575;16780920;16921024;16923326;17027958;17156409;17168849;17178220;17200122;17230639;17379646;17442700;17553904;17641202;17762891;17960137;18044684;18070890;18202181;18327258;18434541;18455992;18511455;18541530;18566127;18577758;18678926;18710921;18818202;18832070;19000668;19020623;19105585;19144687;19170255;19196978;19223390;19286674;19342448;19365551;19383790;1939224;19549984;19574955;19592253;19666503;19723632;19741198;19767740;19776033;19876791;19877275;19906846;19929708;19931550;19948480;19996169;20067783;20154143;20207148;20381629;20395968;20412786;20460306;20844016;20889716;20956384;21036126;21037092;2105456;21209331;2163110;21695114;21801010;21844907;22007132;22231273;22391300;22495674;23209152;23229509;23332756;23481700;23675550;23719536;23842570;23863937;2417744;24273487;24302888;24339784;24530924;24687066;24715725;24845016;24863049;24917297;2491850;24925320;24952464;24962572;2534964;25418920;2553411;2553705;25576301;25892735;26190834;26220344;26417854;26987903;26992070;27392633;2748346;27566546;27797339;27920218;28067910;28218747;28228285;2834384;28450397;28502923;28595943;2871555;28832583;28834231;28904123;29242379;29437277;29443750;29557506;29602314;29632046;29632711;2991279;30315122;30366671;30429286;3049610;30833991;3104109;31205027;31217245;3127824;31279028;31399091;31844290;31983287;32226383;32296767;32357974;32387766;32497535;32540603;32618402;32715661;32938616;32983136;33049737;33141586;33298915;33592498;33912179;33936100;33968037;34143288;34177802;34357683;34499618;34561969;34932366;35051231;35561310;35580925;36215666;36284347;36581221;4065330;6085243;7503232;7510718;7517665;7522622;7526388;7530449;7535000;7538665;7559455;7568118;7595566;7651538;7678419;7876172;7937899;8007951;8015379;8063828;8119955;8140421;8226994;8243272;8327893;8340388;8340414;8406495;8514797;8522976;8527267;8598224;8621513;8657103;8663304;8672451;8683474;8700127;8702633;8855281;8862523;9000504;9042338;9050880;9162098;9227644;9263355;9314552;9369468;9374639;9374640;9417641;9620797;9651336;9756892;9829975;9857068;9865521", "class_list": "", "function": "AC7 and miR-192 might be new biomarkers and therapeutic targets for patients with relapsed acute promyelocytic leukemia., [RefSeq, PubMed]; Adenylate cyclase that mediates formation of both cyclic AMP (cAMP) and cyclic di-AMP (c-di-AMP) (PubMed:11113152, PubMed:18541530, PubMed:23229509). Acts as a key mediator of G protein-coupled receptor signaling by catalyzing the formation of cAMP downstream of G protein-coupled receptors (PubMed:18541530, PubMed:23229509). Functions in G protein-coupled receptor signaling cascades activated by thrombin, sphingosine 1-phosphate, dopamine and anaphylatoxin C5a (PubMed:18541530, PubMed:23229509, PubMed:23842570). Mediates regulation of cAMP synthesis through synergistic action of the G alpha protein G(s) (GNAS) with G(13) (GNA13) (PubMed:18541530, PubMed:23229509). Also involved in inflammation by acting as a diadenylate cyclase that catalyzes the condensation of 2 ATP molecules into c-di-AMP (By similarity). Following activation by TLR9, mediates formation of c-di-AMP, which directly activates NLRP3, thereby promoting assembly and maturation of the NLRP3 inflammasome (By similarity). It is also required for the optimal functions of B- and T cells during adaptive immune responses by regulating cAMP synthesis in both B- and T-cells (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; CRISPR/Cas9 ADCY7 Knockout Stimulates the Insulin Secretion Pathway Leading to Excessive Insulin Secretion. Publication Status: Online-Only, [RefSeq, PubMed]; Hsa_circ_0008234 facilitates proliferation of cutaneous squamous cell carcinoma through targeting miR-127-5p to regulate ADCY7., [RefSeq, PubMed]; The ADCY7 deficiency resulted in decreased cell growth, elevated apoptosis, and lower c-Myc expression in cultured leukemia cells obtained from acute myeloid leukemia patients., [RefSeq, PubMed]; This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]., [RefSeq]; We discovered a 0.6% frequency missense variant in ADCY7., [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": 5, "reported_glycation": 0, "reported_snv": 29, "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": "A0AVA6", "ec_number_list": "4.6.1.1;3.6.5.-;2.7.7.85", "go_molecular_function": "GO:0004016 adenylate cyclase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0106408 diadenylate cyclase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0006171 cAMP biosynthetic process;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0071377 cellular response to glucagon stimulus", "synthesized_glycan_count": 0, "hit_score": 32.0, "record_id": "P51828-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2G9-1", "uniprot_id": "GO45_HUMAN", "mass": 44910.0, "length": 400, "protein_name": "Golgin-45", "gene_name": "BLZF1", "organism": "Human", "refseq_name": "golgin-45 isoform 2", "refseq_ac": "NP_001307901", "gene_names_uniprotkb": "BLZF1; JEM1", "gene_names_refseq": "BLZF1; GOLGIN-45; JEM-1s; JEM-1; JEM1", "protein_names_uniprotkb": "Golgin-45; Basic leucine zipper nuclear factor 1; JEM-1; p45 basic leucine-zipper nuclear factor", "protein_names_refseq": "JEM-1short protein; cytoplasmic protein; golgin-45 isoform 2; leucine zipper nuclear factor; p45 basic leucine-zipper nuclear factor", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:8548); (R-HSA-162658)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10679020;11056056;11237011;11238451;11285137;11306556;11408587;11447294;11739401;12695496;12839990;15678101;16533948;17182854;18167358;18385516;18434598;18669648;1902553;19413330;19651986;20068231;20083603;20214750;20937827;21478859;22726585;23186163;23481700;24715725;25576301;25645385;26992070;27600516;27846572;27862975;27920218;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29786170;30429286;30484775;30524438;30833945;31154438;31222486;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35580925;36010968;36215666;36241641;39442450;7737117;9129147;9150144;9753325", "class_list": "", "function": "Golgin45 assists mitosis via its nuclear localization sequence., [RefSeq, PubMed]; Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface., [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": 7, "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": "O15298;Q5T531;Q5T533;Q9GZX4", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0043001 Golgi to plasma membrane protein transport;GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9H2G9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P25800-1", "uniprot_id": "RBTN1_HUMAN", "mass": 17828.0, "length": 156, "protein_name": "Rhombotin-1", "gene_name": "LMO1", "organism": "Human", "refseq_name": "rhombotin-1 isoform b", "refseq_ac": "NP_001257357", "gene_names_uniprotkb": "LMO1; RBTN1; RHOM1; TTG1", "gene_names_refseq": "LMO1; RBTN1; RHOM1; TTG1", "protein_names_uniprotkb": "Rhombotin-1; Cysteine-rich protein TTG-1; LIM domain only protein 1; LMO-1; T-cell translocation protein 1", "protein_names_refseq": "LIM domain only 1 (rhombotin 1); LIM domain only protein 1; LMO-1; T-cell translocation gene 1; T-cell translocation protein 1; cysteine-rich protein TTG-1; rhombotin-1 isoform b; rhombotin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4004); (R-HSA-8939236)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "11237011;11528126;11847229;15678106;1703797;18280240;18701449;2052354;20887958;21571218;22012064;22897851;2311586;2501659;25043025;25394790;27137657;29557506;31819055;31830377;31844290;32157095;33717175;34076278;35051231;35580925", "class_list": "", "function": "ASCL1 and LMO1 directly regulate the expression of CRC genes, indicating that ASCL1 is a member and LMO1 is a coregulator of the ADRN neuroblastoma core regulatory circuitry. Publication Status: Online-Only, [RefSeq, PubMed]; Circ_0021087 acts as a miR-184 sponge and represses gastric cancer progression by adsorbing miR-184 and elevating FOSB expression., [RefSeq, PubMed]; LMO1 polymorphisms and the risk of neuroblastoma: Assessment of meta-analysis of case-control studies. Review article, [RefSeq, PubMed]; May be involved in gene regulation within neural lineage cells potentially by direct DNA binding or by binding to other transcription factors., [UniProtKB, PubMed]; This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "E9PSF5;Q4VBC5;Q8IXR0", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P25800-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14964-1", "uniprot_id": "HGS_HUMAN", "mass": 86192.0, "length": 777, "protein_name": "Hepatocyte growth factor-regulated tyrosine kinase substrate", "gene_name": "HGS", "organism": "Human", "refseq_name": "hepatocyte growth factor-regulated tyrosine kinase substrate", "refseq_ac": "NP_004703", "gene_names_uniprotkb": "HGS; HRS", "gene_names_refseq": "HGS; HRS", "protein_names_uniprotkb": "Hepatocyte growth factor-regulated tyrosine kinase substrate; Hrs; Protein pp110", "protein_names_refseq": "hepatocyte growth factor-regulated tyrosine kinase substrate; human growth factor-regulated tyrosine kinase substrate; protein pp110", "tax_id": 9606, "disease": "", "pathway": " (hsa:9146); (R-HSA-182971); (R-HSA-432720); (R-HSA-5689880); (R-HSA-6807004); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8875360); (R-HSA-9013420); (R-HSA-917729); (R-HSA-9635644); (R-HSA-9636383); (R-HSA-9706019)", "pathway_count": 13, "publication_count": 464, "publication_id_list": "10097102;10394364;10436022;10436028;10444327;10514377;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10652316;10766823;10769163;10861283;10953014;10982817;10983987;11071885;11076969;11081636;11082044;11139587;11231140;11237011;11239472;11247302;11333915;11454741;11459829;11470803;11516654;11517213;11532990;11563910;11566882;11577110;11588219;11604418;11687594;11694590;11741535;11823423;11877457;11877461;11889126;11894095;11894096;11919637;11923872;11927540;11988742;11994746;12057195;12072436;12086608;12213833;12218189;12221107;12234920;12234931;12244174;12429842;12447393;12451172;12464600;12475979;12551915;12593795;12593796;12686592;12717448;12847086;12900394;12917689;12917691;12944396;12952949;12953068;12958364;1317852;14505571;14555962;14581451;14602072;14617351;14622578;14622579;14624836;14661020;14662753;14726597;14985334;15021893;15053880;15075231;15117950;15123609;15134832;15218037;15252009;15260957;15280044;15318165;15339664;15350535;1535555;15465819;15473838;15475003;15502812;15502813;15509564;15556869;15592455;15649145;15671180;15701692;15703209;15728179;15772161;15802264;15828871;15895077;15916959;15916963;15962011;16103228;16113677;16155256;16159959;16212419;16214042;16215232;16227611;16326391;16371348;16407834;16410077;16459302;16460808;16462748;16497976;16516836;16707488;16723738;16798879;16867982;16880396;16901786;16903783;16964243;16964248;16973552;17016520;17018281;17035995;17101784;17116749;17158794;17178829;17267500;17290220;17360967;17443180;17456551;17494869;17504809;17512409;17522231;17540576;17609109;17652161;17662939;17681954;17713526;17762867;17765681;17873522;17978091;17980597;17981138;18032517;18083107;18093523;18166656;18172164;18199683;18388313;18467330;18474358;1847920;18632802;18636086;18669648;18675823;18775314;18790740;18819912;18819921;18981233;18987736;19015242;19019082;19054389;19064640;19092055;19109251;19135894;19140243;19188362;19278655;19287005;19296456;19296720;19363159;19398555;19413330;19424180;19458185;19490898;19536138;19559397;19575674;19603039;19608861;19651769;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19814798;19838211;19853559;19874889;19900460;19901323;19910467;20033059;20058876;20059951;20068231;20096447;20098737;20211604;20228808;20230749;20231386;20351096;20368735;20428113;20448150;20501646;20547754;20708039;20826345;20946875;21070952;21102408;2115402;21187331;21239494;21278753;21316588;21362556;21376233;21445324;21482805;21499258;21508312;21565175;21571647;21596315;21613550;21620353;21659512;21757351;21779028;21841790;21849505;21883765;21927000;21927001;21962517;21962518;21995445;22029577;22085928;22099461;22118466;22128162;22216260;22233676;22245496;22357968;22484487;22505844;2257624;22661428;22709582;22815487;22863004;22942912;23159851;23166352;23208509;23208550;23236378;23297414;23395819;23486064;23536704;23823722;23824326;23825189;23861397;23891661;24056413;24130457;24145166;24186068;24204276;24260525;24384571;24493797;24581490;24680432;24746795;24789820;24790097;24828152;24896179;24966051;25107275;25197364;25263444;25303366;25305019;25341920;25502872;25576301;25578727;25588945;25642820;25645385;25880248;26042225;26215701;26403691;26598620;26829388;26992070;27600516;27846572;27920218;28467828;28510447;28514659;28832583;2890644;29242379;29351928;29393594;29485866;29493099;29557506;30379171;30429286;30482832;30484775;30620550;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31871319;32119511;32157095;32161166;32350084;32387766;32488085;32502341;32737221;32897882;32938616;32938750;32983136;33123756;33214551;33392160;33592498;33912179;33968037;33981976;34019948;34171305;3417785;34357683;34433824;34509645;34561969;34725712;34932366;35008409;35051231;35132862;35138101;35154160;35251023;35254053;35513511;35580925;36010968;36215666;36241641;36284347;36484721;37340703;37938771;38665916;38838015;39531497;39534244;40307207;6146630;7541030;7542744;7569928;7578059;7657591;7822302;7877694;8374173;8524399;8552632;8553074;8621719;8670264;8837779;9092476;9100026;9169477;9252367;9303539;9407053;9427626;9428629;9630564;9635431;9723620;9733768;9736607;9812899", "class_list": "", "function": "HRS Regulates Small Extracellular Vesicle PD-L1 Secretion and Is Associated with Anti-PD-1 Treatment Efficacy., [RefSeq, PubMed]; Involved in intracellular signal transduction mediated by cytokines and growth factors. When associated with STAM, it suppresses DNA signaling upon stimulation by IL-2 and GM-CSF. Could be a direct effector of PI3-kinase in vesicular pathway via early endosomes and may regulate trafficking to early and late endosomes by recruiting clathrin. May concentrate ubiquitinated receptors within clathrin-coated regions. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with STAM (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes. May contribute to the efficient recruitment of SMADs to the activin receptor complex. Involved in receptor recycling via its association with the CART complex, a multiprotein complex required for efficient transferrin receptor recycling but not for EGFR degradation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene regulates endosomal sorting and plays a critical role in the recycling and degradation of membrane receptors. The encoded protein sorts monoubiquitinated membrane proteins into the multivesicular body, targeting these proteins for lysosome-dependent degradation. [provided by RefSeq, Dec 2010]., [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": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "Q9NR36", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019904 protein domain specific binding;GO:0035091 phosphatidylinositol binding;GO:0043130 ubiquitin binding;GO:0044389 ubiquitin-like protein ligase binding", "go_cellular_component": "GO:0033565 ESCRT-0 complex;GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0010324 membrane invagination;GO:0036258 multivesicular body assembly;GO:0043328 protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;GO:0007165 signal transduction;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 47.7, "record_id": "O14964-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z3S9-1", "uniprot_id": "NT2NA_HUMAN", "mass": 25835.0, "length": 236, "protein_name": "Notch homolog 2 N-terminal-like protein A", "gene_name": "NOTCH2NLA", "organism": "Human", "refseq_name": "notch homolog 2 N-terminal-like protein A isoform 1", "refseq_ac": "NP_982283", "gene_names_uniprotkb": "NOTCH2NLA; N2N; NOTCH2NL", "gene_names_refseq": "N2N; NOTCH2NLA; NOTCH2NL", "protein_names_uniprotkb": "Notch homolog 2 N-terminal-like protein A; Notch homolog 2 N-terminal-like protein", "protein_names_refseq": "Notch homolog 2 N-terminal like protein; notch homolog 2 N-terminal-like protein A isoform 1; notch homolog 2 N-terminal-like protein A", "tax_id": 9606, "disease": "", "pathway": " (hsa:388677); (R-HSA-2979096); (R-HSA-9911233)", "pathway_count": 3, "publication_count": 46, "publication_id_list": "10.1074/mcp.M114.046862;10206645;10551863;10934472;10958687;11171333;11237011;11518718;11740940;11823422;11861489;12209127;12530964;14567914;14673143;15569487;15760269;15824097;15829515;16093323;16773578;17003037;18043734;18077452;1840698;18418349;18469519;20156974;21632553;22658935;22658936;24842903;25813380;29314611;29561261;29856954;29856955;3153318;32330268;803282;9207787;9207788;9384573;9604939;9620803;9651681", "class_list": "", "function": "Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels., [RefSeq, PubMed]; Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29561261, PubMed:29856954, PubMed:29856955). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The emergence of human-specific NOTCH2NL genes may have contributed to the rapid evolution of the larger human neocortex, accompanied by loss of genomic stability at the 1q21.1 locus and resulting recurrent neurodevelopmental disorders, [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": 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": "Q5BKT8;Q5VTG9;Q5XG84;Q6P192;Q8NC23;Q8WUQ9;Q96FY1", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005112 Notch binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm", "go_biological_process": "GO:0007219 Notch signaling pathway;GO:0030154 cell differentiation;GO:0021987 cerebral cortex development;GO:0045747 positive regulation of Notch signaling pathway;GO:0048731 system development", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q7Z3S9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08319-1", "uniprot_id": "ADH4_HUMAN", "mass": 40222.0, "length": 380, "protein_name": "All-trans-retinol dehydrogenase [NAD(+)] ADH4", "gene_name": "ADH4", "organism": "Human", "refseq_name": "all-trans-retinol dehydrogenase [NAD(+)] ADH4 isoform 2", "refseq_ac": "NP_000661", "gene_names_uniprotkb": "ADH4; ADH2", "gene_names_refseq": "ADH-2; ADH4; HEL-S-4", "protein_names_uniprotkb": "All-trans-retinol dehydrogenase [NAD(+)] ADH4; 1.1.1.105; Alcohol dehydrogenase 2; Alcohol dehydrogenase 4; Alcohol dehydrogenase class II pi chain", "protein_names_refseq": "alcohol dehydrogenase 2; alcohol dehydrogenase class II pi chain; aldehyde reductase; all-trans-retinol dehydrogenase [NAD(+)] ADH4 isoform 2; all-trans-retinol dehydrogenase [NAD(+)] ADH4; epididymis secretory protein Li 4", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741)", "pathway": " (hsa:127); (R-HSA-5365859); (R-HSA-71384)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "10329026;10369264;10441588;10514444;10631996;10697413;10839978;10843999;11007799;11237011;11245473;12036956;12226107;12680773;14532297;14596915;16081420;16788062;17279314;1755855;18039331;18196;18805086;1889753;1985938;20166139;20616185;20801113;21529158;21621639;21851338;22019272;224930;23220587;24275569;270680;28904123;2935875;29557506;29632711;3013304;3036213;31154438;31768945;3278908;32938616;33556337;3365377;34019948;35437765;36553522;37074911;4065146;427099;4504607;4748759;6395883;8074657;8493914;9228021;9677409;9705317;9982", "class_list": "", "function": "A novel mechanism underlying alcohol dehydrogenase expression: hsa-miR-148a-3p promotes ADH4 expression via an AGO1-dependent manner in control and ethanol-exposed hepatic cells., [RefSeq, PubMed]; Analysis of HCRTR2, GNB3, and ADH4 Gene Polymorphisms in a Southeastern European Caucasian Cluster Headache Population., [RefSeq, PubMed]; Catalyzes the NAD-dependent oxidation of either all-trans-retinol or 9-cis-retinol (PubMed:17279314). Also oxidizes long chain omega-hydroxy fatty acids, such as 20-HETE, producing both the intermediate aldehyde, 20-oxoarachidonate and the end product, a dicarboxylic acid, (5Z,8Z,11Z,14Z)-eicosatetraenedioate (PubMed:16081420). Also catalyzes the reduction of benzoquinones (PubMed:10514444)., [UniProtKB, PubMed, PubMed, PubMed]; No significant association between SNPs in the CLOCK and ADH4 genes and susceptibility to cluster headaches: A systematic review and meta-analysis., [RefSeq, PubMed]; Novel Insights into MEG3/miR664a-3p/ADH4 Axis and Its Possible Role in Hepatocellular Carcinoma from an in Silico Perspective. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K470;B4DIE7;C9J4A9;Q8TCD7", "ec_number_list": "1.1.1.105;1.1.1.62;1.1.1.239;1.1.1.209;1.1.1.53;1.1.1.315;1.1.1.1;1.1.1.-;1.1.1.284;1.1.1.66", "go_molecular_function": "GO:0004022 alcohol dehydrogenase (NAD+) activity;GO:0008270 zinc ion binding;GO:0051903 S-(hydroxymethyl)glutathione dehydrogenase [NAD(P)+] activity;GO:0003960 quinone reductase (NADPH) activity;GO:0004032 aldose reductase (NADPH) activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0046294 formaldehyde catabolic process;GO:0006066 alcohol metabolic process;GO:0006081 aldehyde metabolic process;GO:0010430 fatty acid omega-oxidation", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "P08319-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UQC2-1", "uniprot_id": "GAB2_HUMAN", "mass": 74458.0, "length": 676, "protein_name": "GRB2-associated-binding protein 2", "gene_name": "GAB2", "organism": "Human", "refseq_name": "GRB2-associated-binding protein 2 isoform b", "refseq_ac": "NP_036428", "gene_names_uniprotkb": "GAB2; KIAA0571", "gene_names_refseq": "GAB2", "protein_names_uniprotkb": "GRB2-associated-binding protein 2; GRB2-associated binder 2; Growth factor receptor bound protein 2-associated protein 2; pp100", "protein_names_refseq": "GRB2-associated-binding protein 2 isoform b; Grb2-associated binder 2; growth factor receptor bound protein 2-associated protein 2; pp100", "tax_id": 9606, "disease": "chronic myeloid leukemia (Disease Ontology:DOID:8552)", "pathway": " (hsa:9846); (R-HSA-109704); (R-HSA-1257604); (R-HSA-1433557); (R-HSA-1839117); (R-HSA-2219530); (R-HSA-2730905); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-8853659); (R-HSA-8983432); (R-HSA-912526); (R-HSA-9607240); (R-HSA-9645135); (R-HSA-9674555); (R-HSA-9680350); (R-HSA-9702518); (R-HSA-9703465); (R-HSA-9703648)", "pathway_count": 19, "publication_count": 414, "publication_id_list": "10068651;10080542;10102273;10191262;10207047;10323868;10358045;10358752;10377264;10397721;10448070;10455108;10469654;10480903;10482988;10508167;10523831;10523834;10537111;10570274;10643150;10679268;10688839;10698507;10783894;10869344;10884405;10887137;10918587;10935490;10982827;10995764;11000521;11002419;11027663;11090077;11094066;11136978;11147812;11237011;11237712;11290608;11313946;11340297;11360177;11390647;11395417;11470823;11491658;11494148;11520784;11546808;11572860;11689702;11702783;11707405;11739186;11782427;11803464;11809791;11886862;12032311;12062105;12094235;12121613;12124177;12167717;12192036;12242309;12393597;12433361;12468433;12522270;12623850;12660731;12767043;12771945;12796379;12824176;12878163;12882960;12969963;1325671;1334462;1371879;1375232;1381348;1381360;14506247;1465135;14660670;14707138;14766744;14981546;14984498;15003515;15010370;15010462;15034873;15044950;15050920;15143187;15170389;15178581;15256420;15286081;15356145;15448205;1545823;15498859;15526160;15546878;15569713;15609342;15718470;15750601;15800673;15834429;16129412;16212621;16266983;16339315;16410449;16456001;16456541;16483568;16492764;16497976;16627759;16647110;16684964;16720384;16737840;16761019;16847462;16873377;16946300;16990784;1701053;1716764;17200115;1721591;17254966;17255936;17268528;17344430;17356133;17513616;17533378;17626883;17662946;17698633;17764812;17879956;17993265;17998941;18068628;18079394;18192505;18205209;18317450;18391968;18412956;18467591;18483393;18594509;18606717;18644434;18669648;18697750;18754654;18755892;18775330;18787071;18829560;18925875;1898771;19007248;19064725;19172738;19185485;19279408;19345670;19369959;19411071;19413330;19438505;19477218;19523899;19576174;19644473;19651622;19805105;19874848;19920141;19962665;20111072;20226962;20231295;20304997;20338997;20478380;20489731;20522708;20713702;21049007;21072051;21102635;21188471;21262971;21317208;21330321;21368164;21372320;21389326;21478295;2147944;21653832;21668414;21705501;21779497;21779505;21827948;2196173;21976531;21984976;21993244;22120714;22153499;22188813;22411868;22438257;22483114;22569528;22588880;22589270;22750304;22802530;22858987;22898188;23045700;23103841;23168613;23186163;23246379;23303910;23443682;23478294;23481700;23575685;23607741;24220695;24349524;24715725;24737791;24854988;24890514;24897931;24937142;25219551;25576301;25781681;26029847;26085527;26235028;26308771;26515730;26716518;26891877;26895103;26992070;27025927;27256702;27324437;27536065;27600516;27666490;27795560;27846572;27862975;28028030;28122968;28159928;28271164;2833705;28522571;28576946;28751768;28778966;28832583;28851395;29025582;29242379;29309929;29393594;29507660;29557506;29632711;29704617;29880609;29964125;30332834;30370255;30429286;30552988;30559310;30644389;30651634;30755611;31066629;31085175;31135801;31154438;31359998;31756944;31844290;31848261;32157095;32387766;32897882;32938616;32983136;33717175;33968037;35051231;35580925;36421826;37085900;37914735;37938771;6148751;7506952;7509796;7512720;7521688;7523381;7526158;7536744;7543144;7568001;7597091;7637810;7641685;7665556;7680037;7681396;7737969;7744773;7805849;7809086;7935463;7972015;8052307;8084588;8145851;8197119;8294403;8355686;8394845;8479541;8493579;8530383;8611693;8628282;8631863;8636116;8637703;8645157;8647802;8657148;8662982;8663426;8665852;8674117;8695790;8710374;8774734;8939933;8950973;8977235;8981370;8990121;9038210;9045650;9047384;9099679;9108392;9111318;9126349;9192684;9225065;9226159;9256427;9299438;9355737;9407096;9425908;9446650;9491986;9576949;9604935;9716603;9736715;9737679;9764818;9799234;9864153;9872323;9883723;9885561;9895304;9918857;9927426;9949182", "class_list": "", "function": "Adapter protein which acts downstream of several membrane receptors including cytokine, antigen, hormone, cell matrix and growth factor receptors to regulate multiple signaling pathways. Regulates osteoclast differentiation mediating the TNFRSF11A/RANK signaling. In allergic response, it plays a role in mast cells activation and degranulation through PI-3-kinase regulation. Also involved in the regulation of cell proliferation and hematopoiesis., [UniProtKB, PubMed, PubMed]; Association of XIST/miRNA155/Gab2/TAK1 cascade with the pathogenesis of anti-phospholipid syndrome and its effect on cell adhesion molecules and inflammatory mediators. Publication Status: Online-Only, [RefSeq, PubMed]; Gab2 plays a carcinogenic role in ovarian cancer by regulating CrkII. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-9 and miR-181a Target Gab2 to Inhibit the Proliferation and Migration of Hepatocellular Carcinoma HepG2 Cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 50, "reported_mutagensis": 4, "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": "A2RRM2;A6NEW9;A7MD36;O60317", "ec_number_list": "", "go_molecular_function": "GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0043306 positive regulation of mast cell degranulation;GO:0043491 phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 41.5, "record_id": "Q9UQC2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CG48-1", "uniprot_id": "UBC_HUMAN", "mass": 77039.0, "length": 685, "protein_name": "Polyubiquitin-C", "gene_name": "UBC", "organism": "Human", "refseq_name": "polyubiquitin-C", "refseq_ac": "NP_066289", "gene_names_uniprotkb": "UBC", "gene_names_refseq": "HMG20; UBC", "protein_names_uniprotkb": "Polyubiquitin-C", "protein_names_refseq": "polyubiquitin-C", "tax_id": 9606, "disease": "", "pathway": " (hsa:7316); (R-HSA-110312); (R-HSA-110314); (R-HSA-110320); (R-HSA-1169091); (R-HSA-1169408); (R-HSA-1234176); (R-HSA-1236382); (R-HSA-1236974); (R-HSA-1253288); (R-HSA-1295596); (R-HSA-1358803); (R-HSA-162588); (R-HSA-168638); (R-HSA-168927); (R-HSA-168928); (R-HSA-174048); (R-HSA-174084); (R-HSA-174113); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-174490); (R-HSA-175474); (R-HSA-179409); (R-HSA-180534); (R-HSA-180585); (R-HSA-182971); (R-HSA-187577); (R-HSA-195253); (R-HSA-201681); (R-HSA-202424); (R-HSA-205043); (R-HSA-209543); (R-HSA-209560); (R-HSA-211733); (R-HSA-2122947); (R-HSA-2122948); (R-HSA-2173788); (R-HSA-2173791); (R-HSA-2173795); (R-HSA-2173796); (R-HSA-2467813); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2559585); (R-HSA-2565942); (R-HSA-2644606); (R-HSA-2672351); (R-HSA-2691232); (R-HSA-2871837); (R-HSA-2894862); (R-HSA-2979096); (R-HSA-3134975); (R-HSA-3322077); (R-HSA-349425); (R-HSA-3769402); (R-HSA-3785653); (R-HSA-382556); (R-HSA-445989); (R-HSA-450302); (R-HSA-450321); (R-HSA-450408); (R-HSA-4608870); (R-HSA-4641257); (R-HSA-4641258); (R-HSA-4641263); (R-HSA-5205685); (R-HSA-532668); (R-HSA-5357905); (R-HSA-5357956); (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-5654726); (R-HSA-5654727); (R-HSA-5654732); (R-HSA-5654733); (R-HSA-5655862); (R-HSA-5656121); (R-HSA-5656169); (R-HSA-5658442); (R-HSA-5668541); (R-HSA-5675221); (R-HSA-5675482); (R-HSA-5676590); (R-HSA-5678895); (R-HSA-5684264); (R-HSA-5685942); (R-HSA-5687128); (R-HSA-5689603); (R-HSA-5689877); (R-HSA-5689880); (R-HSA-5689896); (R-HSA-5689901); (R-HSA-5693537); (R-HSA-5693565); (R-HSA-5693607); (R-HSA-5696394); (R-HSA-5696395); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6783310); (R-HSA-6804756); (R-HSA-6804757); (R-HSA-6804760); (R-HSA-6807004); (R-HSA-68867); (R-HSA-68949); (R-HSA-69017); (R-HSA-69231); (R-HSA-69481); (R-HSA-69541); (R-HSA-69601); (R-HSA-75815); (R-HSA-8849469); (R-HSA-8852276); (R-HSA-8854050); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8863795); (R-HSA-8866427); (R-HSA-8866652); (R-HSA-8866654); (R-HSA-8875360); (R-HSA-8876493); (R-HSA-8939236); (R-HSA-8939902); (R-HSA-8941858); (R-HSA-8948747); (R-HSA-8948751); (R-HSA-8951664); (R-HSA-901032); (R-HSA-9010553); (R-HSA-9013507); (R-HSA-9013973); (R-HSA-9014325); (R-HSA-9020702); (R-HSA-9033241); (R-HSA-909733); (R-HSA-912631); (R-HSA-917729); (R-HSA-917937); (R-HSA-936440); (R-HSA-936964); (R-HSA-937039); (R-HSA-937041); (R-HSA-937042); (R-HSA-937072); (R-HSA-9604323); (R-HSA-9613829); (R-HSA-9615710); (R-HSA-9636383); (R-HSA-9637628); (R-HSA-9645460); (R-HSA-9646399); (R-HSA-9648002); (R-HSA-9664873); (R-HSA-9680350); (R-HSA-9683683); (R-HSA-9692916); (R-HSA-9694493); (R-HSA-9705462); (R-HSA-9705671); (R-HSA-9706369); (R-HSA-9706377); (R-HSA-9708530); (R-HSA-9725370); (R-HSA-975110); (R-HSA-975144); (R-HSA-975163); (R-HSA-9755511); (R-HSA-9758274); (R-HSA-9762114); (R-HSA-9766229); (R-HSA-9770562); (R-HSA-977225); (R-HSA-9824878); (R-HSA-9828211); (R-HSA-983168); (R-HSA-9833109); (R-HSA-9861718); (R-HSA-9918432); (R-HSA-9918487); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9931295); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9954716); (R-HSA-9956593); (R-HSA-9958810); (R-HSA-9958825)", "pathway_count": 203, "publication_count": 3265, "publication_id_list": "10022869;10022904;10022913;10023660;10066435;10075690;10079256;10085068;10085069;10089880;10092233;10097102;10097139;10187770;10196136;10197981;10198061;10199400;10205060;10206645;10206983;10207050;10215629;10216106;10224040;10228156;10230406;10319874;10321728;10323868;10329646;10339564;10347217;10358095;10375532;10383417;10385526;10385618;10391242;10391953;10395669;10406800;10409699;10411507;10411933;10415025;10421629;10432220;10433824;10435622;10436022;10444327;10470034;10484077;10485843;10490027;10491388;10499802;10500146;10514377;10514424;10514433;10518217;10519551;10521396;10526214;10531062;10535736;10535940;10535941;10536157;10542231;10542297;10548110;10549281;10549282;10550055;10551863;10556217;10559216;10559856;10559861;10559916;10559924;10562279;10564087;10564661;10567358;10570149;10572046;10581160;10583407;10587642;10587654;10593898;10597293;10604467;10608892;10613896;10625686;10642508;10652316;10660610;10665657;10667208;10669729;10673331;10673500;10673501;10679238;10693759;10694380;10698680;10702308;10702393;10702794;10706082;10706887;10710310;10713164;10716940;10720933;10722742;10723127;10724175;10733526;10734143;10747026;10748049;10757792;10757800;10760286;10766245;10766823;10767424;10769163;10772813;10779524;10788335;10797013;10801132;10802669;10811609;10823831;10827953;10830164;10831586;10831588;10837247;10838074;10854325;10856253;10859164;10866324;10871633;10877843;10878807;10879540;10882063;10882101;10884341;10884347;10887153;10887178;10898789;10911365;10915768;10918611;10921920;10929008;10934142;10934472;10944113;10944529;10944533;10953014;10956649;10958687;10959836;10964718;10966113;10973490;10973499;10975528;10980695;10980696;10982817;10982844;10983987;10984056;10984059;10995389;11006133;11006276;11007478;11007770;11013220;11024059;11025670;11027307;11029007;11032757;11035045;11038283;11044625;11046155;11053425;11053437;11057907;11058110;11060040;11062501;11069780;11071885;11073976;11073981;11076969;11080452;11081627;11081636;11082038;11082044;11087742;11090634;11092454;11094434;11095724;11098060;11101887;11110708;11112487;11114305;11114888;11120601;11125146;11139606;11141066;11146634;11157743;11157749;11158290;11158580;11163210;11171333;11173499;11181075;11182090;11196150;11226752;11231140;11231573;11231585;11234019;11237011;11238463;11239454;11239457;11239468;11239472;11244088;11247302;11248027;11259415;11262391;11274402;11278251;11278841;11278856;11279012;11279143;11280786;11285280;1128706;11292861;11292862;11297579;11298456;11301010;11310834;11323407;11323434;11325957;11337497;11340163;11350924;11357136;11358837;11358993;11359766;11371342;11376695;11377645;11389444;11390408;11390642;11401442;11404376;11416152;11424093;11427533;11427719;11447115;11447225;11448771;11454738;11454741;11460167;11461910;11463333;11463336;11467836;11470803;11485998;11486055;11487608;11493532;11493923;11504826;11504915;11504942;11509732;11511361;11511362;11511374;11516654;11517213;11518718;11520989;11527981;11532990;11546806;11546814;11551930;11562349;11562789;11563910;11564866;11566882;11571274;11573085;11577081;11577110;11584266;11585831;11585840;11585916;11585921;11588175;11588219;11590439;11598268;11606584;11687798;11691915;11698404;11719808;11733065;11734858;11739726;11739732;11740489;11740563;11740940;11741535;11742988;11751994;11772397;11780126;11781871;11782450;11784855;11788588;11804587;11812794;11823422;11823423;11842200;11842292;11847229;11850821;11861489;11877457;11877461;118839;11883935;11884229;11884610;11889126;11893489;11894095;11894096;11904382;11904445;11917024;11919637;11923872;11927540;11927591;11931631;11931757;11934988;11943732;11956057;11960000;11960013;11961546;11970895;11983168;11988742;11988758;11997436;12000792;12019269;12024036;12024216;12029096;12050117;12050670;12057195;12064478;12068298;12070128;12070292;12072436;12080057;12086608;12101228;12112524;12114544;12118249;12123571;12133942;12134156;12136087;12138125;12145188;12145297;12150994;12151385;12152085;12167698;12171911;12185581;12186903;12189133;12193592;12194817;12198130;12205098;12207013;12208738;12209127;12213833;12218189;12221107;12223464;12226657;12234920;12234927;12234931;12239347;12242293;12244174;12297295;12351678;12353037;12354787;12364337;12364621;12379217;12379510;12391150;12391162;12393854;12393879;12399544;12403779;12408824;12408825;12411582;12419216;12421820;12424201;12426310;12429842;12433685;12435631;12435635;12444249;12444543;12446569;12446674;12447390;12447393;12451172;12453412;12454989;12456682;12464600;12473183;12473184;12475979;12482991;12485996;12496252;12504025;12504026;12507430;12514169;12519765;12525615;12526791;12527755;12530964;12538644;12538665;12545175;12546821;12551915;12554650;12559034;12578380;12578958;12582176;12583813;12584190;12593795;12593796;12600938;12604685;12607003;12607005;12609980;12609982;12615973;12627230;12646216;12646235;12660172;12660731;12663786;12667451;12676583;12676925;12682069;12686592;12692549;12697768;12700136;12702766;1270801;12709429;12712206;12717447;12717448;12724779;12727204;12732143;12738770;12750159;12750368;12750467;12759351;12759363;12759408;12766484;12773400;12787671;12788921;12791267;12791687;12791985;12791997;12792649;12796777;12800156;12808055;12808096;12815057;12815074;12816948;12819195;12820959;12821933;12832462;12832467;12832489;12842042;12847086;12851404;12853446;12860405;12881521;12882960;12885776;12890688;12893276;12907679;12912907;12913004;12914926;12915405;12917425;12917689;12917691;12920229;12923053;12934099;12944386;12944396;12952891;12952949;12953056;12958161;12958364;12958597;12963847;12974390;13130464;1317852;1334462;1352877;1356264;1359686;13678582;1377674;1379744;1423597;14505571;14506261;14507994;14512302;14514672;14517266;14517278;14517290;14517297;14517306;14528300;14528312;14532106;14532330;14555962;14555995;14560035;14561760;14564014;14567678;14567914;14576433;14576842;14581451;14584882;14585973;14597415;14600025;14603323;14611647;14617351;14622578;14622579;14624836;14625308;14633987;14634667;14636582;14657019;14657033;14657501;14660603;14660651;14661020;14661924;14662753;14672932;14673179;14675537;14676825;14679213;14681206;14684739;14685266;14688281;14690597;14695475;14701756;14702041;14703513;14707141;14716293;14718169;14718519;14724641;14726597;14729966;14734113;14742321;14745543;14749727;14757770;14764894;14769151;14960584;14962911;14966563;14980219;14981260;14985334;15001581;15010458;15014503;15021893;15024054;15029244;15031289;15037765;15044468;15044642;15047845;15053879;15053880;15064394;15064416;15064760;15075231;15075292;15084453;15084608;15100235;15105418;15107403;15107455;15115751;15117950;15118073;15118125;15122200;15123609;15125833;15131269;15132997;15134832;15138260;15140882;15145317;15147738;15149598;15150273;15163793;15169778;15169888;15175422;15189136;15189446;15190204;15198976;15199127;15199159;15201052;15201865;15208624;15208637;15208656;15210742;15215855;15215856;15218037;15220921;15224091;15224092;15226418;15247232;15252009;15254543;15257295;15258597;15260957;15279782;15280044;15282312;15284455;15287722;15292211;15300262;15312780;15318163;15318165;15324302;15327769;15327770;15329413;15334086;15339664;15340381;1535555;1535557;15358861;15361859;15361868;15362974;15367669;15371334;15374880;15389287;15448695;15449939;15451670;15454084;15459103;15465037;15465819;15466860;15469821;15469984;15472518;15473838;15473846;15474027;15475003;15475561;15485925;15492225;15492226;15496141;15496460;15502812;15502813;15504734;15505377;15509564;15525529;15525938;15531878;15533827;15537541;15538386;15539407;15541657;15545321;15546612;15548653;15563468;15564375;15565158;15569487;15571818;15572677;15572695;15572696;15574592;15574878;15577943;15579463;15588951;15590680;15601820;15601839;15611333;15613341;15620648;15637081;15649145;15652348;15652483;15652751;15657443;15659645;15664191;15664193;15671180;15678106;15678131;15683364;15688063;15694336;1570011;15701692;15702989;15703179;15703209;15707391;15713668;15728179;15735151;15735756;15737063;15760269;15761148;15767370;15774718;15778223;15778442;15781449;15781469;15788536;15799966;15802264;15811629;15814722;15820681;15824097;15828871;15829515;15837794;15845454;15851477;15855052;15858711;15863492;15866171;15866172;15870263;15882621;15895073;15895077;15899824;15916532;15916957;15916959;15916963;15917222;15917247;15919655;15930137;15937478;15962011;15962837;15964821;15965470;15983046;15987702;16000296;16009940;16024644;16027725;16030353;16043511;16055502;16056267;16061177;16061793;16093323;16103228;16109882;16112642;16113677;16115867;16115877;16116452;16122702;16125763;16127453;16136078;16139798;16140942;16142244;16143108;1614537;16148040;16150728;16153455;16153868;16153896;16155214;16156666;16159959;16161041;16163388;16168377;16170336;16171779;16171819;16174740;16186825;16187797;16195327;16209941;16211008;16214042;16215232;16219661;16223728;16227611;16246722;16252004;16252010;16256737;16260493;16260783;16274220;16278212;16280981;16282325;16282375;16284625;16286508;16289117;16301747;16303288;16306936;16306937;16307923;16319104;16322561;16326391;16327781;16335952;16337592;16337601;16341139;16344468;16352599;16356853;16356855;16356856;16357261;16357527;16359182;16360315;16360641;16371348;16371461;16371649;16377563;16377569;16394098;16401342;16402859;16407072;16407192;16407834;16410077;16413484;16415881;16421188;16421275;16427009;16428300;16431915;16436515;16443603;16446366;16459297;16459298;16459302;16460808;16473935;16474402;16478641;16479008;16483930;16491090;16510471;16510874;16516836;16530042;16530044;16531995;16543144;16547496;16547521;16547522;16551619;16554443;16556936;16595681;16603398;16611729;16611981;16611994;16612002;16626623;16630834;16647857;16648845;16651405;16651542;16678110;16682944;16684964;16687519;16699525;16705181;16707488;16707496;16715065;16723543;16723738;16728642;16732330;16738327;16738328;16740475;16751101;16751102;16751180;16753179;16764984;16773578;16775314;16777603;16782892;16790436;16798879;16799559;16806191;16813530;16815975;16816140;16819516;16824194;16825495;16826196;16829951;16829952;16831874;16845383;16849430;16849449;16849543;16850186;16854980;16868077;16871283;16872604;16880396;16884355;16884718;16885023;16890155;16892053;1689311;16893902;16901786;16901789;16903783;16906146;16914094;16916645;16931761;16939498;16943200;16943440;16953218;16953224;16954532;1695717;16962933;16964248;16969069;16971168;16971392;16973552;16973613;16978534;16980583;16987978;17000769;17003037;17007944;17018281;17028573;17035307;17035995;17043239;17047224;17072321;17081101;17086210;17092340;17097642;17108083;17108107;17108971;17110436;17114293;17115028;17121812;17126548;17128255;17130289;17132228;17135271;17139257;17141195;17157040;17158449;17158794;17161475;17170761;17177598;17178829;17182618;17183061;17183367;17187060;17202354;17204608;17210635;17210787;17218260;17218261;17218525;17220875;17234765;17234884;17251292;17254966;17254967;17254968;17255097;17255109;17267500;17270291;17283082;17289582;17289916;17290000;17290220;17303577;1730654;17314102;17318175;17327220;17332328;17332741;17344414;17349580;17349958;17351669;17353907;17360967;17363902;17363905;17372273;17376915;17381423;17392790;17395714;17395884;17400545;17401372;17412287;17412408;17412698;17416736;17425515;17428801;17434750;17438144;17442700;17443180;17446348;17448995;17452316;17456551;17460694;17463226;17466625;17466626;17468049;17475912;17483340;17485488;17486091;17494869;17496917;17497243;17507369;17507410;17510063;17510365;17512409;17512459;17517887;17522231;17523162;17525332;17525340;17526488;17540576;17548359;17553757;17562858;1756723;17575048;17580304;17580310;17591690;17591695;17592128;17596301;17597759;17599067;17600090;17609109;17625570;17627624;17636564;17641202;17644308;17646408;17646409;17646646;17652161;17662939;17675297;17681183;17681954;17686471;17696782;17698607;17699613;17699773;17702576;17707232;17707234;17712310;17713526;17720710;17724343;17726030;17728103;17728323;17761676;17762867;17765224;17765681;17785452;17785525;17786208;17804805;17823124;17825402;17846173;17848578;17855752;17873522;17875931;17875933;17878161;17881003;17882165;17890055;17894550;17908796;17928296;17938197;17947239;17948050;17948053;17965729;17969444;17977821;17978091;17979524;17980597;17981138;17981804;17991829;17993263;17997719;18000046;18001824;18001825;18003979;18006705;18031682;18032517;18035202;18039658;18040046;18043734;18057259;18063579;18065497;18070875;18070888;18070982;18077395;18077452;18077588;18079694;18079701;18082604;18093314;18093523;18094723;18097461;18162290;18166656;18167338;18171670;18172164;18174376;18178551;18180283;18182391;18184961;18192505;18194661;18199536;18199683;18200010;18206966;18235225;18237417;18238777;18242152;18248330;18264092;18267069;18273910;18280240;1828071;18281465;18282684;1828392;1828393;1828394;18287095;18288197;18294816;18296446;18305167;18307765;18310267;18316726;18327259;1833184;18332145;18337469;18342608;18347055;18353650;18359941;18365017;1837051;18374639;18374649;18378692;18378770;18387606;18388313;18400985;1840698;18411265;18414028;18417469;18418349;18423204;18426978;18434309;18438411;18443292;18449172;18449189;18452557;18455992;18456656;18462684;18462924;18467330;18467591;18469519;18474358;18477460;1847920;18480045;18484335;18485873;18490454;1849145;18497258;18497827;18502753;18502828;18508966;18515281;18521620;18524852;18534984;18541707;18547165;18555777;18555778;18566290;18568018;18570872;18573886;18573912;18575461;18583345;18591409;18593892;18593949;18594010;18598779;18599482;18614043;18615013;18624796;18628966;18632802;18632848;18635759;18636086;18644861;18644862;18644871;18653540;18662336;18662542;18692471;18698078;18700817;18701132;18701449;18710948;18710949;18711132;18712838;18716059;18716620;18719096;18719106;18720373;18724359;18724360;18724939;18758443;18772140;18775313;18775314;18776931;18790740;18793328;18805091;18805092;18819912;18819921;18819930;18824583;18824585;18826954;18827223;18827403;18832070;18833288;18851830;18923075;18923523;18923524;18923525;18926707;18931676;18971343;18981233;18985070;18997792;18997794;19000840;19000841;19001859;19002207;19011241;19011621;19015242;19017631;19022706;19028597;19047045;19047365;19054389;19056373;19056823;19061640;19066035;19073728;19074197;19075005;19081070;19084021;19091743;19092055;19092802;19109251;19109893;19111657;19112497;19117993;19121998;19122653;19125153;19125156;19135894;19140243;19151708;19153159;19153606;19158341;19166925;19170759;19176521;19188362;19188440;19193720;19193793;19197237;19202061;19203578;19203579;19208625;19208626;19208840;19217269;19217410;19234442;19250909;19250911;19261749;19264966;19270716;19276253;19278658;19279666;19287005;19289468;19296720;19305393;19307298;19321346;19345329;19346256;19351884;19352404;19357644;19359218;19363159;19364920;19368795;19371734;19379695;19380580;19380724;19383985;19387438;19398035;19398555;19398892;19410543;19416807;19419957;19424180;19432818;19447222;19451217;19451218;19452197;19453968;19456272;19458076;19458185;19459784;19462008;1946430;19464428;19473979;19473982;19484123;19487459;19487573;19489725;19492058;19513348;19520913;19524514;19527882;19528227;19531363;19533801;19535145;19536138;19549984;19560417;19561358;19567869;19570978;19573811;19575674;19584060;19589784;19590513;19592253;19593530;19596236;19603039;19603532;19609301;19617556;19619488;19620632;19622347;19632994;19652666;19658395;19661379;19666503;19675569;1968060;1968359;19684112;19690147;19696444;19696796;19696798;19699667;19706539;19713939;19713942;19723507;19726682;19729658;19732400;19733223;19734889;19748355;19754430;19756449;19758997;19759537;19762596;19762597;19776351;19782031;19805069;19808967;19808995;19809571;19814798;19815541;19815555;19816404;19818707;19818708;19828817;19838211;19851334;19852954;19853559;19862647;19874575;19874889;19878745;19881509;19893624;19896182;19897490;19898473;19900460;19903815;19909372;19910467;19914168;19917253;19928349;19933325;19934406;19935683;19940019;19940136;19940261;19941824;19941829;19953639;19955409;19965871;1998343;19995904;19996094;19996169;20004982;20005846;20008555;20014402;20016067;20016603;20018861;20023648;20033049;20033059;20038579;20047764;20059951;20061380;20080666;20096447;20098737;20100835;20102227;20104595;20107323;20117945;20118233;20126261;20129061;20129063;20130243;20133869;20154143;20154705;20156974;20159558;20159559;20164194;20178365;20185725;20193029;20211604;20219915;20219937;20223231;20227366;20227374;20228808;20231386;20233725;20236090;20300203;20304918;20308324;20332238;20347428;20347429;20348946;20351096;20351172;20351173;20357282;20360384;20363976;20368362;20368735;20378532;20385093;20385554;20385878;20388639;20388916;20403326;20409569;20416930;20418879;20427281;20428113;20434986;20436459;20438709;20448150;20449947;20452968;20452972;20454865;20460306;20466723;20487519;20489731;20495340;20495530;20501646;20501935;20512148;20525693;20534573;20536836;20538596;20538597;20538786;20541997;20543837;20550936;20553488;20554524;20577264;20583968;20585641;20595680;20603015;20603016;20603073;20606012;20621639;20622874;20622895;20628368;20643137;20643644;20660785;20663872;20670894;20671156;20676056;20685844;20695905;20712405;20713061;20734105;20797626;20802526;20805357;20807650;20818436;20826345;20843055;20844016;20849292;20855601;20858899;20870725;20876134;20887958;20889716;20937913;20940148;20946875;20952260;20952511;20956384;20959462;20966255;20966921;20972443;21040849;21049007;21052091;21070792;21072051;21074459;21081755;21083385;21091114;21095583;21102408;21115803;21134980;21135142;21143968;2115402;21164297;21170358;21177870;2118650;21187331;21194381;21203937;21213368;2121370;21220506;21235526;21238931;21239494;21240188;21245377;21252624;21257310;21258369;21262971;21263215;21273557;21278753;21282113;21282463;21282471;21289126;21293379;21295486;21316588;21317288;21317932;21325134;21329875;21329877;21329882;21335549;21335604;2135388;21356517;21357747;21362556;21372320;21376233;21383061;21388382;21391649;2139180;21396873;21399617;21408173;21415216;21423214;21445324;21447816;21463634;21464321;21478859;2147937;21482805;21494621;21499258;21525931;21527911;21532586;2154449;21554508;21571218;21571647;21596315;21596819;21613550;21617041;21625555;21628590;21632553;21632562;21652558;21656749;21659512;21659603;21661760;21680713;21693646;21695114;21701511;21703539;21715330;21727895;21730132;21730163;21734303;21734707;21737330;21757351;21764741;21777809;21778237;21779028;21779496;21779505;21791603;21799911;21801010;2183031;21838707;21841790;21847362;21849505;21862579;21862588;21863050;21875946;21878643;21883765;21905185;21905186;21909076;21921029;21927000;21927001;21931591;21931630;21940857;2195544;2196173;21962517;21962518;21966355;21976670;21979375;21980954;21983142;21984732;21986495;21995445;22000013;22000856;22002062;22002721;22002868;22007132;22012064;22014570;22020331;22021381;22021426;22024395;22029577;22036506;2204156;22045334;22046132;22047557;22057399;22065755;22069318;22081108;22085928;22099461;22101459;2210768;2211721;22117219;22118460;22118466;22124327;22128162;22131221;22142471;22144181;22153078;22153499;22162134;22178396;22178883;22179043;22179575;22195972;22216260;22231403;22233676;22234877;22248338;22249260;22253733;22258451;22265677;22267219;22275377;22279049;22286099;22287633;22297296;22304967;22306028;22306998;22312431;22318583;22323579;22325352;22327622;22336108;22344298;22347464;22357968;2236053;22362889;22365832;22371489;22373579;22374676;22383950;22388039;22391301;22396592;22411803;22422618;22427670;22435550;22438257;22440753;22466610;22466611;22466612;22466964;22483114;22484487;22499340;22505454;22505844;22508508;22508986;22510687;22510808;22537386;22570254;22575959;2257624;22589270;22589545;2261476;22634325;22635276;22641346;22653731;22658521;22658935;22658936;22661229;22661230;22681887;22683641;22692201;22700975;22718757;22721435;22721555;22730326;22745133;22747494;22751498;22751928;22761442;22762019;22772988;22773843;22773952;22789539;22792074;22798961;22800433;22802525;22813749;22815132;22815487;22848449;22859295;22859296;22863004;22872865;22885700;22897851;22902626;22902628;22908299;22936343;22941947;22942183;22942912;22946059;22952242;22959436;22964642;22977173;22980979;22982193;2298749;22988300;23000554;23000965;23007395;23038248;23042605;23042607;23045548;23061660;23063411;23069990;23104988;23105109;23112049;23112050;23121362;23139213;23140627;23143872;23144924;23159851;23201271;23201355;23208509;2321095;23217742;23222971;23230144;23232094;23236459;23239810;23246432;23256519;23266279;23274085;23297414;23300935;23301498;23305486;23313255;23319653;23325218;23332756;23333304;23333871;23345434;23352614;23352696;23395819;23401859;23403054;23419514;23443682;23452856;23453757;23453969;23453971;23453972;23468639;23483519;23485397;23486064;23514631;23515720;23516580;23535009;23535662;23535663;23536704;23548639;23563313;23579495;23583660;23593430;23603117;23613522;23615448;23616951;23622515;23661334;23661552;23663739;23676219;23685075;23686288;23698361;23698467;23707526;23719536;23723247;23725801;23731732;23737759;23746841;23746843;23751493;23791946;23813966;23823722;23824326;23825189;23827681;23846687;23847203;23851460;23856247;23861397;23867461;23874216;23878308;23891661;23906714;23912815;23943595;23943869;23955340;23957430;23963456;23973375;23986495;24011591;24019521;24033119;24035498;2405250;24056413;24060861;24072710;24074955;24076191;24076221;24076655;2409350;24098568;24127601;24130457;24145406;24149845;24186068;24200693;24235149;24246475;24260525;24270891;24291232;24298019;24302888;24309468;24323043;24366543;24367090;24384571;24389026;24402227;24417533;24445538;24449906;24475247;24485656;24493797;24496003;24509444;24515438;24518094;24523872;24581490;24582806;24585635;24610782;24613930;24622840;24623813;24636985;24648516;24660806;24662292;24667604;24680432;24685677;24705897;24706756;24714562;24715725;2472219;24725411;24726323;24726325;24726327;24736082;24746795;24751536;24755855;2475911;24768535;24784582;24784881;24789820;24793695;24793696;24807418;24814062;24828152;24833601;24842903;24845016;24854014;24854174;24865970;24874608;24876129;24890514;24893886;24896179;24905007;24925320;24966051;24971579;24979766;25016021;25019382;25030448;25040165;25043025;25081058;25083866;25092655;25107275;25113031;25122754;25125655;25132172;25133187;25135833;25152365;25154395;25170678;25197364;25231993;25242263;25253721;25260729;25263444;25301780;25301781;25303366;25305019;2530630;25314029;25314968;25339975;25341920;25342631;25349211;25355947;25356553;25356737;25359607;2536303;25371710;25393796;25394790;25416783;25421750;25430771;25435140;25440060;25474007;25500724;25523424;25527291;25527497;25531226;25538220;25538232;25538239;25544560;25547115;25550383;25558984;25565632;25578727;25578875;25584290;25597358;25642820;25654763;25659039;2570070;2570460;25713064;25733683;25740432;25752573;25752577;25759176;25764917;25781681;25793262;25813404;25852146;25854684;25904330;25907116;25921060;25921531;25936802;25961502;25996294;26001147;26018760;26029847;26042225;26042670;26062823;26085527;26086376;26091038;26116755;26117325;26118642;26138649;26151477;26166760;26183061;26208004;26208431;26210183;26216881;26216882;26220973;26222030;26235028;26235645;26240016;26280083;26280536;26301689;26308771;26320399;26344099;26344566;26344709;26350214;26359375;26365381;26374642;26378163;26389808;26403691;26417681;26460955;26562072;26583321;26590425;2661017;26611529;26620909;26632597;26668317;26686862;26701913;26706195;26711259;26735137;26771141;26775703;26778333;26807092;26811146;2682646;26829388;26866270;26900751;26906416;26933192;26942676;26997266;27030794;27035970;27068951;27094677;27137657;27153775;27164085;27203180;27222660;27245569;27247382;27249176;27307491;27383988;27396271;27410739;27426725;27458164;27458237;27466718;27538435;27545878;27552911;27565346;27569044;27572267;27573755;27591049;27597759;27666490;27697864;27701768;27791178;27798111;27874193;279930;2799391;28065601;28071645;28086240;28096519;28115426;28132103;28132843;28148787;28154142;28167504;2820408;28228593;28278510;28317937;28380357;28404650;28506461;28521612;28525742;28593173;28611190;28611990;28630138;28659337;28661484;28666118;28685749;28741662;28765278;28778966;28787099;28790369;2890644;28911096;28920952;28920954;2898143;2900981;29024643;29055231;29093164;29117567;29144452;29153394;29186539;29233872;29242379;29274231;29294448;29311131;29356040;29394115;29424242;29450944;29455642;2946959;29526543;29577978;29626215;29632312;29642005;29717933;29765039;29856954;29856955;29873274;29880609;29883609;29883610;2988935;29911972;29930286;29995846;30111836;30118680;30131584;30139799;30146158;30185776;30244831;30257008;30293783;30315122;30334692;30334693;3035556;30361438;30397120;3041007;30420664;30455202;30485383;3053705;30558248;30573663;30610225;30626607;30692217;30700497;30711375;30728908;30759380;30770249;30779550;3080684;30833945;3094007;30988283;31011209;31031142;31034780;31066629;31110362;31131315;31138766;31154438;31216343;31222486;31231549;3129195;31305264;31356149;31358971;31366041;31366726;3142462;31511692;31530632;3153318;31543423;31546975;31679946;31735643;31826938;31848261;31850239;31936902;31998317;32005965;32032529;32066963;32099016;32113509;32161166;32284348;32293500;32296703;32320653;32330457;32350084;32353859;32355176;32387766;32428392;32511913;32574262;32579943;32589897;32640524;32661006;32672401;32726803;32728199;32758689;32816001;32862111;32877642;32890404;32953130;32979938;32981041;33009401;33024073;33060197;33097660;33110251;33117408;33189161;33193462;33349665;33360543;33372174;33372854;33396578;33396605;33402344;33406423;33440148;33444648;33462636;33469115;33479219;33495715;33514628;33567255;33654074;33718825;33723219;33723527;33727702;33791708;33801464;33807682;33849972;33859744;33895773;33909987;33963333;33989516;33990585;34021074;34054808;34084167;34110168;34162724;34166398;3417785;34215617;34239064;34239127;34290717;34315872;34341353;34363755;34375313;34400613;34439781;34452305;34471099;34502139;3457471;34597346;34671164;34696522;3472246;34876703;34999730;35008409;35102342;35177536;35215835;35385574;35585045;35643212;35941131;36172813;36198437;36302773;36385258;36624349;36719382;3675579;36936901;37051252;37217939;37676773;38177122;38287189;38326650;38793607;3941892;39548056;4829444;5348606;5427280;6146630;6162102;6277905;6305978;6548414;688397;7479848;7479976;7499357;7510216;7512451;7523390;7526154;7529176;7531702;7535770;7537377;7537740;7540766;7541030;7542744;7544915;7553863;7553864;7559382;7559393;7559638;7566092;7569928;7575604;7578059;7588063;7588608;7588633;7588753;7597091;7612269;7628694;7639698;7657591;7665160;7667287;7681396;7686617;7700386;7719337;7737969;7757881;7784084;7790377;7795595;7797074;7799959;7809113;7816143;7822302;7824924;7831327;7851534;7859739;7862124;7865904;7877694;7885476;7902568;7954814;7957050;7957109;7983023;7985023;8001118;8001816;8010951;803282;8033412;8041726;8041788;8078588;8078911;8097946;8107144;8107774;8112288;8114739;8114934;8139570;8140422;8159701;8166633;8168482;8197134;8232552;8234276;8246996;8259215;8313469;8319905;8327496;8332913;8336704;8355686;8383669;8384717;8387275;8413215;8413306;8464497;8479525;8490014;8493579;8497257;8521496;8524399;8533096;8533761;8544406;8550590;8552081;8552632;8553074;8563751;8599092;8601309;8601315;8605876;8613547;8617720;8621447;8621719;8622669;8622688;8625414;8626374;8626462;8626543;8626550;8631325;8633037;8638164;8649374;8649859;8658138;8662539;8662591;8662795;8670417;8672527;8687460;8688489;8689684;8692841;8695634;8702708;8702790;8706131;8741839;8751446;8774846;8809036;8824192;8824437;8837778;8837779;8846784;8858165;8870004;8876179;8884985;8887688;8896571;8917096;8921937;8939459;8944023;8954786;8972730;8974401;8981370;8991089;8995358;9006323;9030721;9037075;9038169;9042862;9049422;9054935;9065443;9090381;9090382;9090383;9092476;9096384;9100026;9106657;9108479;9121453;9122164;9130708;9135132;9135156;9136925;9144196;9151685;9162092;9168116;9169477;9190208;9195981;9200440;9207787;9207788;9215638;9219684;9225065;9230313;9233797;9242679;9244301;9247583;9252186;9259313;9302992;9303539;9315665;9315679;9325318;9326587;9334213;9335507;9346238;9346484;9346895;9362451;9371760;9372967;9380723;9384573;9391096;9395096;9427626;9428629;9430229;9430721;9436858;9447971;9448290;9461599;9462510;9482734;9488723;9501980;9504932;9506952;9508775;9520446;9521656;9525617;9525940;9528852;9529249;9535855;9535861;9539740;9544839;9564042;9566918;9571199;9575168;9590251;9590294;9593755;9601642;9604939;9620803;9628874;9635431;9635433;9644242;9651681;9652413;9653144;9659921;9660177;9660940;9662395;9668046;9668159;9674432;9687533;9691087;9694793;9699634;9700209;9705271;9716411;9719863;9721103;9723620;9730987;9736607;9742107;9744806;9744859;9747882;9768359;9771710;9771713;9790970;9810004;9812899;9816258;9819383;9819428;9822558;9824166;9831708;9837948;9844631;9847332;9851253;9856985;9859996;9861020;9862427;9864362;9865693;9874371;9875289;9885206;9887101;9891082;9892021;9914500;9915784;9925639;9931343;9950430;9989503;9990852;9990853", "class_list": "", "function": "Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in proteotoxic stress response and cell cycle; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling. During ubiquitination, the acceptor ubiquitin is positioned in the active site via direct interaction with the E2 ubiquitin-conjugating enzymes such as UBE2R2 (PubMed:38326650). As a monoubiquitin, its C-terminal glycine is recognized as a C-degron by Cul2-RING (CRL2) E3 ubiquitin-protein ligase complexes (PubMed:39548056)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Provide insights into the pivotal role of Sp1/Sp3 binding to the intronic enhancer in the regulation of UbC transcription., [RefSeq, PubMed]; This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways. [provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 23, "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": "P02248;P02249;P02250;P62988;Q29120;Q6LBL4;Q6LDU5;Q8WYN8;Q91887;Q91888;Q9BWD6;Q9BX98;Q9UEF2;Q9UEG1;Q9UEK8;Q9UPK7", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome;GO:0031386 protein tag activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0019941 modification-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 326.8, "record_id": "P0CG48-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14145-1", "uniprot_id": "KEAP1_HUMAN", "mass": 69666.0, "length": 624, "protein_name": "Kelch-like ECH-associated protein 1", "gene_name": "KEAP1", "organism": "Human", "refseq_name": "kelch-like ECH-associated protein 1", "refseq_ac": "NP_036421", "gene_names_uniprotkb": "KEAP1; INRF2; KIAA0132; KLHL19", "gene_names_refseq": "INrf2; KEAP1; KLHL19", "protein_names_uniprotkb": "Kelch-like ECH-associated protein 1; Cytosolic inhibitor of Nrf2; INrf2; Kelch-like protein 19", "protein_names_refseq": "KEAP1 delta C; cytosolic inhibitor of Nrf2; kelch-like ECH-associated protein 1; kelch-like family member 19; kelch-like protein 19", "tax_id": 9606, "disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658); idiopathic interstitial pneumonia (Disease Ontology:DOID:2797); gallbladder cancer (Disease Ontology:DOID:3121); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); ureteral obstruction (Disease Ontology:DOID:5199); end stage renal disease (Disease Ontology:DOID:783); diabetic retinopathy (Disease Ontology:DOID:8947); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:9817); (R-HSA-5689880); (R-HSA-8951664); (R-HSA-9679191); (R-HSA-9755511); (R-HSA-9759194); (R-HSA-983168)", "pathway_count": 7, "publication_count": 365, "publication_id_list": "10087012;10444327;10535940;10597293;10811609;10821856;10878807;10973499;10982817;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11566882;11585840;11733065;11921171;11923872;11961546;12101228;12186903;12198130;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12700136;12759363;12816948;12917689;12917691;14517290;14585973;14661020;14688281;14690597;14734113;14757770;14764894;15053880;15224091;15224092;15282312;15361859;15367669;15379550;15537541;15571818;15572695;15574592;15583386;15601839;15652483;15657435;15688063;15694336;15799966;15916963;15983046;16006525;16115318;16171779;16204884;16214042;16286508;16359182;16401342;16507366;16522641;16547496;16595681;16647857;16687406;16707496;16790436;16849449;16888629;16901786;16943200;16954532;16959974;16962933;16964248;17020408;17046835;17081101;17127771;17132228;17183367;17220875;17290220;17332328;17443180;17497243;17512459;17662961;17785452;17873522;17925401;17979524;17980597;17981138;18093314;18172164;18206966;18238777;18251510;18273910;18387606;18434303;18467330;18632802;18636086;18662542;18691976;18775313;18776931;18805092;18826954;18851830;18926707;19015242;19028597;19135894;19188362;19250909;19273602;19321346;19352404;19363159;19398555;19424180;19424503;19452197;19489725;19489739;19617556;19748355;19838211;19851334;19874575;19874889;19910467;19940261;20096447;20223979;20228808;20368735;20378532;20452972;20495340;20501646;21220506;21239494;21362556;21391649;21447816;21463634;21571647;21596315;21659512;21734707;21778237;21849505;21863050;21940857;21962518;22029577;22085928;22128162;22216260;22306028;22401777;22424782;22466964;22537386;22552008;2261476;22789539;22814904;22872865;22959436;23159851;23201271;23274085;23301498;23333871;23395819;23401859;23453757;23481700;23486064;23535662;23535663;23563313;23583660;23641311;23824326;23825189;23912815;23986495;24011591;24056413;24076655;24089205;24127568;24260525;24272870;24298019;24366543;24493797;24584101;24630991;24636985;24715725;24793695;24793696;24896179;24896564;25040165;25197364;25305019;25314029;25349211;25355947;25418920;25531226;25548167;25576301;25578727;25645385;25793262;25801024;25892735;25921531;26002965;26117325;26154972;26344709;26375851;26460955;26517842;26583321;26632597;26773127;26906416;26929215;26942676;26992070;27030794;27161318;27222660;27565346;27846572;27862975;27893789;27920218;28115426;28159763;28228285;28380357;28425720;28467828;28514659;28663241;28832583;28842501;28904123;28985506;29153394;29233872;29242379;29314611;29371260;29393594;29450944;29493099;29526543;29557506;29590092;29632046;29632711;29769354;29786170;29945920;30201761;30315122;30323285;30429286;30524438;30573663;30576774;30610225;30765703;31048504;31092671;31154438;31217245;31546975;31597407;31844290;31848261;31953436;31998317;32005965;32157095;32161166;32284348;32293500;32350084;32357974;32387766;32488085;32502341;32640524;32672401;32897882;32938616;32983136;33009401;33043019;33141586;33298915;33392160;33444648;33592498;33691108;33791708;33859744;33912179;33936100;33968037;33981976;34087483;34211107;34357683;34433824;34509645;35051231;35154160;35251023;35561310;36010968;36241641;36284347;36882524;37339955;37938771;39003742;39407193;40596516;40914422;7578059;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "In epithelial cells derived from retina and inner ear, Keap1 is a component of focal adhesions and zipper junctions., [RefSeq, PubMed]; Nrf2/Keap1/ARE regulation by plant secondary metabolites: a new horizon in brain tumor management. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that regulates the response to oxidative stress by targeting NFE2L2/NRF2 for ubiquitination (PubMed:14585973, PubMed:15379550, PubMed:15572695, PubMed:15601839, PubMed:15983046, PubMed:37339955). KEAP1 acts as a key sensor of oxidative and electrophilic stress: in normal conditions, the BCR(KEAP1) complex mediates ubiquitination and degradation of NFE2L2/NRF2, a transcription factor regulating expression of many cytoprotective genes (PubMed:15601839, PubMed:16006525). In response to oxidative stress, different electrophile metabolites trigger non-enzymatic covalent modifications of highly reactive cysteine residues in KEAP1, leading to inactivate the ubiquitin ligase activity of the BCR(KEAP1) complex, promoting NFE2L2/NRF2 nuclear accumulation and expression of phase II detoxifying enzymes (PubMed:16006525, PubMed:17127771, PubMed:18251510, PubMed:19489739, PubMed:29590092). In response to selective autophagy, KEAP1 is sequestered in inclusion bodies following its interaction with SQSTM1/p62, leading to inactivation of the BCR(KEAP1) complex and activation of NFE2L2/NRF2 (PubMed:20452972). The BCR(KEAP1) complex also mediates ubiquitination of SQSTM1/p62, increasing SQSTM1/p62 sequestering activity and degradation (PubMed:28380357). The BCR(KEAP1) complex also targets BPTF and PGAM5 for ubiquitination and degradation by the proteasome (PubMed:15379550, PubMed:17046835)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a cytoplasmic regulatory protein that plays a role in the cellular response to oxidative and electrophilic stress. The encoded protein regulates NRF2, a transcription factor that controls the expression of antioxidant and cytoprotective genes. Under non-stress conditions, KEAP1 binds NRF2 and promotes its ubiquitination and proteasomal degradation, thereby maintaining low NRF2 levels. During oxidative or electrophilic stress, conformational changes in KEAP1 impair its ability to promote NRF2 degradation, allowing NRF2 to activate genes that protect cells from oxidative damage and toxic insults. [provided by RefSeq, Mar 2026]., [RefSeq]; Tumor suppressor KEAP1 promotes HSPA9 degradation, controlling mitochondrial biogenesis in 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": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 26, "reported_glycation": 0, "reported_snv": 128, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B3KPD5;Q6LEP0;Q8WTX1;Q9BPY9", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0097718 disordered domain specific binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0140416 transcription regulator inhibitor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005884 actin filament", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0010506 regulation of autophagy;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0034599 cellular response to oxidative stress;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 37.8, "record_id": "Q14145-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P63208-1", "uniprot_id": "SKP1_HUMAN", "mass": 18658.0, "length": 163, "protein_name": "S-phase kinase-associated protein 1", "gene_name": "SKP1", "organism": "Human", "refseq_name": "S-phase kinase-associated protein 1 isoform a", "refseq_ac": "NP_008861", "gene_names_uniprotkb": "SKP1; EMC19; OCP2; SKP1A; TCEB1L", "gene_names_refseq": "EMC19; OCP-II; OCP2; SKP1A; SKP1; TCEB1L; p19A", "protein_names_uniprotkb": "S-phase kinase-associated protein 1; Cyclin-A/CDK2-associated protein p19; OCP-2; OCP-II; Organ of Corti protein 2; Organ of Corti protein II; RNA polymerase II elongation factor-like protein; SIII; Transcription elongation factor B polypeptide 1-like; p19A; p19skp1", "protein_names_refseq": "OCP-2; RNA polymerase II elongation factor-like protein OCP2; S-phase kinase-associated protein 1 isoform a; SIII; cyclin A/CDK2-associated p19; cyclin-A/CDK2-associated protein p19; organ of Corti protein 2; organ of Corti protein II; p19skp1; transcription elongation factor B polypeptide 1-like", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:6500); (R-HSA-1169091); (R-HSA-1170546); (R-HSA-174113); (R-HSA-180534); (R-HSA-187577); (R-HSA-195253); (R-HSA-202424); (R-HSA-2122947); (R-HSA-2565942); (R-HSA-2644606); (R-HSA-2644607); (R-HSA-2871837); (R-HSA-2894862); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5676590); (R-HSA-5684264); (R-HSA-68949); (R-HSA-69231); (R-HSA-69601); (R-HSA-8854050); (R-HSA-8939902); (R-HSA-8951664); (R-HSA-9020702); (R-HSA-917937); (R-HSA-9604323); (R-HSA-9708530); (R-HSA-9725371); (R-HSA-9762114); (R-HSA-983168); (R-HSA-9929356); (R-HSA-9932298)", "pathway_count": 36, "publication_count": 685, "publication_id_list": "10023660;10066435;10075690;10092233;10187770;10196136;10206645;10207050;10215629;10230406;10321728;10323868;10375532;10385618;10421629;10499802;10514424;10514433;10535940;10559916;10572046;10581160;10593898;10597293;10693759;10698680;10702308;10713164;10716940;10779524;10811609;10827953;10831586;10838074;10854325;10878807;10879540;10882063;10882101;10911365;10918611;10964718;10973499;11006133;11032757;11044625;11053425;11057907;11062501;11069780;11073976;11090634;11094434;11099048;11157749;11158290;11169414;11231573;11231585;11237011;11239468;11259415;11262391;11292861;11292862;11298456;11323407;11325957;11350924;11358993;11389839;11416152;11454738;11460167;11461910;11520989;11585840;11585921;11606584;11719808;11733065;11739726;11740940;11751994;11772397;11884229;11884610;11931757;11960013;11961546;12000792;12050117;12070292;12101228;12118249;12186903;12207013;12209127;12234927;12354787;12364337;12391150;12399544;12435635;12444543;12453412;12473183;12473184;12481031;12482991;12496252;12504025;12504026;12526791;12530964;12538644;12538665;12553912;12554650;12609982;12646216;12660731;12667451;12676583;12676925;12682069;12738770;12748172;12759351;12759363;12791267;12791687;12816948;12820959;12832462;12860405;12923053;12958161;12963847;13678582;1423597;14514672;14517297;14576842;14597415;14603323;14625308;14673179;14676825;14681206;14690597;14695475;14734113;14757770;14980219;15001581;15044468;15082796;15105418;15107403;15122200;15125833;15140882;15145317;15169888;15199159;15201052;15224091;15224092;15282312;15327769;15327770;15340381;15361859;15367669;15371334;15469984;15531878;15537541;15541657;15546612;15571818;15572695;15574592;15574878;15579463;15601839;15652483;15688063;15694336;15703179;15735151;15760269;15767667;15778223;15799966;15824097;15829515;15845454;15855052;15917222;15917247;16009132;16056267;16093323;16115867;16143108;16171779;16186825;16195327;16209941;16252004;16256737;16274220;16301747;16303288;16341139;16356853;16356855;16356856;16371461;16377569;16401342;16407072;16421188;16421275;16510471;16530044;16546209;16547496;16551619;16595681;16611981;16612002;16647857;16705181;16707496;16728642;16738328;16753179;16782892;16790436;16806191;16831874;16840534;16849449;16880511;16890155;16943200;16954532;16978534;17003037;17047224;17072321;17074750;17081101;17092340;17110082;17111047;17114293;17115028;17132228;17135271;17141195;17158449;17183061;17183367;17204608;17220875;17254966;17254967;17283082;17318175;17322306;17332328;17363905;17389369;17401372;17416736;17428801;17434132;17468049;17496917;17497243;17507369;17510365;17548359;1756723;17646408;17646409;17675297;17690253;17728323;17785452;17786208;17890055;17908796;17922009;17948050;17997719;18024471;18043734;18070982;18077452;18093314;18094723;18097461;18167338;18180283;18194661;18203720;18206966;18212344;1828071;18281465;1828392;1828393;1828394;18296446;1833184;18374649;18378770;18414028;18438411;18462924;18477460;18480045;18521620;18541707;18566290;18615013;18632848;18662542;18710949;18719096;18772140;18775313;18776931;18805092;18824583;18824585;18826954;18827403;18851830;18926707;19028597;19056373;19061640;19066035;19075005;19122653;19151708;19250909;19264966;19321346;19352404;19359218;19452197;19458076;1946430;19487459;19489725;19524514;19617556;19651622;19726682;19734889;19748355;19762596;19762597;19851334;19874575;19897490;19903815;19909372;19934406;19940261;20015877;20038579;20053995;20068231;20107323;20154143;20181953;20193029;20227366;20300203;20348946;20449947;20493732;20501935;20538596;20550936;20596027;20663872;20685844;20818436;20843055;20952511;20972443;21245377;21252624;2139180;21406692;21423214;21447816;21463634;2147937;21525931;2154449;21715330;21715655;21778237;21863050;21921029;21931630;21940857;21966355;22069318;22101459;22113614;22142471;22265677;22306028;22306998;22365832;22422618;22424782;22466964;22537386;2261476;22641346;22649370;22718757;22751928;22761442;22798961;22955283;22959436;22964642;22988300;23007395;23201271;23256519;23301498;23333871;23401859;23403054;23431138;23452856;23453757;23481700;23535662;23535663;23563313;23579495;23583660;23615448;23622515;23737759;23912815;23943595;23986495;24035498;24060861;24074955;24076655;24366543;24515438;24636985;24714562;24715725;24793695;24793696;24876129;25114211;25260729;25314029;25349211;25355947;25418920;25502872;25503564;25505266;25531226;25576301;25645385;25654763;25704143;25733683;25740432;25810538;25818168;26091038;26344709;26375851;26460955;26632597;26778333;26906416;26992070;27030794;27222660;27466718;27543614;27553022;27565346;27568929;27572267;27862975;27920218;28115426;28218747;28228285;28446606;28510447;28727686;28832583;28834231;28904123;29149593;29153394;29242379;29437277;2946959;29493099;29508533;29557506;29588546;29632711;29717933;29786170;30033217;30315122;30410026;30429286;30610225;30692217;30711375;30728908;30833945;31020640;31092671;31209342;31217245;31222486;3129195;31366041;31390744;31413110;31434245;31530632;31543423;31844290;31848261;31937595;32005965;3212432;32157095;32161166;32284348;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33402344;33444648;33537174;33592498;33633747;33717175;33936100;33968037;33981976;34087483;34171305;34211107;34315872;34357683;34405274;34509645;34561969;35051231;35154160;35251023;35580925;35982156;36010968;36215666;36241641;36284347;36896912;37831778;37938771;38342987;38665916;7479848;7479976;7499357;7553852;7566092;7575604;7588063;7612269;7628694;7797074;7809113;7831327;7862124;7954814;7957109;7983023;8001118;8041788;8114739;8139570;8246996;8327496;8332913;8336704;8387275;8497257;8530064;8550590;8599092;8601309;8649374;8670417;8687460;8695634;8706131;8837778;8921937;8972730;9031623;9042862;9106657;9135156;9144196;9190208;9230313;9244301;9252186;9315665;9315679;9325318;9346238;9346484;9362451;9371760;9380723;9430229;9447971;9448290;9462510;9482734;9508775;9520446;9535861;9544839;9604939;9620803;9651681;9660940;9668046;9687533;9694793;9721103;9742107;9790970;9819428;9859996;9887101;9891082;9914500;9930702;9950430;9990852;9990853", "class_list": "", "function": "A noncanonical function of SKP1 regulates the switch between autophagy and unconventional secretion., [RefSeq, PubMed]; Essential component of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, which mediates the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. In the SCF complex, serves as an adapter that links the F-box protein to CUL1., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component., [UniProtKB, UniProtKB]; This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [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": 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": "D3DQ97;D3DQ98;P34991;Q8TAY2", "ec_number_list": "", "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0008013 beta-catenin binding;GO:0097602 cullin family protein binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:1990444 F-box domain binding", "go_cellular_component": "GO:0031467 Cul7-RING ubiquitin ligase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0010824 regulation of centrosome duplication;GO:2000001 regulation of DNA damage checkpoint;GO:0006338 chromatin remodeling;GO:0051124 synaptic assembly at neuromuscular junction;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 68.8, "record_id": "P63208-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKQ2-1", "uniprot_id": "ADA28_HUMAN", "mass": 87148.0, "length": 775, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 28", "gene_name": "ADAM28", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 28 isoform 4 preproprotein", "refseq_ac": "NP_001291280", "gene_names_uniprotkb": "ADAM28; ADAM23; MDCL", "gene_names_refseq": "ADAM 28; ADAM28; MDC-L; MDCL; eMDC II; eMDCII", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 28; 3.4.24.-; ADAM 28; Epididymal metalloproteinase-like, disintegrin-like, and cysteine-rich protein II; MDC-L; Metalloproteinase-like, disintegrin-like, and cysteine-rich protein L; eMDC II", "protein_names_refseq": "disintegrin and metalloproteinase domain-containing protein 28 isoform 4 preproprotein; disintegrin and metalloproteinase domain-containing protein 28; epididymal metalloproteinase-like, disintegrin-like, and cysteine-rich protein II; epididymial metalloproteinase-like, disintegrin-like, and cysteine-rich protein II; epididymis secretory sperm binding protein; metalloproteinase-like, disintegrin-like, and cysteine-rich protein-L", "tax_id": 9606, "disease": "estrogen-receptor positive breast cancer (Disease Ontology:DOID:0060075); breast cancer (Disease Ontology:DOID:1612); invasive ductal carcinoma (Disease Ontology:DOID:3008); breast carcinoma (Disease Ontology:DOID:3459); liver cancer (Disease Ontology:DOID:3571); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); asbestos-related lung carcinoma (Disease Ontology:DOID:7596); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:10863)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10506182;10587367;11237011;12777399;21618342;24190977;26992070;28834231;29314611;29557506;29632711;30429286;31217245;31844290;32157095;32861707;32983136;33543212;33592498;33675784;34357683;35051231;35580925;36054559;36284347;37074911;37217939", "class_list": "", "function": "ADAM28 from both endothelium and gastric cancer cleaves von Willebrand Factor to eliminate von Willebrand Factor-induced apoptosis of gastric cancer cells., [RefSeq, PubMed]; ADAM28: Another ambivalent protease in cancer. Review article, [RefSeq, PubMed]; ADAM8, ADAM15, and ADAM28, but not ADAM17, catalyzed ectodomain shedding of CD23, the low affinity IgE receptor., [RefSeq, PubMed]; LncRNA NEAT1 induces autophagy through the miR-128-3p/ADAM28 axis to suppress apoptosis of nonsmall-cell lung cancer., [RefSeq, PubMed]; May play a role in the adhesive and proteolytic events that occur during lymphocyte emigration or may function in ectodomain shedding of lymphocyte surface target proteins, such as FASL and CD40L. May be involved in sperm maturation., [UniProtKB]; This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a lymphocyte-expressed ADAM protein. This gene is present in a gene cluster with other members of the ADAM family on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]; [Construction of ADAM28 shRNA interference vector and its inhibitory effect on human periodontal ligament stem cells]., [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": 3, "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": 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": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 9, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RMV5;Q9Y339;Q9Y3S0", "ec_number_list": "", "go_molecular_function": "GO:0034987 immunoglobulin receptor binding;GO:0004222 metalloendopeptidase activity;GO:0008237 metallopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9UKQ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UGJ0-1", "uniprot_id": "AAKG2_HUMAN", "mass": 63066.0, "length": 569, "protein_name": "5'-AMP-activated protein kinase subunit gamma-2", "gene_name": "PRKAG2", "organism": "Human", "refseq_name": "5'-AMP-activated protein kinase subunit gamma-2 isoform c", "refseq_ac": "NP_001035723", "gene_names_uniprotkb": "PRKAG2", "gene_names_refseq": "AAKG2; AAKG; CMH6; GSDH; H91620p; PRKAG2; WPWS", "protein_names_uniprotkb": "5'-AMP-activated protein kinase subunit gamma-2; AMPK gamma2; AMPK subunit gamma-2; H91620p", "protein_names_refseq": "5'-AMP-activated protein kinase subunit gamma-2 isoform c; 5'-AMP-activated protein kinase subunit gamma-2; AMPK subunit gamma-2; epididymis secretory sperm binding protein; protein kinase, AMP-activated, gamma 2 non-catalytic subunit", "tax_id": 9606, "disease": "lethal congenital glycogen storage disease of heart (Disease Ontology:DOID:0090101); hypertrophic cardiomyopathy 6 (Disease Ontology:DOID:0110312); neurodegenerative disease (Disease Ontology:DOID:1289); glycogen storage disease (Disease Ontology:DOID:2747); Wolff-Parkinson-White syndrome (Disease Ontology:DOID:384)", "pathway": " (hsa:51422); (R-HSA-1445148); (R-HSA-1632852); (R-HSA-163680); (R-HSA-200425); (R-HSA-2151209); (R-HSA-380972); (R-HSA-5628897); (R-HSA-6804756); (R-HSA-9613354); (R-HSA-9619483); (R-HSA-9931269)", "pathway_count": 12, "publication_count": 251, "publication_id_list": "10329961;10435622;10500146;10559218;10570149;10601328;10604467;10673500;10673501;10677481;10698692;10710310;10716435;10745013;10884347;10980602;11018120;11029283;11034341;11096062;11112354;11237011;11239457;11340051;11356169;11371514;11407343;11447225;11481440;11486029;11511362;11545734;11546806;11551930;11740489;11748095;11780126;11790793;11825910;11827995;11959846;12064478;12161445;12203114;12393879;12438239;12453409;12702766;12714747;12802337;12805220;12851404;12869586;12878598;12906785;12914926;13298683;13538944;14511394;14517221;14517248;14614828;14651849;14702041;14711372;14722619;14985505;15053879;15060529;15105503;15187094;15223;15579580;15589136;15591024;15866171;15877279;15919790;15971998;16140933;16322561;16413492;16636147;16728594;16760263;16839880;16880201;16943194;16963840;17099248;17108107;17223360;17255938;17298220;17307971;17349958;17369524;17486094;17525332;17540029;17591690;17618624;17712357;17995453;18198340;18321988;18344994;18439900;18490454;18556348;18691976;18692468;19013499;19112161;19113821;19121998;19211835;19252894;19322194;19413330;19439913;19487573;19590496;19822145;19855179;19898463;19965871;20059746;20068231;20080666;20182617;20233797;20351271;20378837;20457939;20538056;20631154;20701589;20713597;20837646;20921139;20937701;20959462;21177865;21205641;21258367;21317932;21383122;21451146;21454505;21454690;21460621;21460634;21750704;21819378;21907143;21958598;22123817;22170151;22363791;22682742;22871568;23000554;23202584;23485397;23676219;23685627;23727157;23775793;23884233;24066844;24145406;24275569;24277613;24366874;24383451;24563466;24718924;24747438;24874608;24954904;25484072;2550440;25568151;25576301;25579166;25880248;25961502;26578976;26652033;26811146;26828774;26902588;26992070;27846572;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29786170;30118680;30315122;30379171;31154438;31540894;31844290;31848261;32157095;32161166;32387766;32502341;32938616;32983136;33392160;33592498;33968037;34185709;34509645;35580925;36010968;36241641;37013823;37932845;38000657;38253038;38424693;39082507;5666113;7628435;7711730;7979252;7989588;8094051;8119488;8549768;8664345;8779952;9048718;9099716;9344464;9374491;9399886;9685390;9691089;9706223;9925639;9926927", "class_list": "", "function": "AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]., [RefSeq]; AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism (PubMed:14722619, PubMed:24563466). In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation (PubMed:14722619, PubMed:24563466). AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators (PubMed:14722619, PubMed:24563466). Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin (PubMed:14722619, PubMed:24563466). Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits (PubMed:14722619, PubMed:24563466). ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit (PubMed:14722619, PubMed:24563466). ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive (PubMed:14722619, PubMed:24563466)., [UniProtKB, PubMed, PubMed]; Abnormal expression of PRKAG2-AS results in dysfunction of cardiomyocytes through regulating PRKAG2 transcription by interacting with PPARG. Publication Status: Online-Only, [RefSeq, PubMed]; Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies., [RefSeq, PubMed]; Overexpression of AMPKgamma2 increases AMPK signaling to augment human T cell metabolism and function., [RefSeq, PubMed]; PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a Brazilian long-term follow-up with extracardiac disorders. 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": 17, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q53Y07;Q6NUI0;Q75MP4;Q9NUZ9;Q9UDN8;Q9ULX8", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0004679 AMP-activated protein kinase activity;GO:0004862 cAMP-dependent protein kinase inhibitor activity;GO:0008603 cAMP-dependent protein kinase regulator activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0006110 regulation of glycolytic process;GO:0035556 intracellular signal transduction;GO:0005977 glycogen metabolic process;GO:0006633 fatty acid biosynthetic process;GO:0006754 ATP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 25.8, "record_id": "Q9UGJ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54257-1", "uniprot_id": "HAP1_HUMAN", "mass": 75506.0, "length": 671, "protein_name": "Huntingtin-associated protein 1", "gene_name": "HAP1", "organism": "Human", "refseq_name": "huntingtin-associated protein 1 isoform 3", "refseq_ac": "NP_001073339", "gene_names_uniprotkb": "HAP1; HAP2; HLP1", "gene_names_refseq": "HAP1; HAP2; HIP5; HLP; hHLP1", "protein_names_uniprotkb": "Huntingtin-associated protein 1; HAP-1; Neuroan 1", "protein_names_refseq": "HAP-1; epididymis secretory sperm binding protein; huntingtin-associated protein 1 isoform 3; huntingtin-associated protein 2; neuroan 1", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 68 (Disease Ontology:DOID:0112204); Huntington's disease (Disease Ontology:DOID:12858); neurodegenerative disease (Disease Ontology:DOID:1289); melancholic depression (Disease Ontology:DOID:1595)", "pathway": " (hsa:9001)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10974549;11237011;18192679;18922795;19996106;21386698;22731248;23532844;25074808;31844290;32938616;33184093;34014261;36251080;36509909;37938771;7477378;9668110;9742138", "class_list": "", "function": "Differential expression and roles of Huntingtin and Huntingtin-associated protein 1 in the mouse and primate brains. Publication Status: Online-Only, [RefSeq, PubMed]; Efficient and crucial quality control of HAP1 cell ploidy status. Publication Status: Online-Only, [RefSeq, PubMed]; Huntingtin-associated protein 1 is a potential tumor suppressor for gastric cancer., [RefSeq, PubMed]; Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Originally identified as neuronal protein that specifically associates with HTT/huntingtin and the binding is enhanced by an expanded polyglutamine repeat within HTT possibly affecting HAP1 interaction properties. Both HTT and HAP1 are involved in intracellular trafficking and HAP1 is proposed to link HTT to motor proteins and/or transport cargos. Seems to play a role in vesicular transport within neurons and axons such as from early endosomes to late endocytic compartments and to promote neurite outgrowth. The vesicular transport function via association with microtubule-dependent transporters can be attenuated by association with mutant HTT. Involved in the axonal transport of BDNF and its activity-dependent secretion; the function seems to involve HTT, DCTN1 and a complex with SORT1. Involved in APP trafficking and seems to facilitate APP anterograde transport and membrane insertion thereby possibly reducing processing into amyloid beta. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptors to synapses; the function is dependent on kinesin motor protein KIF5 and is disrupted by HTT with expanded polyglutamine repeat. Involved in regulation of autophagosome motility by promoting efficient retrograde axonal transport. Seems to be involved in regulation of membrane receptor recycling and degradation, and respective signal transduction, including GABA(A) receptors, tyrosine kinase receptors, EGFR, IP3 receptor and androgen receptor. Among others suggested to be involved in control of feeding behavior (involving hypothalamic GABA(A) receptors), cerebellar and brainstem development (involving AHI1 and NTRK1/TrkA), postnatal neurogenesis (involving hypothalamic NTRK2/TrkB), and ITPR1/InsP3R1-mediated Ca(2+) release (involving HTT and possibly the effect of mutant HTT). Via association with DCTN1/dynactin p150-glued and HTT/huntingtin involved in cytoplasmic retention of REST in neurons. May be involved in ciliogenesis. Involved in regulation of exocytosis. Seems to be involved in formation of cytoplasmic inclusion bodies (STBs). In case of anomalous expression of TBP, can sequester a subset of TBP into STBs; sequestration is enhanced by an expanded polyglutamine repeat within TBP. HAP1-containing STBs have been proposed to play a protective role against neurodegeneration in Huntigton disease (HD) and spinocerebellar ataxia 17 (SCA17)., [UniProtKB, PubMed]; Sequential dynein effectors regulate axonal autophagosome motility in a maturation-dependent pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8MQB5;O75358;Q59GK4;Q9H4G3;Q9HA98;Q9NY90", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0044325 transmembrane transporter binding;GO:0017022 myosin binding;GO:0048403 brain-derived neurotrophic factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005813 centrosome", "go_biological_process": "GO:0008090 retrograde axonal transport;GO:0015031 protein transport;GO:0006605 protein targeting;GO:0007268 chemical synaptic transmission;GO:0032230 positive regulation of synaptic transmission, GABAergic", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "P54257-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19012-1", "uniprot_id": "K1C15_HUMAN", "mass": 49212.0, "length": 456, "protein_name": "Keratin, type I cytoskeletal 15", "gene_name": "KRT15", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KRT15; KRTB", "gene_names_refseq": "", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 15; CK-15; Cytokeratin-15; K15; Keratin-15", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:3866); (R-HSA-6805567); (R-HSA-6809371); (R-HSA-9725554)", "pathway_count": 4, "publication_count": 86, "publication_id_list": "10066784;10084315;10196183;10231017;10411887;10588656;10623642;10771479;11237011;11350120;11380615;11590230;12067728;12624109;12902340;15033990;15140226;15234001;15337775;15373777;15556625;15675955;15780751;15797384;15803139;16061697;16297201;16382671;16639001;1691188;1694855;1714783;17330888;17515931;17521629;17562024;17596512;18843291;19190773;19194479;19924134;20179351;20657595;20667819;20940292;21439340;21654840;21997417;22735594;23283814;23481192;23629652;23783831;2414304;2452170;2468493;24794495;24940650;25208914;25926655;26154972;26340985;26375851;26390218;27812135;29314611;29508533;29557506;29632711;29786170;30905808;31399284;31844290;32938616;33968037;33981976;34087483;35051231;35580925;41018975;7543090;8824274;8999895;9395522;9468612;9565599", "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": 7, "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": "B3KQY1;B3KRA2;E0CX14;Q53XV8;Q9BUG4", "ec_number_list": "", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0097110 scaffold protein binding;GO:0030280 structural constituent of skin epidermis;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0005882 intermediate filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0008544 epidermis development;GO:0045109 intermediate filament organization;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P19012-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZV5-1", "uniprot_id": "WWTR1_HUMAN", "mass": 44101.0, "length": 400, "protein_name": "WW domain-containing transcription regulator protein 1", "gene_name": "WWTR1", "organism": "Human", "refseq_name": "WW domain-containing transcription regulator protein 1", "refseq_ac": "NP_001161750", "gene_names_uniprotkb": "WWTR1; TAZ", "gene_names_refseq": "TAZ; WWTR1", "protein_names_uniprotkb": "WW domain-containing transcription regulator protein 1; Transcriptional coactivator with PDZ-binding motif", "protein_names_refseq": "WW domain-containing transcription regulator protein 1; transcriptional co-activator with PDZ-binding motif", "tax_id": 9606, "disease": "intestinal cancer (Disease Ontology:DOID:10155); heart disease (Disease Ontology:DOID:114); nephronophthisis (Disease Ontology:DOID:12712); neurodegenerative disease (Disease Ontology:DOID:1289); cancer (Disease Ontology:DOID:162); ovarian cancer (Disease Ontology:DOID:2394); carcinoma (Disease Ontology:DOID:305); nephrolithiasis (Disease Ontology:DOID:585)", "pathway": " (hsa:25937); (R-HSA-2028269); (R-HSA-2032785); (R-HSA-2173795); (R-HSA-2173796); (R-HSA-5578768); (R-HSA-8940973); (R-HSA-8951671); (R-HSA-9619665); (R-HSA-9909649)", "pathway_count": 10, "publication_count": 250, "publication_id_list": "10022869;10197981;10199400;10203854;10220111;10228168;10400691;10485843;10531062;10535941;10549282;10587520;10587642;10587654;10727776;10757804;10856243;10880574;11007770;11013220;11106645;11115854;11118213;11133365;11157804;11237011;11274402;11278283;11356866;11389444;11394999;11424093;11427533;11430795;11430802;11545733;11734543;11782409;12056842;12145339;12150994;12198163;12231506;12391164;12446674;12529404;12782656;12799134;12917425;14512514;14522948;14559895;14657019;14664827;14765127;15100235;15109305;15146390;15150273;15150276;15189448;15356632;15610069;15688006;15695336;15820681;15836632;15907797;16025100;16099986;16136673;16156666;16278212;16311519;16319104;16319321;16332960;16373334;1672777;16751101;16751102;16751105;16923174;16930133;1704008;17081983;17085597;17325040;17438144;17510063;17591695;17592128;17660514;17699610;17927494;17959798;17974916;18158288;18227151;18328708;18477452;18568018;18579750;18634568;18669648;18803322;19010321;19088198;19135894;19143832;19156870;19321787;19324876;19324877;19389811;19651622;19745155;1975954;19801668;19914168;19917253;19922439;19934029;20068231;20110263;20149798;20213556;20412773;20595680;20625412;20686481;20832498;20850437;20868367;20877012;21044070;21095583;21145499;21173110;21187284;21205866;21224387;21233212;21326363;21411665;21423190;21423191;2144260;21555462;21613327;21653862;21808241;21832154;22045334;22053691;22180461;22275377;22333914;22492709;22658639;22764250;22814607;23186163;23695165;23747866;23873930;23874858;23911299;24191038;24227709;24646194;24675079;24715453;25202235;25576301;25849865;25865393;25974668;26364597;26423937;26441514;26817948;26967290;26990595;27153775;27220739;27288457;27600516;27797343;27859941;27862975;27869121;28218747;28852375;28904123;29242379;29437277;29557506;29577978;29695716;29748249;29786170;30385408;30429286;30833945;31154438;31222486;31844290;31848261;31936902;32157095;32161166;32183950;32488085;32506827;32860047;33912179;33968037;33981976;34171305;35051231;35318648;35580925;36284347;37938771;38610069;38665916;38741073;38981023;38987584;7891679;7925941;7935840;8138712;8349731;8619637;8627307;8647822;8662541;8702870;8842374;9182762;9418958;9482253;9545236;9584153;9651244;9705348;9748295;9858769", "class_list": "", "function": "CircHIPK2 Contributes Cell Growth in Intestinal Epithelial of Colitis and Colorectal Cancer through Promoting TAZ Translation., [RefSeq, PubMed]; Coactivates Runx2-dependent gene transcription while repressing PPARgamma-dependent gene transcription; results indicate that TAZ functions as a molecular rheostat that modulates mesenchymal stem cell differentiation, [RefSeq, PubMed]; Decreased osteogenic potential of mesenchymal stem cells of myeloma patients was in part due to TNF-alpha suppressed TAZ expression., [RefSeq, PubMed]; Non-canonical IKB kinases regulate YAP/TAZ and pathological vascular remodeling behaviors in pulmonary artery smooth muscle cells., [RefSeq, PubMed]; The Hippo pathway terminal effector TAZ/WWTR1 mediates oxaliplatin sensitivity in p53 proficient colon cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; The Hippo pathway transcription factors YAP and TAZ play HPV-type dependent roles in cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional coactivator which acts as a downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:11118213, PubMed:18227151, PubMed:23911299). The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ (PubMed:18227151). WWTR1 enhances PAX8 and NKX2-1/TTF1-dependent gene activation (PubMed:19010321). In conjunction with YAP1, involved in the regulation of TGFB1-dependent SMAD2 and SMAD3 nuclear accumulation (PubMed:18568018). Plays a key role in coupling SMADs to the transcriptional machinery such as the mediator complex (PubMed:18568018). Regulates embryonic stem-cell self-renewal, promotes cell proliferation and epithelial-mesenchymal transition (PubMed:18227151, PubMed:18568018)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DNH7;Q8N3P2;Q9Y3W6", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0042803 protein homodimerization activity;GO:0003714 transcription corepressor activity;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0001894 tissue homeostasis", "synthesized_glycan_count": 0, "hit_score": 25.3, "record_id": "Q9GZV5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60488-1", "uniprot_id": "ACSL4_HUMAN", "mass": 79188.0, "length": 711, "protein_name": "Long-chain-fatty-acid--CoA ligase 4", "gene_name": "ACSL4", "organism": "Human", "refseq_name": "long-chain-fatty-acid--CoA ligase 4 isoform 2", "refseq_ac": "NP_001305438", "gene_names_uniprotkb": "ACSL4; ACS4; FACL4; LACS4", "gene_names_refseq": "ACS4; ACSL4; FACL4; LACS4; MRX63; MRX68; XLID63", "protein_names_uniprotkb": "Long-chain-fatty-acid--CoA ligase 4; 6.2.1.15; 6.2.1.3; Arachidonate--CoA ligase; LACS 4; Long-chain acyl-CoA synthetase 4", "protein_names_refseq": "acyl-CoA synthetase 4; arachidonate--CoA ligase; fatty-acid-Coenzyme A ligase, long-chain 4; lignoceroyl-CoA synthase; long-chain acyl-CoA synthetase 4; long-chain fatty-acid-Coenzyme A ligase 4; long-chain-fatty-acid--CoA ligase 4 isoform 2; long-chain-fatty-acid--CoA ligase 4", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability (Disease Ontology:DOID:0050776); AMME complex (Disease Ontology:DOID:0111860); non-syndromic X-linked intellectual disability 63 (Disease Ontology:DOID:0112050); intellectual disability (Disease Ontology:DOID:1059); Sjogren-Larsson syndrome (Disease Ontology:DOID:14501)", "pathway": " (hsa:2182); (R-HSA-434313); (R-HSA-75876)", "pathway_count": 3, "publication_count": 129, "publication_id_list": "10548543;10954726;11237011;11889465;12371743;12482854;12525535;12750860;12975357;15469937;15677505;16036915;16371355;16959974;17379924;17681178;17697703;17762044;18003621;18554506;18669648;18728184;19505953;19826053;20068231;20937905;21136679;21242590;21872626;21959040;22633490;23186163;23646949;24269233;24366607;24397554;24714562;24715725;25502872;25505266;25576301;25810538;25880248;26154972;26811146;26992070;27397612;27842070;27846572;27862975;28193492;28904123;29437277;29493099;29557506;29961568;30315122;30410026;30429286;30484775;30779550;30833945;31020640;31061331;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357142;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33392160;33465208;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34357683;34433824;34509645;34561969;34932366;35027735;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38665916;38720107;38987531;38989827;39004378;39489850;40596516;41133730;8075637;9480748;9598324", "class_list": "", "function": "ACSL4 upregulates IFI44 and IFI44L expression and promotes the proliferation and invasiveness of head and neck squamous cell carcinoma cells., [RefSeq, PubMed]; Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:21242590, PubMed:22633490, PubMed:24269233, PubMed:31061331, PubMed:38720107). Preferentially activates arachidonate and eicosapentaenoate as substrates (PubMed:21242590). Preferentially activates 8,9-EET > 14,15-EET > 5,6-EET > 11,12-EET (PubMed:21242590). Modulates glucose-stimulated insulin secretion by regulating the levels of unesterified EETs (By similarity). Modulates prostaglandin E2 secretion (PubMed:21242590). Acts as an activator of ferroptosis by activating polyunsaturated fatty acids, especially arachidonate and adrenate, to their active form, generating the primary lipid-peroxidation substrates that contribute to ferroptosis (PubMed:27842070, PubMed:35027735, PubMed:38720107)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation, [RefSeq, PubMed]; GABPA inhibits tumorigenesis in clear cell renal cell carcinoma by regulating ferroptosis through ACSL4. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing CK19 regulates ferroptosis by affecting the expression of GPX4 and ACSL4 in oral squamous cell carcinoma in vivo and in vitro. Publication Status: Online-Only, [RefSeq, PubMed]; The m[6]A eraser FTO suppresses ferroptosis via mediating ACSL4 in LPS-induced macrophage inflammation., [RefSeq, PubMed]; The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the cognitive disability or Alport syndrome. Alternative splicing of this gene generates multiple transcript variants. [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": 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": 2, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DUY2;O60848;O60849;Q5JWV8", "ec_number_list": "6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;6.2.1.2;6.2.1.25", "go_molecular_function": "GO:0005524 ATP binding;GO:0004467 long-chain fatty acid-CoA ligase activity;GO:0031957 very long-chain fatty acid-CoA ligase activity;GO:0047676 arachidonate-CoA ligase activity;GO:0090433 palmitoyl-CoA ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet", "go_biological_process": "GO:0001676 long-chain fatty acid metabolic process;GO:0006629 lipid metabolic process;GO:0006631 fatty acid metabolic process;GO:0008610 lipid biosynthetic process;GO:0030307 positive regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "O60488-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q00987-1", "uniprot_id": "MDM2_HUMAN", "mass": 55233.0, "length": 491, "protein_name": "E3 ubiquitin-protein ligase Mdm2", "gene_name": "MDM2", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase Mdm2 isoform h", "refseq_ac": "NP_001138811", "gene_names_uniprotkb": "MDM2", "gene_names_refseq": "ACTFS; HDMX; LSKB; MDM2; hdm2", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase Mdm2; 2.3.2.27; Double minute 2 protein; Hdm2; Oncoprotein Mdm2; RING-type E3 ubiquitin transferase Mdm2; p53-binding protein Mdm2", "protein_names_refseq": "E3 ubiquitin-protein ligase Mdm2 isoform h; MDM2 oncogene, E3 ubiquitin protein ligase; MDM2 proto-oncogene, E3 ubiquitin protein ligase; Mdm2, p53 E3 ubiquitin protein ligase homolog; Mdm2, transformed 3T3 cell double minute 2, p53 binding protein; double minute 2, human homolog of; oncoprotein Mdm2; p53-binding protein", "tax_id": 9606, "disease": "biliary tract benign neoplasm (Disease Ontology:DOID:0050625); myelodysplastic syndrome (Disease Ontology:DOID:0050908); urinary bladder cancer (Disease Ontology:DOID:11054); sarcoma (Disease Ontology:DOID:1115); breast cancer (Disease Ontology:DOID:1612); ichthyosis (Disease Ontology:DOID:1697); post-traumatic stress disorder (Disease Ontology:DOID:2055); transient cerebral ischemia (Disease Ontology:DOID:224); glioblastoma (Disease Ontology:DOID:3068); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); intermittent claudication (Disease Ontology:DOID:3669); liver disease (Disease Ontology:DOID:409); cholangiocarcinoma (Disease Ontology:DOID:4947); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic myeloid leukemia (Disease Ontology:DOID:8552); acute myeloid leukemia (Disease Ontology:DOID:9119); priapism (Disease Ontology:DOID:9286); obsolete accelerated tumor formation, susceptibility to (MONDO:MONDO:0013733); lessel-kubisch syndrome (MONDO:MONDO:0032868)", "pathway": " (hsa:4193); (R-HSA-198323); (R-HSA-2559580); (R-HSA-2559585); (R-HSA-3232118); (R-HSA-3232142); (R-HSA-399719); (R-HSA-5674400); (R-HSA-5689880); (R-HSA-6804756); (R-HSA-6804757); (R-HSA-6804760); (R-HSA-69541); (R-HSA-8941858); (R-HSA-9725370); (R-HSA-9766229); (R-HSA-9768919)", "pathway_count": 17, "publication_count": 564, "publication_id_list": "10102273;10216106;10347217;10358075;10358095;10435622;10444327;10485710;10490848;10500146;10518217;10556217;10561590;10570149;10597303;10604467;10608892;10611322;10673500;10673501;10702393;10706082;10706887;10707090;10710310;10722742;10723139;10751633;10772813;10871633;10884347;10934142;10980695;10980696;10982817;11087894;11110708;11231573;11234019;11237011;11239457;11274386;11280786;11310834;11331603;11351297;11359766;11447225;11504915;11511361;11511362;11546806;11551930;11564866;11566882;11715018;11740489;11751994;11780126;11782450;11850821;11850850;11883935;11923280;11923872;11943732;11983168;11988758;12064478;12072434;12110584;12112524;12134156;12150820;12150915;12167711;12172553;12185581;12189133;12193592;12244303;12356736;12383858;12393879;12393906;12419227;12421820;12424201;12435631;12524439;12668767;12702766;12730202;12750159;12767043;12800156;12808055;12821780;12851404;12883554;12914926;12917689;12917691;12920229;12934099;13130464;14507994;14517306;14532106;14617782;14654783;14661020;14701734;14702041;14729966;14962911;15001356;15026814;15053879;15053880;15138260;15169778;15183529;15195100;15208656;15247228;15287722;15313915;15315825;1535557;15364927;15374880;15448695;15494207;15507434;15525938;15527798;15550242;15563468;15572696;15588951;15625077;15632057;15688025;15703839;15788536;15866171;15866172;15878855;15895073;15916963;16103882;16140942;1614537;16153455;16161041;16163388;16170336;16173922;16186825;16211008;16214042;16219768;16272144;16322561;16337592;16337594;16402859;16415881;16436515;16474402;16479015;16702947;16781829;16825495;16826196;16845383;16871283;16901786;16939498;16943424;16964248;16983334;17003841;17060450;17086210;17107963;17108107;17108971;17110379;17121812;17170761;17210787;17254968;17255097;17283066;17290220;17332741;17341630;17344414;17349958;17353907;17395714;17416736;17443180;17460193;17470788;17483340;17565390;17591690;17611497;17625570;17707234;17765224;17825402;17873522;17875933;17936559;17980597;17981138;18097461;18172164;18256540;18311135;18332867;18359851;18365017;18374648;18382127;18452557;18467330;18467333;18490454;18566590;18593892;18594010;18617891;18632802;18636086;18701132;18724359;18793328;18833288;18923523;18923524;18923525;18954143;19008219;19011621;19015242;19098711;19121998;19135894;19139490;19166854;19188362;19219073;19247369;19306413;19363159;19369353;19398555;19424180;19451217;19451218;19456272;19459784;19462008;19528227;19644473;19690332;19744555;19751709;19756449;19808967;19816404;19833129;19837670;19838211;19874889;19910467;19965871;20016603;20096447;20100835;20118233;20173098;20209145;20228808;20300531;20368735;20385133;20438709;20440266;20454865;20489726;20501646;20534573;20547755;20708156;20713061;20840854;20858735;20870725;20959462;20972456;20977903;21081495;21098080;21134980;21164297;21213368;21239494;21317932;21333377;21362556;21368041;21375726;21415216;21494621;21571647;21596315;21596819;21625555;21656749;21659512;21730132;21730163;21838707;21847362;21849505;21900752;21909130;21962518;21965678;21986495;22020331;22022385;22022399;22025163;22029577;22085928;22128162;22128911;22216260;22249260;22264786;22325352;22327622;22336108;22347464;22362889;22525275;22570254;22658521;22683641;22705356;22869143;22914926;22955948;22976441;23000554;23104988;23139213;23150762;23159851;23186163;23201355;23203124;23239810;23333304;23395819;23405218;23417673;23485397;23486064;23603988;23661334;23676219;23824326;23825189;23843462;23957430;24002598;24056413;24060861;24120868;24145406;24260525;24291638;24390485;24445538;24465693;24475247;24493797;24496003;24518094;24567357;24613930;24736082;24762959;24782567;24835590;24874608;24896179;25114211;25197364;25218447;25253721;25305019;25342631;25384516;25392082;25393796;25421750;25431954;25482947;25548167;25578727;25813404;25880248;25921060;26001147;26062823;26073453;26124108;26183061;26196320;26203195;26280083;26301689;26462020;26531827;26636645;26754547;26984736;26993775;27050388;27215386;27245569;27462439;27472814;27573755;27591897;27617579;27659528;27846572;27874193;27935866;27986870;28005077;28404650;28468838;28514659;28659337;28741662;28832583;28846075;28904123;28928040;28993697;29242379;29356040;29455642;29493099;29557506;29671580;29681526;29873274;30131584;30177839;30315122;30429286;30622244;30692217;30745421;30879903;31217245;31366041;31534052;31844290;32157095;32350255;32357974;32453417;32488085;32502341;32681102;32897882;32938616;32945383;32983136;33400740;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34561969;34932366;34992144;35051231;35318648;35561310;35580925;36149602;36241641;36284347;36581221;36897777;37217939;37291423;37938771;7535770;7578059;7588608;7588633;7651818;7686617;7689721;7784084;7816143;7824924;7859739;7957050;8001816;8078588;8259215;8319905;8479525;8552081;8622669;8622688;8626550;8633037;8705862;8741839;8774846;8846784;8875929;8887688;8954786;8974401;9030721;9162092;9195981;9270029;9346240;9381178;9450543;9478990;9529249;9564042;9628874;9768359;9812896;9819383;9824166;9829964;9895304;9925639", "class_list": "", "function": "Analysis of mechanism of formation of the principal MDM2 isoforms, differential effects of p53 on the production of these isoforms, and differential abilities of human MDM2 isoforms as regulators of the MDM2/TSG101 and p53/MDM2 feedback control loops, [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome (PubMed:29681526). Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Also acts as a ubiquitin ligase E3 toward itself and ARRB1. Permits the nuclear export of p53/TP53. Promotes proteasome-dependent ubiquitin-independent degradation of retinoblastoma RB1 protein. Inhibits DAXX-mediated apoptosis by inducing its ubiquitination and degradation. Component of the TRIM28/KAP1-MDM2-p53/TP53 complex involved in stabilizing p53/TP53. Also a component of the TRIM28/KAP1-ERBB4-MDM2 complex which links growth factor and DNA damage response pathways. Mediates ubiquitination and subsequent proteasome degradation of DYRK2 in nucleus. Ubiquitinates IGF1R and SNAI1 and promotes them to proteasomal degradation (PubMed:12821780, PubMed:15053880, PubMed:15195100, PubMed:15632057, PubMed:16337594, PubMed:17290220, PubMed:19098711, PubMed:19219073, PubMed:19837670, PubMed:19965871, PubMed:20173098, PubMed:20385133, PubMed:20858735, PubMed:22128911). Ubiquitinates DCX, leading to DCX degradation and reduction of the dendritic spine density of olfactory bulb granule cells (By similarity). Ubiquitinates DLG4, leading to proteasomal degradation of DLG4 which is required for AMPA receptor endocytosis (By similarity). Negatively regulates NDUFS1, leading to decreased mitochondrial respiration, marked oxidative stress, and commitment to the mitochondrial pathway of apoptosis (PubMed:30879903). Binds NDUFS1 leading to its cytosolic retention rather than mitochondrial localization resulting in decreased supercomplex assembly (interactions between complex I and complex III), decreased complex I activity, ROS production, and apoptosis (PubMed:30879903)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; MDM2 gene spans approximately 33 kb and is divided into 12 exons., [RefSeq, PubMed]; MDM2 has been characterized as a protein that binds to and facilitates degradation of the tumor suppressor p53. Splice variants of MDM2 transcripts have been identified in both tumors and normal tissues. Review article, [RefSeq, PubMed]; MDM2 splice variants is significantly assiciated with oral squamous cell carcinoma and increased the risk of oral squamous cell carcinoma development, [RefSeq, PubMed]; This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013]., [RefSeq]; Two upstream open reading frames of oncogene mdm2 may play a fundamental role in regulating expression of the mdm2 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": 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": 54, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 19, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NL51;A8K2S6;Q13226;Q13297;Q13298;Q13299;Q13300;Q13301;Q53XW0;Q71TW9;Q8WYJ1;Q8WYJ2;Q9UGI3;Q9UMT8", "ec_number_list": "2.7.11.1;3.4.19.12;2.3.2.-;2.7.11.22;2.7.11.23;2.3.2.27;3.4.25.1;2.7.1.153;2.7.1.137;3.6.5.5;3.1.3.67;3.1.3.-;3.1.3.16;3.1.3.48;2.7.11.17;2.7.12.1", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0043021 ribonucleoprotein complex binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0016925 protein sumoylation;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 57.0, "record_id": "Q00987-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35611-1", "uniprot_id": "ADDA_HUMAN", "mass": 80955.0, "length": 737, "protein_name": "Alpha-adducin", "gene_name": "ADD1", "organism": "Human", "refseq_name": "alpha-adducin isoform a", "refseq_ac": "NP_001110", "gene_names_uniprotkb": "ADD1; ADDA", "gene_names_refseq": "ADD1; ADDA", "protein_names_uniprotkb": "Alpha-adducin; Erythrocyte adducin subunit alpha", "protein_names_refseq": "adducin 1 (alpha); alpha-adducin 1; alpha-adducin isoform a; alpha-adducin; erythrocyte adducin alpha subunit", "tax_id": 9606, "disease": "spastic quadriplegic cerebral palsy 3 (Disease Ontology:DOID:0081361); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); hydrocephalus (Disease Ontology:DOID:10908); gastroschisis (Disease Ontology:DOID:11044); familial combined hyperlipidemia (Disease Ontology:DOID:13809); atherosclerosis (Disease Ontology:DOID:1936); cerebral palsy (Disease Ontology:DOID:1969); IgA glomerulonephritis (Disease Ontology:DOID:2986); temporal lobe epilepsy (Disease Ontology:DOID:3328); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:118); (R-HSA-264870); (R-HSA-381038); (R-HSA-5223345)", "pathway_count": 4, "publication_count": 189, "publication_id_list": "10209029;10391210;10469173;10564664;10571941;10601334;10823823;10827079;10891503;10899937;10947843;11237011;11326272;11326338;11401429;11423904;11689006;12204115;12297987;12297989;1284592;12951058;13130483;1345173;14984739;15302935;15466936;15804357;15910744;16461360;16539657;17081983;17166836;17287340;18057121;18088087;18347014;1840603;18452278;18491316;18510355;18664523;18669648;18767875;18930737;19262752;19413330;19415658;19531498;1955075;19651622;19664994;19664995;19690332;19717468;20058876;20068231;20166139;21282569;21406692;21993680;22119785;22424782;22649030;23169667;23186163;23301498;23481700;23783831;24275569;24366607;24379415;24714562;24715725;24725410;24790029;25418920;25576301;25645385;25880248;26154972;26375851;26620797;26635246;26824658;26992070;27102039;27600516;27846572;27862975;27920218;28228285;28352266;28657654;28832583;28834231;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29632711;29769354;29786170;29789417;29925526;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31492838;31530632;31548578;31844290;31848261;31937595;32119511;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32971583;32983136;33123756;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34509645;34725712;34859687;34932366;35008409;35051231;35132862;35254053;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38665916;39352780;4018271;40307207;40914422;7489707;7590364;7615546;7619062;7749638;7774961;8666242;8810272;9037597;9114041;9323209;9450183;9473480;9537412;9624143;9674650;9679146;9930654", "class_list": "", "function": "Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this gene represents the alpha subunit. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. [provided by RefSeq, Aug 2017]., [RefSeq]; Alpha-adducin 1 (rs4961) gene and its expression associated with sodium sensitivity in hypertensive patients: a cohort study in the western Ukrainian population. Publication Status: Online-Only, [RefSeq, PubMed]; Association of TBXA2R, P2Y12 and ADD1 genes polymorphisms with ischemic stroke susceptibility: A metaanalysis. Publication Status: Online-Only, [RefSeq, PubMed]; Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The adducin saga: pleiotropic genomic targets for precision medicine in human hypertension-vascular, renal, and cognitive diseases. Review article, [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": 50, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 12, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A2A3N8;A2A3P0;B4DI79;D3DVR3;D3DVR4;D3DVR5;Q13734;Q14729;Q16156;Q86XM2;Q9UJB6", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003779 actin binding;GO:0005516 calmodulin binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0030036 actin cytoskeleton organization;GO:0051016 barbed-end actin filament capping;GO:0051017 actin filament bundle assembly;GO:0071277 cellular response to calcium ion;GO:1903142 positive regulation of establishment of endothelial barrier", "synthesized_glycan_count": 0, "hit_score": 20.1, "record_id": "P35611-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BV23-1", "uniprot_id": "ABHD6_HUMAN", "mass": 38331.0, "length": 337, "protein_name": "Monoacylglycerol lipase ABHD6", "gene_name": "ABHD6", "organism": "Human", "refseq_name": "monoacylglycerol lipase ABHD6", "refseq_ac": "NP_001307055", "gene_names_uniprotkb": "ABHD6", "gene_names_refseq": "ABHD6", "protein_names_uniprotkb": "Monoacylglycerol lipase ABHD6; 2-arachidonoylglycerol hydrolase; 3.1.1.23; Abhydrolase domain-containing protein 6", "protein_names_refseq": "2-arachidonoylglycerol hydrolase; abhydrolase domain-containing protein 6; lipase protein; monoacylglycerol lipase ABHD6", "tax_id": 9606, "disease": "", "pathway": " (hsa:57406); (R-HSA-426048)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10348910;11237011;18096503;18360779;19126434;19793082;21418147;22827915;22969151;23481700;24715725;25576301;25880248;25892735;26491015;27846572;28218747;28228285;28904123;29393594;29557506;29632046;29769354;30315122;30728209;30894461;31844290;32143183;32157095;32357974;32387766;32938616;33298915;33912179;33936100;34932366;35051231;37938771;38197491;7295321", "class_list": "", "function": "ABHD6 increases from neonatal age. Publication Status: Online-Only, [RefSeq, PubMed]; ABHD6 suppresses colorectal cancer progression via AKT signaling pathway., [RefSeq, PubMed]; Data show that the three hydrolases are genuine MAG lipases; medium-chain saturated MAGs were the best substrates for hABHD6 and hMAGL, whereas hABHD12 preferred the 1 (3)- and 2-isomers of arachidonoylglycerol., [RefSeq, PubMed]; Enhanced monoacylglycerol lipolysis by ABHD6 promotes NSCLC pathogenesis., [RefSeq, PubMed]; High expression of ABHD6 in Ewing family tumors (EFT) in comparison to normal tissues and other tumors suggests that ABHD6 might be an interesting new diagnostic or therapeutic target for EFT., [RefSeq, PubMed]; It demonstrate that ABHD6 affect Bis(monoacylglycerol)phosphate (BMP) metabolism in mice and humans., [RefSeq, PubMed]; Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways (By similarity). Also has a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity). Also able to degrade bis(monoacylglycero)phosphate (BMP) and constitutes the major enzyme for BMP catabolism (PubMed:26491015). BMP, also known as lysobisphosphatidic acid, is enriched in late endosomes and lysosomes and plays a key role in the formation of intraluminal vesicles and in lipid sorting (PubMed:26491015)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Report the tissue distribution, subcellular location and differential distribution among cancer cell lines of Abhd6, one unannotated member of this group, [RefSeq, PubMed]; We discovered a regulatory role of ABHD6 in human plasmacytoid dendritic cells (pDCs) through modulating the local abundance of its substrate, the endocannabinoid 2-arachidonyl glycerol (2-AG), and elucidated a hitherto unknown cannabinoid receptor 2-mediated regulatory role of 2-AG on IFN-alpha induction by pDCs., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B2R7Y9;Q6ZMF7", "ec_number_list": "3.5.1.99;3.1.1.-;3.1.1.1;3.1.1.56;3.1.1.84;3.1.1.3;3.1.1.23;3.1.-.-;3.3.2.9;3.1.1.79;3.1.1.6;3.1.1.13;3.1.1.26;3.1.1.4;3.1.1.5;3.1.1.111", "go_molecular_function": "GO:0004620 phospholipase activity;GO:0047372 monoacylglycerol lipase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:2001311 lysobisphosphatidic acid metabolic process;GO:0099178 regulation of retrograde trans-synaptic signaling by endocanabinoid;GO:0009395 phospholipid catabolic process;GO:0046464 acylglycerol catabolic process;GO:0046889 positive regulation of lipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9BV23-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P14927-1", "uniprot_id": "QCR7_HUMAN", "mass": 13530.0, "length": 111, "protein_name": "Cytochrome b-c1 complex subunit 7", "gene_name": "UQCRB", "organism": "Human", "refseq_name": "cytochrome b-c1 complex subunit 7 isoform 2", "refseq_ac": "NP_001186904", "gene_names_uniprotkb": "UQCRB; UQBP", "gene_names_refseq": "MC3DN3; QCR7; QP-C; QPC; UQBC; UQBP; UQCR6; UQCRB; UQPC", "protein_names_uniprotkb": "Cytochrome b-c1 complex subunit 7; Complex III subunit 7; Complex III subunit VII; QP-C; Ubiquinol-cytochrome c reductase complex 14 kDa protein", "protein_names_refseq": "complex III subunit 7; complex III subunit VII; cytochrome b-c1 complex subunit 7 isoform 2; cytochrome b-c1 complex subunit 7; mitochondrial ubiquinone-binding protein; ubiquinol-cytochrome c reductase complex 14 kDa protein; ubiquinol-cytochrome c reductase, complex III subunit VI", "tax_id": 9606, "disease": "mitochondrial complex III deficiency nuclear type 3 (Disease Ontology:DOID:0080112); depressive disorder (Disease Ontology:DOID:1596); inherited metabolic disorder (Disease Ontology:DOID:655)", "pathway": " (hsa:7381); (R-HSA-611105); (R-HSA-9865881)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10327278;11237011;11695836;12231006;12709789;12837546;1327877;14741580;15250827;16230336;17033964;186667;21278747;2159470;22544926;23150584;23168492;23270816;23481700;23564345;23747254;239860;24385928;25008109;25418920;2543413;25564869;25576301;25605331;26768311;26811146;26992070;27452731;28228285;28380382;28510447;28673544;28832583;28844695;29242379;29243944;29393594;29437277;29557506;29632046;29632711;30192525;30315122;30524438;3056408;30833945;31222486;31530632;31611695;31844290;31937595;31998317;32157095;32357974;32387766;32488085;32897882;32929120;33141586;33298915;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34405274;34509645;34561969;34932366;34969438;35051231;35341793;36010968;36215666;36241641;38459019;4288886;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]; Disruption of mitochondrial complex III in cap mesenchyme but not in ureteric progenitors results in defective nephrogenesis associated with amino acid deficiency., [RefSeq, PubMed]; N-Acetyltransferase 10 represses Uqcr11 and Uqcrb independently of ac4C modification to promote heart regeneration. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E5RJU0;Q6FGD1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045275 respiratory chain complex III;GO:0098803 respiratory chain complex", "go_biological_process": "GO:0006119 oxidative phosphorylation;GO:0009060 aerobic respiration;GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "P14927-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13136-1", "uniprot_id": "LIPA1_HUMAN", "mass": 135779.0, "length": 1202, "protein_name": "Liprin-alpha-1", "gene_name": "PPFIA1", "organism": "Human", "refseq_name": "liprin-alpha-1 isoform b", "refseq_ac": "NP_003617", "gene_names_uniprotkb": "PPFIA1; LIP1", "gene_names_refseq": "LIP.1; LIP1; LIPRIN; PPFIA1", "protein_names_uniprotkb": "Liprin-alpha-1; LAR-interacting protein 1; LIP-1; PTPRF-interacting protein alpha-1; Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1", "protein_names_refseq": "LAR-interacting protein 1; LIP-1; Liprin-alpha1; PTPRF interacting protein alpha 1; liprin-alpha-1 isoform b; liprin-alpha-1; protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1; protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8500); (R-HSA-181429); (R-HSA-181430); (R-HSA-210500); (R-HSA-212676); (R-HSA-264642); (R-HSA-388844)", "pathway_count": 7, "publication_count": 109, "publication_id_list": "10.1101/2023.09.13.557529;10440375;10620514;11001057;11015561;11027560;11068039;11237011;11242046;11756489;12519779;1339386;15750591;15935055;16116111;16616430;17081983;17301226;17322306;17478680;17525332;17766642;17891149;17989281;18077418;18212344;18215623;18220336;18617632;18669648;18767875;19252495;19413330;19651622;19664994;19664995;19690332;20068231;20139422;21262467;21406692;21940441;22286174;22357843;23186163;23301498;23345436;23363473;23481700;24120883;24275569;24578174;25385546;25576301;25645385;25892735;25908590;26811146;26992070;27600516;27920218;28760951;28832583;28834231;28904123;2892215;29242379;29393594;29557506;29632046;29632711;29786170;29789417;30315122;31844290;3214421;32157095;32387766;32502341;32897882;32938616;32983136;33298915;33592498;33761347;33912179;33968037;33981976;34087483;34405274;34509645;34932366;35051231;35318648;35580925;36010968;36284347;37158817;38264964;7796809;7823026;8071310;8095030;8211186;8524829;9260930;9624153;9701566;9753324", "class_list": "", "function": "High expression of PPFIA1 in human esophageal squamous cell carcinoma correlates with tumor metastasis and poor prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; Liprin-alpha1 contributes to oncogenic MAPK signaling by counteracting ERK activity., [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]; Oligomerized liprin-alpha promotes phase separation of ELKS for compartmentalization of presynaptic active zone proteins. Erratum:[Cell Rep. 2021 Jul 27;36(4):109476. doi: 10.1016/j.celrep.2021.109476. PMID: 34320361], [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. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms 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": 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": 25, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "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": "A6NLE3;Q13135;Q14567;Q8N4I2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0005938 cell cortex;GO:0048786 presynaptic active zone", "go_biological_process": "GO:0007165 signal transduction;GO:0050808 synapse organization;GO:0007160 cell-matrix adhesion;GO:1903077 negative regulation of protein localization to plasma membrane;GO:0051497 negative regulation of stress fiber assembly", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q13136-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95573-1", "uniprot_id": "ACSL3_HUMAN", "mass": 80420.0, "length": 720, "protein_name": "Fatty acid CoA ligase Acsl3", "gene_name": "ACSL3", "organism": "Human", "refseq_name": "fatty acid CoA ligase Acsl3", "refseq_ac": "NP_004448", "gene_names_uniprotkb": "ACSL3; ACS3; FACL3; LACS3", "gene_names_refseq": "ACS3; ACSL3; FACL3; LACS 3; LACS3; PRO2194", "protein_names_uniprotkb": "Fatty acid CoA ligase Acsl3; 6.2.1.15; 6.2.1.2; 6.2.1.3; Arachidonate--CoA ligase; LACS 3; Long-chain acyl-CoA synthetase 3; Long-chain-fatty-acid--CoA ligase 3; Medium-chain acyl-CoA ligase Acsl3", "protein_names_refseq": "arachidonate--CoA ligase; fatty acid CoA ligase Acsl3; fatty-acid-Coenzyme A ligase, long-chain 3; lignoceroyl-CoA synthase; long-chain acyl-CoA synthetase 3; long-chain-fatty-acid--CoA ligase 3; medium-chain acyl-CoA ligase Acsl3", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability (Disease Ontology:DOID:0050776); non-syndromic X-linked intellectual disability 63 (Disease Ontology:DOID:0112050); prostate cancer (Disease Ontology:DOID:10283); lung cancer (Disease Ontology:DOID:1324); Sjogren-Larsson syndrome (Disease Ontology:DOID:14501); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:2181); (R-HSA-434313); (R-HSA-75876)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10548543;10954726;11237011;11707336;11889465;12371743;12482854;12525535;12975357;15302935;15469937;15677505;16036915;16371355;17379924;17681178;17762044;18003621;18554506;18691976;18728184;19505953;19826053;20068231;20937905;21959040;22544926;22633490;23186163;23481700;24714562;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26811146;26992070;27600516;27846572;27920218;28193492;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32286604;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33030783;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34561969;34725712;34932366;35051231;35083852;35154160;35182729;35251023;35318648;35580925;36010968;36215666;36241641;36284347;37217939;37583046;37938771;38665916;39285846;39894887;8075637;9177793", "class_list": "", "function": "ANKRD1 aggravates renal ischaemia-reperfusion injury via promoting TRIM25-mediated ubiquitination of ACSL3., [RefSeq, PubMed]; Activation of MAT2A-ACSL3 pathway protects cells from ferroptosis in gastric cancer., [RefSeq, PubMed]; Acyl-CoA synthetases (ACSL) activates long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:22633490). Required for the incorporation of fatty acids into phosphatidylcholine, the major phospholipid located on the surface of VLDL (very low density lipoproteins) (PubMed:18003621). Has mainly an anabolic role in energy metabolism. Mediates hepatic lipogenesis. Preferentially uses myristate, laurate, arachidonate and eicosapentaenoate as substrates. Both isoforms exhibit the same level of activity (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Immunohistochemical staining reveals differential expression of ACSL3 and ACSL4 in hepatocellular carcinoma and hepatic gastrointestinal metastases., [RefSeq, PubMed]; Metabolic enzyme ACSL3 is a prognostic biomarker and correlates with anticancer effectiveness of statins in non-small cell lung cancer., [RefSeq, PubMed]; The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; [Research advances on the role of ACSL3 in the atherosclerosis]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q60I92;Q8IUM9", "ec_number_list": "6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;6.2.1.2;6.2.1.25;6.2.1.17", "go_molecular_function": "GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0019904 protein domain specific binding;GO:0004467 long-chain fatty acid-CoA ligase activity;GO:0047676 arachidonate-CoA ligase activity", "go_cellular_component": "GO:0005741 mitochondrial outer membrane;GO:0005778 peroxisomal membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005811 lipid droplet", "go_biological_process": "GO:0001676 long-chain fatty acid metabolic process;GO:0006631 fatty acid metabolic process;GO:0035338 long-chain fatty-acyl-CoA biosynthetic process;GO:0034379 very-low-density lipoprotein particle assembly;GO:0042998 positive regulation of Golgi to plasma membrane protein transport", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "O95573-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30154-1", "uniprot_id": "2AAB_HUMAN", "mass": 66214.0, "length": 601, "protein_name": "Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform", "gene_name": "PPP2R1B", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform isoform d", "refseq_ac": "NP_001171033", "gene_names_uniprotkb": "PPP2R1B", "gene_names_refseq": "PP2A-Abeta; PPP2R1B; PR65B", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform; PP2A subunit A isoform PR65-beta; PP2A subunit A isoform R1-beta", "protein_names_refseq": "protein phosphatase 2, regulatory subunit A, beta; protein phosphatase 2, structural/regulatory subunit A, beta; serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform isoform d", "tax_id": 9606, "disease": "lung cancer (Disease Ontology:DOID:1324)", "pathway": " (hsa:5519); (R-HSA-113501); (R-HSA-141430); (R-HSA-141444); (R-HSA-163767); (R-HSA-180024); (R-HSA-195253); (R-HSA-196299); (R-HSA-198753); (R-HSA-202670); (R-HSA-2465910); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-389356); (R-HSA-389513); (R-HSA-432142); (R-HSA-4641262); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5467337); (R-HSA-5467340); (R-HSA-5467348); (R-HSA-5663220); (R-HSA-5673000); (R-HSA-5675221); (R-HSA-6804757); (R-HSA-6811558); (R-HSA-68877); (R-HSA-69231); (R-HSA-69273); (R-HSA-9634600); (R-HSA-9648025); (R-HSA-9833482); (R-HSA-9860927)", "pathway_count": 37, "publication_count": 683, "publication_id_list": "10023660;10082513;10092233;10095107;10196136;10205168;10206983;10207050;10348343;10385618;10393926;10395539;10400669;10411507;10415025;10421629;10428961;10481074;10487827;10490027;10499802;10581160;10597236;10600115;10600384;10604473;10608892;10620360;10626894;10648614;10652300;10678165;10684251;10694513;10698523;10700176;10702794;10712905;10722742;10749138;10754332;10757792;10799894;10801873;10827953;10831586;10848580;10862053;10866685;10891492;10896920;10921899;10958683;10980695;10980696;11003670;11032757;11032810;11063929;11073976;11081627;11096080;11134010;11152499;11156368;11157749;11181178;11231573;11237011;11238103;11238451;11238927;11278865;11313745;11313932;11313968;11325826;11336703;11337501;11350938;11359766;11371342;11375957;11416152;11438540;11494123;11500375;11504915;11509732;11522655;11535616;11707456;11719808;11738041;11741534;11746989;11756411;11781817;11804586;11861647;11884610;11897663;11907280;11909525;11923872;11939789;11955436;11976720;11983168;11985496;11994459;11996789;12000790;12006501;12065642;12067995;12101426;12194817;12231563;12244094;12397061;12411508;12429848;12435635;12439748;12444543;12474228;12551923;12554650;12577064;12583813;12670497;12679384;12721358;12732141;12754270;12775720;12805219;12820959;12852857;12876557;12882984;12932319;12932339;1325671;1373135;1384126;1423597;14507994;14517297;14527418;14530258;14585331;14597415;14724641;14730319;14731402;14766746;15006353;15024056;15035987;15053880;15073180;15084453;15085137;15142525;15229216;15258589;15299030;15306667;15327769;15339662;1535557;15456846;15459198;1546328;15467451;15507212;15572030;15579463;15664191;15681612;15710605;15711535;15723797;15735151;15737063;15737233;15752359;15788536;15851477;15864301;15866170;15896703;15899852;15907845;15916963;15944396;16034111;16041367;16082208;16093354;1614537;16163388;16179258;16179259;16195327;16292343;16294014;16341016;16341017;16364920;16373505;16402859;16431927;16439214;16456541;16474402;16508002;16537381;16541025;16551244;16582612;16600570;16600872;16622419;16622420;16630891;16682347;16717090;16753179;16782892;16818765;16845383;16890161;16890222;16892053;16943183;1695551;16982605;17030981;17079286;17092340;17097642;17112726;17113138;17121812;17129783;17143292;1717476;17183061;17196341;17196820;17198702;17200115;17204608;17254966;17254967;17318175;17322878;17339487;1737036;17510365;17529994;17533373;17535922;17569865;17699597;17724343;17908796;17991896;18001770;18077588;18096616;18097444;18280240;18281465;1828290;1828392;1828393;1828394;18285455;18294816;18311776;18332145;18339531;18362152;1836978;18384749;18394995;18414028;18452278;18515281;18547165;18606139;18632848;18662992;18710949;18716626;18757411;18802091;18827403;18835251;18923426;18957415;18991276;19049963;19061640;19075005;19091743;19107203;19158341;19160488;19192479;19229320;19237556;19350017;19405949;19416861;19458076;19487459;19541618;19576174;19619488;19661920;19684605;19696148;19710021;19727074;19733181;19756449;19760609;19802005;19804757;19815554;19816404;19838063;19838211;19896182;19933846;19965387;20030946;20068231;20101212;20107323;20227366;20332238;20360007;20395957;20438709;20519500;20591975;20663872;20674547;20685959;20713061;20820846;20843055;20952511;21072047;21111234;21123651;21148482;21164013;21164014;21183070;21183076;21248786;21252990;21294215;21397845;21423214;21441104;21441910;21444715;21518807;21576392;2159327;21636578;21715330;21730132;21730163;21779496;21813648;21868368;21878504;21900495;21937648;21978664;21986495;21987589;21994559;22094460;22101459;22214662;22275430;22354989;22424782;22438566;2247437;22544926;22592532;22608513;22730326;22761442;22790947;22885700;22986343;23007395;23074275;23084476;23105109;23222643;23229543;23242214;23256519;23301498;23360980;23481700;23579495;23622515;23732991;23737759;23801653;23863182;23906342;23993095;24121489;24211266;24347309;24347342;24366607;24397554;24515438;24623135;24659800;24714562;24715725;24753571;24876129;24914801;24937142;25314968;25418920;25469497;25576301;25576336;25597358;25645385;25653431;25733683;25740311;25789526;25802875;25848059;25892735;25907612;25965804;26154972;26343583;26375851;26432638;26446704;26488609;26716879;26768311;26811146;26817845;26992070;27208315;27264673;27269119;27423063;27600516;27846572;27862975;27893789;27920218;27974558;27999210;28069888;28082416;28167698;28228285;28281686;28289718;2837207;28510447;28514659;28649982;28666118;28765891;28832583;28834231;28855257;28904123;28984291;29154753;29170442;29175459;29231267;29242379;29331515;29348664;29393594;29394925;29395325;29440070;29461827;29493099;29501855;29508533;29557506;29632046;29632711;29786170;30174290;30315122;30429286;30484775;3052289;30524438;30711375;30770398;31031002;31154438;31217245;31408443;31409757;31543423;31844290;32037480;32093270;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32673515;32716602;32801355;32938616;32983136;33141586;33298915;33392160;33402344;33537174;33592498;33691108;33717175;33771996;33808629;33911136;33912179;33913576;33936100;33968037;34019948;34087483;34171305;34174402;34211107;34260926;34357683;34509645;34561969;34932366;34974812;35051231;35318648;35561310;35580925;35685460;35947956;36010968;36241641;36581221;36712380;37127961;37243830;40914422;6087160;6296685;6330098;6501302;7491766;7515177;7542586;7545299;7565688;7574501;7686617;7693978;7737117;7737357;7743995;7744815;7784084;7797074;7799941;7903669;7954814;7957050;8114739;8119945;8139570;8245441;8246996;8259518;8259519;8319905;8336704;8428596;8440392;8479525;8497257;8521512;8521513;8521514;8576172;8576179;8609386;8637718;8638126;8638161;8649453;8661426;8663227;8757136;8810342;8876196;8887688;8910500;8946678;8946910;8954786;9020159;9034327;9034343;9042862;9065402;9079663;9099992;9106657;9144196;9190208;9230313;9234708;9268380;9325318;9371714;9442054;9447971;9448290;9464277;9482734;9508775;9521856;9528799;9556553;9601641;9635432;9649308;9649503;9670027;9679058;9687506;9687510;9689060;9712716;9737981;9765152;9795170;9819388;9823899;9858547;9892021;9920933;9973466;9990852", "class_list": "", "function": "Lnc-PPP2R1B Mediates the Alternative Splicing of PPP2R1B by Interacting and Stabilizing HNRNPLL and Promotes Osteogenesis of MSCs., [RefSeq, PubMed]; PPP2R1B is modulated by ubiquitination and is essential for spermatogenesis., [RefSeq, PubMed]; The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit., [UniProtKB]; This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8MY67;B0YJ69;B4DGQ6;B4DK91;B4DWW5;F8W8G1;O75620;Q8NHV8", "ec_number_list": "", "go_molecular_function": "GO:0019888 protein phosphatase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045121 membrane raft;GO:0070062 extracellular exosome", "go_biological_process": "GO:0051754 meiotic sister chromatid cohesion, centromeric;GO:0060561 apoptotic process involved in morphogenesis;GO:2001241 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;GO:0051225 spindle assembly", "synthesized_glycan_count": 0, "hit_score": 68.6, "record_id": "P30154-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q04206-1", "uniprot_id": "TF65_HUMAN", "mass": 60219.0, "length": 551, "protein_name": "Transcription factor p65", "gene_name": "RELA", "organism": "Human", "refseq_name": "transcription factor p65 isoform 2", "refseq_ac": "NP_001138610", "gene_names_uniprotkb": "RELA; NFKB3", "gene_names_refseq": "AIF3BL3; CMCU; NFKB3; RELA; p65", "protein_names_uniprotkb": "Transcription factor p65; Nuclear factor NF-kappa-B p65 subunit; Nuclear factor of kappa light polypeptide gene enhancer in B-cells 3", "protein_names_refseq": "NF-kappa-B p65delta3; NF-kappa-B transcription factor p65; nuclear factor NF-kappa-B p65 subunit; nuclear factor of kappa light polypeptide gene enhancer in B-cells 3; p65 iso5 isoform delta 10; p65 iso5 isoform delta 6/7; transcription factor p65 isoform 2; transcription factor p65; v-rel avian reticuloendotheliosis viral oncogene homolog A", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); obstructive sleep apnea (Disease Ontology:DOID:0050848); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); lymphoma (Disease Ontology:DOID:0060058); ductal carcinoma in situ (Disease Ontology:DOID:0060074); colitis (Disease Ontology:DOID:0060180); mastoiditis (Disease Ontology:DOID:0060322); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); Parkinsonism (Disease Ontology:DOID:0080855); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); bacterial infectious disease (Disease Ontology:DOID:104); otitis media (Disease Ontology:DOID:10754); hypertension (Disease Ontology:DOID:10763); cholesteatoma of middle ear (Disease Ontology:DOID:10964); urinary bladder cancer (Disease Ontology:DOID:11054); prostatic hypertrophy (Disease Ontology:DOID:11132); primary biliary cholangitis (Disease Ontology:DOID:12236); uveitis (Disease Ontology:DOID:13141); renovascular hypertension (Disease Ontology:DOID:1591); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); arteriosclerosis (Disease Ontology:DOID:2349); prostate adenocarcinoma (Disease Ontology:DOID:2526); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); liver cirrhosis (Disease Ontology:DOID:5082); pulmonary hypertension (Disease Ontology:DOID:6432); end stage renal disease (Disease Ontology:DOID:783); prostate carcinoma in situ (Disease Ontology:DOID:8634); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); steatotic liver disease (Disease Ontology:DOID:9452); encephalitis (Disease Ontology:DOID:9588); obesity (Disease Ontology:DOID:9970); mucocutaneous ulceration, chronic (MONDO:MONDO:0032659)", "pathway": " (hsa:5970); (R-HSA-1169091); (R-HSA-1810476); (R-HSA-193692); (R-HSA-202424); (R-HSA-209560); (R-HSA-2559582); (R-HSA-2871837); (R-HSA-3134963); (R-HSA-3214841); (R-HSA-381340); (R-HSA-445989); (R-HSA-448706); (R-HSA-4755510); (R-HSA-5603029); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5621575); (R-HSA-5660668); (R-HSA-844456); (R-HSA-8853884); (R-HSA-9020702); (R-HSA-933542); (R-HSA-9660826); (R-HSA-9692916); (R-HSA-9818749); (R-HSA-9860927); (R-HSA-9909649); (R-HSA-9958825)", "pathway_count": 29, "publication_count": 856, "publication_id_list": "10022904;10066435;10075656;10075690;10187770;10201372;10230406;10318916;10321728;10425206;10432220;10498867;10514424;10514433;10521409;10548110;10593898;10660609;10698680;10702308;10716940;10721994;10723127;10779524;10838074;10854325;10882101;10918611;10928981;10938077;10949293;11017109;11053425;11057907;11073981;11090634;11094434;11095972;11114305;11124955;11157473;11237011;11239468;11262391;11313357;11325957;11340163;11358993;11460167;11498534;11520989;11526476;11533489;11606584;11772397;11786556;11872672;11884229;11931769;11940647;11959841;11960013;11967258;12070292;12118249;12123582;12130538;12191486;12213831;12221085;12398897;12419806;12419817;12453418;12456660;12473183;12473184;12496252;12515809;12538665;12540855;12615073;12628924;12646168;12660731;12670868;12748188;12791687;12829629;12832467;12842894;12843241;12860405;12871932;12881425;12913006;14514672;14523047;14536086;14595024;14625308;14651848;14676825;14679213;14690596;14690610;14695475;14711835;14713228;14761955;14769797;1493333;14992727;15016307;15029197;15073167;15105418;15113757;15122200;15125833;15125834;15128824;15140882;15145317;15145825;15192014;15208624;15210811;15226358;15235609;15273253;15327770;15337789;15340381;15355351;15371334;15465828;15489227;15496460;15516339;15520807;15531529;15541657;15611068;15611276;15629770;15701642;1574116;15774718;15775976;15790681;15799966;15802625;15845454;15850785;15917247;15919796;15964846;15970704;15980040;16000401;16007163;16034126;16046471;16056267;16105840;16115877;16118227;16135789;16163708;16186825;16199523;16214042;16252004;16261446;16292313;16301747;16303288;16341139;16356853;16356855;16356856;16380219;16382138;16407239;16407467;16424027;16434485;16452207;16477006;16497732;16498455;16513650;16519522;16612002;16626623;16682010;16735506;16805913;16806820;16831874;16840782;16875840;16906147;16928747;16978534;17000776;17008051;17011499;17012367;17021013;17035307;17036048;17047224;17072321;17135271;17136479;17141195;17158449;17183360;17270291;17317104;1732726;17349957;17363905;17397830;1740106;17412287;17428801;17435760;17462920;17467953;17468049;17496917;17500065;17507369;17544230;17548359;17548605;1756723;17576778;17595324;17596301;17603038;17617622;17620405;17641058;17675297;17692505;17703304;17707229;17728323;17761676;17785205;17882263;17890055;17911635;17932028;17948050;17953764;17959673;17975552;17980149;17982104;17991436;17997719;18056447;18062909;18070609;18070982;18172012;18178962;18180283;18191107;18201972;18212740;18241676;18258304;18267069;18276112;18280240;1828071;18310089;1833184;18385332;18405956;18411265;18412279;18424071;18424438;18438411;18439422;18453612;18462684;18462924;18477470;18501560;18555777;18555778;18577712;18617892;18621420;18627520;18657320;18701687;18720410;18771813;18772140;18931025;18941233;18988733;18996613;19038492;19043829;19058135;19066035;19073147;19088198;19103749;19115207;19122653;19135383;19157506;19172745;19197368;19201871;19201908;19264966;19265173;19270718;19285061;19288477;19297320;19303015;19359218;19380580;19398035;19570822;19587216;19590578;19608861;19666475;19668231;19706715;19746155;19751727;19805069;19808676;19903815;19909372;19910110;19911008;19933278;19934406;20023662;20028861;20038579;20043992;20051109;2006423;20065107;20101261;20138622;20164180;20186265;20188669;20193029;20194077;20204068;20300203;20303873;20351173;20363321;20406326;20410276;20449947;20451669;20452968;20482821;20501935;20507904;20538596;20547752;20562110;20639196;20685844;20686703;20696864;20696886;20805562;20850430;20855622;20882529;20952659;21081649;21115974;21131967;21169414;21182083;21196496;21232017;21325273;21334436;21344491;2139180;21451502;2147937;21492457;21515635;21518757;21525931;21546906;21549062;21556136;21598036;21630326;21665565;21670496;21697472;21734707;21765477;21779408;21816815;21820409;2182768;2183031;21832073;21935477;21945666;21966355;21979375;22036506;22046132;22069318;22078572;22081069;22099308;22102084;22108091;22117219;22155370;22178396;22216091;22226621;22253733;22265677;22267217;22312431;22384180;22406367;22424782;22527100;22581777;22634325;22649547;22666431;22715377;22718757;22733812;22750558;22768286;22778400;22789539;22797919;22798961;22815798;22842493;22847000;22939622;22996371;23016877;23027940;23056468;23056624;23064013;23077289;23118497;23141142;23166834;23239344;23269273;23300567;23343403;23383209;23408313;23454654;23455325;23468625;23481700;23483519;23536830;23588592;23592772;23593410;23619300;23666959;23696745;23708964;23784084;23812431;23817414;23846687;23878142;23936501;24019758;24023820;24039253;2405250;24063540;24074955;24155403;24216290;24248603;24298019;24337575;24349042;24509444;24553141;24574500;24582884;24586253;24621265;24622840;24690380;24706756;24715725;24807716;24854014;24911931;24943908;24957606;25055998;25074812;25074923;25135833;25187543;25197166;25201625;25218447;25240403;25289898;25344476;25350220;25355951;25390157;25450975;25505266;25576301;25601191;25620704;25645385;25722974;25764917;25862606;25907116;25915426;25974126;26041281;26082493;26116704;26154972;26165401;26246800;26305102;26320399;26375851;26375985;26378163;26460486;26463037;26463447;26549800;26729520;26826124;26872379;27127301;27149922;27164085;27203180;27221592;27244888;27329558;27349797;27466442;27466718;27543462;27600516;27630163;27679575;27701768;27721021;27736973;27793942;27846572;27862975;27920218;28105499;28107185;28148787;28159925;28228285;28228555;28317833;28317937;28381553;28416608;28423685;28423737;28510447;28545028;28600438;28629477;28646109;28649982;28681591;28832583;28834231;28845524;28849713;28859166;28861343;28904123;29044191;29070839;29088737;29088783;29207489;29212169;29242379;29285221;29294448;29305315;29331515;29331583;29351928;29352261;29378189;29393594;29450944;29467405;2946959;29493099;29508533;29526543;29557506;29601651;29616186;29632046;29632711;29706631;29712950;29748881;29770869;29786170;29786670;29813070;29867198;29891820;29911313;29980758;30029010;30057418;30086259;30104883;30185776;30315122;30320402;30338926;30385408;30429286;30524438;30526044;30622239;30766526;30779550;30814284;30828266;30833945;30992075;30995931;31026442;31034780;31092671;31154438;31197122;31217245;31222140;31231549;31242600;3129195;31337264;31363150;31364735;31408443;31432514;31510045;31626956;31637018;31819048;31844290;31848261;31867269;31998317;32037480;32114385;32119511;32157095;32161166;32183950;32357974;32386462;32387766;32450513;32455851;32501683;32502341;32582032;32640524;32649885;32673515;32728199;32753387;32860047;32897882;32938616;32983136;33060197;33214551;33298915;33314660;33438746;33440148;33459422;33486415;33515544;33537174;33579825;33592498;33691108;33717175;33754052;33791306;33859744;33968037;34019948;34087483;34215617;34229054;34357683;34380537;34405274;34509645;34725712;35029639;35051231;35081975;35254053;35269913;35318648;35561310;35580925;36007275;36010968;36032089;36081816;36241641;36264688;36413416;37835439;37938771;38665916;39199380;39242546;39269442;39278618;40529355;40989161;41168892;41410501;450099;7479848;7479976;7499357;7510216;7512451;7517401;7575604;7612269;7628694;7809113;7831327;7862124;7907305;7957109;8044845;8140422;8152812;8234276;8281153;8325954;8327496;8332913;8384717;8387275;8413215;8413306;8550590;8599092;8601309;8617720;8626374;8643605;8662591;8662795;8670417;8688489;8706131;8706692;8770873;8837778;8884985;8921937;8939459;8970730;8972730;8999548;9008162;9023774;9056676;9065481;9121587;9135156;9150141;9252186;9315679;9346238;9346484;9362451;9371760;9430229;9454824;9520446;9660950;9687533;9689078;9721103;9734360;9751059;9792644;9836620;9859996;9865693;9914500;9989503;9990852;9990853", "class_list": "", "function": "NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The heterodimeric RELA-NFKB1 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. The NF-kappa-B heterodimeric RELA-NFKB1 and RELA-REL complexes, for instance, function as transcriptional activators. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. The inhibitory effect of I-kappa-B on NF-kappa-B through retention in the cytoplasm is exerted primarily through the interaction with RELA. RELA shows a weak DNA-binding site which could contribute directly to DNA binding in the NF-kappa-B complex. Besides its activity as a direct transcriptional activator, it is also able to modulate promoters accessibility to transcription factors and thereby indirectly regulate gene expression. Associates with chromatin at the NF-kappa-B promoter region via association with DDX1. Essential for cytokine gene expression in T-cells (PubMed:15790681). The NF-kappa-B homodimeric RELA-RELA complex appears to be involved in invasin-mediated activation of IL-8 expression. Key transcription factor regulating the IFN response during SARS-CoV-2 infection (PubMed:33440148)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcription of specific genes. NF-kappa-B is composed of NFKB1 or NFKB2 bound to either REL, RELA, or RELB. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]; P65 signaling dynamics drive the developmental progression of hematopoietic stem and progenitor cells through cell cycle regulation. Publication Status: Online-Only, [RefSeq, PubMed]; Role of Inflammation and the NF-kappaB Signaling Pathway in Hirschsprung's Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Unconventional p65/p52 NF-kappaB module regulates key tumor microenvironment-related genes in breast tumor-associated macrophages (TAMs)., [RefSeq, PubMed]; Vangl2 suppresses NF-kappaB signaling and ameliorates sepsis by targeting p65 for NDP52-mediated autophagic degradation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 6, "mined_n_glycosites": 0, "mined_o_glycosites": 6, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 45, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 2, "disease_count": 36, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q6GTV1;Q6SLK1", "ec_number_list": "", "go_molecular_function": "GO:0042301 phosphate ion binding;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0070431 nucleotide-binding oligomerization domain containing 2 signaling pathway;GO:1904385 cellular response to angiotensin;GO:0070498 interleukin-1-mediated signaling pathway;GO:1904996 positive regulation of leukocyte adhesion to vascular endothelial cell;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 86.9, "record_id": "Q04206-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01889-1", "uniprot_id": "HLAB_HUMAN", "mass": 40460.0, "length": 362, "protein_name": "HLA class I histocompatibility antigen, B alpha chain", "gene_name": "HLA-B", "organism": "Human", "refseq_name": "major histocompatibility complex, class I, B precursor", "refseq_ac": "NP_005505", "gene_names_uniprotkb": "HLA-B; HLAB", "gene_names_refseq": "AS; B-4901; HLA-B; HLAB", "protein_names_uniprotkb": "HLA class I histocompatibility antigen, B alpha chain; HLA-B; Human leukocyte antigen B", "protein_names_refseq": "HLA class I antigen HLA-B; HLA class I histocompatibility antigen, B alpha chain; MHC HLA-B cell surface glycoprotein; MHC HLA-B transmembrane glycoprotein; MHC class 1 antigen; MHC class I antigen HLA-B alpha chain; MHC class I antigen HLA-B heavy chain; MHC class I antigen SHCHA; MHC class I molecule; leukocyte antigen class I-B; major histocompatibility complex, class I, B precursor", "tax_id": 9606, "disease": "Stevens-Johnson syndrome (Disease Ontology:DOID:0050426); colitis (Disease Ontology:DOID:0060180); Cytomegalovirus retinitis (Disease Ontology:DOID:0080160); COVID-19 (Disease Ontology:DOID:0080600); ankylosing spondylitis 1 (Disease Ontology:DOID:0080603); erythema nodosum (Disease Ontology:DOID:0080750); occupational asthma (Disease Ontology:DOID:0080820); graft-versus-host disease (Disease Ontology:DOID:0081267); birdshot chorioretinopathy (Disease Ontology:DOID:0111079); sensorineural hearing loss (Disease Ontology:DOID:10003); spondyloarthropathy (Disease Ontology:DOID:1123); trachoma (Disease Ontology:DOID:11265); sarcoidosis (Disease Ontology:DOID:11335); retinal vasculitis (Disease Ontology:DOID:11563); otosclerosis (Disease Ontology:DOID:12185); Graves' disease (Disease Ontology:DOID:12361); retinopathy of prematurity (Disease Ontology:DOID:13025); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); anterior uveitis (Disease Ontology:DOID:1407); Takayasu's arteritis (Disease Ontology:DOID:2508); synovitis (Disease Ontology:DOID:2703); dermatitis (Disease Ontology:DOID:2723); asthma (Disease Ontology:DOID:2841); severe acute respiratory syndrome (Disease Ontology:DOID:2945); cerebral infarction (Disease Ontology:DOID:3526); acute retinal necrosis syndrome (Disease Ontology:DOID:3611); thrombophlebitis (Disease Ontology:DOID:3875); tuberculosis (Disease Ontology:DOID:399); cervical cancer (Disease Ontology:DOID:4362); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); uveal melanoma (Disease Ontology:DOID:6039); reactive arthritis (Disease Ontology:DOID:6196); myositis (Disease Ontology:DOID:633); ankylosing spondylitis (Disease Ontology:DOID:7147); diabetic retinopathy (Disease Ontology:DOID:8947); allergic asthma (Disease Ontology:DOID:9415); Meniere's disease (Disease Ontology:DOID:9849); alopecia (Disease Ontology:DOID:987); mitral valve prolapse (Disease Ontology:DOID:988)", "pathway": " (hsa:3106); (R-HSA-1236974); (R-HSA-1236977); (R-HSA-198933); (R-HSA-2172127); (R-HSA-6798695); (R-HSA-877300); (R-HSA-909733); (R-HSA-9705671); (R-HSA-983170)", "pathway_count": 10, "publication_count": 480, "publication_id_list": "10049942;10064069;10067896;10395103;10395669;10449773;10468607;10499918;10542297;10600378;10604985;10746781;10777614;10825291;10940905;10982397;10982844;10986460;11092454;11160214;11163199;11237011;11247303;11265639;11337497;11377645;11390610;11404376;11489943;11513152;11514579;11556966;11585831;11602640;11782012;11807247;11857637;11858820;11861603;11888582;11955593;11955595;11955599;11964295;11972023;12019269;12029096;12040185;12213321;12366779;12391225;12436109;12436110;12438563;12446674;12483297;12588680;12622774;12645939;12668644;12692549;12759408;12766484;12776204;12842042;12915721;1317015;1362296;1385528;1396683;1431115;14586410;14681859;14707061;14718384;14719373;14722222;14769151;1481202;14970179;14978097;15034010;15047845;15057820;1508672;15113903;15118850;15136729;15143187;15155468;15187158;15208624;15265913;15286279;15304001;15312780;15322115;15388922;15449939;15530433;15534202;15541655;15557162;15580655;15603872;15607800;15657948;15778442;15778510;15781451;15800062;15851719;15864273;15884055;15927284;15940674;16009940;16014749;16091383;16129954;16171819;16237089;16339513;16380601;16465444;16467876;16473882;16551255;16623599;16737824;16754721;16893496;16904340;1691230;16920917;16928187;16933987;16987978;1699887;17012248;17045824;17056546;17057332;17057721;17088086;17110943;17125875;17202323;17237375;17251285;17251292;1730654;17316621;17337780;17351669;1737933;17483134;17641029;17656363;17969444;18031695;18035202;18037897;18055229;18209062;18234675;18268517;18362138;18385228;18507432;18575461;18591661;18593354;18624290;18629938;18692471;18802471;18991276;19119025;19139562;19149696;19159218;19193869;19217269;1922338;19261456;19342655;19359216;19361863;19426129;19498108;19575639;19592130;19615748;19748539;19851281;19858347;19918052;20049711;20093094;20130243;20166139;20304997;20356336;20363976;2038058;20605430;20616766;20643137;20730098;20865034;20890284;21050182;21241660;21585707;21800138;21841309;21868630;21877119;22020283;2211721;22153078;22286218;22396535;2251138;22941947;23061660;23090970;23121362;2320591;23209413;23291587;23328677;23613522;23650620;23695528;23749632;23929856;24190977;24305946;2437025;24417533;2450918;24600035;24715725;25083866;25371710;25469497;25480565;25505266;25703557;25716998;25808313;26154972;26284469;26300885;26416272;2714852;2715640;27397612;27846572;27862975;2788131;28510447;28514659;28650991;28904123;29493099;29531227;29557506;29741879;2995352;3011411;30444036;30459171;30484775;30485383;3081631;31844290;31850239;32032529;32113509;32157095;32162841;32350084;32353859;32357974;32387766;32428392;32488085;32502341;32511913;32574262;3257938;32589897;32661006;32726803;32728199;32758689;32862111;32887977;32897882;32938616;32953130;32979938;32983136;33024073;33043033;33060197;33091337;33097660;33110251;33117408;33141586;33189161;33193462;33239784;33298915;33349665;33360543;33372174;33372854;33392160;33396578;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33633747;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33989516;33990585;34021074;34054808;34078123;34084167;34087483;34110168;34166398;34171305;34185709;34211107;34228645;34239064;34290717;34341353;34357683;34375313;34400613;34405274;34433824;34439781;34452305;34471099;34502139;34509645;34597346;3489755;34932366;35051231;35102342;35154160;35251023;35318648;35561310;35580925;35643212;36010968;36215666;36241641;36284347;37051252;37074911;37264229;37471146;37938771;38665916;38728374;38783377;38809622;38923829;39075611;40307207;40914422;518865;6162102;6304688;6430898;6548414;688397;7510216;7514165;7517584;7517915;7521976;7524186;7526154;7530745;7531291;7537377;7540766;7542404;7558929;7604034;7615558;7617032;7642652;7657660;7673114;7690989;7725307;7743181;7796299;7876241;7886788;7957552;8156998;8176225;8178173;8197134;8232552;8342042;8360479;8362411;8420828;8423049;8483949;8530158;8547229;8550631;8605876;8621447;8631301;8692836;8702790;8740766;8773315;8814259;8847228;8851728;8879234;8921967;8995416;9036970;9096384;9111318;9121453;9143706;9199974;9242679;9285412;9314561;9334213;9365095;9490415;9605141;9620674;9625766;9655483;9660177;9700512;9730896;9847332;9861020", "class_list": "", "function": "Allele B*07:02: Displays peptides sharing a common signature motif, namely a Pro residue at position 2 and mainly a Leu anchor residue at the C-terminus (PubMed:7743181). Presents a long peptide (APRGPHGGAASGL) derived from the cancer-testis antigen CTAG1A/NY-ESO-1, eliciting a polyclonal CD8-positive T cell response against tumor cells (PubMed:29531227). Presents viral epitopes derived from HIV-1 gag-pol (TPQDLNTML) and Nef (RPQVPLRPM) (PubMed:25808313). Presents an immunodominant epitope derived from SARS-CoV-2 N/nucleoprotein (SPRWYFYYL) (PubMed:32887977). Displays self-peptides including a peptide derived from the signal sequence of HLA-DPB1 (APRTVALTA) (PubMed:7743181)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Allele B*08:01: Presents to CD8-positive T cells viral epitopes derived from EBV/HHV-4 EBNA3 (QAKWRLQTL), eliciting cytotoxic T cell response., [UniProtKB, PubMed]; Allele B*13:02: Presents multiple HIV-1 epitopes derived from gag (RQANFLGKI, GQMREPRGSDI), nef (RQDILDLWI), gag-pol (RQYDQILIE, GQGQWTYQI) and rev (LQLPPLERL), all having in common a Gln residue at position 2 and mainly hydrophobic amino acids Leu, Ile or Val at the C-terminus. Associated with successful control of HIV-1 infection., [UniProtKB, PubMed]; Allele B*18:01: Preferentially presents octameric and nonameric peptides sharing a common motif, namely a Glu at position 2 and Phe or Tyr anchor residues at the C-terminus (PubMed:14978097, PubMed:18991276, PubMed:23749632). Presents an EBV/HHV-4 epitope derived from BZLF1 (SELEIKRY) (PubMed:23749632). May present to CD8-positive T cells an antigenic peptide derived from MAGEA3 (MEVDPIGHLY), triggering an anti-tumor immune response (PubMed:12366779). May display a broad repertoire of self-peptides with a preference for peptides derived from RNA-binding proteins (PubMed:14978097)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Allele B*27:05: Presents to CD8-positive T cells immunodominant viral epitopes derived from HCV POLG (ARMILMTHF), HIV-1 gag (KRWIILGLNK), IAV NP (SRYWAIRTR), SARS-CoV-2 N/nucleoprotein (QRNAPRITF), EBV/HHV-4 EBNA4 (HRCQAIRKK) and EBV/HHV-4 EBNA6 (RRIYDLIEL), conferring longterm protection against viral infection (PubMed:15113903, PubMed:18385228, PubMed:19139562, PubMed:32887977, PubMed:9620674). Can present self-peptides derived from cytosolic and nuclear proteins. All peptides carry an Arg at position 2 (PubMed:1922338). The peptide-bound form interacts with NK cell inhibitory receptor KIR3DL1 and inhibits NK cell activation in a peptide-specific way, being particularly sensitive to the nature of the amino acid side chain at position 8 of the antigenic peptide (PubMed:15657948, PubMed:8879234). KIR3DL1 fails to recognize HLA-B*27:05 in complex with B2M and EBV/HHV-4 EBNA6 (RRIYDLIEL) peptide, which can lead to increased activation of NK cells during infection (PubMed:15657948). May present an altered repertoire of peptides in the absence of TAP1-TAP2 and TAPBPL (PubMed:9620674)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Allele B*40:01: Presents immunodominant viral epitopes derived from EBV/HHV-4 LMP2 (IEDPPFNSL) and SARS-CoV-2 N/nucleoprotein (MEVTPSGTWL), triggering memory CD8-positive T cell response (PubMed:18991276, PubMed:32887977). Displays self-peptides sharing a signature motif, namely a Glu at position 2 and a Leu anchor residue at the C-terminus (PubMed:18991276)., [UniProtKB, PubMed, PubMed]; Allele B*41:01: Displays self-peptides sharing a signature motif, namely a Glu at position 2 and Ala or Pro anchor residues at the C-terminus., [UniProtKB, PubMed]; Allele B*44:02: Presents immunodominant viral epitopes derived from EBV/HHV-4 EBNA4 (VEITPYKPTW) and EBNA6 (AEGGVGWRHW, EENLLDFVRF), triggering memory CD8-positive T cell response (PubMed:18991276, PubMed:9620674). Displays self-peptides sharing a signature motif, namely a Glu at position 2 and Phe, Tyr or Trp anchor residues at the C-terminus (PubMed:18991276)., [UniProtKB, PubMed, PubMed]; Allele B*45:01: Displays self-peptides sharing a signature motif, namely a Glu at position 2 and Ala or Pro anchor residues at the C-terminus., [UniProtKB, PubMed]; Allele B*46:01: Preferentially presents nonameric peptides sharing a signature motif, namely Ala and Leu at position 2 and Tyr, Phe, Leu, or Met anchor residues at the C-terminus. The peptide-bound form interacts with KIR2DL3 and inhibits NK cell cytotoxic response in a peptide-specific way., [UniProtKB, PubMed]; Allele B*47:01: Displays self-peptides sharing a signature motif, namely an Asp at position 2 and Leu or Met anchor residues at the C-terminus., [UniProtKB, PubMed]; Allele B*49:01: Displays self-peptides sharing a signature motif, namely a Glu at position 2 and Ile or Val anchor residues at the C-terminus., [UniProtKB, PubMed]; Allele B*50:01: Displays self-peptides sharing a signature motif, namely a Glu at position 2 and Ala or Pro anchor residues at the C-terminus., [UniProtKB, PubMed]; Allele B*51:01: Presents an octameric HIV-1 epitope derived from gag-pol (TAFTIPSI) to the public TRAV17/TRBV7-3 TCR clonotype, strongly suppressing HIV-1 replication., [UniProtKB, PubMed]; Allele B*54:01: Displays peptides sharing a common signature motif, namely a Pro residue at position 2 and Ala anchor residue at the C-terminus., [UniProtKB, PubMed]; Allele B*55:01: Displays peptides sharing a common signature motif, namely a Pro residue at position 2 and Ala anchor residue at the C-terminus., [UniProtKB, PubMed]; Allele B*56:01: Displays peptides sharing a common signature motif, namely a Pro residue at position 2 and Ala anchor residue at the C-terminus., [UniProtKB, PubMed]; Allele B*57:01: The peptide-bound form recognizes KIR3DL1 and inhibits NK cell cytotoxic response. Presents HIV gag peptides (immunodominant KAFSPEVIPMF and subdominant KALGPAATL epitopes) predominantly to CD8-positive T cell clones expressing a TRAV41-containing TCR, triggering HLA-B-restricted T cell responses., [UniProtKB, PubMed, PubMed, PubMed]; Allele B*67:01: Displays peptides sharing a common signature motif, namely a Pro residue at position 2 and Leu anchor residue at the C-terminus., [UniProtKB, PubMed]; Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-B-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected or transformed cells (PubMed:23209413, PubMed:25808313, PubMed:29531227, PubMed:9620674). May also present self-peptides derived from the signal sequence of secreted or membrane proteins, although T cells specific for these peptides are usually inactivated to prevent autoreactivity (PubMed:18991276, PubMed:7743181). Both the peptide and the MHC molecule are recognized by TCR, the peptide is responsible for the fine specificity of antigen recognition and MHC residues account for the MHC restriction of T cells (PubMed:24600035, PubMed:29531227, PubMed:9620674). Typically presents intracellular peptide antigens of 8 to 13 amino acids that arise from cytosolic proteolysis via constitutive proteasome and IFNG-induced immunoproteasome (PubMed:23209413). Can bind different peptides containing allele-specific binding motifs, which are mainly defined by anchor residues at position 2 and 9 (PubMed:25808313, PubMed:29531227)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Characterisation of the novel HLA-B*38:01:01:18 allele by next-generation sequencing., [RefSeq, PubMed]; Comparative study of two laboratory techniques for the detection of HLA-B27 in patients with axial spondyloarthritis: a cross-sectional analysis. Publication Status: Online-Only, [RefSeq, PubMed]; HLA-B and TIMP1 as hub genes of the ventricular remodeling caused by hypertension., [RefSeq, PubMed]; HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; Human Leukocyte Antigen Alleles (HLA-A, HLA-B, and HLA-DRB1) are associated with Acute Lymphoblastic Leukemia (ALL) : A Case-Control Study in a Sample of Iranian Population. Publication Status: Online-Only, [RefSeq, PubMed]; Human leukocyte antigen HLA-B*57:01 status in HIV-1 patients developing hypersensitivity reactions in Benin: a pilot study. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 21, "disease_count": 40, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0A2I6Q7B5;B0V0B8;G3GN01;O02862;O02956;O02957;O02960;O19555;O19556;O19595;O19615;O19624;O19625;O19627;O19641;O19651;O19675;O19692;O19758;O19779;O19783;O46702;O62897;O62901;O62915;O62917;O62919;O77933;O77959;O78053;O78138;O78160;O78163;O78172;O78173;O78180;O78217;O95730;O98140;P01890;P03989;P10317;P10318;P10319;P10320;P18463;P18464;P18465;P19373;P30460;P30461;P30462;P30463;P30464;P30465;P30466;P30467;P30468;P30469;P30470;P30471;P30472;P30473;P30474;P30475;P30476;P30477;P30478;P30479;P30480;P30481;P30482;P30483;P30484;P30485;P30486;P30487;P30488;P30489;P30490;P30491;P30492;P30493;P30494;P30495;P30496;P30497;P30498;P30513;P30685;P79489;P79490;P79496;P79504;P79523;P79524;P79542;P79555;Q04826;Q08136;Q29633;Q29636;Q29638;Q29661;Q29665;Q29678;Q29679;Q29681;Q29693;Q29695;Q29697;Q29718;Q29742;Q29749;Q29762;Q29764;Q29829;Q29836;Q29842;Q29845;Q29846;Q29847;Q29848;Q29850;Q29851;Q29852;Q29854;Q29855;Q29857;Q29858;Q29861;Q29924;Q29925;Q29933;Q29935;Q29936;Q29940;Q29953;Q29961;Q29982;Q30173;Q30198;Q31603;Q31610;Q31612;Q31613;Q546L8;Q546M4;Q5JP37;Q5QT24;Q5RIP1;Q5SRJ2;Q5TK76;Q5TK77;Q860I4;Q861B5;Q8HWF0;Q8MGQ3;Q8MHN4;Q8SNC5;Q95343;Q95344;Q95365;Q95369;Q95392;Q95HA3;Q95HA8;Q95HM9;Q95IA6;Q95IB8;Q95IH5;Q95J00;Q96IT9;Q9BCM6;Q9BCM7;Q9BCM8;Q9BD06;Q9BD38;Q9BD43;Q9GIL3;Q9GIM3;Q9GIX1;Q9GIY5;Q9GIZ0;Q9GIZ9;Q9GJ00;Q9GJ17;Q9GJ20;Q9GJ23;Q9GJ31;Q9GJF0;Q9GJM7;Q9MX21;Q9MY37;Q9MY42;Q9MY43;Q9MY61;Q9MY75;Q9MY78;Q9MY79;Q9MY84;Q9MY92;Q9MY93;Q9MY94;Q9MYB8;Q9MYC3;Q9MYC7;Q9MYF4;Q9MYG1;Q9TP35;Q9TP36;Q9TP37;Q9TP95;Q9TPQ7;Q9TPQ9;Q9TPR2;Q9TPR4;Q9TPS6;Q9TPT2;Q9TPT4;Q9TPT6;Q9TPV2;Q9TQG1;Q9TQH3;Q9TQH6;Q9TQH7;Q9TQH8;Q9TQH9;Q9TQM2;Q9TQN4;Q9TQN6;Q9UQS8;Q9UQT0", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0051087 protein-folding chaperone binding;GO:0030881 beta-2-microglobulin binding;GO:0042605 peptide antigen binding;GO:0046977 TAP binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib;GO:0002715 regulation of natural killer cell mediated immunity;GO:0006952 defense response;GO:0006955 immune response;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 50.5, "record_id": "P01889-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60941-1", "uniprot_id": "DTNB_HUMAN", "mass": 71356.0, "length": 627, "protein_name": "Dystrobrevin beta", "gene_name": "DTNB", "organism": "Human", "refseq_name": "dystrobrevin beta isoform 6", "refseq_ac": "NP_001243232", "gene_names_uniprotkb": "DTNB", "gene_names_refseq": "DTNB", "protein_names_uniprotkb": "Dystrobrevin beta; Beta-dystrobrevin; DTN-B", "protein_names_refseq": "DTN-B; beta-dystrobrevin; dystrobrevin beta isoform 6", "tax_id": 9606, "disease": "Duchenne muscular dystrophy (Disease Ontology:DOID:11723)", "pathway": " (hsa:1838); (R-HSA-9913351)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10022829;10189375;10441321;10545507;10747910;10893187;10932245;10942431;11237011;11352924;11430802;11495720;12189167;1319059;14759258;15175026;16524571;17610895;17905726;18669648;18764929;19346169;19946898;20044576;22159078;22223806;23186163;23481700;25732826;26992070;27223470;28832583;29242379;29393594;29493099;29508533;29632046;29786170;30315122;30429286;31154438;31844290;32157095;32387766;3282674;32938616;33912179;34087483;34357683;35051231;35246634;35580925;39302247;7527495;7547961;7592992;7844150;7925941;8043271;8268918;8349731;8576247;8607994;8627307;8798547;8845841;9214383;9395493;9405466;9412493;9540997;9652404;9864373", "class_list": "", "function": "Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2., [RefSeq, PubMed]; Scaffolding protein that assembles DMD and SNTA1 molecules to the basal membrane of kidney cells and liver sinusoids (By similarity). May function as a repressor of the SYN1 promoter through the binding of repressor element-1 (RE-1), in turn regulates SYN1 expression and may be involved in cell proliferation regulation during the early phase of neural differentiation (PubMed:27223470). May be required for proper maturation and function of a subset of inhibitory synapses (By similarity)., [UniProtKB, UniProtKB, PubMed]; This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. [provided by RefSeq, Mar 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 17, "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": "B7Z733;F5GZG4;G5E9F6;O43782;O60881;O75538;Q86VR4;Q96AW0;Q9UE14;Q9UE15;Q9UE16", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0030425 dendrite", "go_biological_process": "GO:0030182 neuron differentiation;GO:0043010 camera-type eye development;GO:0099536 synaptic signaling", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "O60941-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYF0-1", "uniprot_id": "DACT1_HUMAN", "mass": 90174.0, "length": 836, "protein_name": "Dapper homolog 1", "gene_name": "DACT1", "organism": "Human", "refseq_name": "dapper homolog 1 isoform 2", "refseq_ac": "NP_001072988", "gene_names_uniprotkb": "DACT1; DPR1; HNG3", "gene_names_refseq": "DACT1; DAPPER1; DAPPER; DPR1; FRODO; HDPR1; TBS2; THYEX3", "protein_names_uniprotkb": "Dapper homolog 1; Dapper antagonist of catenin 1; Hepatocellular carcinoma novel gene 3 protein; hDPR1", "protein_names_refseq": "dapper antagonist of catenin 1; dapper homolog 1 isoform 2; dapper, antagonist of beta-catenin, homolog 1; hepatocellular carcinoma novel gene 3 protein; heptacellular carcinoma novel gene 3", "tax_id": 9606, "disease": "Townes-Brocks syndrome (Disease Ontology:DOID:0050887); neural tube defects, susceptibility to (MONDO:MONDO:0020705); Townes-Brocks syndrome 2 (MONDO:MONDO:0054582)", "pathway": " (hsa:51339); (R-HSA-4641258)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "11237011;11970895;14684739;15580286;16446366;16547521;16959974;17197390;18936100;21262972;21718540;22470507;22610794;25892735;26154972;27600516;28054444;28832583;29242379;29557506;29769354;30379171;30429286;31848261;31978940;32157095;32938616;33141586;33592498;35051231;35121825;35510412;35580925;36066768;36284347;37610179;38253038", "class_list": "", "function": "DACT1 antagonizes Wnt signaling by promoting DVL2 degradation., [RefSeq, PubMed]; Different expression of DACT1, DACT2, and CYCLIN D1 genes in human colorectal cancer tissues and its association with clinicopathological characteristics., [RefSeq, PubMed]; Disheveled binding antagonist of beta-catenin 1 interacted with beta-catenin and connexin 43 in human-induced pluripotent stem cells-derived cardiomyocytes., [RefSeq, PubMed]; Downregulation of HDPR1 is common in hepatic cellular carcinomas, frequently involves hypermethylation of the promoter region., [RefSeq, PubMed]; Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2., [RefSeq, PubMed]; Involved in regulation of intracellular signaling pathways during development. Specifically thought to play a role in canonical and/or non-canonical Wnt signaling pathways through interaction with DSH (Dishevelled) family proteins. The activation/inhibition of Wnt signaling may depend on the phosphorylation status. Proposed to regulate the degradation of CTNNB1/beta-catenin, thereby modulating the transcriptional activation of target genes of the Wnt signaling pathway. Its function in stabilizing CTNNB1 may involve inhibition of GSK3B activity. Promotes the membrane localization of CTNNB1. The cytoplasmic form can induce DVL2 degradation via a lysosome-dependent mechanism; the function is inhibited by PKA-induced binding to 14-3-3 proteins, such as YWHAB. Seems to be involved in morphogenesis at the primitive streak by regulating VANGL2 and DVL2; the function seems to be independent of canonical Wnt signaling and rather involves the non-canonical Wnt/planar cell polarity (PCP) pathway (By similarity). The nuclear form may prevent the formation of LEF1:CTNNB1 complex and recruit HDAC1 to LEF1 at target gene promoters to repress transcription thus antagonizing Wnt signaling. May be involved in positive regulation of fat cell differentiation. During neuronal differentiation may be involved in excitatory synapse organization, and dendrite formation and establishment of spines., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; M(6)A demethylase FTO-mediated downregulation of DACT1 mRNA stability promotes Wnt signaling to facilitate osteosarcoma progression., [RefSeq, PubMed]; The protein encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-binding motif at the C-terminus. It interacts with, and positively regulates dishevelled-mediated signaling pathways during development. Depletion of this mRNA from xenopus embryos resulted in loss of notochord and head structures, and mice lacking this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 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": 3, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 37, "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": "A8MYJ2;Q86TY0", "ec_number_list": "", "go_molecular_function": "GO:0042826 histone deacetylase binding;GO:0005080 protein kinase C binding;GO:0008013 beta-catenin binding;GO:0051018 protein kinase A binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045202 synapse", "go_biological_process": "GO:0048619 embryonic hindgut morphogenesis;GO:1904864 negative regulation of beta-catenin-TCF complex assembly;GO:2000095 regulation of Wnt signaling pathway, planar cell polarity pathway;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0090090 negative regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9NYF0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BPX1-1", "uniprot_id": "DHB14_HUMAN", "mass": 28317.0, "length": 270, "protein_name": "L-fucose dehydrogenase", "gene_name": "HSD17B14", "organism": "Human", "refseq_name": "L-fucose dehydrogenase", "refseq_ac": "NP_057330", "gene_names_uniprotkb": "HSD17B14; DHRS10; PRO474; SDR3; SDR47C1", "gene_names_refseq": "DHRS10; HSD17B14; SDR47C1; retSDR3", "protein_names_uniprotkb": "L-fucose dehydrogenase; 1.1.1.122; 17-beta-hydroxysteroid dehydrogenase DHRS10; Dehydrogenase/reductase SDR family member 10; Retinal short-chain dehydrogenase/reductase retSDR3; Short chain dehydrogenase/reductase family 47C member 1", "protein_names_refseq": "17-beta-HSD 14; 17-beta-hydroxysteroid dehydrogenase 14; 17-beta-hydroxysteroid dehydrogenase DHRS10; L-fucose dehydrogenase; dehydrogenase/reductase (SDR family) member 10; retinal short-chain dehydrogenase/reductase 3; retinal short-chain dehydrogenase/reductase retSDR3; short chain dehydrogenase/reductase family 47C member 1; testicular tissue protein Li 52", "tax_id": 9606, "disease": "", "pathway": " (hsa:51171); (R-HSA-193144)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10800688;11237011;11895893;12404296;12697717;12975309;16332571;17067289;1825337;19027824;2149502;2171939;22792371;25576301;25577493;26230928;27362750;27600516;27846572;27933965;29557506;29859505;30836176;31844290;32157095;32488085;32938616;33298915;33592498;33981976;34087483;34171305;34261756;34405274;38944119;7336466;8076586;8099587;9783542", "class_list": "", "function": "17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]., [RefSeq]; Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes., [RefSeq, PubMed]; Catalyzes the NAD(+)-dependent oxidation of L-fucose, yielding L-fucono-1,5-lactone, which rapidly converts spontaneously to L-fucone-1,4-lactone. Can also act on D-arabinose and L-galactose, with lower catalytic efficiency (PubMed:38944119). Does not use NADPH (PubMed:38944119). May be the initial enzyme of the L-fucose degradation pathway in mammals (PubMed:17067289, PubMed:38944119)., [UniProtKB, PubMed, PubMed]; Crystal structure of the DHRS10 apoenzyme exhibits secondary structure of the SDR (short-chain dehydrogenase/reductase) family Erratum:[Biochem J. 2007 May 1;403(3):615. Kavanagh, Kathryn [Kavanagh, Kathryn L]; Hwa, Lee Wen [corrected to Lee, Wen Hwa]], [RefSeq, PubMed]; Hydroxysteroid 17-beta dehydrogenase 14 (HSD17B14) is an L-fucose dehydrogenase, the initial enzyme of the L-fucose degradation pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9UKU3", "ec_number_list": "1.1.1.122", "go_molecular_function": "GO:0042802 identical protein binding;GO:0047834 D-threo-aldose 1-dehydrogenase activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0008202 steroid metabolic process;GO:0042355 L-fucose catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9BPX1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q68J44-1", "uniprot_id": "DUS29_HUMAN", "mass": 25336.0, "length": 220, "protein_name": "Dual specificity phosphatase 29", "gene_name": "DUSP29", "organism": "Human", "refseq_name": "dual specificity phosphatase 29", "refseq_ac": "NP_001003892", "gene_names_uniprotkb": "DUSP29; DUPD1; DUSP27", "gene_names_refseq": "DUPD1; DUSP27; DUSP29; FMDSP", "protein_names_uniprotkb": "Dual specificity phosphatase 29; 3.1.3.16; 3.1.3.48; Dual specificity phosphatase 27; Dual specificity phosphatase DUPD1", "protein_names_refseq": "atypical dual-specific protein phosphatase; dual specificity phosphatase 27; dual specificity phosphatase 29; dual specificity phosphatase DUPD1; dual specificity phosphatase and pro isomerase domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:338599)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "17498703;21543850;30379171;32639872;35051231;38975693", "class_list": "", "function": "A cytosolic enzyme, expressed in skeletal muscle, liver and adipose tissue, suggesting its possible role in energy metabolism, [RefSeq, PubMed]; Dual specificity phosphatase able to dephosphorylate phosphotyrosine, phosphoserine and phosphothreonine residues within the same substrate, with a preference for phosphotyrosine as a substrate (PubMed:17498703). Involved in the modulation of intracellular signaling cascades. In skeletal muscle regulates systemic glucose homeostasis by activating, AMPK, an energy sensor protein kinase (By similarity). Affects MAP kinase signaling though modulation of the MAPK1/2 cascade in skeletal muscle promoting muscle cell differentiation, development and atrophy (By similarity)., [UniProtKB, PubMed, UniProtKB]; Dual-specificity phosphatase 29 is induced during neurogenic skeletal muscle atrophy and attenuates glucocorticoid receptor activity in muscle cell culture., [RefSeq, PubMed]; Dual-specificity phosphatases 13 and 27 as key switches in muscle stem cell transition from proliferation to differentiation., [RefSeq, PubMed]; Here, the overexpression, purification and structure determination of DUPD1 (also known as DUSP27) at 2.38 A resolution are 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RP93", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;3.1.3.5;3.1.3.2;2.7.10.1;3.1.3.67;3.1.3.53;3.1.3.52;3.1.3.27;3.1.3.86;3.1.3.36;3.1.3.74", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0004722 protein serine/threonine phosphatase activity;GO:0008138 protein tyrosine/serine/threonine phosphatase activity;GO:0033549 MAP kinase phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0042593 glucose homeostasis;GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:0006470 protein dephosphorylation;GO:0042692 muscle cell differentiation;GO:0043409 negative regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q68J44-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P06733-1", "uniprot_id": "ENOA_HUMAN", "mass": 47169.0, "length": 434, "protein_name": "Alpha-enolase", "gene_name": "ENO1", "organism": "Human", "refseq_name": "c-myc promoter-binding protein-1 isoform MBP-1", "refseq_ac": "NP_001188412", "gene_names_uniprotkb": "ENO1; ENO1L1; MBPB1; MPB1", "gene_names_refseq": "ENO1-IT1; ENO1L1; ENO1; HEL-S-17; MPB1; NNE; PPH", "protein_names_uniprotkb": "Alpha-enolase; 2-phospho-D-glycerate hydro-lyase; 4.2.1.11; C-myc promoter-binding protein; Enolase 1; MBP-1; MPB-1; NNE; Non-neural enolase; Phosphopyruvate hydratase; Plasminogen-binding protein", "protein_names_refseq": "2-phospho-D-glycerate hydro-lyase; ENO1 intronic transcript 1 (non-protein coding); ENO1 intronic transcript 1; MYC promoter-binding protein 1; alpha enolase like 1; c-myc promoter-binding protein-1 isoform MBP-1; c-myc promoter-binding protein-1; enolase 1, (alpha); enolase-alpha; epididymis secretory protein Li 17; non-neural enolase; phosphopyruvate hydratase; plasminogen-binding protein; tau-crystallin", "tax_id": 9606, "disease": "developmental cardiac valvular defect (Disease Ontology:DOID:0080633); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); renal cell carcinoma (Disease Ontology:DOID:4450); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:2023); (R-HSA-70171); (R-HSA-70263); (R-HSA-9636667)", "pathway_count": 4, "publication_count": 266, "publication_id_list": "10.1101/2023.09.13.557529;10082554;10229653;10681589;10714828;10802057;11134351;11237011;11371164;11497239;11506403;11780755;11851336;12093795;12297304;12437512;12616532;12666133;1278465;12965206;12965222;13538944;1369209;14718531;14722102;15565337;15592455;15710582;15951569;16139798;16408927;16497976;16511037;16548883;16815975;17016520;17287340;17322306;17804405;17924679;18083107;18337460;183598;18369606;18449899;18510355;18560153;18613815;18669648;1871135;18910716;18910717;18927083;18991276;19118303;19608861;19615748;19651622;19690332;2005901;20068231;20166139;20849415;21081667;21209280;21740066;21908771;21949678;22219026;22322011;22544926;22869377;22905912;23168256;23186163;23328677;23446454;23506893;2373081;24275569;24366607;2462567;24665079;24714562;24715725;24841372;25418920;25469497;25502872;25505266;25576301;25645385;25648650;25802875;25810538;26096821;26154972;26250836;26374642;26758079;26768311;26824387;26853435;26992070;27090790;27452731;27600516;27622074;27726376;27846572;27862975;27895642;27920218;2793178;28218747;28228285;2846554;28467828;28514659;28813417;28832583;28834231;28855257;28871256;28904123;29242379;29314611;29317506;29371260;29393594;29437277;29493099;29508533;29557506;2960695;29632711;29775581;29786170;29789417;29853344;30192525;30315122;30397120;30429286;30459171;30484775;30517626;30524438;30573663;30626607;30779550;30833945;31092671;31138830;31154438;31217245;31222486;31530632;31611695;3170585;31844290;31848261;31998317;3208766;32119511;32157095;32161166;32162841;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33214551;33298915;33392160;3355497;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34357683;34433824;34509645;3453121;34561969;34725712;34782236;34932366;35008409;35051231;35083852;35138101;35154160;35251023;3529090;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37074911;37217939;37340703;37938771;38665916;39147318;39446384;39543641;39990658;40596516;40914422;4413246;4555506;4827367;5009693;5687724;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7573034;7629021;7717389;7787969;7825568;7989588;8117307;8211187;8325892;8447317;8571957;8645161;8786021;8824716;9150948;9308760;9382095;9428641;9438414;9493266;9585002;9653645;9657976;9678974;9758626;9878089", "class_list": "", "function": "ARNTL2 facilitates bladder cancer progression through potentiating ENO1-mediated glycolysis in a SLC31A1-independent and -dependent manner., [RefSeq, PubMed]; Binds to the myc promoter and acts as a transcriptional repressor. May be a tumor suppressor., [UniProtKB, PubMed]; Enolase that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate in glycolysis and the reverse reaction in gluconeogenesis (PubMed:1369209, PubMed:29775581). Also involved in various processes such as growth control, hypoxia tolerance and allergic responses (PubMed:10802057, PubMed:12666133, PubMed:2005901, PubMed:29775581). May also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons (PubMed:12666133). Stimulates immunoglobulin production (PubMed:1369209)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Novel transcript was alternatively transcribed from intron III of the ENO1 gene and was feasible for MBP-1 production, [RefSeq, PubMed]; O-GlcNAcylation of enolase 1 serves as a dual regulator of aerobic glycolysis and immune evasion in colorectal cancer., [RefSeq, PubMed]; Role of ENO1 and its targeted therapy in tumors. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [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": 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": 1, "reported_phosphosites": 12, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 5, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RD59;P22712;Q16704;Q4TUS4;Q53FT9;Q53HR3;Q658M5;Q6GMP2;Q71V37;Q7Z3V6;Q8WU71;Q96GV1;Q9BT62;Q9UCH6;Q9UM55", "ec_number_list": "4.2.1.11", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003723 RNA binding;GO:0042803 protein homodimerization activity;GO:0003714 transcription corepressor activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0010756 positive regulation of plasminogen activation;GO:0045933 positive regulation of muscle contraction;GO:2001171 positive regulation of ATP biosynthetic process;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 27.9, "record_id": "P06733-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P23443-1", "uniprot_id": "KS6B1_HUMAN", "mass": 59140.0, "length": 525, "protein_name": "Ribosomal protein S6 kinase beta-1", "gene_name": "RPS6KB1", "organism": "Human", "refseq_name": "ribosomal protein S6 kinase beta-1 isoform b", "refseq_ac": "NP_001258971", "gene_names_uniprotkb": "RPS6KB1; STK14A", "gene_names_refseq": "PS6K; RPS6KB1; S6K-beta-1; S6K1; S6K; STK14A; p70 S6KA; p70(S6K)-alpha; p70-S6K; p70-alpha", "protein_names_uniprotkb": "Ribosomal protein S6 kinase beta-1; 2.7.11.1; 70 kDa ribosomal protein S6 kinase 1; P70S6K1; Ribosomal protein S6 kinase I; S6K-beta-1; S6K1; Serine/threonine-protein kinase 14A; p70 S6 kinase alpha; p70 S6K-alpha; p70 S6KA; p70 ribosomal S6 kinase alpha; p70-S6K 1", "protein_names_refseq": "ribosomal protein S6 kinase I; ribosomal protein S6 kinase beta-1 isoform b; ribosomal protein S6 kinase beta-1; ribosomal protein S6 kinase, 70kDa, polypeptide 1; serine/threonine kinase 14 alpha; serine/threonine-protein kinase 14A", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); primary biliary cholangitis (Disease Ontology:DOID:12236); dilated cardiomyopathy (Disease Ontology:DOID:12930); hyperinsulinism (Disease Ontology:DOID:2018); colon cancer (Disease Ontology:DOID:219); glucose metabolism disease (Disease Ontology:DOID:4194); myocardial infarction (Disease Ontology:DOID:5844); muscular atrophy (Disease Ontology:DOID:767); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6198)", "pathway_count": 1, "publication_count": 116, "publication_id_list": "10567431;10579915;10601311;11200472;11237011;11279232;11500364;11516946;11705993;11914378;12150926;12558800;12586835;12589797;12604610;12801526;14673156;14967450;15071500;15341740;15774499;15899889;16286006;16899564;16959974;16964243;17052453;17053147;17220300;17344846;17446865;17936702;18092230;18669648;18925875;18952604;19085255;1922062;19342653;19487463;19570988;19651622;19690332;19720745;19864428;19935711;19995915;20068231;20932932;21035469;22017876;23119004;23186163;23273915;23429703;23481700;23830390;24605337;24715725;25486532;25576301;25645385;26154972;26375851;26496226;26698305;26992070;27600516;27846572;27862975;27920218;28178239;28649982;28832583;28834231;28904123;29236692;29242379;29393594;29557506;29632711;29750193;29786170;30429286;30784271;31217245;31844290;32157095;32265295;32387766;32488085;32502341;32601203;33141586;33298915;33912179;33936100;33968037;34087483;34171305;34561969;34932366;35051231;35580925;36010968;36241641;36284347;37938771;38253038;39236462;7545671;9271440;9427642;9445476;9465032;9804755", "class_list": "", "function": "Alternative splicing of S6K1 acts as a molecular switch in breast cancer cells, elevating oncogenic isoforms that activate mTORC1., [RefSeq, PubMed]; Dysregulation of S6 kinases contributes to the pathogenesis of human diseases. Review article, [RefSeq, PubMed]; Lactate-upregulated ARG2 expression induces cellular senescence in fibroblast-like synoviocytes of osteoarthritis via activating the mTOR/S6K1 signaling pathway., [RefSeq, PubMed]; Serine/threonine-protein kinase that acts downstream of mTOR signaling in response to growth factors and nutrients to promote cell proliferation, cell growth and cell cycle progression (PubMed:11500364, PubMed:12801526, PubMed:14673156, PubMed:15071500, PubMed:15341740, PubMed:16286006, PubMed:17052453, PubMed:17053147, PubMed:17936702, PubMed:18952604, PubMed:19085255, PubMed:19720745, PubMed:19935711, PubMed:19995915, PubMed:22017876, PubMed:23429703, PubMed:28178239). Regulates protein synthesis through phosphorylation of EIF4B, RPS6 and EEF2K, and contributes to cell survival by repressing the pro-apoptotic function of BAD (PubMed:11500364, PubMed:12801526, PubMed:14673156, PubMed:15071500, PubMed:15341740, PubMed:16286006, PubMed:17052453, PubMed:17053147, PubMed:17936702, PubMed:18952604, PubMed:19085255, PubMed:19720745, PubMed:19935711, PubMed:19995915, PubMed:22017876, PubMed:23429703, PubMed:28178239). Under conditions of nutrient depletion, the inactive form associates with the EIF3 translation initiation complex (PubMed:16286006). Upon mitogenic stimulation, phosphorylation by the mechanistic target of rapamycin complex 1 (mTORC1) leads to dissociation from the EIF3 complex and activation (PubMed:16286006). The active form then phosphorylates and activates several substrates in the pre-initiation complex, including the EIF2B complex and the cap-binding complex component EIF4B (PubMed:16286006). Also controls translation initiation by phosphorylating a negative regulator of EIF4A, PDCD4, targeting it for ubiquitination and subsequent proteolysis (PubMed:17053147). Promotes initiation of the pioneer round of protein synthesis by phosphorylating POLDIP3/SKAR (PubMed:15341740). In response to IGF1, activates translation elongation by phosphorylating EEF2 kinase (EEF2K), which leads to its inhibition and thus activation of EEF2 (PubMed:11500364). Also plays a role in feedback regulation of mTORC2 by mTORC1 by phosphorylating MAPKAP1/SIN1, MTOR and RICTOR, resulting in the inhibition of mTORC2 and AKT1 signaling (PubMed:15899889, PubMed:19720745, PubMed:19935711, PubMed:19995915). Also involved in feedback regulation of mTORC1 and mTORC2 by phosphorylating DEPTOR (PubMed:22017876). Mediates cell survival by phosphorylating the pro-apoptotic protein BAD and suppressing its pro-apoptotic function (By similarity). Phosphorylates mitochondrial URI1 leading to dissociation of a URI1-PPP1CC complex (PubMed:17936702). The free mitochondrial PPP1CC can then dephosphorylate RPS6KB1 at Thr-412, which is proposed to be a negative feedback mechanism for the RPS6KB1 anti-apoptotic function (PubMed:17936702). Mediates TNF-induced insulin resistance by phosphorylating IRS1 at multiple serine residues, resulting in accelerated degradation of IRS1 (PubMed:18952604). In cells lacking functional TSC1-2 complex, constitutively phosphorylates and inhibits GSK3B (PubMed:17052453). May be involved in cytoskeletal rearrangement through binding to neurabin (By similarity). Phosphorylates and activates the pyrimidine biosynthesis enzyme CAD, downstream of MTOR (PubMed:23429703). Following activation by mTORC1, phosphorylates EPRS and thereby plays a key role in fatty acid uptake by adipocytes and also most probably in interferon-gamma-induced translation inhibition (PubMed:28178239)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [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": 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": 31, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R779;B4DLT4;B4DTG1;E7ESB8;F6UYM1;Q7Z721", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004712 protein serine/threonine/tyrosine kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0031670 cellular response to nutrient;GO:0007165 signal transduction;GO:0032869 cellular response to insulin stimulus", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "P23443-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07476-1", "uniprot_id": "INVO_HUMAN", "mass": 68479.0, "length": 585, "protein_name": "Involucrin", "gene_name": "IVL", "organism": "Human", "refseq_name": "involucrin", "refseq_ac": "NP_005538", "gene_names_uniprotkb": "IVL", "gene_names_refseq": "IVL", "protein_names_uniprotkb": "Involucrin", "protein_names_refseq": "involucrin", "tax_id": 9606, "disease": "", "pathway": " (hsa:3713); (R-HSA-6809371); (R-HSA-9725554)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12067728;12624109;12902340;15033990;15140226;15147942;15234001;15337775;15556625;15675955;15780751;15797384;15803139;1601889;16061697;16297201;16639001;17330888;17515931;17562024;17596512;18843291;19190773;19194479;19924134;20179351;20657595;20667819;20940292;21439340;21654840;21997417;22735594;23283814;23599428;23629652;24252747;24515279;2461365;24794495;25926655;26340985;26375851;26390218;2873896;29508533;30524438;30905808;31154438;31399284;32751111;34105348;34561969;35051231;35580925;36010968;7543090;8824274;8999895;9115270;9395522;9565599;9651377", "class_list": "", "function": "Involucrin is up-regulated in psoriatic keratinocytes, [RefSeq, PubMed]; Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin. [provided by RefSeq, Jul 2008]., [RefSeq]; KLF4 is part of a multiprotein complex that interacts that the hINV promoter distal regulatory region to drive differentiation-dependent hINV gene expression in epidermis., [RefSeq, PubMed]; Over-expression of Nnat was evident along with involucrin and cytokeratin1 expression, [RefSeq, PubMed]; Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia., [UniProtKB]; Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic Dermatitis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Together, these results suggest that GR modulates involucrin expression of keratinocytes by regulating the intracellular signaling network in a ligand-independent manner., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 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": "Q5T7P4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0001533 cornified envelope", "go_biological_process": "GO:0018153 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine;GO:0031424 keratinization;GO:0030216 keratinocyte differentiation;GO:0018149 peptide cross-linking;GO:0010224 response to UV-B", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "P07476-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DMV8-1", "uniprot_id": "HS71A_HUMAN", "mass": 70052.0, "length": 641, "protein_name": "Heat shock 70 kDa protein 1A", "gene_name": "HSPA1A", "organism": "Human", "refseq_name": "heat shock 70 kDa protein 1A", "refseq_ac": "NP_005336", "gene_names_uniprotkb": "HSPA1A; HSP72; HSPA1; HSX70", "gene_names_refseq": "HEL-S-103; HSP70-1A; HSP70-1; HSP70-2; HSP70.1; HSP70.2; HSP70I; HSP70; HSP72; HSPA1A; HSPA1", "protein_names_uniprotkb": "Heat shock 70 kDa protein 1A; HSP70-1; HSP70.1; Heat shock 70 kDa protein 1; Heat shock protein family A member 1A", "protein_names_refseq": "HSP70-1/HSP70-2; HSP70.1/HSP70.2; Heat shock 70 kDa protein 1B; Heat shock 70 kDa protein 2; dnaK-type molecular chaperone HSP70-1; epididymis secretory protein Li 103; epididymis secretory sperm binding protein; heat shock 70 kDa protein 1/2; heat shock 70 kDa protein 1A/1B; heat shock 70 kDa protein 1A; heat shock 70 kDa protein 1; heat shock 70kD protein 1A; heat shock 70kDa protein 1A; heat shock protein family A member 1A; heat shock-induced protein", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); lymphoma (Disease Ontology:DOID:0060058); Parkinsonism (Disease Ontology:DOID:0080855); graft-versus-host disease (Disease Ontology:DOID:0081267); Alzheimer's disease (Disease Ontology:DOID:10652); urinary bladder cancer (Disease Ontology:DOID:11054); paranoid schizophrenia (Disease Ontology:DOID:1229); vitiligo (Disease Ontology:DOID:12306); cardiovascular system disease (Disease Ontology:DOID:1287); Kawasaki disease (Disease Ontology:DOID:13378); major depressive disorder (Disease Ontology:DOID:1470); cystic fibrosis (Disease Ontology:DOID:1485); status epilepticus (Disease Ontology:DOID:1824); atherosclerosis (Disease Ontology:DOID:1936); schizophrenia (Disease Ontology:DOID:5419); vascular dementia (Disease Ontology:DOID:8725); systemic lupus erythematosus (Disease Ontology:DOID:9074); systolic heart failure (Disease Ontology:DOID:9651); Meniere's disease (Disease Ontology:DOID:9849)", "pathway": " (hsa:3303); (hsa:3304); (R-HSA-168330); (R-HSA-3371453); (R-HSA-3371497); (R-HSA-3371568); (R-HSA-3371571); (R-HSA-450408); (R-HSA-6798695); (R-HSA-9833482); (R-HSA-9841251); (R-HSA-9918487)", "pathway_count": 12, "publication_count": 373, "publication_id_list": "10.1101/2023.09.13.557529;10082513;10205060;10216320;10348343;10400669;10559216;10620360;10626894;10648614;10747884;10848580;10866685;10954706;11096080;11134010;11139588;11152499;11156368;11222100;11237011;11238103;11238927;11274138;11278865;11313968;11337501;11350938;11438540;11447121;11500375;11583998;11589254;11701661;11747420;11751894;11781817;11842200;11909525;11939789;11985496;12136087;12231563;12397061;12781197;12791317;12819195;12853476;12882984;12917326;12974469;13486053;1373135;14503850;14585331;14656967;1493716;15158436;15159550;15229216;15257295;15270074;15299030;15364926;15381148;15383005;15591061;15737233;15752359;15760475;15802566;1586970;15907845;15963462;1607379;16179258;16179259;16278218;1628823;16373505;16403413;16431927;16537599;16556936;16600570;16717090;1695551;16964243;16982605;1700760;17079286;17081983;17182002;17196820;17216044;17233114;17287340;17289661;1754405;17591767;17804755;17947705;18096616;18215318;18235501;18235502;18243712;18254226;18452278;18550409;18573886;18620420;18635947;18691976;18835251;18957415;19229036;19229320;19359544;19413330;19416861;19608861;19651622;19710021;19733181;19804757;19838063;19914676;20006655;20038533;20053985;20068231;20072699;20112406;20179333;20223214;20305658;20395957;20519500;20661758;20685959;21072047;21081504;21123651;21158691;21183720;21294215;21376746;21518807;21608060;21636578;21700222;21796517;21937648;21978664;21994559;22011577;22214662;22266222;22318716;22433123;22465953;2247437;22528486;22541429;22735644;22768106;22791416;22905912;22940245;22967762;22986343;23084476;23229543;23271734;23349634;23349863;23650620;23665396;23732991;23921388;23973223;24012426;24129315;24270810;24318877;24347309;24613385;24623135;24659800;24694367;24753571;24790089;25281747;2538825;25502872;25645385;25653431;25848059;26073023;26203193;26313416;26375851;26432638;26446704;26488609;26716879;26735137;26817845;26853435;26865365;27133716;27137183;27208315;27269119;27423063;27426517;27462449;27566657;27600516;27663436;27708256;27726376;27884606;27974558;28069888;28083797;28167698;28281686;28301631;28446606;28514659;28755533;28765891;28832583;28834231;28842558;28919297;29117567;29170442;29175459;29231267;29242379;29314611;29348664;29393594;29394925;29395325;29440070;29501855;29557506;29632711;29741879;29786170;29789417;30174290;30192525;30197098;30315122;30397120;30524438;30573663;30626607;30770398;31031002;31110491;31141847;31611695;31731497;31826031;31844290;32016915;32093270;32157095;32219501;32302062;32320027;32350084;32357974;32387766;32448030;32488085;32502341;32544881;32716602;32801355;32890404;32897882;32938616;32982970;32983136;33141586;33537174;33691108;33808629;33911136;33968037;34078123;34174402;34185709;34211107;34357683;34509645;34696522;34932366;34974812;35051231;35154160;35251023;35318648;35459695;35561310;35580925;35585045;35685460;35874702;35947956;36010968;36215666;36241641;36284347;36712380;37127961;37298493;37525035;3786141;37926404;38177122;38665916;38703814;39000042;3931075;6645495;6891012;7491766;7515177;7545299;7565688;7585962;7693978;7737357;7903669;7935376;8157723;8282004;8455624;8560673;8576172;8576179;8661426;8692836;8721986;8810342;8910500;8946918;9034343;9079663;9222609;9305631;9442054;9464360;9464361;9499401;9521856;9528799;9649501;9667968;9687506;9737981;9819388;9873016;9920933;9973436", "class_list": "", "function": "(Microbial infection) In case of rotavirus A infection, serves as a post-attachment receptor for the virus to facilitate entry into the cell., [UniProtKB, PubMed]; A Genomic Study of the Japanese Population Focusing on the Glucocorticoid Receptor Interactome Highlights Distinct Genetic Characteristics Associated with Stress Response., [RefSeq, PubMed]; Association of elevated extracellular HSP72 in albuminuria with systemic inflammation and disease progression in type 2 diabetic kidney disease., [RefSeq, PubMed]; Exploring the Roles of Key Mediators IKBKE and HSPA1A in Alzheimer's Disease and Hepatocellular Carcinoma through Bioinformatics Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Heat Shock Protein 70 Is Involved in the Efficiency of Preconditioning with Cyclosporine A in Renal Ischemia Reperfusion Injury by Modulating Mitochondrial Functions. Publication Status: Online-Only, [RefSeq, PubMed]; Heat shock protein 72 supports extracellular matrix production in metastatic mammary tumors., [RefSeq, PubMed]; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The co-chaperones have been shown to not only regulate different steps of the ATPase cycle, but they also have an individual specificity such that one co-chaperone may promote folding of a substrate while another may promote degradation. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release. The co-chaperones are of three types: J-domain co-chaperones such as HSP40s (stimulate ATPase hydrolysis by HSP70), the nucleotide exchange factors (NEF) such as BAG1/2/3 (facilitate conversion of HSP70 from the ADP-bound to the ATP-bound state thereby promoting substrate release), and the TPR domain chaperones such as HOPX and STUB1 (PubMed:24012426, PubMed:24318877, PubMed:26865365). Maintains protein homeostasis during cellular stress through two opposing mechanisms: protein refolding and degradation. Its acetylation/deacetylation state determines whether it functions in protein refolding or protein degradation by controlling the competitive binding of co-chaperones HOPX and STUB1. During the early stress response, the acetylated form binds to HOPX which assists in chaperone-mediated protein refolding, thereafter, it is deacetylated and binds to ubiquitin ligase STUB1 that promotes ubiquitin-mediated protein degradation (PubMed:27708256). Regulates centrosome integrity during mitosis, and is required for the maintenance of a functional mitotic centrosome that supports the assembly of a bipolar mitotic spindle (PubMed:27137183). Enhances STUB1-mediated SMAD3 ubiquitination and degradation and facilitates STUB1-mediated inhibition of TGF-beta signaling (PubMed:24613385). Essential for STUB1-mediated ubiquitination and degradation of FOXP3 in regulatory T-cells (Treg) during inflammation (PubMed:23973223). Required as a co-chaperone for optimal STUB1/CHIP ubiquitination of NFATC3 (By similarity). Negatively regulates heat shock-induced HSF1 transcriptional activity during the attenuation and recovery phase period of the heat shock response (PubMed:9499401). Involved in the clearance of misfolded PRDM1/Blimp-1 proteins. Sequesters them in the cytoplasm and promotes their association with SYNV1/HRD1, leading to proteasomal degradation (PubMed:28842558)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 19, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4E3B6;P08107;P19790;Q5JQI4;Q5SP17;Q9UQL9;Q9UQM0", "ec_number_list": "", "go_molecular_function": "GO:0031249 denatured protein binding;GO:0055131 C3HC4-type RING finger domain binding;GO:0003723 RNA binding;GO:0005102 signaling receptor binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0090084 negative regulation of inclusion body assembly;GO:0033120 positive regulation of RNA splicing;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", "synthesized_glycan_count": 0, "hit_score": 37.9, "record_id": "P0DMV8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00410-1", "uniprot_id": "IPO5_HUMAN", "mass": 123630.0, "length": 1097, "protein_name": "Importin-5", "gene_name": "IPO5", "organism": "Human", "refseq_name": "importin-5 isoform X1", "refseq_ac": "XP_005254109", "gene_names_uniprotkb": "IPO5; KPNB3; RANBP5", "gene_names_refseq": "IMB3; IPO5; KPNB3; Pse1; RANBP5; imp5", "protein_names_uniprotkb": "Importin-5; Imp5; Importin subunit beta-3; Karyopherin beta-3; Ran-binding protein 5; RanBP5", "protein_names_refseq": "importin-5 isoform X1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:3843); (R-HSA-192905)", "pathway_count": 2, "publication_count": 114, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11483758;11682607;16704975;17081983;18669648;18691976;19690332;20068231;21654843;22223895;22299025;22706990;22730302;22967762;23186163;23301498;23481700;23541588;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26853435;26992070;27600516;27846572;27920218;28121444;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29317506;29331515;29393594;29437277;29475951;29508533;29557506;29632711;29769354;29786170;3023071;30315122;30379171;30410026;30779550;31020640;31217245;31844290;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34509645;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35561310;35580925;36010968;36215666;36241641;36284347;36581221;3783823;37938771;38665916;39534244;40914422;8948635;9114010;9271386;9687515", "class_list": "", "function": "Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5 (PubMed:11682607, PubMed:9687515). In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. Binds to CPEB3 and mediates its nuclear import following neuronal stimulation (By similarity). In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev., [UniProtKB, PubMed, UniProtKB, PubMed]; May function in nuclear protein import as nuclear transport receptor., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DZA0;O15257;Q5T578;Q86XC7", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0005095 GTPase inhibitor activity;GO:0031267 small GTPase binding;GO:0008139 nuclear localization sequence binding;GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0006610 ribosomal protein import into nucleus;GO:0045786 negative regulation of cell cycle;GO:0071230 cellular response to amino acid stimulus;GO:0006607 NLS-bearing protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "O00410-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43629-1", "uniprot_id": "KI3L1_HUMAN", "mass": 49098.0, "length": 444, "protein_name": "Killer cell immunoglobulin-like receptor 3DL1", "gene_name": "KIR3DL1", "organism": "Human", "refseq_name": "killer cell immunoglobulin-like receptor 3DL1 isoform 2 precursor", "refseq_ac": "NP_001309097", "gene_names_uniprotkb": "KIR3DL1; CD158E; NKAT3; NKB1", "gene_names_refseq": "CD158E1; KIR3DL1/S1; KIR3DL1; KIR; NKAT-3; NKAT3; NKB1B; NKB1", "protein_names_uniprotkb": "Killer cell immunoglobulin-like receptor 3DL1; CD158 antigen-like family member E; HLA-BW4-specific inhibitory NK cell receptor; NKAT-3; Natural killer-associated transcript 3; p70 NK receptor CL-2/CL-11; p70 natural killer cell receptor clones CL-2/CL-11", "protein_names_refseq": "CD158 antigen-like family member E; HLA-BW4-specific inhibitory NK cell receptor; KIR antigen 3DL1; killer cell immunoglobulin-like receptor 3DL1 isoform 2 precursor; killer cell immunoglobulin-like receptor 3DL1; killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1; natural killer-associated transcript 3; p70 NK receptor CL-2/CL-11; p70 killer cell inhibitory receptor; p70 natural killer cell receptor clones CL-2/CL-11", "tax_id": 9606, "disease": "malaria (Disease Ontology:DOID:12365); hepatitis C (Disease Ontology:DOID:1883); tuberculosis (Disease Ontology:DOID:399); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526)", "pathway": " (hsa:3811); (R-HSA-198933)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "10499918;10746781;11237011;11265639;11489943;11513152;11556966;11733001;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;17911614;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22020283;22396535;23695528;23929856;24305946;25703557;25716998;26284469;26300885;35051231;36807537;36849422;37169313;37647275;38924750;7531291;7542404;7650366;7716543;8178173;8662091;8760804;8777725;8995416;9285412;9314561;9430221;9700512;9730896", "class_list": "", "function": "Evaluation of KIR3DL1/KIR3DS1 allelic polymorphisms in Kenyan children with endemic Burkitt lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Expression profile of KIR3DS1/KIR3DL1 receptors in association with immunological responses in TB, HIV and HIV/TB infected patients., [RefSeq, PubMed]; HLA-Bw4 in association with KIR3DL1 favors natural killer cell-mediated protection against severe COVID-19., [RefSeq, PubMed]; Killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 1 gene *007 may modulate disease progression of human immunodeficiency virus-1 infection in the Japanese population., [RefSeq, PubMed]; Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]., [RefSeq]; Oncogenic alterations in KIR3DL1 in cutaneous acral CD8+ lymphoproliferative disorder., [RefSeq, PubMed]; Receptor on natural killer (NK) cells for HLA Bw4 allele. Inhibits the activity of NK cells thus preventing cell lysis., [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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O43473;Q14946;Q16541", "ec_number_list": "", "go_molecular_function": "GO:0030109 HLA-B specific inhibitory MHC class I receptor activity;GO:0060090 molecular adaptor activity;GO:0004888 transmembrane signaling receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0006955 immune response;GO:0042267 natural killer cell mediated cytotoxicity;GO:0007154 cell communication", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "P43629-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30405-1", "uniprot_id": "PPIF_HUMAN", "mass": 22040.0, "length": 207, "protein_name": "Peptidyl-prolyl cis-trans isomerase F, mitochondrial", "gene_name": "PPIF", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase F, mitochondrial precursor", "refseq_ac": "NP_005720", "gene_names_uniprotkb": "PPIF; CYP3", "gene_names_refseq": "CYP3; CyP-M; Cyp-D; CypD; PPIF", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase F, mitochondrial; 5.2.1.8; CyP-D; CyP-M; Cyclophilin D; Cyclophilin F; CypD; Mitochondrial cyclophilin; PPIase F; Rotamase F", "protein_names_refseq": "PPIase F; cyclophilin 3; cyclophilin D; cyclophilin F; mitochondrial cyclophilin; peptidyl-prolyl cis-trans isomerase F, mitochondrial precursor; peptidyl-prolyl cis-trans isomerase F, mitochondrial; peptidyl-prolyl cis-trans isomerase, mitochondrial; rotamase F", "tax_id": 9606, "disease": "", "pathway": " (hsa:10105)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;10406942;11237011;12077116;15858260;1744118;18076075;18614807;19228691;20305658;20676357;20950273;21740066;21904027;21930693;22726440;24715725;25418920;26154972;26387735;26811146;26976564;27600516;28063628;28832583;28904123;29242379;29393594;29557506;29632046;30192525;30833945;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32814770;32938616;33912179;33936100;33968037;34171305;34357683;34509645;34932366;35051231;35580925;37074911;38639088;38959543;39524354", "class_list": "", "function": "Crystal structure of human cyclophilin D in complex with its inhibitor, cyclosporin A at 0.96-A resolution, using a K133I mutant of human CypD, [RefSeq, PubMed]; Cyclophilin D protects cell from cell death., [RefSeq, PubMed]; Dissecting prostate Cancer: Single-Cell insight into Macrophage Diversity, molecular Prognosticators, and the role of Peptidylprolyl Isomerase F., [RefSeq, PubMed]; Mitochondrial CypD Acetylation Promotes Endothelial Dysfunction and Hypertension., [RefSeq, PubMed]; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Involved in regulation of the mitochondrial permeability transition pore (mPTP) (PubMed:26387735). It is proposed that its association with the mPTP is masking a binding site for inhibiting inorganic phosphate (Pi) and promotes the open probability of the mPTP leading to apoptosis or necrosis; the requirement of the PPIase activity for this function is debated (PubMed:26387735). In cooperation with mitochondrial p53/TP53 is involved in activating oxidative stress-induced necrosis (PubMed:22726440). Involved in modulation of mitochondrial membrane F(1)F(0) ATP synthase activity and regulation of mitochondrial matrix adenine nucleotide levels (By similarity). Has anti-apoptotic activity independently of mPTP and in cooperation with BCL2 inhibits cytochrome c-dependent apoptosis (PubMed:19228691)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides., [UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is thought to be involved in the induction of apoptotic and necrotic cell death. [provided by RefSeq, Jul 2008]., [RefSeq]; There was increased [Ca(2+)](c), [Ca(2+)](m), mCICR, MPTP opening, and expression of cyclophilin D and decreased DeltaPsim in POAG TM cells compared with control 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": 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": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q2YDB7;Q5W131", "ec_number_list": "5.2.1.8", "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0016018 cyclosporin A binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0016020 membrane;GO:0005757 mitochondrial permeability transition pore complex", "go_biological_process": "GO:1902686 mitochondrial outer membrane permeabilization involved in programmed cell death;GO:0002931 response to ischemia;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0071277 cellular response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "P30405-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00204-1", "uniprot_id": "ST2B1_HUMAN", "mass": 41308.0, "length": 365, "protein_name": "Sulfotransferase 2B1", "gene_name": "SULT2B1", "organism": "Human", "refseq_name": "sulfotransferase 2B1 isoform a", "refseq_ac": "NP_004596", "gene_names_uniprotkb": "SULT2B1; HSST2", "gene_names_refseq": "ARCI14; HSST2; SULT2B1", "protein_names_uniprotkb": "Sulfotransferase 2B1; 2.8.2.2; Alcohol sulfotransferase; Hydroxysteroid sulfotransferase 2; ST2B1; Sulfotransferase family 2B member 1; Sulfotransferase family cytosolic 2B member 1", "protein_names_refseq": "ST2B1; alcohol sulfotransferase; hydroxysteroid sulfotransferase 2; hydroxysteroid sulfotransferase SULT2B1a; sulfotransferase 2B1 isoform a; sulfotransferase 2B1; sulfotransferase family, cytosolic, 2B, member 1", "tax_id": 9606, "disease": "autosomal recessive congenital ichthyosis 14 (Disease Ontology:DOID:0080258)", "pathway": " (hsa:6820)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "12145317;12923182;16855051;19589875;20068231;21855633;28575648;29557506;33912179;34730281;35051231;37550000;38286358;38372484;38777329;9799594", "class_list": "", "function": "Knockdown of sulfotransferase 2B1 suppresses cell migration, invasion and promotes apoptosis in ovarian carcinoma cells via targeting annexin A9., [RefSeq, PubMed]; Macrophage Sult2b1 promotes pathological neovascularization in age-related macular degeneration. Publication Status: Online-Only, [RefSeq, PubMed]; Reducing SULT2B1 promotes the interaction of LncRNAgga3-204 with SMAD4 to inhibit the macrophage inflammatory response and delay atherosclerosis progression., [RefSeq, PubMed]; Sulfonates pregnenolone but not cholesterol., [UniProtKB, PubMed]; Sulfotransferase SULT2B1 facilitates colon cancer metastasis by promoting SCD1-mediated lipid metabolism., [RefSeq, PubMed]; Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation. Responsible for the sulfation of cholesterol (PubMed:12145317, PubMed:19589875). Catalyzes sulfation of the 3beta-hydroxyl groups of steroids, such as, pregnenolone and dehydroepiandrosterone (DHEA) (PubMed:12145317, PubMed:16855051, PubMed:21855633, PubMed:9799594). Preferentially sulfonates cholesterol, while it also has significant activity with pregnenolone and DHEA (PubMed:12145317, PubMed:21855633). Plays a role in epidermal cholesterol metabolism and in the regulation of epidermal proliferation and differentiation (PubMed:28575648)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The promoter hypermethylation of SULT2B1 accelerates esophagus tumorigenesis via downregulated PER1. Erratum:[Thorac Cancer. 2022 Sep;13(18):2664-2665. doi: 10.1111/1759-7714.14639. PMID: 36106348], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 12, "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": "O00205;O75814", "ec_number_list": "2.8.2.2;2.8.2.-;2.8.2.1;2.8.2.4;2.8.2.14", "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0050294 steroid sulfotransferase activity;GO:0015485 cholesterol binding;GO:0003676 nucleic acid binding;GO:0036094 small molecule binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0051923 sulfation;GO:0008203 cholesterol metabolic process;GO:0008285 negative regulation of cell population proliferation;GO:0050427 3'-phosphoadenosine 5'-phosphosulfate metabolic process;GO:0045606 positive regulation of epidermal cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "O00204-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P50552-1", "uniprot_id": "VASP_HUMAN", "mass": 39830.0, "length": 380, "protein_name": "Vasodilator-stimulated phosphoprotein", "gene_name": "VASP", "organism": "Human", "refseq_name": "vasodilator-stimulated phosphoprotein", "refseq_ac": "NP_003361", "gene_names_uniprotkb": "VASP", "gene_names_refseq": "VASP", "protein_names_uniprotkb": "Vasodilator-stimulated phosphoprotein; VASP", "protein_names_refseq": "vasodilator-stimulated phosphoprotein", "tax_id": 9606, "disease": "tauopathy (Disease Ontology:DOID:680)", "pathway": " (hsa:7408); (R-HSA-202433); (R-HSA-376176); (R-HSA-446353)", "pathway_count": 4, "publication_count": 226, "publication_id_list": "10.1101/2023.09.13.557529;10087267;10102266;10102268;10438535;10637295;10671560;10747096;10801818;10811803;10892742;10990454;11048639;11237011;11375980;11390650;11607830;11748216;11752630;11919161;12508280;12576312;12665801;12679033;14510693;14602552;14679200;14706852;15063764;15178555;15265792;15469845;15569942;15592455;15670578;15939738;16197368;16283430;16497976;16531412;16631741;17049286;17082196;17100655;17167837;17287340;17322306;17463178;17565045;17652306;17684042;17684063;17867432;17913834;17914456;18022387;18079117;18079207;18088087;18195108;18281604;18445594;18551195;18559661;18669648;18689676;18832777;19109554;19165715;19608861;19651622;19711176;19798690;19825941;20058876;20068231;20166139;20230923;20375348;20404115;20525309;20624010;20958117;21218856;21423205;21451103;21472294;21502370;21702043;21827504;21945940;22020732;22034949;22210825;22223895;22299025;22347188;23162660;23186163;23301498;23469931;23481700;23743824;23846685;23850619;23909451;24691407;24715725;24779009;24856644;24963131;25056834;25298072;25450971;25543053;25561938;25576301;25759389;25802875;25913239;26154972;26336132;26440524;26635911;26652273;26758079;26992070;27452731;27515066;27711191;27746688;27846572;27862975;27896950;27898723;27920218;27959381;28228285;28254816;28278256;28405672;28467828;28661475;28783324;28832583;28834231;28871256;28904123;29024896;29155852;29242379;29314611;29371260;29393594;29401709;29435180;29493099;29508533;29557506;29632711;29653944;29659727;29786170;29789417;30315122;30429286;30460698;31020640;31217245;31611695;31831789;31844290;32085646;32157095;32331276;32350084;32357974;32387766;32397169;32488085;32502341;32647264;32704001;32897882;32938616;32983136;33043033;33123756;33129878;33141586;33592498;33634102;33691108;33777164;33912179;33936100;33968037;34019948;34087483;34211107;34357683;34725712;34932366;35051231;35154160;35251023;35580925;36010968;36238292;36284347;37890607;37938771;38665916;40914422;7565724;7737110;7828592;7925440;7980622;8182057;8798379;8812448;8824201;9115214;9685341;9846482", "class_list": "", "function": "Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance, lamellipodial and filopodial dynamics, platelet activation and cell migration. VASP promotes actin filament elongation. It protects the barbed end of growing actin filaments against capping and increases the rate of actin polymerization in the presence of capping protein. VASP stimulates actin filament elongation by promoting the transfer of profilin-bound actin monomers onto the barbed end of growing actin filaments. Plays a role in actin-based mobility of Listeria monocytogenes in host cells. Regulates actin dynamics in platelets and plays an important role in regulating platelet aggregation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Expression of the phagocytic receptors alphaMbeta2 and alphaXbeta2 is controlled by RIAM, VASP and Vinculin in neutrophil-differentiated HL-60 cells. Publication Status: Online-Only, [RefSeq, PubMed]; PKCzeta phosphorylates VASP to mediate chemotaxis in breast cancer cells., [RefSeq, PubMed]; Vasodilator-stimulated phosphoprotein (VASP) is a member of the Ena-VASP protein family. Ena-VASP family members contain an EHV1 N-terminal domain that binds proteins containing E/DFPPPPXD/E motifs and targets Ena-VASP proteins to focal adhesions. In the mid-region of the protein, family members have a proline-rich domain that binds SH3 and WW domain-containing proteins. Their C-terminal EVH2 domain mediates tetramerization and binds both G and F actin. VASP is associated with filamentous actin formation and likely plays a widespread role in cell adhesion and motility. VASP may also be involved in the intracellular signaling pathways that regulate integrin-extracellular matrix interactions. VASP is regulated by the cyclic nucleotide-dependent kinases PKA and PKG. [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": 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": 25, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RBT9;Q6PIZ1;Q93035", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0017124 SH3 domain binding;GO:0042802 identical protein binding;GO:0045296 cadherin binding;GO:0005522 profilin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0005925 focal adhesion", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0008154 actin polymerization or depolymerization;GO:0001843 neural tube closure;GO:0030838 positive regulation of actin filament polymerization;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 23.1, "record_id": "P50552-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P00813-1", "uniprot_id": "ADA_HUMAN", "mass": 40764.0, "length": 363, "protein_name": "Adenosine deaminase", "gene_name": "ADA", "organism": "Human", "refseq_name": "adenosine deaminase isoform 1", "refseq_ac": "NP_000013", "gene_names_uniprotkb": "ADA; ADA1", "gene_names_refseq": "ADA1; ADA", "protein_names_uniprotkb": "Adenosine deaminase; 3.5.4.4; Adenosine aminohydrolase", "protein_names_refseq": "adenosine aminohydrolase; adenosine deaminase isoform 1", "tax_id": 9606, "disease": "tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); trypanosomiasis (Disease Ontology:DOID:10113); Legionnaires' disease (Disease Ontology:DOID:10457); stomach cancer (Disease Ontology:DOID:10534); pleural tuberculosis (Disease Ontology:DOID:106); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); Q fever (Disease Ontology:DOID:11100); pulmonary edema (Disease Ontology:DOID:11396); familial hyperlipidemia (Disease Ontology:DOID:1168); uterine fibroid (Disease Ontology:DOID:13223); Mycoplasma pneumoniae pneumonia (Disease Ontology:DOID:13276); pulmonary sarcoidosis (Disease Ontology:DOID:13406); sporotrichosis (Disease Ontology:DOID:14484); malignant mesothelioma (Disease Ontology:DOID:1790); colon cancer (Disease Ontology:DOID:219); leptospirosis (Disease Ontology:DOID:2297); asthma (Disease Ontology:DOID:2841); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); pulmonary tuberculosis (Disease Ontology:DOID:2957); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hyperglycemia (Disease Ontology:DOID:4195); adenosine deaminase deficiency (Disease Ontology:DOID:5810); severe combined immunodeficiency (Disease Ontology:DOID:627); peritonitis (Disease Ontology:DOID:8283); lung disease (Disease Ontology:DOID:850); oral cavity cancer (Disease Ontology:DOID:8618); colorectal cancer (Disease Ontology:DOID:9256); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:100); (R-HSA-74217); (R-HSA-9734735); (R-HSA-9755088)", "pathway_count": 4, "publication_count": 124, "publication_id_list": "10200056;10951221;11237011;11427893;11772392;12009299;12499231;12606760;1284479;1429593;14691230;15016824;15861032;15917509;16221767;16265592;16359702;16446384;16670267;17412768;18399692;18635603;18772397;19164483;19608861;20096989;20173735;20486858;20504255;20959412;2104852;21396942;2159925;2166947;21734253;21755941;218932;21919946;227870;23193172;23301498;24107682;24715725;24957263;2539852;25502872;25880248;26038697;26166670;2737800;2783588;280136;28228285;2844225;2845866;28467828;28510447;28514659;28832583;28904123;29242379;29557506;29580856;2999129;30045981;3007108;3028473;3029074;30315122;30716294;31020640;31520644;3182793;31844290;32144205;32157095;32350084;32357974;32983136;33298915;33592498;33912179;33936100;34078123;34171305;34357683;34433824;35051231;35251023;35580925;36215666;37127120;37154862;37683902;37685949;37695015;3839456;3839802;40307207;457664;6090454;6208479;6281270;6300847;6546794;6688808;6771276;7599635;7907293;8031011;8101391;8227344;8299233;8452534;8589684;8626464;8692979;9225964;9361033;9605565;9647364;9804782;9843365;9857047", "class_list": "", "function": "Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine (PubMed:16670267, PubMed:23193172, PubMed:26166670, PubMed:8452534, PubMed:9361033). Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4 (PubMed:20959412). Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion (PubMed:11772392). Enhances dendritic cell immunogenicity by affecting dendritic cell costimulatory molecule expression and cytokines and chemokines secretion (By similarity). Enhances CD4+ T-cell differentiation and proliferation (PubMed:20959412). Acts as a positive modulator of adenosine receptors ADORA1 and ADORA2A, by enhancing their ligand affinity via conformational change (PubMed:23193172). Stimulates plasminogen activation (PubMed:15016824). Plays a role in male fertility (PubMed:21919946, PubMed:26166670). Plays a protective role in early postimplantation embryonic development (By similarity). Also responsible for the deamination of cordycepin (3'-deoxyadenosine), a fungal natural product that shows antitumor, antibacterial, antifungal, antivirus, and immune regulation properties (PubMed:26038697)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Changes in Adenosine Deaminase Activity and Endothelial Dysfunction after Mild Coronavirus Disease-2019. Publication Status: Online-Only, [RefSeq, PubMed]; Correlation of serum adenosine deaminase activity with disease activity in patients with primary Sjogren's syndrome., [RefSeq, PubMed]; Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China., [RefSeq, PubMed]; Optimized expression and purification of a human adenosine deaminase in E. coli and characterization of its Asp8Asn variant., [RefSeq, PubMed]; The Activity of Adenosine Deaminase and Dipeptidyl Peptidase IV in Children With Attention Deficit Hyperactivity Disorder., [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 15, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 32, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53F92;Q6LA59", "ec_number_list": "3.5.4.4;2.4.2.1;2.4.2.28;4.3.3.-", "go_molecular_function": "GO:0004000 adenosine deaminase activity;GO:0008270 zinc ion binding;GO:0019239 deaminase activity;GO:0046936 2'-deoxyadenosine deaminase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0005764 lysosome", "go_biological_process": "GO:0045187 regulation of circadian sleep/wake cycle, sleep;GO:0006154 adenosine catabolic process;GO:0007155 cell adhesion;GO:0014074 response to purine-containing compound;GO:0043101 purine-containing compound salvage", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "P00813-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95872-1", "uniprot_id": "GPAN1_HUMAN", "mass": 39314.0, "length": 356, "protein_name": "G patch domain and ankyrin repeat-containing protein 1", "gene_name": "GPANK1", "organism": "Human", "refseq_name": "G patch domain and ankyrin repeat-containing protein 1", "refseq_ac": "NP_001186166", "gene_names_uniprotkb": "GPANK1; ANKRD59; BAT4; G5; GPATCH10", "gene_names_refseq": "ANKRD59; BAT4; D6S54E; G5; GPANK1; GPATCH10", "protein_names_uniprotkb": "G patch domain and ankyrin repeat-containing protein 1; Ankyrin repeat domain-containing protein 59; G patch domain-containing protein 10; HLA-B-associated transcript 4; Protein G5", "protein_names_refseq": "G patch domain and ankyrin repeat-containing protein 1; G patch domain and ankyrin repeats-containing protein 1; G patch domain containing 10; HLA-B-associated transcript 4; ankyrin repeat domain-containing protein 59; g patch domain-containing protein 10; protein BAT4; protein G5", "tax_id": 9606, "disease": "", "pathway": " (hsa:7918)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;14656967;18669648;18835879;21248752;23481700;26154972;28832583;29242379;29557506;30429286;31217245;31844290;32157095;33981976;35051231;36241641", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NG25;B0UXA2;Q5SQ49", "ec_number_list": "", "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O95872-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKS6-1", "uniprot_id": "PACN3_HUMAN", "mass": 48487.0, "length": 424, "protein_name": "Protein kinase C and casein kinase substrate in neurons protein 3", "gene_name": "PACSIN3", "organism": "Human", "refseq_name": "protein kinase C and casein kinase substrate in neurons protein 3", "refseq_ac": "NP_001171903", "gene_names_uniprotkb": "PACSIN3", "gene_names_refseq": "CMYO27; PACSIN3; SDPIII", "protein_names_uniprotkb": "Protein kinase C and casein kinase substrate in neurons protein 3; SH3 domain-containing protein 6511", "protein_names_refseq": "SH3 domain-containing protein 6511; protein kinase C and casein kinase substrate in neurons protein 3; syndapin III", "tax_id": 9606, "disease": "congenital myopathy 27 (Disease Ontology:DOID:0061258); Huntington's disease (Disease Ontology:DOID:12858); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:29763); (R-HSA-8856828)", "pathway_count": 2, "publication_count": 165, "publication_id_list": "10531379;10535736;10542231;10559856;10559861;10559924;10625686;10766823;11082044;11179684;11231140;11237011;11239472;11470803;11516654;11517213;11532990;11577110;11877457;11877461;11889126;12057195;12213833;12447393;12847086;12952949;12952982;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;17081983;17158794;17494869;17512409;17540576;17609109;17681954;17762867;17765681;17978091;18093523;18220336;18388313;18452278;1847920;18669648;18767875;18790740;18981233;19092055;19287005;19296720;19415658;19458185;19536138;19575674;19603039;19651622;19664994;19690332;19696796;19713939;19776351;19809571;20033059;20059951;20068231;20166139;20211604;20231386;20428113;20448150;20826345;20946875;2115402;21187331;21278753;21316588;21406692;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;22099461;22233676;22484487;22505844;22815487;22863004;23186163;23236520;23297414;23536704;23823722;23861397;23891661;24130457;24186068;24275569;24581490;24789820;24966051;25107275;25303366;25341920;25576301;26042225;26403691;28510447;29242379;29393594;30429286;31844290;32157095;32938616;33592498;33968037;34171305;35051231;35251023;35318648;35580925;36215666;36241641;38637313;6146630;7877694;8524399;8552632;9092476;9100026;9427626;9428629;9635431;9736607", "class_list": "", "function": "PACSIN3 has a novel function as an up-regulator in the signaling of proHB-EGF shedding induced by TPA and angiotensin II, [RefSeq, PubMed]; Plays a role in endocytosis and regulates internalization of plasma membrane proteins. Overexpression impairs internalization of SLC2A1/GLUT1 and TRPV4 and increases the levels of SLC2A1/GLUT1 and TRPV4 at the cell membrane. Inhibits the TRPV4 calcium channel activity (By similarity)., [UniProtKB, PubMed]; This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "A6NH84;Q9H331;Q9NWV9", "ec_number_list": "", "go_molecular_function": "GO:0005543 phospholipid binding;GO:0042802 identical protein binding;GO:0008289 lipid binding;GO:0008092 cytoskeletal protein binding;GO:0019855 calcium channel inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0045806 negative regulation of endocytosis;GO:0006897 endocytosis;GO:0030100 regulation of endocytosis;GO:0051044 positive regulation of membrane protein ectodomain proteolysis;GO:0007010 cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q9UKS6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95073-1", "uniprot_id": "FSBP_HUMAN", "mass": 34768.0, "length": 299, "protein_name": "Fibrinogen silencer-binding protein", "gene_name": "FSBP", "organism": "Human", "refseq_name": "fibrinogen silencer-binding protein", "refseq_ac": "NP_001243070", "gene_names_uniprotkb": "FSBP", "gene_names_refseq": "FSBP", "protein_names_uniprotkb": "Fibrinogen silencer-binding protein", "protein_names_refseq": "fibrinogen silencer-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:100861412)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;20531236;29557506;31154438;31217245;31844290;32157095;32265295;32488085;32938616;33592498;34932366;35051231", "class_list": "", "function": "Transcriptional repressor that down-regulates the expression of the fibrinogen gamma chain. Represses transcription of GSK3B gene promoter via its interaction with APBA1., [UniProtKB, PubMed]; We show here that through its PDZ domains, X11alpha interacts with a novel transcription factor, fibrinogen silencer binding protein, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q8N4S5", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "O95073-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60565-1", "uniprot_id": "GREM1_HUMAN", "mass": 20697.0, "length": 184, "protein_name": "Gremlin-1", "gene_name": "GREM1", "organism": "Human", "refseq_name": "gremlin-1 isoform 2 precursor", "refseq_ac": "NP_001178252", "gene_names_uniprotkb": "GREM1; CKTSF1B1; DAND2; DRM; PIG2", "gene_names_refseq": "C15DUPq; CKTSF1B1; CRAC1; CRCS4; DAND2; DRM; DUP15q; GREM1; GREMLIN; HMPS1; HMPS; IHG-2; MPSH; PIG2", "protein_names_uniprotkb": "Gremlin-1; Cell proliferation-inducing gene 2 protein; Cysteine knot superfamily 1, BMP antagonist 1; DAN domain family member 2; Down-regulated in Mos-transformed cells protein; IHG-2; Increased in high glucose protein 2", "protein_names_refseq": "DAN domain family member 2; cell proliferation-inducing gene 2 protein; colorectal adenoma and carcinoma 1; cysteine knot superfamily 1, BMP antagonist 1; down-regulated in Mos-transformed cells protein; gremlin 1, cysteine knot superfamily, homolog; gremlin 1-like protein; gremlin-1 isoform 2 precursor; hereditary mixed polyposis syndrome; increased in high glucose-2", "tax_id": 9606, "disease": "hereditary mixed polyposis syndrome 1 (Disease Ontology:DOID:0111685)", "pathway": " (hsa:26585); (R-HSA-9830674)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10744662;10894942;11237011;15340161;18077418;22561515;27036124;30459171;36010968;37074911;38451311;38451321;38524634;38665916;39125809;39221981;9660951", "class_list": "", "function": "BMP4 and GREM1 are targets of SHH signaling and downstream regulators of collagen in the penis., [RefSeq, PubMed]; Cytokine that may play an important role during carcinogenesis and metanephric kidney organogenesis, as a BMP antagonist required for early limb outgrowth and patterning in maintaining the FGF4-SHH feedback loop. Down-regulates the BMP4 signaling in a dose-dependent manner (By similarity). Antagonist of BMP2; inhibits BMP2-mediated differentiation of osteoblasts (in vitro) (PubMed:27036124). Acts as inhibitor of monocyte chemotaxis. Can inhibit the growth or viability of normal cells but not transformed cells when is overexpressed (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Expression of Osteopontin and Gremlin 1 Proteins in Cardiomyocytes in Ischemic Heart Failure. Publication Status: Online-Only, [RefSeq, PubMed]; GREM1 Negatively Regulates Osteo-/Dentinogenic Differentiation of Dental Pulp Stem Cells via Association with YWHAH., [RefSeq, PubMed]; SHH regulates penile morphology and smooth muscle through a mechanism involving BMP4 and GREM1., [RefSeq, PubMed]; This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]., [RefSeq]; Unravelling the role of HAS2, GREM1, and PTGS2 gene expression in cumulus cells: implications for human oocyte development competency - a systematic review and integrated bioinformatic analysis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q52LV3;Q8N914;Q8N936", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0005125 cytokine activity;GO:0030297 transmembrane receptor protein tyrosine kinase activator activity;GO:0048018 receptor ligand activity;GO:0016015 morphogen activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0010717 regulation of epithelial to mesenchymal transition;GO:0051893 regulation of focal adhesion assembly;GO:0038098 sequestering of BMP from receptor via BMP binding;GO:0046851 negative regulation of bone remodeling;GO:0090027 negative regulation of monocyte chemotaxis", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "O60565-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P41743-1", "uniprot_id": "KPCI_HUMAN", "mass": 68262.0, "length": 596, "protein_name": "Protein kinase C iota type", "gene_name": "PRKCI", "organism": "Human", "refseq_name": "protein kinase C iota type", "refseq_ac": "NP_002731", "gene_names_uniprotkb": "PRKCI; DXS1179E", "gene_names_refseq": "DXS1179E; PKCI; PRKCI; nPKC-iota", "protein_names_uniprotkb": "Protein kinase C iota type; 2.7.11.13; Atypical protein kinase C-lambda/iota; PRKC-lambda/iota; aPKC-lambda/iota; nPKC-iota", "protein_names_refseq": "PRKC-lambda/iota; aPKC-lambda/iota; atypical protein kinase C-lambda/iota; protein kinase C iota type", "tax_id": 9606, "disease": "abdominal obesity-metabolic syndrome (Disease Ontology:DOID:0060611); invasive ductal carcinoma (Disease Ontology:DOID:3008); carcinoma (Disease Ontology:DOID:305); high grade glioma (Disease Ontology:DOID:3070); ovarian carcinoma (Disease Ontology:DOID:4001); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5584); (R-HSA-1912408); (R-HSA-209543); (R-HSA-420029); (R-HSA-9755511)", "pathway_count": 5, "publication_count": 183, "publication_id_list": "10356400;10467349;10747026;10906326;11042363;11244088;11257119;11260256;11447115;11487608;11713277;11724794;11891849;11964389;12198130;12700136;12725730;12871960;12893243;12953056;14517290;14570876;14585973;14684752;14688281;14764894;14991602;15143057;15465037;15472075;15590654;15684396;15695176;15983046;15994303;16125198;16129888;16286508;16359182;16452474;16612405;16792529;16962933;17313651;17344417;17344846;17512459;17540598;17540599;17554337;17685488;17823410;17979524;18220336;18238777;18270268;18273910;1831692;18452278;18489133;18669648;18691976;19150886;19327373;19617897;19714243;19723635;19748539;19773441;20068231;20080834;20090754;20351093;20378532;20442293;20442780;20452972;20495340;20495621;20801121;20805998;21189248;21220506;21280156;21391649;21402699;21406692;21419810;21551231;21602795;21734707;21875955;22110129;22789539;22872865;23274085;24011591;24275569;24298019;24715725;25040165;25576301;25793262;25921531;26117325;26583321;26768311;26942676;26977885;26992070;27600516;27846572;27920218;28380357;28832583;28834231;28904123;29101237;29233872;29242379;29331515;29450944;29526543;29557506;29786170;29789417;30315122;30429286;30524438;30610225;30779550;30833945;31154438;31530632;31546975;31844290;31848261;31998317;32157095;32161166;32284348;32293500;32387766;32502341;32640524;32672401;32938616;33009401;33298915;33537174;33592498;33791708;33859744;33912179;33968037;33981976;34019948;34087483;34171305;34357683;34509645;35051231;35561310;35580925;36010968;36241641;36833174;37016317;37938771;38092754;38665916;39276277;7607695;8226978;8524286;8599092;8837778;8878478;9346882;9566925;9575168;9693032;9915784", "class_list": "", "function": "Calcium- and diacylglycerol-independent serine/ threonine-protein kinase that plays a general protective role against apoptotic stimuli, is involved in NF-kappa-B activation, cell survival, differentiation and polarity, and contributes to the regulation of microtubule dynamics in the early secretory pathway. Is necessary for BCR-ABL oncogene-mediated resistance to apoptotic drug in leukemia cells, protecting leukemia cells against drug-induced apoptosis. In cultured neurons, prevents amyloid beta protein-induced apoptosis by interrupting cell death process at a very early step. In glioblastoma cells, may function downstream of phosphatidylinositol 3-kinase (PI(3)K) and PDPK1 in the promotion of cell survival by phosphorylating and inhibiting the pro-apoptotic factor BAD. Can form a protein complex in non-small cell lung cancer (NSCLC) cells with PARD6A and ECT2 and regulate ECT2 oncogenic activity by phosphorylation, which in turn promotes transformed growth and invasion. In response to nerve growth factor (NGF), acts downstream of SRC to phosphorylate and activate IRAK1, allowing the subsequent activation of NF-kappa-B and neuronal cell survival. Functions in the organization of the apical domain in epithelial cells by phosphorylating EZR. This step is crucial for activation and normal distribution of EZR at the early stages of intestinal epithelial cell differentiation. Forms a protein complex with LLGL1 and PARD6B independently of PARD3 to regulate epithelial cell polarity. Plays a role in microtubule dynamics in the early secretory pathway through interaction with RAB2A and GAPDH and recruitment to vesicular tubular clusters (VTCs). In human coronary artery endothelial cells (HCAEC), is activated by saturated fatty acids and mediates lipid-induced apoptosis. Involved in early synaptic long term potentiation phase in CA1 hippocampal cells and short term memory formation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Enhanced SREBP2-driven cholesterol biosynthesis by PKClambda/iota deficiency in intestinal epithelial cells promotes aggressive serrated tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Investigation of UTR Variants by Computational Approaches Reveal Their Functional Significance in PRKCI Gene Regulation. Publication Status: Online-Only, [RefSeq, PubMed]; Paired protein kinases PRKCI-RIPK2 promote pancreatic cancer growth and metastasis via enhancing NF-kappaB/JNK/ERK phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; Protein kinase C iota promotes glycolysis via PI3K/AKT/mTOR signalling in high grade serous ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involved in a wide variety of cellular processes. This protein kinase is calcium-independent and phospholipid-dependent. It is not activated by phorbolesters or diacylglycerol. This kinase can be recruited to vesicle tubular clusters (VTCs) by direct interaction with the small GTPase RAB2, where this kinase phosphorylates glyceraldehyde-3-phosphate dehydrogenase (GAPD/GAPDH) and plays a role in microtubule dynamics in the early secretory pathway. This kinase is found to be necessary for BCL-ABL-mediated resistance to drug-induced apoptosis and therefore protects leukemia cells against drug-induced apoptosis. There is a single exon pseudogene mapped on chromosome X. [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": 21, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DNQ4;Q8WW06", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004699 diacylglycerol-dependent, calcium-independent serine/threonine kinase activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0005543 phospholipid binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005768 endosome", "go_biological_process": "GO:0060252 positive regulation of glial cell proliferation;GO:0006468 protein phosphorylation;GO:0010976 positive regulation of neuron projection development;GO:0016477 cell migration;GO:0032869 cellular response to insulin stimulus", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "P41743-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99685-1", "uniprot_id": "MGLL_HUMAN", "mass": 33261.0, "length": 303, "protein_name": "Monoglyceride lipase", "gene_name": "MGLL", "organism": "Human", "refseq_name": "monoglyceride lipase isoform 2", "refseq_ac": "NP_001003794", "gene_names_uniprotkb": "MGLL", "gene_names_refseq": "HU-K5; HUK5; MAGL; MGLL; MGL", "protein_names_uniprotkb": "Monoglyceride lipase; 3.1.1.23; HU-K5; Lysophospholipase homolog; Lysophospholipase-like; MAGL; MGL; Monoacylglycerol lipase", "protein_names_refseq": "lysophospholipase homolog; monoacylglycerol lipase; monoglyceride lipase isoform 2", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); alcohol use disorder (Disease Ontology:DOID:1574); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:11343); (R-HSA-1482883); (R-HSA-163560); (R-HSA-426048); (R-HSA-9841922)", "pathway_count": 5, "publication_count": 101, "publication_id_list": "10348910;10425206;10558993;10671541;10835357;10882139;11027271;11237011;11466336;11470505;11481335;12829629;12832420;1310260;14521909;15272052;15364929;15456755;15671038;16106050;16380219;16741517;17603008;17621164;17761950;18096503;18446792;18452279;19029917;19043829;19126434;19172745;19181555;19957260;19962385;20034933;20079333;21049984;21068004;21418147;21504868;22969151;23783831;24368842;24715725;25548167;25645385;26154972;26992070;27920218;28228285;28467828;28510447;28514659;28832583;28904123;29242379;29557506;29786170;29789417;30315122;30429286;31092671;31154438;31217245;31844290;31848261;31937595;32161166;32350084;32357974;32897882;32983136;33141586;33298915;33329381;33592498;33691108;33912179;33936100;33968037;34509645;34561969;34657876;35051231;35318648;35580925;36284347;37403022;37938771;38389852;38518595;39894887;7295321;8521497;8521498;9065481;9171241;9495531;9744270;9756920", "class_list": "", "function": "An apolar helix covering the active site also gives structural insight into the amphitropic character of MAGL, and likely explains how MAGL interacts with membranes to recruit its substrate., [RefSeq, PubMed]; Converts monoacylglycerides to free fatty acids and glycerol (PubMed:19029917, PubMed:20079333, PubMed:21049984, PubMed:22969151, PubMed:24368842). Hydrolyzes the endocannabinoid 2-arachidonoylglycerol, and thereby contributes to the regulation of endocannabinoid signaling, nociperception and perception of pain (PubMed:19029917, PubMed:20079333, PubMed:21049984, PubMed:22969151, PubMed:24368842). Regulates the levels of fatty acids that serve as signaling molecules and promote cancer cell migration, invasion and tumor growth (PubMed:20079333)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Converts monoacylglycerides to free fatty acids and glycerol. Hydrolyzes the endocannabinoid 2-arachidonoylglycerol, and thereby contributes to the regulation of endocannabinoid signaling, nociperception and perception of pain. Regulates the levels of fatty acids that serve as signaling molecules and promote cancer cell migration, invasion and tumor growth., [UniProtKB, UniProtKB, UniProtKB]; Decreased serum levels of glycerol-3- phosphate dehydrogenase 1 and monoacylglycerol lipase act as diagnostic biomarkers for breast cancer., [RefSeq, PubMed]; Full proteomic characterization of hMGL was carried out, which showed (1) an absence of intramolecular disulfide bridges in the functional, recombinant enzyme and (2) the post-translational removal of the enzyme's N-terminal methionine, [RefSeq, PubMed]; IL-8-induced CXCR2 down-regulation in circulating monocytes in hepatocellular carcinoma is partially dependent on MAGL. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of MAGL attenuates Intervertebral Disc Degeneration by Delaying nucleus pulposus senescence through STING., [RefSeq, PubMed]; MAGL protects against renal fibrosis through inhibiting tubular cell lipotoxicity. Publication Status: Online-Only, [RefSeq, PubMed]; Not associated with susceptibility to alcoholism in a Japanese population. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a serine hydrolase of the AB hydrolase superfamily that catalyzes the conversion of monoacylglycerides to free fatty acids and glycerol. The encoded protein plays a critical role in several physiological processes including pain and nociperception through hydrolysis of the endocannabinoid 2-arachidonoylglycerol. Expression of this gene may play a role in cancer tumorigenesis and metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 0, "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": "B3KRC2;B7Z9D1;Q6IBG9;Q96AA5", "ec_number_list": "3.5.1.99;3.1.1.-;3.1.1.1;3.1.1.56;3.1.1.84;2.1.1.364;1.14.11.68;3.1.1.3;3.1.2.22;3.1.2.-;3.1.1.23;3.1.-.-;3.3.2.9;3.1.1.79;3.1.1.6;3.1.1.13;2.7.11.22;2.7.11.23;3.1.1.26;2.3.1.48;2.3.1.-;3.1.1.4;3.1.1.5;3.1.1.111", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0047372 monoacylglycerol lipase activity;GO:0004622 phosphatidylcholine lysophospholipase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005811 lipid droplet", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006954 inflammatory response;GO:0006633 fatty acid biosynthetic process;GO:0046464 acylglycerol catabolic process;GO:0051930 regulation of sensory perception of pain", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q99685-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43639-1", "uniprot_id": "NCK2_HUMAN", "mass": 42915.0, "length": 380, "protein_name": "Cytoplasmic protein NCK2", "gene_name": "NCK2", "organism": "Human", "refseq_name": "cytoplasmic protein NCK2 isoform A", "refseq_ac": "NP_001004720", "gene_names_uniprotkb": "NCK2; GRB4", "gene_names_refseq": "GRB4; NCK2; NCKbeta", "protein_names_uniprotkb": "Cytoplasmic protein NCK2; Growth factor receptor-bound protein 4; NCK adaptor protein 2; Nck-2; SH2/SH3 adaptor protein NCK-beta", "protein_names_refseq": "SH2/SH3 adaptor protein NCK-beta; cytoplasmic protein NCK2 isoform A; cytoplasmic protein NCK2; growth factor receptor-bound protein 4; noncatalytic region of tyrosine kinase, beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:8440); (R-HSA-186763); (R-HSA-373753); (R-HSA-3928664); (R-HSA-428540); (R-HSA-4420097); (R-HSA-8985801); (R-HSA-9013420); (R-HSA-9013424)", "pathway_count": 9, "publication_count": 173, "publication_id_list": "10026169;10037737;10047984;10075701;10207622;10330411;10393930;10395673;10508235;10541305;10579907;10611248;10677529;10692392;10744763;10749680;10805734;11007481;11171109;11237011;11240126;11278486;11340081;11459829;11557983;11562357;11695992;11696015;11733557;11983165;12134158;12214271;12215529;12391143;12464388;12470648;12660326;12660731;12668668;12676796;12695502;12810700;12820653;12846735;12865409;1314164;1374684;1375321;1396585;14521508;14570703;14633607;14724572;15026417;15247219;15308668;15331416;15345747;15350535;15545998;15556869;15570572;15579503;15634346;15688067;15695828;15800193;15843475;15962004;15994232;16336962;16337946;16525419;16543952;16604428;16630808;16760434;16835242;16966330;17030947;17199126;17237347;17293873;17310244;17355222;17504809;17686471;17893108;17923684;18033240;18088087;18452278;19064640;19230644;19267251;19443634;19664994;19690332;19807924;19915143;20166139;20233749;20547754;20658524;21445309;21508312;21565175;21600986;22223895;22327215;22339630;22689825;23186163;23216836;2466336;2472219;25880248;26375851;26598620;27600516;27846572;27862975;27920218;28832583;29242379;29393594;29632046;30429286;30833945;31844290;31848261;31871319;32157095;32350084;32357974;32387766;32488085;32502341;32737221;32938616;33592498;33912179;33968037;34087483;34357683;35051231;35580925;36284347;36504051;7509446;7685273;7691811;7692233;7935391;8388543;8443409;8617235;8647855;8657151;8940081;8986718;9099726;9182576;9393975;9398617;9472046;9484840;9488729;9546424;9737977;9739761;9778532;9843575", "class_list": "", "function": "Adapter protein which associates with tyrosine-phosphorylated growth factor receptors or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in ELK1-dependent transcriptional activation in response to activated Ras signaling., [UniProtKB, PubMed, PubMed, PubMed]; Molecular model of the first SRC homology 3 domain of Nck2., [RefSeq, PubMed]; This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; [CBL inhibits proliferation and invasion of breast cancer cells by ubiquitylation-mediated degradation of NCK2]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 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": "D3DVK1;Q9BWN9;Q9UIC3", "ec_number_list": "", "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0008093 cytoskeletal anchor activity;GO:0044877 protein-containing complex binding;GO:0030971 receptor tyrosine kinase binding;GO:0097110 scaffold protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0014069 postsynaptic density;GO:0012506 vesicle membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0008285 negative regulation of cell population proliferation;GO:0016477 cell migration;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "O43639-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IVL1-1", "uniprot_id": "NAV2_HUMAN", "mass": 268167.0, "length": 2488, "protein_name": "Neuron navigator 2", "gene_name": "NAV2", "organism": "Human", "refseq_name": "neuron navigator 2 isoform 3", "refseq_ac": "NP_001104488", "gene_names_uniprotkb": "NAV2; HELAD1; KIAA1419; POMFIL2; RAINB1; STEERIN2", "gene_names_refseq": "HELAD1; NAV2; POMFIL2; RAINB1; STEERIN2; UNC53H2", "protein_names_uniprotkb": "Neuron navigator 2; 3.6.4.12; Helicase APC down-regulated 1; Pore membrane and/or filament-interacting-like protein 2; Retinoic acid inducible in neuroblastoma 1; Steerin-2; Unc-53 homolog 2; unc53H2", "protein_names_refseq": "helicase, APC down-regulated 1; neuron navigator 2 isoform 3; pore membrane and/or filament-interacting-like protein 2; retinoic acid inducible gene in neuroblastoma 1; steerin-2; unc-53 homolog 2", "tax_id": 9606, "disease": "cerebellar hypoplasia (Disease Ontology:DOID:0070338)", "pathway": " (hsa:89797)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11904404;12062803;12079279;12214280;15158073;16964243;18669648;18726912;19615748;25576301;25645385;25892735;26758079;26992070;27600516;28643014;28832583;28834231;29237092;29242379;29391424;29393594;29557506;29671580;29769354;29789417;30059200;30379171;30524438;30620550;30997569;31154438;31492838;31602702;31844290;31848261;32157095;32161166;32488085;32574038;32897882;32938616;32983136;33091337;33392160;33537174;33592498;33717175;33931978;33968037;34087483;34171305;34185709;34405274;35051231;35218524;35254053;35318648;35513511;35580925;36010968;36241641;36284347;36581221;38152138;39531497;40596516", "class_list": "", "function": "A novel gene, termed HELAD1 (helicase, APC down-regulated 1) plays important role in colorectal carcinogenesis (HELAD1), [RefSeq, PubMed]; DNA hypermethylation is associated with invasive phenotype of malignant melanoma., [RefSeq, PubMed]; Identification of novel genes including NAV2 associated with isolated tall stature. Publication Status: Online-Only, [RefSeq, PubMed]; NAV2 positively modulates inflammatory response of fibroblast-like synoviocytes through activating Wnt/beta-catenin signaling pathway in rheumatoid arthritis., [RefSeq, PubMed]; Possesses 3' to 5' helicase activity and exonuclease activity (PubMed:12214280, PubMed:15158073). Involved in cytoskeleton organization (PubMed:35218524). Required for neurite outgrowth in response to stimulation by all-trans retinoic acid (atRA) (PubMed:18726912). Involved in neuronal development, specifically in the development of different sensory organs (PubMed:12214280, PubMed:15158073). Important for brain and cerebellar development (PubMed:35218524). Involved in the differentiation, migration and axonal extension of granule cells in the developing cerebellum (By similarity). Involved in the development of the glossopharyngeal cranial nerve IX and the vagus cranial nerve X, possibly by influencing neuronal cell elongation or survival; influencing the efficiency of the baroreceptor reflex response to changes in blood pressure (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Regulated by all-trans retinoic acid in neuroblastoma cells, [RefSeq, PubMed]; Study found that melanoma tissues showed an upregulated expression of NAV2 which correlated with poor prognosis of cutaneous melanoma. NAV2-mediated invasion of melanoma cells was driven by enhanced epithelial-mesenchymal transition, which was resulted from SNAI2 upregulation via the GSK-3beta/beta-catenin pathway., [RefSeq, PubMed]; This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 117, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 18, "disease_count": 1, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A6NEC1;Q8IVK3;Q8IVK4;Q8IVK5;Q8IVK6;Q8IVK7;Q8IVK8;Q8NHC9;Q8NHD0;Q8TDE9;Q8TDF0;Q8TEB3;Q96B30;Q9NUZ6;Q9NVM7;Q9P2C8", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0043138 3'-5' DNA helicase activity;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005856 cytoskeleton;GO:0030424 axon;GO:0043204 perikaryon", "go_biological_process": "GO:0007399 nervous system development;GO:0021695 cerebellar cortex development;GO:0022008 neurogenesis", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q8IVL1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05121-1", "uniprot_id": "PAI1_HUMAN", "mass": 45060.0, "length": 402, "protein_name": "Plasminogen activator inhibitor 1", "gene_name": "SERPINE1", "organism": "Human", "refseq_name": "plasminogen activator inhibitor 1 isoform 2 precursor", "refseq_ac": "NP_000593", "gene_names_uniprotkb": "SERPINE1; PAI1; PLANH1", "gene_names_refseq": "PAI-1; PAI1; PAI; PLANH1; SERPINE1", "protein_names_uniprotkb": "Plasminogen activator inhibitor 1; Endothelial plasminogen activator inhibitor; PAI-1; PAI; Serpin E1", "protein_names_refseq": "endothelial plasminogen activator inhibitor; plasminogen activator inhibitor 1 isoform 2 precursor; serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1; serpin E1; serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1", "tax_id": 9606, "disease": "peripheral artery disease (Disease Ontology:DOID:0050830); familial encephalopathy with neuroserpin inclusion bodies (Disease Ontology:DOID:0050831); sleep apnea (Disease Ontology:DOID:0050847); obstructive sleep apnea (Disease Ontology:DOID:0050848); glomerulosclerosis (Disease Ontology:DOID:0050851); renal fibrosis (Disease Ontology:DOID:0050855); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); stroke (Disease Ontology:DOID:0051061); ischemic colitis (Disease Ontology:DOID:0060181); thrombosis (Disease Ontology:DOID:0060903); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Coronavirus infectious disease (Disease Ontology:DOID:0080599); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); Graves ophthalmopathy (Disease Ontology:DOID:0081120); platelet-type bleeding disorder 10 (Disease Ontology:DOID:0111046); pleurisy (Disease Ontology:DOID:10247); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); disseminated intravascular coagulation (Disease Ontology:DOID:11247); adult respiratory distress syndrome (Disease Ontology:DOID:11394); sciatic neuropathy (Disease Ontology:DOID:11446); polycystic ovary syndrome (Disease Ontology:DOID:11612); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); portal vein thrombosis (Disease Ontology:DOID:11695); diabetic angiopathy (Disease Ontology:DOID:11713); Graves' disease (Disease Ontology:DOID:12361); retinopathy of prematurity (Disease Ontology:DOID:13025); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); Behcet's disease (Disease Ontology:DOID:13241); familial combined hyperlipidemia (Disease Ontology:DOID:13809); familial hypercholesterolemia (Disease Ontology:DOID:13810); polyneuropathy (Disease Ontology:DOID:1389); thoracic aortic aneurysm (Disease Ontology:DOID:14004); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); toxic shock syndrome (Disease Ontology:DOID:14115); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); retinal vein occlusion (Disease Ontology:DOID:1727); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); familial Mediterranean fever (Disease Ontology:DOID:2987); high grade glioma (Disease Ontology:DOID:3070); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); neurilemmoma (Disease Ontology:DOID:3192); coronary artery disease (Disease Ontology:DOID:3393); Noonan syndrome (Disease Ontology:DOID:3490); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); aortic aneurysm (Disease Ontology:DOID:3627); pulmonary fibrosis (Disease Ontology:DOID:3770); placental insufficiency (Disease Ontology:DOID:3891); systemic scleroderma (Disease Ontology:DOID:418); macular degeneration (Disease Ontology:DOID:4448); rhinitis (Disease Ontology:DOID:4483); liver cirrhosis (Disease Ontology:DOID:5082); ureteral obstruction (Disease Ontology:DOID:5199); pneumonia (Disease Ontology:DOID:552); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); myocardial infarction (Disease Ontology:DOID:5844); uveal melanoma (Disease Ontology:DOID:6039); pulmonary hypertension (Disease Ontology:DOID:6432); hematopoietic system disease (Disease Ontology:DOID:74); muscular atrophy (Disease Ontology:DOID:767); abdominal aortic aneurysm (Disease Ontology:DOID:7693); end stage renal disease (Disease Ontology:DOID:783); hyperthyroidism (Disease Ontology:DOID:7998); polycythemia (Disease Ontology:DOID:8432); lung disease (Disease Ontology:DOID:850); diabetic retinopathy (Disease Ontology:DOID:8947); amyloidosis (Disease Ontology:DOID:9120); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); congenital plasminogen activator inhibitor type 1 deficiency (MONDO:MONDO:0013227)", "pathway": " (hsa:5054); (R-HSA-114608); (R-HSA-1368108); (R-HSA-2173796); (R-HSA-3000178); (R-HSA-75205); (R-HSA-9769739); (R-HSA-9926550)", "pathway_count": 8, "publication_count": 228, "publication_id_list": "10022829;10022869;10026158;10199400;10339611;10368279;10391209;10673326;10731421;11007770;11013220;11018023;11035113;11084047;11162494;11238108;11241162;11259413;11274402;11384978;11424093;11427533;11518510;11833835;12007600;12052963;12130638;12150994;12225811;12406875;12446674;12738229;12907439;12917425;134998;1376317;1435334;14630798;14657019;14672706;14715956;15001579;15053742;15075323;15100235;15150273;15296743;15297306;1544908;15500444;15560782;15853774;16161994;1618828;16278212;16293224;16319104;16493581;16619025;16857194;16862142;1703436;1731226;17438144;17506785;17588949;17598008;17635713;17666018;17912461;1829461;18386027;1846368;18568018;18587630;1902833;19117638;19297154;1930190;19590037;19710929;19914168;19940119;20418909;20427285;2059554;20595680;2156852;21642437;2166055;21789315;21925150;21932952;21947232;22134916;22144186;22275377;22618708;2271516;22786881;22905912;23090970;2318848;23193360;23345538;23483454;23640497;2364322;23683607;2384594;24041930;2412224;24190977;2420006;24265642;2430793;2430969;2440681;24554904;24900876;2496749;2503541;2521625;2538457;2544876;25713144;25808697;25855704;2612914;27046084;2820474;28296156;28904123;29152572;2935528;29393594;29419409;29557506;2962641;2991279;3011081;3023326;3025016;3026837;30459171;30716301;30833945;3090045;30918026;3092219;3097076;31262782;3132455;31439947;31831667;31844290;31936902;32157095;32350084;32543734;3262512;32938616;32983136;33043033;33592498;33968037;34171305;34217213;34433824;35051231;35251023;35494241;36951953;37074911;3744129;37726033;37986328;3863104;38665916;38868940;39281671;39337713;39395807;39467628;6193777;6323392;6433976;6439184;6448849;6457647;7199524;7499257;7499434;7522053;7527058;7542669;7552714;7559467;7685013;7693733;7852349;7981125;8002934;8144529;8315383;8440685;8467233;8481516;8618898;8639781;8798654;8943283;9168821;9175705;9194591;9207454;9218519;9252349;9294172;9341124;9346959;9414276;9459334;9469622;9634700;9685393;9886297;9949188", "class_list": "", "function": "Glial-Cell-Line-Derived Neurotrophic Factor Promotes Glioblastoma Cell Migration and Invasion via the SMAD2/3-SERPINE1-Signaling Axis. Publication Status: Online-Only, [RefSeq, PubMed]; PAI-1 Regulates the Cytoskeleton and Intrinsic Stiffness of Vascular Smooth Muscle Cells., [RefSeq, PubMed]; Serine protease inhibitor. Inhibits TMPRSS7 (PubMed:15853774). Is a primary inhibitor of tissue-type plasminogen activator (PLAT) and urokinase-type plasminogen activator (PLAU). As PLAT inhibitor, it is required for fibrinolysis down-regulation and is responsible for the controlled degradation of blood clots (PubMed:17912461, PubMed:8481516, PubMed:9207454, PubMed:21925150). As PLAU inhibitor, it is involved in the regulation of cell adhesion and spreading (PubMed:9175705). Acts as a regulator of cell migration, independently of its role as protease inhibitor (PubMed:15001579, PubMed:9168821). It is required for stimulation of keratinocyte migration during cutaneous injury repair (PubMed:18386027). It is involved in cellular and replicative senescence (PubMed:16862142). Plays a role in alveolar type 2 cells senescence in the lung (By similarity). Is involved in the regulation of cementogenic differentiation of periodontal ligament stem cells, and regulates odontoblast differentiation and dentin formation during odontogenesis (PubMed:25808697, PubMed:27046084)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Suppressing Expression of SERPINE1/PAI1 Through Activation of GPER1 Reduces Progression of Vulvar Carcinoma., [RefSeq, PubMed]; The influence of 4G/5G polymorphism in the plasminogen-activator-inhibitor-1 promoter on COVID-19 severity and endothelial dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. The protein also functions as a component of innate antiviral immunity. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. [provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 80, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B7Z4S0;F8WD53", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0005102 signaling receptor binding;GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0031093 platelet alpha granule lumen", "go_biological_process": "GO:0097187 dentinogenesis;GO:1901331 positive regulation of odontoblast differentiation;GO:0035491 positive regulation of leukotriene production involved in inflammatory response;GO:0061044 negative regulation of vascular wound healing;GO:0001525 angiogenesis", "synthesized_glycan_count": 0, "hit_score": 25.2, "record_id": "P05121-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49796-3", "uniprot_id": "RGS3_HUMAN", "mass": 132336.0, "length": 1198, "protein_name": "Regulator of G protein signaling 3", "gene_name": "RGS3", "organism": "Human", "refseq_name": "regulator of G-protein signaling 3 isoform 2", "refseq_ac": "NP_001263189", "gene_names_uniprotkb": "RGS3", "gene_names_refseq": "C2PA; RGP3; RGS3", "protein_names_uniprotkb": "Regulator of G protein signaling 3; RGP3; RGS3", "protein_names_refseq": "regulator of G-protein signaling 3 isoform 2; regulator of G-protein signalling 3", "tax_id": 9606, "disease": "lesion of sciatic nerve (Disease Ontology:DOID:12528); bladder disease (Disease Ontology:DOID:365)", "pathway": " (hsa:5998); (R-HSA-416476); (R-HSA-418594)", "pathway_count": 3, "publication_count": 76, "publication_id_list": "10191087;10567430;10727532;10749886;10861009;11007482;11015615;11294858;11742120;11753430;12036301;12120503;15951850;16182515;16268778;16339447;16634148;16754659;16884686;16923326;17487921;18434541;18515384;18577758;18936096;1905813;23186163;23481700;24129315;2534964;25576301;2748346;27862975;2834384;2841328;28514659;28832583;28904123;29242379;29393594;29557506;29632046;29786170;29789417;30315122;30379171;30429286;3086311;31154438;31844290;31848261;32157095;32161166;32350084;32357974;32938616;33592498;33912179;33968037;33981976;34357683;35051231;35580925;36214767;36318984;37938771;38253038;40914422;7937899;8015379;8406495;8602223;8664309;9305846;9770463;9858594", "class_list": "", "function": "Down-regulates signaling from heterotrimeric G proteins by increasing the GTPase activity of the alpha subunits, thereby driving them into their inactive GDP-bound form. Down-regulates G protein-mediated release of inositol phosphates and activation of MAP kinases., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Pseudogene UBE2MP1 derived transcript enhances in vitro cell proliferation and apoptosis resistance of hepatocellular carcinoma cells through miR-145-5p/RGS3 axis., [RefSeq, PubMed]; RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NHA0;A8K0V1;B3KUB2;Q5VXB8;Q5VXC1;Q5VZ05;Q5VZ06;Q6ZRM5;Q8IUQ1;Q8NC47;Q8NFN4;Q8NFN5;Q8NFN6;Q8TD59;Q8TD68;Q8WV02;Q8WXA0", "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_biological_process": "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": 8.2, "record_id": "P49796-3", "record_type": "protein" }, { "uniprot_canonical_ac": "O75886-1", "uniprot_id": "STAM2_HUMAN", "mass": 58164.0, "length": 525, "protein_name": "Signal transducing adapter molecule 2", "gene_name": "STAM2", "organism": "Human", "refseq_name": "signal transducing adapter molecule 2", "refseq_ac": "NP_005834", "gene_names_uniprotkb": "STAM2; HBP", "gene_names_refseq": "Hbp; STAM2A; STAM2B; STAM2", "protein_names_uniprotkb": "Signal transducing adapter molecule 2; Hrs-binding protein; STAM-2", "protein_names_refseq": "HSE1 homolog; Hrs-binding protein; STAM-2; STAM-like protein containing SH3 and ITAM domains 2; signal transducing adapter molecule 2; signal transducing adaptor molecule (SH3 domain and ITAM motif) 2", "tax_id": 9606, "disease": "polycystic kidney disease (Disease Ontology:DOID:0080322)", "pathway": " (hsa:10254); (R-HSA-182971); (R-HSA-5689880); (R-HSA-6807004); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8875360); (R-HSA-9013420); (R-HSA-917729)", "pathway_count": 9, "publication_count": 396, "publication_id_list": "10097102;10436022;10444327;10514377;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10652316;10766823;10769163;10899310;10953014;10982817;10983987;10993906;11071885;11076969;11081636;11082044;11230166;11231140;11239472;11247302;11454741;11459829;11470803;11516654;11517213;11532990;11563910;11566882;11577110;11588219;11687594;11741535;11823423;11877457;11877461;11889126;11894095;11894096;11919637;11923872;11927540;11988742;12057195;12072436;12086608;12213833;12218189;12221107;12234920;12234931;12244174;12429842;12447393;12451172;12464600;12475979;12551915;12593795;12593796;12686592;12717448;12847086;12917689;12917691;12944396;12952949;12958364;1317852;14505571;14555962;14581451;14617351;14622578;14622579;14624836;14661020;14662753;14726597;14985334;15021893;15053880;15075231;15117950;15123609;15134832;15144186;15218037;15252009;15260957;15318165;15339664;15350535;1535555;15465819;15473838;15475003;15502812;15502813;15509564;15556869;15649145;15671180;15701692;15703209;15728179;15802264;15828871;15882967;15895077;15916959;15916963;15962011;16103228;16113677;16159959;16214042;16215232;16227611;16326391;16371348;16407834;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16901786;16903783;16964248;16973552;17018281;17035995;17158794;17178829;17267500;17290220;17360967;17389395;17443180;17456551;17494869;17504809;17512409;17522231;17540576;17609109;17662939;17681954;17713526;17762867;17765681;17873522;17978091;17980597;17981138;18032517;18093523;18166656;18172164;18199683;18388313;18467330;1847920;18626516;18632802;18636086;18775314;18790740;18819912;18819921;18981233;19015242;19054389;19064640;19092055;19109251;19135894;19140243;19188362;19287005;19296720;19363159;19398555;19424180;19458185;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19814798;19838211;19853559;19874889;19900460;19901323;19910467;20033059;20059951;20096447;20211604;20228808;20231386;20351096;20368735;20428113;20448150;20501646;20547754;20826345;20946875;21102408;2115402;21187331;21239494;21278753;21316588;21362556;21376233;21445324;21482805;21499258;21508312;21565175;21571647;21596315;21613550;21659512;21757351;21779028;21841790;21849505;21883765;21927000;21927001;21962517;21962518;21995445;22029577;22085928;22099461;22118466;22128162;22216260;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23159851;23208509;23297414;23395819;23481700;23486064;23536704;23823722;23824326;23825189;23861397;23891661;24056413;24130457;24186068;24260525;24384571;24493797;24581490;24680432;24715725;24746795;24789820;24828152;24896179;24966051;25107275;25197364;25263444;25303366;25305019;25341920;25502872;25576301;25578727;25645385;25892735;26042225;26403691;26598620;26829388;26992070;27600516;28228285;28467828;28832583;2890644;29242379;29314611;29493099;29508533;29557506;29632711;29786170;30429286;30626607;30833945;31154438;31217245;31373491;31492838;31844290;31848261;31871319;32157095;32350084;32387766;32488085;32502341;32737221;32938616;32983136;33298915;33592498;33778841;33912179;33936100;33968037;33981976;34019948;34087483;34171305;3417785;34357683;34405274;34509645;34725712;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36580660;37938771;38665916;39060946;39531497;40136647;40307207;6146630;7541030;7542744;7569928;7578059;7657591;7822302;7877694;8524399;8552632;8553074;8621719;8837779;9092476;9100026;9169477;9303539;9427626;9428629;9635431;9723620;9736607;9812899", "class_list": "", "function": "GRASLND regulates melanoma cell progression by targeting the miR-218-5p/STAM2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in intracellular signal transduction mediated by cytokines and growth factors. Upon IL-2 and GM-CSL stimulation, it plays a role in signaling leading to DNA synthesis and MYC induction. May also play a role in T-cell development. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with HGS (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as a sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes (By similarity)., [UniProtKB]; STAM2 knockdown inhibits proliferation, migration, and invasion by affecting the JAK2/STAT3 signaling pathway in gastric cancer., [RefSeq, PubMed]; The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K8A0;D3DPA1;Q7LDQ0;Q9UF58", "ec_number_list": "", "go_molecular_function": "GO:0035091 phosphatidylinositol binding;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0033565 ESCRT-0 complex;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031901 early endosome membrane;GO:0030139 endocytic vesicle", "go_biological_process": "GO:0036258 multivesicular body assembly;GO:0043328 protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;GO:0007165 signal transduction;GO:0016236 macroautophagy;GO:0090148 membrane fission", "synthesized_glycan_count": 0, "hit_score": 40.1, "record_id": "O75886-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13049-1", "uniprot_id": "TRI32_HUMAN", "mass": 71989.0, "length": 653, "protein_name": "E3 ubiquitin-protein ligase TRIM32", "gene_name": "TRIM32", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM32", "refseq_ac": "NP_001093149", "gene_names_uniprotkb": "TRIM32; HT2A", "gene_names_refseq": "BBS11; HT2A; LGMD2H; LGMDR8; TATIP; TRIM32", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM32; 2.3.2.27; 72 kDa Tat-interacting protein; RING-type E3 ubiquitin transferase TRIM32; Tripartite motif-containing protein 32; Zinc finger protein HT2A", "protein_names_refseq": "72 kDa Tat-interacting protein; E3 ubiquitin-protein ligase TRIM32; RING-type E3 ubiquitin transferase TRIM32; TAT-interactive protein, 72-KD; tripartite motif-containing protein 32; zinc-finger protein HT2A", "tax_id": 9606, "disease": "Bardet-Biedl syndrome 11 (Disease Ontology:DOID:0110133); autosomal recessive limb-girdle muscular dystrophy type 2H (Disease Ontology:DOID:0110282); Bardet-Biedl syndrome (Disease Ontology:DOID:1935); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:22954); (R-HSA-3134975); (R-HSA-983168)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "11062501;11237011;11350924;11822024;12646216;14734113;15224091;15224092;15571818;16595681;16606853;16849449;16954532;17994549;18452278;18662542;18669648;19028597;19349376;19352404;19452197;19489725;19851334;19874575;19940261;20068231;21074459;21344540;21628460;21862588;22388039;22500027;2261476;22745133;23186163;23222971;23444366;23481700;26394407;26992070;27600516;27862975;27920218;28052117;28228285;28832583;28834231;28898289;28904123;29242379;29769354;29786170;30429286;30779550;31123703;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32488085;32918979;32983136;33912179;33936100;33968037;34171305;34357683;34888944;34932366;35051231;35154160;35251023;35580925;36010968;36284347;37543647;37943659;38317520;38717113;38822901;40793792;7778269;9380723;9668046", "class_list": "", "function": "(Microbial infection) May play a significant role in mediating the biological activity of the HIV-1 Tat protein in vivo (PubMed:7778269). Binds specifically to the activation domain of HIV-1 Tat and can also interact with the HIV-2 and EIAV Tat proteins in vivo (PubMed:7778269)., [UniProtKB, PubMed]; Adipose stem cell-derived exosomes promote high glucose-induced wound healing by regulating the TRIM32/STING axis. Publication Status: Online-Only, [RefSeq, PubMed]; Degradation of TRIM32 is induced by RTA for Kaposi's sarcoma-associated herpesvirus lytic replication., [RefSeq, PubMed]; E3 ubiquitin ligase that plays a role in various biological processes including neural stem cell differentiation, innate immunity, inflammatory resonse and autophagy (PubMed:19349376, PubMed:31123703, PubMed:40793792). Plays a role in virus-triggered induction of IFN-beta and TNF by mediating the ubiquitination of STING1. Mechanistically, targets STING1 for 'Lys-63'-linked ubiquitination which promotes the interaction of STING1 with TBK1 (PubMed:22745133). Regulates bacterial clearance and promotes autophagy in Mycobacterium tuberculosis-infected macrophages (PubMed:37543647). Negatively regulates TLR3/4-mediated innate immune and inflammatory response by triggering the autophagic degradation of TICAM1 in an E3 activity-independent manner (PubMed:28898289). Plays an essential role in oxidative stress induced cell death by inducing loss of transmembrane potential and enhancing mitochondrial reactive oxygen species (ROS) production during oxidative stress conditions (PubMed:32918979). Ubiquitinates XIAP and targets it for proteasomal degradation (PubMed:21628460). Ubiquitinates DTNBP1 (dysbindin) and promotes its degradation (PubMed:19349376). May ubiquitinate BBS2 (PubMed:22500027). Ubiquitinates PIAS4/PIASY and promotes its degradation in keratinocytes treated with UVB and TNF (By similarity). Also acts as a regulator of autophagy by mediating formation of unanchored 'Lys-63'-linked polyubiquitin chains that activate ULK1: interaction with AMBRA1 is required for ULK1 activation (PubMed:31123703). Positively regulates dendritic branching by promoting ubiquitination and subsequent degradation of the epigenetic factor CDYL (PubMed:34888944). Under metabolic stress and phosphorylation by CHK2, mediates 'Lys-63'-linked ubiquitination of ATG7 at 'Lys-45' to initiate autophagy (PubMed:37943659)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Enhanced translocation of TRIM32 to mitochondria sensitizes dopaminergic neuronal cells to apoptosis during stress conditions in Parkinson's disease., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [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": 7, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 6, "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": "Q9NQP8", "ec_number_list": "2.3.2.24;2.3.2.23;2.3.2.26;2.3.2.27;2.3.2.31;2.3.2.-;6.2.1.-;2.3.2.34;2.3.2.32;3.6.4.-;2.3.2.25;2.3.2.36;2.7.11.1", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005813 centrosome", "go_biological_process": "GO:0032897 negative regulation of viral transcription;GO:1902018 negative regulation of cilium assembly;GO:0044790 suppression of viral release by host;GO:0000045 autophagosome assembly;GO:0006979 response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q13049-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O96017-1", "uniprot_id": "CHK2_HUMAN", "mass": 60915.0, "length": 543, "protein_name": "Serine/threonine-protein kinase Chk2", "gene_name": "CHEK2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase Chk2 isoform c", "refseq_ac": "NP_001005735", "gene_names_uniprotkb": "CHEK2; CDS1; CHK2; RAD53", "gene_names_refseq": "CDS1; CHEK2; CHK2; HuCds1; LFS2; PP1425; RAD53; TPDS4; hCds1", "protein_names_uniprotkb": "Serine/threonine-protein kinase Chk2; 2.7.11.1; CHK2 checkpoint homolog; Cds1 homolog; Checkpoint kinase 2; Hucds1; hCds1", "protein_names_refseq": "CHK2 checkpoint homolog; cds1 homolog; checkpoint-like protein CHK2; serine/threonine-protein kinase CHK2; serine/threonine-protein kinase Chk2 isoform c", "tax_id": 9606, "disease": "female breast cancer (Disease Ontology:DOID:0050671); Li-Fraumeni syndrome 2 (Disease Ontology:DOID:0111504); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); male breast cancer (Disease Ontology:DOID:1614); embryonal carcinoma (Disease Ontology:DOID:3308); osteosarcoma (Disease Ontology:DOID:3347); seminoma (Disease Ontology:DOID:4440); congestive heart failure (Disease Ontology:DOID:6000); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:11200); (R-HSA-5693565); (R-HSA-6804756); (R-HSA-6804757); (R-HSA-6804760); (R-HSA-69473); (R-HSA-69541); (R-HSA-69601); (R-HSA-75035)", "pathway_count": 9, "publication_count": 467, "publication_id_list": "10097108;10330186;10435585;10435622;10500146;10518217;10550055;10570149;10604467;10608892;10617473;10673500;10673501;10710310;10722742;10724175;10744722;10766245;10802669;10827953;10866324;10884347;10959836;10973490;10980695;10980696;11025670;11053450;11085506;11114888;11237011;11239457;11298456;11359766;11390408;11447225;11461078;11504915;11511361;11511362;11546806;11551930;11571274;11573085;11668173;11719428;11740489;11746983;11780126;11893489;11901158;11923872;11927591;11934988;11983168;12024051;12049740;12052256;12064478;12094328;12234927;12242661;12364621;12386164;12393879;12399544;12402044;12447382;12447390;12454775;12485996;12493754;12533788;12607003;12607004;12607005;12610780;12637545;12676583;12676925;12697768;12702766;12717439;12759351;12766774;12773400;12792649;12805407;12810724;12832489;12851404;12855706;12890688;12914926;12963847;14507994;14560035;14603323;14612911;14681206;14702041;14970866;15048074;15053879;15053880;15064416;15087378;15095295;15140942;15201865;15213307;15239132;15279782;15279791;15322239;15342622;1535557;15361830;15361851;15361853;15448695;15492928;15498874;15525938;15533933;15535844;15618221;15649950;15668230;15700044;15784679;15788536;15803365;15810020;15818573;15866171;15876876;15916963;15963507;16024600;1614537;16150728;16163388;16311512;16322218;16322561;16377563;16402859;16415881;16427009;16456034;16461339;16474402;16481012;16596250;16651405;16705183;16741947;16794575;16798742;16816021;16828850;16845383;16940182;16941491;16982735;17101782;17106448;17108107;17108971;17121812;17170761;17236549;17349958;17363488;17380128;17513615;17525332;17525340;17553757;17591690;17653574;17661168;17671118;17685927;17707234;17715138;17721994;17848578;17940507;18001824;18001825;18006705;18058223;18077395;18167338;18317453;18443292;18477386;18480045;18490454;18644861;18706089;18728393;18762365;18787700;18812180;18833288;18834326;18930998;18948271;18957425;18985806;18996005;19001859;19011621;19030985;19092802;19117993;19121998;19151762;19164942;19176521;19203578;19203579;19234442;19261749;19330022;19351884;19377277;19390600;19411857;19451272;19609724;19658174;19734889;19756449;19782031;19798429;19816404;19838211;19876921;19965871;20016603;20023648;20118233;20126263;20160490;20223004;20223018;20348946;20351172;20364141;20406977;20424615;20438709;20542099;20599567;20637859;20637980;20643596;20658728;20713061;20713355;20870725;20959462;21049466;21102523;21147465;21239475;21252624;21282113;21293379;21310354;21317932;21338495;21376736;21390062;21618645;21624128;21625555;21730132;21730163;21744992;21765476;21772273;21986495;22004065;22170260;22234877;22266820;22294770;22312557;22362889;22373579;22508508;22521562;22589537;22589545;22623962;22799331;22808196;22901170;22908299;22980979;23000554;23013471;23107771;23301498;23383325;23485397;23598415;23666059;23676219;23690919;23705030;23855452;23977391;24145406;24153426;24190430;24366607;24415942;24492479;24498068;24553354;24667604;24714562;24758542;24792164;24798733;24812435;24825908;24844881;24874608;24882580;25111195;25361978;25418920;25527123;25535901;25576301;25619829;25875766;25884806;25886177;25895498;26154972;26158765;26333122;26333361;26416514;26431963;26441204;26442630;26485758;26542114;26629066;26714930;26751069;26751770;26919204;26929905;26991782;26992070;27029031;27076856;27125496;27600516;27767095;27846572;27888802;27920218;27991505;28038466;28049532;28094252;28103869;28228285;28259974;28535155;28539821;28680382;28832583;28834231;28852018;28967905;29062040;29242379;29340034;29399146;29444163;29493099;29563987;29632046;29643855;29741650;29761796;29786170;30054569;30245854;30272263;30273361;30304835;30315122;30337689;30473536;30483783;30516086;30524438;30900384;31209362;31269698;31759252;31777420;31844290;31848261;31911943;32001251;32157095;32357974;32387766;32432260;32479542;32502341;32741974;32752095;32883962;32897882;32938616;32942996;32983136;33500399;33537174;33607997;33690219;33717175;33912179;33968195;34185709;34561969;35051231;35132862;35580925;35663228;35851582;35999268;36010968;36215666;37943659;38828701;38855188;39146382;39478560;7686617;7784084;7957050;8319905;8479525;8887688;8944023;8954786;9168116;9488723;9836640;9889122;9925639", "class_list": "", "function": "(Microbial infection) Phosphorylates herpes simplex virus 1/HHV-1 protein ICP0 and thus activates its SUMO-targeted ubiquitin ligase activity., [UniProtKB, PubMed]; Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families., [RefSeq, PubMed]; Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2. Publication Status: Online-Only, [RefSeq, PubMed]; In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]., [RefSeq]; LINC00982-encoded protein PRDM16-DT regulates CHEK2 splicing to suppress colorectal cancer metastasis and chemoresistance. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cell cycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectors preferentially at the consensus sequence [L-X-R-X-X-S/T] (PubMed:37943659). Regulates cell cycle checkpoint arrest through phosphorylation of CDC25A, CDC25B and CDC25C, inhibiting their activity. Inhibition of CDC25 phosphatase activity leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. May also phosphorylate NEK6 which is involved in G2/M cell cycle arrest. Regulates DNA repair through phosphorylation of BRCA2, enhancing the association of RAD51 with chromatin which promotes DNA repair by homologous recombination. Also stimulates the transcription of genes involved in DNA repair (including BRCA2) through the phosphorylation and activation of the transcription factor FOXM1. Regulates apoptosis through the phosphorylation of p53/TP53, MDM4 and PML. Phosphorylation of p53/TP53 at 'Ser-20' by CHEK2 may alleviate inhibition by MDM2, leading to accumulation of active p53/TP53. Phosphorylation of MDM4 may also reduce degradation of p53/TP53. Also controls the transcription of pro-apoptotic genes through phosphorylation of the transcription factor E2F1. Tumor suppressor, it may also have a DNA damage-independent function in mitotic spindle assembly by phosphorylating BRCA1. Its absence may be a cause of the chromosomal instability observed in some cancer cells. Promotes the CCAR2-SIRT1 association and is required for CCAR2-mediated SIRT1 inhibition (PubMed:25361978). Under oxidative stress, promotes ATG7 ubiquitination by phosphorylating the E3 ubiquitin ligase TRIM32 at 'Ser-55' leading to positive regulation of the autophagosme assembly (PubMed:37943659)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Tumour-intrinsic PDL1 signals regulate the Chk2 DNA damage response in cancer cells and mediate resistance to Chk1 inhibitors. 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": 50, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 73, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K3Y9;B7ZBF3;B7ZBF4;B7ZBF5;Q6QA03;Q6QA04;Q6QA05;Q6QA06;Q6QA07;Q6QA08;Q6QA10;Q6QA11;Q6QA12;Q6QA13;Q9HBS5;Q9HCQ8;Q9UGF0;Q9UGF1", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.3.2.27;2.7.11.13;2.3.2.26;2.1.1.357;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;3.1.3.48;2.3.1.-;2.7.1.153;2.7.1.137;3.4.19.-;2.7.11.26;2.7.1.154;3.1.-.-;2.7.11.31;2.3.2.23;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016605 PML body", "go_biological_process": "GO:0044773 mitotic DNA damage checkpoint signaling;GO:0006351 DNA-templated transcription;GO:0006468 protein phosphorylation;GO:0051301 cell division;GO:0090307 mitotic spindle assembly", "synthesized_glycan_count": 0, "hit_score": 47.0, "record_id": "O96017-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q00005-1", "uniprot_id": "2ABB_HUMAN", "mass": 51710.0, "length": 443, "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform", "gene_name": "PPP2R2B", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform g", "refseq_ac": "NP_001258828", "gene_names_uniprotkb": "PPP2R2B", "gene_names_refseq": "B55BETA; PP2AB55BETA; PP2ABBETA; PP2APR55BETA; PP2APR55B; PPP2R2B; PR2AB55BETA; PR2ABBETA; PR2APR55BETA; PR52B; PR55-BETA; PR55BETA; SCA12", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform; PP2A subunit B isoform B55-beta; PP2A subunit B isoform PR55-beta; PP2A subunit B isoform R2-beta; PP2A subunit B isoform beta", "protein_names_refseq": "protein phosphatase 2, regulatory subunit B, beta; serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform g", "tax_id": 9606, "disease": "spinocerebellar ataxia 12 (Disease Ontology:DOID:0050962); Alzheimer's disease (Disease Ontology:DOID:10652); autosomal dominant cerebellar ataxia (Disease Ontology:DOID:1441); breast cancer (Disease Ontology:DOID:1612); systemic lupus erythematosus (Disease Ontology:DOID:9074); brain disease (Disease Ontology:DOID:936)", "pathway": " (hsa:5521)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10581021;11237011;1849734;25356899;25816751;26496226;28832583;28904123;31154438;32357974;34019948;35051231;37735923;37938771;38409085", "class_list": "", "function": "Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12., [RefSeq, PubMed]; Comprehensive analysis of mitochondria-related genes indicates that PPP2R2B is a novel biomarker and promotes the progression of bladder cancer via Wnt signaling pathway. Erratum:[Biol Direct. 2024 Apr 18;19(1):27. doi: 10.1186/s13062-024-00474-1. PMID: 38637864] Publication Status: Online-Only, [RefSeq, PubMed]; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment. Within the PP2A holoenzyme complex, isoform 2 is required to promote proapoptotic activity (By similarity). Isoform 2 regulates neuronal survival through the mitochondrial fission and fusion balance (By similarity)., [UniProtKB]; The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NEJ2;A8K102;B3KPD0;B7Z2F2;B7Z304;D3DQF7;D3DQF8;G3V149", "ec_number_list": "", "go_molecular_function": "GO:0019888 protein phosphatase regulator activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0000159 protein phosphatase type 2A complex", "go_biological_process": "GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q00005-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13443-1", "uniprot_id": "ADAM9_HUMAN", "mass": 90556.0, "length": 819, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 9", "gene_name": "ADAM9", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 9 precursor", "refseq_ac": "NP_003807", "gene_names_uniprotkb": "ADAM9; KIAA0021; MCMP; MDC9; MLTNG", "gene_names_refseq": "ADAM9; CORD9; MCMP; MDC9; Mltng", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 9; 3.4.24.-; ADAM 9; Cellular disintegrin-related protein; Meltrin-gamma; Metalloprotease/disintegrin/cysteine-rich protein 9; Myeloma cell metalloproteinase", "protein_names_refseq": "ADAM metallopeptidase domain 9 (meltrin gamma); cellular disintegrin-related protein; cone rod dystrophy 9; disintegrin and metalloproteinase domain-containing protein 9 precursor; disintegrin and metalloproteinase domain-containing protein 9; metalloprotease/disintegrin/cysteine-rich protein 9; myeloma cell metalloproteinase", "tax_id": 9606, "disease": "cone-rod dystrophy 9 (Disease Ontology:DOID:0111020); Alzheimer's disease (Disease Ontology:DOID:10652); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991)", "pathway": " (hsa:8754); (R-HSA-1442490)", "pathway_count": 2, "publication_count": 125, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10049780;10531379;10551873;10809722;11013208;11119712;11237011;11577169;11927537;12054541;12579531;15005656;15257288;15950618;16825197;1704217;17081983;17088321;18083107;18578522;18622425;18669648;18767875;19409519;19651622;19664994;19901323;2005102;20068231;21081667;21593211;2169335;21935455;22241472;22382088;2253219;23090970;23186163;23481700;23584533;24190977;24366607;24715725;2537292;2548603;25502872;2551898;25576301;26154972;26992070;27397612;27726376;27846572;27920218;28063628;28228285;2834383;2845110;28467828;28514659;28649982;28832583;28834231;29242379;29393594;29557506;29632046;29632711;29741879;29786170;3038863;31217245;31611695;31844290;31848261;32157095;3223920;32265295;32350084;32938616;32983136;33043033;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34019948;34078123;34171305;34357683;34846842;35051231;35154160;35251023;35254053;35289036;35561310;35580925;36215666;36778124;37074911;38176298;38253038;38665916;38755212;39488509;40596516;6258630;6270089;6694361;7890717;8463259;8576151;8647900;8809033;8920930;8999957;9016778;9092507;9651395", "class_list": "", "function": "ADAM9 deubiquitination induced by USP22 suppresses proliferation, migration, invasion, and epithelial-mesenchymal transition of trophoblast cells in preeclampsia., [RefSeq, PubMed]; ADAM9 promotes type I interferon-mediated innate immunity during encephalomyocarditis virus infection. Publication Status: Online-Only, [RefSeq, PubMed]; Deciphering the oncogenic potential of ADAM9 in hepatocellular carcinoma through bioinformatics and experimental approaches. Publication Status: Online-Only, [RefSeq, PubMed]; May act as alpha-secretase for amyloid precursor protein (APP)., [UniProtKB, PubMed]; Metalloprotease that cleaves and releases a number of molecules with important roles in tumorigenesis and angiogenesis, such as TEK, KDR, EPHB4, CD40, VCAM1 and CDH5. May mediate cell-cell, cell-matrix interactions and regulate the motility of cells via interactions with integrins., [UniProtKB, UniProtKB]; The ADAM9/WISP-1 axis cooperates with osteoblasts to stimulate primary prostate tumor growth and metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]., [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": 5, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 26, "disease_count": 7, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "B7ZLN7;Q10718;Q8NFM6", "ec_number_list": "3.4.24.81;3.4.24.86;3.4.24.-", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0005178 integrin binding;GO:0008237 metallopeptidase activity;GO:0017124 SH3 domain binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006509 membrane protein ectodomain proteolysis;GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway;GO:0016477 cell migration;GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q13443-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75077-1", "uniprot_id": "ADA23_HUMAN", "mass": 91926.0, "length": 832, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 23", "gene_name": "ADAM23", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 23 isoform 1 preproprotein", "refseq_ac": "NP_003803", "gene_names_uniprotkb": "ADAM23; MDC3", "gene_names_refseq": "ADAM23; MDC-3; MDC3", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 23; ADAM 23; MDC-3; Metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3", "protein_names_refseq": "disintegrin and metalloproteinase domain-containing protein 23 isoform 1 preproprotein; disintegrin and metalloproteinase domain-containing protein 23; metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:8745); (R-HSA-5682910)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10749942;11237011;14697522;15862898;16094384;16103878;16990550;17387609;18628660;18974846;19089928;20162351;20220021;20461023;21829378;23584533;24715725;26375851;26992070;27600516;28228285;28832583;29557506;31844290;32157095;32350084;32488085;33296662;33592498;33717175;34171305;35051231;35154160;37074911;37217939;9693107", "class_list": "", "function": "ADAM23 is frequently silenced in gastric cancers by homozygous deletion or aberrant promoter methylation., [RefSeq, PubMed]; ADAM23 may be down-regulated by aberrant promoter hypermethylation during the progression of colorectal cancer., [RefSeq, PubMed]; Endocytosis of the non-catalytic ADAM23: Recycling and long half-life properties., [RefSeq, PubMed]; May play a role in cell-cell and cell-matrix interactions. This is a non-catalytic metalloprotease-like protein., [UniProtKB]; This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013]., [RefSeq]; Together, these results indicate that ADAM23 down-regulation by methylation in brain tumors is a rare event and it may help explain why brain tumor metastases are rarely found elsewhere in the body., [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": 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": 2, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A2RU59", "ec_number_list": "", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0005178 integrin binding;GO:0008237 metallopeptidase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0042734 presynaptic membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0006508 proteolysis;GO:0007155 cell adhesion;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "O75077-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95336-1", "uniprot_id": "6PGL_HUMAN", "mass": 27547.0, "length": 258, "protein_name": "6-phosphogluconolactonase", "gene_name": "PGLS", "organism": "Human", "refseq_name": "6-phosphogluconolactonase", "refseq_ac": "NP_036220", "gene_names_uniprotkb": "PGLS", "gene_names_refseq": "6PGL; HEL-S-304; PGLS", "protein_names_uniprotkb": "6-phosphogluconolactonase; 3.1.1.31; 6PGL", "protein_names_refseq": "6-phosphogluconolactonase; epididymis secretory protein Li 304; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:25796); (R-HSA-71336)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10518023;10869557;11237011;11283793;14988808;17585908;17804405;18186520;18560757;18775706;19608861;20068231;20166139;20923965;21209280;22682222;23301498;23481700;24275569;25229427;25418920;2581946;26992070;27920218;28228285;28510447;28514659;28832583;28904123;29351928;29508533;29557506;29632046;30315122;30573663;31092671;31530632;31844290;32161166;32265295;32350084;32387766;32870666;32938616;33298915;33912179;33968037;34229054;34357683;34509645;35051231;35154160;35251023;35580925;38665916;3932573;3994686;40596516;40914422;7396409;8300619;9357955;9920387", "class_list": "", "function": "Hydrolysis of 6-phosphogluconolactone to 6-phosphogluconate., [UniProtKB, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.1.1.31;1.1.1.47;1.1.1.363", "go_molecular_function": "GO:0017057 6-phosphogluconolactonase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006098 pentose-phosphate shunt;GO:0009051 pentose-phosphate shunt, oxidative branch", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "O95336-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43768-1", "uniprot_id": "ENSA_HUMAN", "mass": 13389.0, "length": 121, "protein_name": "Alpha-endosulfine", "gene_name": "ENSA", "organism": "Human", "refseq_name": "alpha-endosulfine isoform 3", "refseq_ac": "NP_004427", "gene_names_uniprotkb": "ENSA", "gene_names_refseq": "ARPP-19e; ENSA", "protein_names_uniprotkb": "Alpha-endosulfine; ARPP-19e", "protein_names_refseq": "alpha-endosulfine isoform 3", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2029); (R-HSA-2465910)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "10.1038/emboj.2013.79;10480622;11237011;11771735;14728986;14728987;16600872;17016520;17081983;17287340;17893145;17924679;18088087;18973346;19651622;20068231;20166139;21164013;21164014;21406692;21444715;22354989;23186163;23584533;24391510;24397554;24714562;24715725;25576301;25645385;25892735;26375851;26653855;26728094;26811146;27551054;27600516;27889260;27920218;28218747;28785014;28832583;29242379;29314611;29393594;29437277;29485866;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30379171;30429286;31154438;31222486;31373491;31844290;31848261;32085646;32157095;32350084;32357974;32454406;32488085;32897882;32983136;33141586;33298915;33592498;33717175;34087483;34185709;34346186;35251023;35580925;36215666;36284347;40596516;9653196", "class_list": "", "function": "Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa. Erratum:[EBioMedicine. 2022 Mar;77:103913. doi: 10.1016/j.ebiom.2022.103913. PMID: 35248995], [RefSeq, PubMed]; Interaction mechanism of endogenous PP2A inhibitor protein ENSA with PP2A., [RefSeq, PubMed]; Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; Taken together our results suggest a hierarchy of phosphatases coordinating Greatwall, Ensa/ARPP19 and Cdk substrate dephosphorylation during mitotic exit. Erratum:[PLoS Genet. 2014 Feb;10(2):e1004259], [RefSeq, PubMed]; The considerably decreased alpha-endosulfine could result in the continuous opening of K(ATP) channels and the subsequent decrease of neurotransmitters release associated with cognition in Down Syndrome., [RefSeq, PubMed]; The extended S phase in Ensa-depleted cells is completely rescued by the overexpression of Treslin. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]., [RefSeq]; We mapped ENSA in silico to chromosome 1q21 near a confirmed type 2 diabetes susceptibility locus, and derived the genomic structure of four exons and three introns., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "reported_phosphosites": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "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": "A8K1Z9;E9PB69;Q5T5H2;Q68D48;Q6FHW0;Q6IAM4;Q6NUL2;Q6VUC6;Q6VUC7;Q6VUC8;Q6VUC9;Q6VUD0;Q6VUD1;Q9NRZ0", "ec_number_list": "", "go_molecular_function": "GO:0019870 potassium channel inhibitor activity;GO:0005102 signaling receptor binding;GO:0019888 protein phosphatase regulator activity;GO:0051721 protein phosphatase 2A binding;GO:0019212 phosphatase inhibitor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0007584 response to nutrient;GO:0051301 cell division;GO:0000086 G2/M transition of mitotic cell cycle;GO:0050796 regulation of insulin secretion", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "O43768-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H845-1", "uniprot_id": "ACAD9_HUMAN", "mass": 68760.0, "length": 621, "protein_name": "Complex I assembly factor ACAD9, mitochondrial", "gene_name": "ACAD9", "organism": "Human", "refseq_name": "complex I assembly factor ACAD9, mitochondrial isoform 1", "refseq_ac": "NP_054768", "gene_names_uniprotkb": "ACAD9", "gene_names_refseq": "ACAD9; MC1DN20; NPD002", "protein_names_uniprotkb": "Complex I assembly factor ACAD9, mitochondrial; 1.3.8.7; 1.3.8.8; ACAD-9; Acyl-CoA dehydrogenase family member 9", "protein_names_refseq": "acyl-Coenzyme A dehydrogenase family, member 9; complex I assembly factor ACAD9, mitochondrial isoform 1; complex I assembly factor ACAD9, mitochondrial; very-long-chain acyl-CoA dehydrogenase VLCAD", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 20 (Disease Ontology:DOID:0112072)", "pathway": " (hsa:28976); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10.1101/2023.09.13.557529;11220739;11237011;12359260;12971426;16020546;16750164;17564966;17936786;19608861;19752196;20068231;20406883;20552642;20816094;20858599;20929961;21057504;21237683;21924235;22499348;23553477;23836383;23996478;24158852;24191001;25418920;25576301;25678554;25721401;25892735;26154972;26474213;26741492;26811146;26992070;27499296;27600516;27626371;27846572;28832583;28834231;28904123;29242379;29331515;29557506;29769354;30429286;30833945;31154438;31530632;31666358;31844290;31866046;32157095;32320651;32488085;32938616;32983136;33465208;33592498;33879611;33882309;33968037;34171305;34357683;34725712;34932366;35051231;35318648;35333655;35614220;36010968;36240223;36241641;36284347;37388727;37938771;38086790;38199007;38665916;40255280;40596516;40914422;9571201", "class_list": "", "function": "ACAD9 may play a role in the turnover of lipid membrane unsaturated fatty acids that are essential for membrane integrity and structure, [RefSeq, PubMed]; Acyl-CoA dehydrogenase 9 (ACAD 9)was identified as the long-chain ACAD in human embryonic and fetal brain and central nervous tissue, using in situ hybridization as well as enzymatic studies, [RefSeq, PubMed]; Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A). Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]., [RefSeq]; Together with NDUFAF1 and ECSIT, forms part of the mitochondrial complex I (MCIA),which is required for the biogenesis of respiratory Complex I (CI) and is therefore crucial for the activation of the oxidative phosphorylation system (PubMed:20816094, PubMed:24158852, PubMed:32320651, PubMed:38086790). ECSIT binding triggers a large conformational change, switching ACAD9 from a fatty acid oxidation (FAO) enzyme to a CI assembly factor (PubMed:38086790). The function in CI assembly is independent of the fatty acid oxidation (FAO) activity of the protein (PubMed:24158852). As FAO enzyme, it catalyzes the first step in mitochondrial FAO, which consists in the proR-proR stereospecific alpha, beta-dehydrogenation of fatty acyl-CoA thioesters using the electron transfer flavoprotein (ETF) as their physiologic electron acceptor, resulting in the formation of trans-2-enoyl-CoA ((2E)-enoyl-CoA) (PubMed:12359260, PubMed:16020546, PubMed:17564966, PubMed:21237683, PubMed:24158852). Its preferred substrates are both saturated and unsaturated long-chain acyl-CoA substrates, with optimum activity toward the latter (PubMed:12359260, PubMed:16020546, PubMed:17564966, PubMed:21237683, PubMed:24158852). In addition, based on its established catalytic mechanism, and combined genetic interaction or mutant phenotype evidence, it is predicted to act also on substrates that have not been tested experimentally but are metabolized by mitochondrial FAO, including long-chain unsaturated fatty acids such as linoleate (9Z,12Z-octadecadienoate), linolenate (9Z,12Z,15Z-octadecatrienoate), and others (PubMed:26474213). Among the different mitochondrial acyl-CoA dehydrogenases, its FAO activity overlaps with that of ACADV and ACADL, but plays a primary role in tissues where it is the main long-chain ACAD expressed, such as the central nervous system (PubMed:16020546, PubMed:17564966, PubMed:24158852, PubMed:25721401, PubMed:26474213). It differs significantly from ACADVL in the use of polyunsaturated substrates in vitro, especially docosahexaenoic acid (which is not primarily used for energy but mainly beta-oxidized in the peroxisomes) (PubMed:16020546, PubMed:17564966)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Very high activity of CPT2 and VCLAD, involved in the metabolism of long-chain fatty acids. Fatty acid oxidation may play role in energy generation in placenta, and deficiency in may result in placental dysfunction and gestational complications., [RefSeq, PubMed]; We now report three cases of ACAD9 deficiency., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DNB8;Q8WXX3", "ec_number_list": "7.1.1.2;1.3.8.7;1.3.8.8;1.3.8.9;2.1.1.-;1.-.-.-;2.1.1.320", "go_molecular_function": "GO:0003995 acyl-CoA dehydrogenase activity;GO:0004466 long-chain fatty acyl-CoA dehydrogenase activity;GO:0030674 protein-macromolecule adaptor activity;GO:0050660 flavin adenine dinucleotide binding;GO:0070991 medium-chain fatty acyl-CoA dehydrogenase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0030425 dendrite;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0001676 long-chain fatty acid metabolic process;GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0051791 medium-chain fatty acid metabolic process;GO:0006631 fatty acid metabolic process;GO:0019752 carboxylic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q9H845-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A1L4K1-1", "uniprot_id": "FSD2_HUMAN", "mass": 85385.0, "length": 749, "protein_name": "Fibronectin type III and SPRY domain-containing protein 2", "gene_name": "FSD2", "organism": "Human", "refseq_name": "fibronectin type III and SPRY domain-containing protein 2 isoform a", "refseq_ac": "NP_001007123", "gene_names_uniprotkb": "FSD2; SPRYD1", "gene_names_refseq": "FSD2; SPRYD1", "protein_names_uniprotkb": "Fibronectin type III and SPRY domain-containing protein 2; SPRY domain-containing protein 1", "protein_names_refseq": "SPRY domain containing 1; SPRY domain-containing protein 1; fibronectin type III and SPRY domain-containing protein 2 isoform a; fibronectin type III and SPRY domain-containing protein 2; minispryn", "tax_id": 9606, "disease": "", "pathway": " (hsa:123722)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;20966410;23328677;28740084;29557506;32938616;32983136;34087483;35051231;35580925;36010968;36215666", "class_list": "", "function": "Data identify a novel muscle-expressed TRIM-related protein minispryn, encoded by Fsd2, that has extensive sequence similarity with the C-terminus of Cmya5. They appear to have originated by a chromosomal duplication and are found within evolutionarily-conserved gene clusters on different chromosomes. Both proteins co-localize with RyR2 at the junctional sarcoplasmic reticulum of isolated cardiomyocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B3KVG1;B7ZM02", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0048471 perinuclear region of cytoplasm;GO:0016529 sarcoplasmic reticulum", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "A1L4K1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BRK4-1", "uniprot_id": "LZTS2_HUMAN", "mass": 72759.0, "length": 669, "protein_name": "Leucine zipper putative tumor suppressor 2", "gene_name": "LZTS2", "organism": "Human", "refseq_name": "leucine zipper putative tumor suppressor 2 isoform a", "refseq_ac": "NP_001305028", "gene_names_uniprotkb": "LZTS2; KIAA1813; LAPSER1", "gene_names_refseq": "LAPSER1; LZTS2", "protein_names_uniprotkb": "Leucine zipper putative tumor suppressor 2; Protein LAPSER1; hLZTS2", "protein_names_refseq": "leucine zipper putative tumor suppressor 2 isoform a; leucine zipper, putative tumor suppressor 2; protein LAPSER1", "tax_id": 9606, "disease": "urinary system disease (Disease Ontology:DOID:18)", "pathway": " (hsa:84445)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "10.1074/mcp.M114.046862;11237011;11709705;16959974;17000760;17351128;17950943;18490357;19651622;19664994;19664995;21406692;23186163;23301498;23481700;24714562;25418920;25576301;25813380;26375851;26728094;26992070;27600516;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29557506;29632711;29789417;30429286;30524438;30779550;31154438;31217245;31844290;31848261;32157095;32161166;32387766;32897882;32938616;32983136;33592498;33968037;33981976;34171305;34211107;34932366;35051231;35287088;35318648;35580925;36010968;37938771;38740232", "class_list": "", "function": "LAPSER1 C terminal domain inhibits katanin(p80/p60)-mediated microtubule severing in vitro., [RefSeq, PubMed]; LZTS2 is a beta-catenin-interacting protein and modulates beta-catenin signaling and localization, [RefSeq, PubMed]; LZTS2: A novel and independent prognostic biomarker for clear cell renal cell carcinoma., [RefSeq, PubMed]; Negative regulator of katanin-mediated microtubule severing and release from the centrosome. Required for central spindle formation and the completion of cytokinesis. May negatively regulate axonal outgrowth by preventing the formation of microtubule bundles that are necessary for transport within the elongating axon. Negative regulator of the Wnt signaling pathway. Represses beta-catenin-mediated transcriptional activation by promoting the nuclear exclusion of beta-catenin., [UniProtKB, HAMAP, PubMed, PubMed, PubMed, PubMed]; Phosphorylation of LZTS2 by PLK1 activates the Wnt pathway., [RefSeq, PubMed]; The protein encoded by this gene belongs to the leucine zipper tumor suppressor family of proteins, which function in transcription regulation and cell cycle control. This family member can repress beta-catenin-mediated transcriptional activation and is a negative regulator of the Wnt signaling pathway. It negatively regulates microtubule severing at centrosomes, and is necessary for central spindle formation and cytokinesis completion. It is implicated in cancer, where it may inhibit cell proliferation and decrease susceptibility to tumor development. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]; The reciprocal crosstalk between beta-catenin/Tcf pathway and NF-kappaB signaling in hMSCs is mediated through the regulation of lzts2 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": 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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 11, "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": "B1AL14;D3DR72;Q8N3I0;Q96J79;Q96JL2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0031982 vesicle;GO:0030496 midbody", "go_biological_process": "GO:0051013 microtubule severing;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0016055 Wnt signaling pathway;GO:0000281 mitotic cytokinesis;GO:0051168 nuclear export", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9BRK4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61978-1", "uniprot_id": "HNRPK_HUMAN", "mass": 50976.0, "length": 463, "protein_name": "Heterogeneous nuclear ribonucleoprotein K", "gene_name": "HNRNPK", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein K isoform c", "refseq_ac": "NP_001305115", "gene_names_uniprotkb": "HNRNPK; HNRPK", "gene_names_refseq": "AUKS; CSBP; HNRNPK; HNRPK; TUNP", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein K; TUNP; Transformation up-regulated nuclear protein; hnRNP K", "protein_names_refseq": "dC-stretch binding protein; heterogeneous nuclear ribonucleoprotein K isoform c; transformation upregulated nuclear protein", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); Raynaud disease (Disease Ontology:DOID:10300); colorectal cancer (Disease Ontology:DOID:9256); Au-Kline syndrome (MONDO:MONDO:0014700)", "pathway": " (hsa:3190); (R-HSA-4570464); (R-HSA-72163); (R-HSA-72203); (R-HSA-9610379); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 298, "publication_id_list": "10.1101/2023.09.13.557529;10329716;10369774;10669729;10807784;10882114;11014198;11060040;11101529;11231586;11233976;11237011;11259409;11747608;11840567;11991638;12052863;12093748;12176931;12183465;12196509;12411573;12414731;12477934;14519844;14625303;14654843;14713954;14749727;14762106;15037765;15082759;15084397;15161980;15302935;15565158;16112985;16115862;16314458;16360036;16564677;16809785;16964243;17081983;17095540;17128255;17287340;1729596;17322306;17332742;17606899;17924679;18212344;18288197;18322460;18369606;18452278;18593880;18669648;18691976;18767875;18775702;18991276;19054851;19103666;19165350;19217410;19413330;19415658;19536130;19596686;19640981;19651622;19664994;19664995;19690332;20058876;20068231;20166139;20230923;20423332;20673990;20695905;20797632;20797634;20865152;20960454;20980672;21295486;21406692;21536652;21647297;2176635;21821029;21911577;22110043;22365833;22721921;22813749;22825850;22959432;22961380;22967762;23092970;23186163;23222130;23236153;23301498;23345524;23576270;23825951;23874216;24076191;24126823;24129315;24149845;24196718;24236111;24275569;24304693;24316715;24366607;24407421;24448447;24714562;24715725;24737827;24782567;24914973;24981863;25104022;25114211;25218447;25301780;25301781;25410660;25502872;25555158;25576301;25576336;2558966;25678563;25755297;25810538;25880248;26092250;26100231;26154972;26173930;26385511;26420826;26638989;26782714;26811146;26853435;26969736;26992070;27108190;27377154;27397612;27459055;27655845;27683217;27846572;27851963;27862975;28062851;28076346;28096519;28423622;28467828;28502770;28510447;28514659;28781166;28904123;28911096;29186539;29274231;29301961;29351928;29360106;29361316;29493099;29557506;29632711;2963332;29902443;30123777;30139799;30257008;30315122;30315277;30397120;30410026;30429286;30444036;30524438;30538201;30573663;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31110205;31154438;31217245;31222486;31373491;31409651;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32179686;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32816001;32897882;32938616;32983136;33123756;33141586;33174841;33177556;33214551;33243851;33298915;33392160;33446560;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34093574;34171305;34211107;34301950;34433824;34725712;34822310;34932366;35008409;35051231;35083852;35177536;35215846;35318648;35385551;35561310;35580925;36010968;36241641;36284347;37217939;37340703;3757028;37592256;37938771;38165048;38279484;38414246;38654325;38665916;40596516;40914422;8107114;8352591;8566756;8608946;9016565;9242493;9409616;9512519;9524131;9539711;9651361;9659921;9671485;9701291;9731529", "class_list": "", "function": "Heterogeneous nuclear ribonucleoprotein K promotes cap-independent translation initiation of retroviral mRNAs., [RefSeq, PubMed]; Hnrnpk protects against osteoarthritis through targeting WWC1 mRNA and inhibiting Hippo signaling pathway., [RefSeq, PubMed]; Keratin 19 binds and regulates cytoplasmic HNRNPK mRNA targets in triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; One of the major pre-mRNA-binding proteins. Binds tenaciously to poly(C) sequences. Likely to play a role in the nuclear metabolism of hnRNAs, particularly for pre-mRNAs that contain cytidine-rich sequences. Can also bind poly(C) single-stranded DNA. Plays an important role in p53/TP53 response to DNA damage, acting at the level of both transcription activation and repression. When sumoylated, acts as a transcriptional coactivator of p53/TP53, playing a role in p21/CDKN1A and 14-3-3 sigma/SFN induction. As far as transcription repression is concerned, acts by interacting with long intergenic RNA p21 (lincRNA-p21), a non-coding RNA induced by p53/TP53. This interaction is necessary for the induction of apoptosis, but not cell cycle arrest. As part of a ribonucleoprotein complex composed at least of ZNF827, HNRNPL and the circular RNA circZNF827 that nucleates the complex on chromatin, may negatively regulate the transcription of genes involved in neuronal differentiation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Regulatory mechanism of interaction between Y-box-binding protein 1 and heterogenous nuclear ribonucleoprotein K in cell division cycle 25a signal pathway and lung cancer metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the 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 is located in the nucleoplasm and has three repeats of KH domains that binds to RNAs. It is distinct among other hnRNP proteins in its binding preference; it binds tenaciously to poly(C). This protein is also thought to have a role during cell cycle progession. Several alternatively spliced transcript variants have been described for this gene, however, not all of them are fully characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; Tumor-suppressive miR-4732-3p is sorted into fucosylated exosome by hnRNPK to avoid the inhibition of lung 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": 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": 34, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q07244;Q15671;Q59F98;Q5T6W4;Q60577;Q6IBN1;Q922Y7;Q96J62", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0060816 random inactivation of X chromosome;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006396 RNA processing;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 30.7, "record_id": "P61978-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15530-1", "uniprot_id": "PDPK1_HUMAN", "mass": 63152.0, "length": 556, "protein_name": "3-phosphoinositide-dependent protein kinase 1", "gene_name": "PDPK1", "organism": "Human", "refseq_name": "3-phosphoinositide-dependent protein kinase 1 isoform 3", "refseq_ac": "NP_001248745", "gene_names_uniprotkb": "PDPK1; PDK1", "gene_names_refseq": "PDK1; PDPK1; PRO0461", "protein_names_uniprotkb": "3-phosphoinositide-dependent protein kinase 1; 2.7.11.1; hPDK1", "protein_names_refseq": "3-phosphoinositide-dependent protein kinase 1 isoform 3; PkB kinase like gene 1", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:5170); (R-HSA-114604); (R-HSA-1257604); (R-HSA-165158); (R-HSA-202424); (R-HSA-2730905); (R-HSA-2871837); (R-HSA-354192); (R-HSA-389357); (R-HSA-392451); (R-HSA-444257); (R-HSA-5218920); (R-HSA-5218921); (R-HSA-5607764); (R-HSA-5625740); (R-HSA-5674400); (R-HSA-6804757); (R-HSA-9634635); (R-HSA-9735871); (R-HSA-9755779); (R-HSA-9856530)", "pathway_count": 21, "publication_count": 440, "publication_id_list": "10026222;10068651;10075701;10102273;10187770;10191262;10226025;10228164;10330186;10358075;10364160;10376603;10421574;10446041;10455013;10469124;10480933;10485710;10490848;10608892;10619026;10639123;10649434;10698680;10702308;10716940;10722742;10753910;10764742;10779524;10802064;10838074;10882101;10896934;10924361;10964917;10980695;10980696;10995762;11053425;11057907;11090634;11134534;11147812;11237011;11262391;11262396;11274386;11278486;11313932;11325957;11331307;11358993;11359766;11387210;11460167;11476890;11481033;11481331;11504915;11585927;11598301;11600407;11606584;11689445;11715018;11726503;11772397;11803464;11804587;11853546;11884229;11923872;11940607;11942626;11968001;11983168;12138205;12150915;12167717;12169624;12172553;12176338;12177059;12244303;12391145;12473183;12473184;12507995;12524439;12660731;12668767;12670391;12724311;12738763;12767043;12776187;12783890;12791994;12813055;12832405;12840507;12904306;14507994;14514672;14514689;14532121;14585963;14604990;14617782;14754902;15003508;15010370;15053880;15105418;15122200;15125833;15144186;15145317;15157149;15169778;15184667;15209375;15210700;15304325;15314172;15327770;15334074;1535557;15371334;15469846;15527798;15541657;15708849;15718470;15741170;15743829;15772071;15788536;15791647;15845454;15879121;15890450;15916963;16005629;16040750;16056267;16076873;16103198;16115959;1614537;16163388;16174766;16186825;16207722;16251192;16252004;16272144;16314505;16341139;16356853;16356855;16356856;16402859;16456001;16474402;16612002;16757337;16780920;16831874;16845383;16861033;16919435;16938345;16978534;16998888;17047224;17060906;17072321;17081983;17121812;17135271;17158449;17218263;1722201;17301291;17306213;17327236;17363905;17371830;17428801;17468049;17496917;17548359;17611497;17616532;17624957;17728323;17947532;17948050;17993265;18006505;18024423;18055455;18256540;18434644;18439422;18452278;18589439;18616680;18669648;18691976;18710921;1874735;18772140;18802401;18813292;18835241;18925875;18954143;18955485;19020623;19047061;19276999;19359218;19409513;19413330;19415658;19591923;19644473;19651622;19664994;19664995;19700402;19723632;19756449;19805105;19816404;19838211;19850008;19879889;19920149;19934406;20038579;20044479;20058876;20068231;20154085;20166139;20193029;20230923;20300203;20338997;20438709;20440266;20478047;20489726;20538596;20643654;20685844;20713061;20807769;20978239;21351730;21525931;21537480;21565140;21653832;21730132;21730163;21749319;21827948;21966355;21986495;22025163;22039492;22069318;22265677;22267732;22347420;22544756;22798961;22999883;23481700;24074955;24128008;24366607;24714562;24715725;25271362;25576301;25645385;26375851;26811146;26992070;27566546;27600516;27797339;28228285;2833705;2841328;28539435;28736554;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30524438;30779550;30833945;31092671;31154438;31205027;31217245;31530632;31844290;31848261;31998317;32157095;32296767;32329246;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33147444;33298915;33392160;33556408;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34357683;34499618;34509645;34513728;34561969;34932366;35051231;35126886;35318648;35561310;35580925;36010968;36241641;36284347;36580660;36581221;37496999;37531320;37938771;38115179;38494680;38605297;40914422;41698153;7479848;7499357;7513017;7612269;7624799;7637810;7686617;7744773;7784084;7876172;7957050;8246984;8319905;8479525;8550590;8601309;8617742;8621607;8631894;8635462;8645147;8645157;8662509;8673706;8700127;8755247;8887688;8954786;8972730;8986718;8990121;9028946;9094314;9199319;9218480;9228007;9252186;9264403;9278512;9351824;9354661;9362451;9368760;9381178;9438848;9445476;9445477;9448290;9478990;9620797;9637919;9679957;9687533;9705280;9707564;9736715;9768361;9812896;9829964;9889098;9889122;9895304;9915826;9988689;9990853", "class_list": "", "function": "CPT1A mediates the succinylation of SP5 which activates transcription of PDPK1 to promote the viability and glycolysis of prostate cancer cells., [RefSeq, PubMed]; Catalytically inactive., [UniProtKB, PubMed]; Cooperative activation of PDK1 and AKT by MAPK4 enhances cancer growth and resistance to therapy. Publication Status: Online-Only, [RefSeq, PubMed]; KLK10 promotes the progression of KRAS mutant colorectal cancer via PAR1-PDK1-AKT signaling pathway., [RefSeq, PubMed]; Mitotic gene regulation by the N-MYC-WDR5-PDPK1 nexus. Publication Status: Online-Only, [RefSeq, PubMed]; SDC2 Stabilization by USP14 Promotes Gastric Cancer Progression through Co-option of PDK1. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine kinase which acts as a master kinase, phosphorylating and activating a subgroup of the AGC family of protein kinases (PubMed:10226025, PubMed:10480933, PubMed:10995762, PubMed:12167717, PubMed:14585963, PubMed:14604990, PubMed:16207722, PubMed:16251192, PubMed:17327236, PubMed:17371830, PubMed:18835241, PubMed:9094314, PubMed:9368760, PubMed:9445476, PubMed:9445477, PubMed:9707564, PubMed:9768361). Its targets include: protein kinase B (PKB/AKT1, PKB/AKT2, PKB/AKT3), p70 ribosomal protein S6 kinase (RPS6KB1), p90 ribosomal protein S6 kinase (RPS6KA1, RPS6KA2 and RPS6KA3), cyclic AMP-dependent protein kinase (PRKACA), protein kinase C (PRKCD and PRKCZ), serum and glucocorticoid-inducible kinase (SGK1, SGK2 and SGK3), p21-activated kinase-1 (PAK1), TSSK3, protein kinase PKN (PKN1 and PKN2) (PubMed:10226025, PubMed:10480933, PubMed:10995762, PubMed:12167717, PubMed:14585963, PubMed:14604990, PubMed:16207722, PubMed:16251192, PubMed:17327236, PubMed:17371830, PubMed:18835241, PubMed:9094314, PubMed:9368760, PubMed:9445476, PubMed:9707564, PubMed:9768361). Plays a central role in the transduction of signals from insulin by providing the activating phosphorylation to PKB/AKT1, thus propagating the signal to downstream targets controlling cell proliferation and survival, as well as glucose and amino acid uptake and storage (PubMed:10226025, PubMed:12167717, PubMed:9094314). Negatively regulates the TGF-beta-induced signaling by: modulating the association of SMAD3 and SMAD7 with TGF-beta receptor, phosphorylating SMAD2, SMAD3, SMAD4 and SMAD7, preventing the nuclear translocation of SMAD3 and SMAD4 and the translocation of SMAD7 from the nucleus to the cytoplasm in response to TGF-beta (PubMed:17327236). Activates PPARG transcriptional activity and promotes adipocyte differentiation (By similarity). Activates the NF-kappa-B pathway via phosphorylation of IKKB (PubMed:16207722). The tyrosine phosphorylated form is crucial for the regulation of focal adhesions by angiotensin II (PubMed:14585963). Controls proliferation, survival, and growth of developing pancreatic cells (By similarity). Participates in the regulation of Ca(2+) entry and Ca(2+)-activated K(+) channels of mast cells (By similarity). Essential for the motility of vascular endothelial cells (ECs) and is involved in the regulation of their chemotaxis (PubMed:17371830). Plays a critical role in cardiac homeostasis by serving as a dual effector for cell survival and beta-adrenergic response (By similarity). Plays an important role during thymocyte development by regulating the expression of key nutrient receptors on the surface of pre-T cells and mediating Notch-induced cell growth and proliferative responses (By similarity). Provides negative feedback inhibition to toll-like receptor-mediated NF-kappa-B activation in macrophages (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 18, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 38, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "H0Y4Z0;Q59EH6;Q6FI20;Q8IV52;Q9BRD5", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;3.6.5.2;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;3.6.5.-;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.23;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;3.4.22.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0016004 phospholipase activator activity;GO:0043274 phospholipase binding;GO:0004676 3-phosphoinositide-dependent protein kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:1903672 positive regulation of sprouting angiogenesis;GO:1905564 positive regulation of vascular endothelial cell proliferation;GO:0006351 DNA-templated transcription;GO:0006468 protein phosphorylation;GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 46.0, "record_id": "O15530-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43516-1", "uniprot_id": "WIPF1_HUMAN", "mass": 51258.0, "length": 503, "protein_name": "WAS/WASL-interacting protein family member 1", "gene_name": "WIPF1", "organism": "Human", "refseq_name": "WAS/WASL-interacting protein family member 1 isoform a", "refseq_ac": "NP_001070737", "gene_names_uniprotkb": "WIPF1; WASPIP; WIP", "gene_names_refseq": "PRPL-2; WAS2; WASPIP; WIPF1; WIP", "protein_names_uniprotkb": "WAS/WASL-interacting protein family member 1; Protein PRPL-2; WASP-interacting protein; Wiskott-Aldrich syndrome protein-interacting protein", "protein_names_refseq": "WAS/WASL-interacting protein family member 1 isoform a; WASP-interacting protein; Wiskott-Aldrich syndrome protein interacting protein; protein PRPL-2; testicular tissue protein Li 226", "tax_id": 9606, "disease": "Wiskott-Aldrich syndrome 2 (MONDO:MONDO:0013779)", "pathway": " (hsa:7456); (R-HSA-2029482); (R-HSA-5663213); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9664422)", "pathway_count": 6, "publication_count": 371, "publication_id_list": "10202051;10219243;10232922;10464238;10490598;10496324;10508610;10523665;10523675;10526156;10559246;10559936;10579713;10699171;10699464;10724160;10781580;10873802;10878810;10958683;10995437;11007481;11058585;11085924;11149925;11157975;11231582;11237011;11276226;11278486;11306516;11329366;11340081;11373293;11396949;11431473;11432776;11553796;11584276;11606631;11672528;11696321;11704860;11707441;11747816;11756552;11773441;11803464;11804587;11804589;11804590;11829459;11854399;11884391;11912491;11948177;11961559;12055636;12071859;12093360;12096337;12105426;12172552;12189515;12195014;12213210;12221096;12235133;12351724;12432077;12464619;12504004;12531887;12546821;12547822;12650940;12665586;12743368;12773384;12857875;12860998;12877655;12907671;12923183;1314888;14506234;14512443;14514689;1464587;14675773;14676198;14718541;15023524;15033976;15040784;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15452139;15485661;15507211;15579468;15601624;15611138;15657136;15728722;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16262445;16275905;16473593;16492808;16507994;16519628;16546099;16630611;16636067;16641196;16702231;16714282;16762923;16777452;16777849;16862148;16880808;16896804;16914516;16968698;17064668;17077126;17145773;17188549;17196961;17202194;17214551;17244649;17308335;17583407;17599059;17702745;17711847;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18070890;18212344;18218625;18249095;18347018;18363964;18391171;18396277;18426980;18653540;18669648;18786931;18835169;18838382;18929667;19269969;19367720;19494238;19605563;19651622;19673492;19690332;19713215;19741094;19798448;19910490;19934221;19955216;20058876;20068231;20166139;20400958;20460433;20679435;20810653;21037092;21148482;21419341;21454492;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22231303;22298643;22407364;22461490;22475431;22571869;22608513;22734669;22970203;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23675550;23707487;23718289;23940355;24086303;24259668;24275569;24335996;24352656;24584464;24715725;2474607;24859002;24933155;24960694;24996924;25024229;25211221;25413351;25428919;25704760;25721503;25795300;25862245;25963737;26129894;26154972;26299518;26453379;26529257;26598554;26887924;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;27862975;28028151;28063628;28114311;28196833;28825699;28860633;29089502;29351928;29358323;29382922;29393594;29485866;29493099;29508533;29557506;30061681;30315122;30429286;30853411;31154438;31492838;31844290;31848261;31871319;32157095;32203420;32350084;32387766;32488085;32502341;32708183;32938750;32983136;33043033;33141586;33298915;33936100;33968037;34087483;34171305;34932366;35051231;35154160;35251023;35254053;35580925;36284347;37074911;40307207;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7848918;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8809042;8810315;8816443;8939998;8986718;8990121;8994827;9013646;9099726;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9600938;9659915;9670022;9705280;9792683;9799231;9822598;9829970;9843499;9846874;9883880;9885284;9988689", "class_list": "", "function": "Plays a role in the reorganization of the actin cytoskeleton. Contributes with NCK1 and GRB2 in the recruitment and activation of WASL. May participate in regulating the subcellular localization of WASL, resulting in the disassembly of stress fibers in favor of filopodia formation. Plays a role in the formation of cell ruffles (By similarity). Plays an important role in the intracellular motility of vaccinia virus by functioning as an adapter for recruiting WASL to vaccinia virus., [UniProtKB, PubMed, PubMed, PubMed]; The Disordered Cellular Multi-Tasker WIP and Its Protein-Protein Interactions: A Structural View. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [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": 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "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": "B8ZZM1;D3DPE4;Q15220;Q53TA9;Q6MZU9;Q9BU37;Q9UNP1", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0017124 SH3 domain binding;GO:0008093 cytoskeletal anchor activity;GO:0044183 protein folding chaperone;GO:0005522 profilin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005884 actin filament;GO:0015629 actin cytoskeleton;GO:0031410 cytoplasmic vesicle;GO:0001726 ruffle", "go_biological_process": "GO:0008154 actin polymerization or depolymerization;GO:0030048 actin filament-based movement;GO:0065003 protein-containing complex assembly;GO:0030029 actin filament-based process", "synthesized_glycan_count": 0, "hit_score": 37.7, "record_id": "O43516-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y312-1", "uniprot_id": "AAR2_HUMAN", "mass": 43472.0, "length": 384, "protein_name": "Protein AAR2 homolog", "gene_name": "AAR2", "organism": "Human", "refseq_name": "protein AAR2 homolog", "refseq_ac": "NP_001258803", "gene_names_uniprotkb": "AAR2; C20orf4; CGI-23; PRO0225", "gene_names_refseq": "AAR2; C20orf4; CGI-23", "protein_names_uniprotkb": "Protein AAR2 homolog; AAR2 splicing factor homolog", "protein_names_refseq": "AAR2 splicing factor homolog; protein AAR2 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:25980)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11230166;11237011;22223895;23301498;24714562;24715725;25418920;25576301;26154972;26527271;26728094;26929215;26992070;27600516;27846572;27862975;27893789;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30410026;30429286;30484775;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32387766;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34357683;34932366;35051231;35318648;35580925;36191209;36241641;36284347;36322420;40914422", "class_list": "", "function": "Arabidopsis AAR2, a conserved splicing factor in eukaryotes, acts in microRNA biogenesis. Erratum:[Proc Natl Acad Sci U S A. 2022 Dec 27;119(52):e2219264119. doi: 10.1073/pnas.2219264119. PMID: 36534814], [RefSeq, PubMed]; Component of the U5 snRNP complex that is required for spliceosome assembly and for pre-mRNA splicing., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Structural and functional investigation of the human snRNP assembly factor AAR2 in complex with the RNase H-like domain of PRPF8., [RefSeq, PubMed]; This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "E1P5S7;Q9H4F9;Q9P1P3;Q9UFK9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005681 spliceosomal complex;GO:0005682 U5 snRNP", "go_biological_process": "GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0048025 negative regulation of mRNA splicing, via spliceosome;GO:0000387 spliceosomal snRNP assembly;GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9Y312-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRW3-1", "uniprot_id": "ABC3C_HUMAN", "mass": 22826.0, "length": 190, "protein_name": "DNA dC->dU-editing enzyme APOBEC-3C", "gene_name": "APOBEC3C", "organism": "Human", "refseq_name": "DNA dC->dU-editing enzyme APOBEC-3C", "refseq_ac": "NP_055323", "gene_names_uniprotkb": "APOBEC3C; APOBEC1L; PBI", "gene_names_refseq": "A3C; APOBEC1L; APOBEC3C; ARDC2; ARDC4; ARP5; PBI; bK150C2.3", "protein_names_uniprotkb": "DNA dC->dU-editing enzyme APOBEC-3C; 3.5.4.38; A3C; APOBEC1-like; Phorbolin I", "protein_names_refseq": "DNA dC->dU-editing enzyme APOBEC-3C; apolipoprotein B editing enzyme catalytic polypeptide-like 3C; apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C; phorbolin I; probable DNA dC->dU-editing enzyme APOBEC-3C", "tax_id": 9606, "disease": "", "pathway": " (hsa:27350); (R-HSA-72200); (R-HSA-75094)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "11237011;11718896;11863358;12859895;15466872;15659357;16527742;18304004;18448976;18477386;19074429;20062055;20308164;21496894;21632763;21835787;21872626;21993680;22001110;22912627;22915799;22977230;23001005;23481700;24715725;25548167;25892735;26154972;26992070;27600516;27846572;28228285;28510447;28832583;28834231;29242379;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30833945;31154438;31217245;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32938616;33298915;33912179;34019948;34171305;34357683;34433824;34561969;34932366;35051231;35580925;36146883;36284347;36581221;37715423;37809064;38007705;38665916;38946641;8208612", "class_list": "", "function": "APOBEC3C is a novel target for the immune treatment of lower-grade gliomas., [RefSeq, PubMed]; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single- or double-stranded RNA. Exhibits antiviral activity against simian immunodeficiency virus (SIV), hepatitis B virus (HBV), herpes simplex virus 1 (HHV-1) and Epstein-Barr virus (EBV) and may inhibit the mobility of LTR and non-LTR retrotransposons. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Low Expression of A3C and PLP2 Indicating a Favorable Prognosis in Human Gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; Quantification of APOBEC3 Mutation Rates Affecting the VP1 Gene of BK Polyomavirus In Vivo. Publication Status: Online-Only, [RefSeq, PubMed]; The cytidine deaminase APOBEC3C has unique sequence and genome feature preferences., [RefSeq, PubMed]; The role of APOBEC3C in modulating the tumor microenvironment and stemness properties of glioma: evidence from pancancer analysis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. [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": 13, "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": "B2R884;Q5JZ92;Q7Z2N7;Q96F12", "ec_number_list": "3.5.4.38;3.5.4.-;3.5.4.36", "go_molecular_function": "GO:0003723 RNA binding;GO:0004126 cytidine deaminase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000932 P-body", "go_biological_process": "GO:0044029 positive regulation of gene expression via chromosomal CpG island demethylation;GO:0016554 cytidine to uridine editing;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0070383 DNA cytosine deamination", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9NRW3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P1F3-1", "uniprot_id": "ABRAL_HUMAN", "mass": 9056.0, "length": 81, "protein_name": "Costars family protein ABRACL", "gene_name": "ABRACL", "organism": "Human", "refseq_name": "costars family protein ABRACL", "refseq_ac": "NP_067066", "gene_names_uniprotkb": "ABRACL; C6orf115; HSPC280; PRO2013", "gene_names_refseq": "ABRACL; C6orf115; Costars; HSPC280; PRO2013", "protein_names_uniprotkb": "Costars family protein ABRACL; ABRA C-terminal-like protein", "protein_names_refseq": "ABRA C-terminal-like protein; costars family protein ABRACL", "tax_id": 9606, "disease": "", "pathway": " (hsa:58527)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;12665801;21082705;26154972;26992070;28218747;28228285;28467828;28649982;28832583;28904123;29242379;29557506;29632711;30315122;30410026;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32938616;33091337;33298915;33670794;33728339;33936100;33968037;34357683;34509645;34561969;35051231;35154160;35251023;35341461;35580925;36241641;37938771", "class_list": "", "function": "Actin-binding Rho activating C-terminal like (ABRACL) transcriptionally regulated by MYB proto-oncogene like 2 (MYBL2) promotes the proliferation, invasion, migration and epithelial-mesenchymal transition of breast cancer cells., [RefSeq, PubMed]; Associates with the actin cytoskeleton and may modulate actin dynamics, in favor of increasing the relative content of F-actin, therefore may play a role in cell migration. May be acting by inhibiting CFL1-mediated actin depolymerization., [UniProtKB, PubMed]; Human Costars Family Protein ABRACL Modulates Actin Dynamics and Cell Migration and Associates with Tumorigenic Growth. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-145-5p Inhibits the Proliferation, Migration, and Invasion of Esophageal Carcinoma Cells by Targeting ABRACL. Publication Status: Online-Only, [RefSeq, PubMed]; Solution structure of the human HSPC280 protein Erratum:[Protein Sci. 2011 Sep;20(9):1644], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q5SZC8;Q9P0A1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0032970 regulation of actin filament-based process", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9P1F3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRK6-1", "uniprot_id": "ABCBA_HUMAN", "mass": 79148.0, "length": 738, "protein_name": "ATP-binding cassette sub-family B member 10, mitochondrial", "gene_name": "ABCB10", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family B member 10, mitochondrial", "refseq_ac": "NP_036221", "gene_names_uniprotkb": "ABCB10", "gene_names_refseq": "ABCB10; EST20237; M-ABC2; MTABC2", "protein_names_uniprotkb": "ATP-binding cassette sub-family B member 10, mitochondrial; 7.6.2.-; ABC transporter 10 protein; ABC-me protein; ABC-mitochondrial erythroid protein; ATP-binding cassette transporter 10; M-ABC2; Mitochondrial ATP-binding cassette 2", "protein_names_refseq": "ABC transporter 10 protein; ABC-me protein; ABC-mitochondrial erythroid protein; ATP-binding cassette sub-family B member 10, mitochondrial; ATP-binding cassette transporter 10; ATP-binding cassette, sub-family B (MDR/TAP), member 10; mitochondrial ATP-binding cassette 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23456); (R-HSA-1369007)", "pathway_count": 2, "publication_count": 102, "publication_id_list": "10196363;10837493;10922475;11829140;12892562;15215243;15225610;16959974;17006453;19608861;22085049;22544926;22898188;23481700;23716676;24715725;25063848;25418920;25505266;25576301;25645385;25880248;26154972;26375851;26811146;26992070;27452731;27600516;27846572;27862975;28218747;28228285;28315685;28514659;28808058;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30484775;30524438;30765471;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33253225;33298915;33592498;33691108;33717175;33912179;33981976;34011630;34087483;34171305;34357683;34509645;34932366;35051231;35154160;35580925;36215666;36241641;36284347;37041204;37269954;37938771;38655715;40596516;7766993;9878413;9883897", "class_list": "", "function": "ATP-dependent transporter located in the mitochondrial inner membrane that catalyzes the export of biliverdin from the mitochondrial matrix, and plays a crucial role in hemoglobin synthesis and antioxidative stress (PubMed:22085049, PubMed:28315685, PubMed:28808058, PubMed:34011630, PubMed:37041204). Participates in the early step of the heme biosynthetic process during insertion of iron into protoporphyrin IX (PPIX) (PubMed:22085049, PubMed:28808058). Involved in the stabilization of the iron transporter mitoferrin-1/SLC25A37 (By similarity). In addition may be involved in mitochondrial unfolded protein response (UPRmt) signaling pathway, although ABCB10 probably does not participate in peptide export from mitochondria (PubMed:28315685)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Cardiomyocyte-specific deletion of the mitochondrial transporter Abcb10 causes cardiac dysfunction via lysosomal-mediated ferroptosis., [RefSeq, PubMed]; Loss of the mitochondrial protein Abcb10 results in altered arginine metabolism in MEL and K562 cells and nutrient stress signaling through ATF4., [RefSeq, PubMed]; Study of ABCB10 targeting, import, and dimerization, [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. The function of this mitochondrial protein is unknown. [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": 11, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q13040;Q6P1Q8;Q9H3V0", "ec_number_list": "7.6.2.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0140359 ABC-type transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006839 mitochondrial transport;GO:0045648 positive regulation of erythrocyte differentiation;GO:0046985 positive regulation of hemoglobin biosynthetic process;GO:0048821 erythrocyte development;GO:0006783 heme biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q9NRK6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UNA3-1", "uniprot_id": "A4GCT_HUMAN", "mass": 39497.0, "length": 340, "protein_name": "Alpha-1,4-N-acetylglucosaminyltransferase", "gene_name": "A4GNT", "organism": "Human", "refseq_name": "alpha-1,4-N-acetylglucosaminyltransferase", "refseq_ac": "NP_057245", "gene_names_uniprotkb": "A4GNT", "gene_names_refseq": "A4GNT; alpha4GnT", "protein_names_uniprotkb": "Alpha-1,4-N-acetylglucosaminyltransferase; 2.4.1.-; Alpha4GnT", "protein_names_refseq": "alpha-1,4-N-acetylglucosaminyltransferase", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793)", "pathway": " (hsa:51146); (R-HSA-913709)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "10330415;10430883;10753916;11042166;11283017;11304796;11821425;12855678;1329093;15486459;15560372;15620693;16441422;17113861;18537974;19751437;22183981;22307328;24643043;28904123;29393594;29632711;34932366;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the transfer of N-acetylglucosamine (GlcNAc) residues from UDP-N-acetyl-alpha-D-glucosamine donnors to beta (1->4)-linked or beta-(1->3)-linked galactose residues on O-glycans like core 2 branched O-glycans (PubMed:10430883). Necessary for the synthesis of type III mucin which is specifically produced in the stomach, duodenum, and pancreatic duct (PubMed:10430883). May protect against inflammation-associated gastric adenocarcinomas (By similarity)., [UniProtKB, PubMed, UniProtKB]; Human alpha1,4-N-acetylglucosaminyltransferase (alpha4GnT) is responsible for O-glycan biosynthesis and has a role in preventing gastric cancer by inhibiting H. pylori infection and also suppressing tumor-promoting inflammation, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008]., [RefSeq]; Up-regulation of alpha-1,4-N-acetylglucosaminyltransferase is associated with pancreatic cancer Erratum:[Cancer Sci. 2006 Mar;97(3):242], [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": 0, "reported_glycation": 0, "reported_snv": 452, "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": "Q0VDK1;Q0VDK2", "ec_number_list": "2.4.1.-", "go_molecular_function": "GO:0008375 acetylglucosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006493 protein O-linked glycosylation;GO:0009101 glycoprotein biosynthetic process;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 94, "hit_score": 3.1, "record_id": "Q9UNA3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MUL3-1", "uniprot_id": "ADAS1_HUMAN", "mass": 15836.0, "length": 147, "protein_name": "Putative uncharacterized protein ADARB2-AS1", "gene_name": "ADARB2-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ADARB2-AS1; C10orf109; NCRNA00168", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ADARB2-AS1; ADARB2 antisense RNA 1; ADARB2 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "24715725", "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": "A8MUL3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43306-1", "uniprot_id": "ADCY6_HUMAN", "mass": 130615.0, "length": 1168, "protein_name": "Adenylate cyclase type 6", "gene_name": "ADCY6", "organism": "Human", "refseq_name": "adenylate cyclase type 6 isoform 1", "refseq_ac": "NP_056085", "gene_names_uniprotkb": "ADCY6; KIAA0422", "gene_names_refseq": "AC6; ADCY6; LCCS8", "protein_names_uniprotkb": "Adenylate cyclase type 6; 4.6.1.1; ATP pyrophosphate-lyase 6; Adenylate cyclase type VI; Adenylyl cyclase 6; Ca(2+)-inhibitable adenylyl cyclase", "protein_names_refseq": "ATP pyrophosphate-lyase 6; adenylate cyclase type 6 isoform 1; adenylate cyclase type 6; adenylate cyclase type VI; ca(2+)-inhibitable adenylyl cyclase", "tax_id": 9606, "disease": "lethal congenital contracture syndrome (Disease Ontology:DOID:0060558); lethal congenital contracture syndrome 8 (Disease Ontology:DOID:0061264); ureteral obstruction (Disease Ontology:DOID:5199)", "pathway": " (hsa:112); (R-HSA-163359); (R-HSA-163615); (R-HSA-164378); (R-HSA-170660); (R-HSA-170670); (R-HSA-381676); (R-HSA-400042); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-432040); (R-HSA-5610787); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-9856530)", "pathway_count": 17, "publication_count": 376, "publication_id_list": "10.1101/2023.09.13.557529;10075700;10318832;10376603;10449730;10496952;10579907;10639123;10649434;10714768;10764742;10861086;10948191;10954748;10966113;10978539;11007482;11034202;11043579;11071853;11076974;11237011;11313909;11327830;11375483;11773440;11832410;11853546;11968001;12034449;12036966;12058044;12106601;12117970;12120503;12176338;12180353;12180908;12192414;12194985;12401793;12410638;12417718;12435627;12475787;12496249;12724311;12801959;12860470;12938160;1325798;1347957;13549488;13680124;1372004;1373524;14514350;14514735;14592814;14603322;14671004;14675202;14701836;14988243;15087129;1510932;15161916;1517224;15245432;15302935;15304325;1534149;15385642;15539556;15569269;15703994;15705806;15718470;15765929;15769620;15879134;15930098;15951850;15955806;15995848;16061793;16120822;16136078;16229832;16254602;16311594;16313925;16339192;16352729;16371464;16373322;16396903;16407073;16407156;1645720;16493421;1658606;16613843;16613879;16634148;16645038;16687412;16707575;16780920;16921024;16923326;16973695;17027958;17095603;17110384;17156409;17168849;17178220;17200122;17230639;17306374;17379646;17442700;17444618;17553904;17641202;17762891;17900700;17916776;17960137;18044684;18070890;18088087;18162464;18202100;18202181;18287102;18327258;18412318;18434541;18455992;1849000;18511455;18566127;18577758;18578522;18669648;18678926;18710921;18818202;18832070;19000668;19020623;19105585;19144687;19170255;19196978;19223390;19258039;19286674;19342448;19365551;19383790;1939224;19413330;19549984;19574955;19592253;19666503;19723632;19741198;19767740;19776033;19859570;19861722;19876791;19877275;19906846;19929708;19931550;19948480;19996169;20067783;20154143;20207148;20381629;20395968;20412786;20460306;20844016;20889716;20956384;21036126;21037092;2105456;21209331;2163110;21695114;21801010;21844907;22007132;22231273;22391300;22495674;23186163;23209152;23332756;23675550;23719536;23863937;2417744;24273487;24302888;24319099;24339784;24530924;24687066;24714562;24845016;24863049;24917297;2491850;24925320;24952464;24962572;2534964;2553411;2553705;25576301;26154972;26190834;26308095;26417854;26987903;26992070;27392633;27397612;2748346;27566546;27797339;27862975;2834384;28450397;28502923;28595943;2871555;28832583;29242379;29443750;29493099;29557506;29602314;29789417;2991279;30429286;3049610;30524438;30779550;30833991;3104109;31154438;31205027;3127824;31279028;31383768;31399091;31530632;31844290;31846058;31848261;31886586;31983287;32157095;32161166;32226383;32296767;32387766;32497535;32540603;32618402;32715661;32897882;32938616;32983136;33049737;33592498;33717175;33981976;34087483;34171305;34499618;34932366;35051231;35251023;35561310;35580925;36010968;36215666;36241641;36284347;37938771;39894887;4065330;6085243;7503232;7510718;7517665;7522622;7526388;7530449;7535000;7538665;7559455;7568118;7589461;7595566;7641683;7651538;7678419;7876172;7937899;8007951;8015379;8063828;8099279;8119955;8138058;8140421;8226994;8243272;8277227;8327893;8340388;8340414;8404634;8405712;8406495;8476432;8514797;8522976;8527267;8598224;8621513;8657103;8662784;8663304;8672451;8683474;8700127;8702633;8778232;8830891;8855281;8862523;8997178;9000504;9042338;9050880;9162098;9227644;9263355;9314552;9369468;9374639;9374640;9417641;9488697;9620797;9651336;9707174;9756892;9760042;9829975;9857068;9865521;9920805", "class_list": "", "function": "Catalyzes the formation of the signaling molecule cAMP downstream of G protein-coupled receptors (PubMed:17110384, PubMed:17916776). Functions in signaling cascades downstream of beta-adrenergic receptors in the heart and in vascular smooth muscle cells (PubMed:17916776). Functions in signaling cascades downstream of the vasopressin receptor in the kidney and has a role in renal water reabsorption. Functions in signaling cascades downstream of PTH1R and plays a role in regulating renal phosphate excretion. Functions in signaling cascades downstream of the VIP and SCT receptors in pancreas and contributes to the regulation of pancreatic amylase and fluid secretion (By similarity). Signaling mediates cAMP-dependent activation of protein kinase PKA. This promotes increased phosphorylation of various proteins, including AKT. Plays a role in regulating cardiac sarcoplasmic reticulum Ca(2+) uptake and storage, and is required for normal heart ventricular contractibility. May contribute to normal heart function (By similarity). Mediates vasodilatation after activation of beta-adrenergic receptors by isoproterenol (PubMed:17916776). Contributes to bone cell responses to mechanical stimuli (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Data found that direct binding of 4.1G to the N-terminus of AC6 (AC6-N) contributes to the plasma membrane association of AC6-N and the resulting suppression of AC6 cyclase activity., [RefSeq, PubMed]; Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6., [RefSeq, PubMed]; Gene expression and DNA methylation analyses suggest that immune process-related ADCY6 is a prognostic factor of luminal-like breast cancer., [RefSeq, PubMed]; Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects, [RefSeq, PubMed]; This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]., [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": 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": 30, "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": "Q9NR75;Q9UDB0", "ec_number_list": "4.6.1.1;3.6.5.-;2.7.7.85", "go_molecular_function": "GO:0004016 adenylate cyclase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0046872 metal ion binding;GO:0005080 protein kinase C binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0016020 membrane;GO:0032420 stereocilium", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0006171 cAMP biosynthetic process;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 38.1, "record_id": "O43306-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P40394-1", "uniprot_id": "ADH7_HUMAN", "mass": 41481.0, "length": 386, "protein_name": "All-trans-retinol dehydrogenase [NAD(+)] ADH7", "gene_name": "ADH7", "organism": "Human", "refseq_name": "all-trans-retinol dehydrogenase [NAD(+)] ADH7 isoform 1", "refseq_ac": "NP_001159976", "gene_names_uniprotkb": "ADH7", "gene_names_refseq": "ADH7", "protein_names_uniprotkb": "All-trans-retinol dehydrogenase [NAD(+)] ADH7; 1.1.1.105; 1.1.1.1; 1.1.1.66; Alcohol dehydrogenase class 4 mu/sigma chain; Alcohol dehydrogenase class IV mu/sigma chain; Gastric alcohol dehydrogenase; Omega-hydroxydecanoate dehydrogenase ADH7; Retinol dehydrogenase", "protein_names_refseq": "alcohol dehydrogenase VII; alcohol dehydrogenase class 4 mu/sigma chain; alcohol dehydrogenase class IV mu/sigma chain; alcohol dehydrogenase-7; all-trans-retinol dehydrogenase [NAD(+)] ADH7 isoform 1; all-trans-retinol dehydrogenase [NAD(+)] ADH7; class IV sigma-1 alcohol dehydrogenase; class IV sigmasigma alcohol dehydrogenase; gastric alcohol dehydrogenase; omega-hydroxydecanoate dehydrogenase ADH7; retinol dehydrogenase", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:131); (R-HSA-211935); (R-HSA-71384)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "10441588;10631979;10631996;10697413;10843999;11162607;11237011;15006160;15369820;1592118;16787387;16788062;1755855;18196;1985938;20616185;224930;25527893;270680;28731573;30292490;31844290;32388801;3278908;33592498;3365377;35051231;37712142;4065146;427099;4504607;4748759;6395883;7771649;7876099;7876191;7925371;8074657;8082805;8195208;8631948;8824810;8913342;8914854;9228021;9600267;9982", "class_list": "", "function": "An alcohol dehydrogenase 7 gene polymorphism associates with both acute and chronic pain in sickle cell disease., [RefSeq, PubMed]; Association of ADH7 Gene Polymorphism with Schizophrenia in the Han Population of Northern China: a Case-Control Study., [RefSeq, PubMed]; Catalyzes the NAD-dependent oxidation of all-trans-retinol, alcohol, and omega-hydroxy fatty acids and their derivatives (PubMed:15369820, PubMed:16787387, PubMed:9600267). Oxidizes preferentially all trans-retinol, all-trans-4-hydroxyretinol, 9-cis-retinol, 2-hexenol, and long chain omega-hydroxy fatty acids such as juniperic acid (PubMed:15369820, PubMed:16787387, PubMed:9600267). In vitro can also catalyze the NADH-dependent reduction of all-trans-retinal and aldehydes and their derivatives (PubMed:15369820, PubMed:16787387, PubMed:9600267). Reduces preferentially all trans-retinal, all-trans-4-oxoretinal and hexanal (PubMed:15369820, PubMed:16787387). Catalyzes in the oxidative direction with higher efficiency (PubMed:15369820, PubMed:16787387). Therefore may participate in retinoid metabolism, fatty acid omega-oxidation, and elimination of cytotoxic aldehydes produced by lipid peroxidation (PubMed:15369820, PubMed:16787387, PubMed:9600267)., [UniProtKB, PubMed, PubMed, PubMed]; The results of the study do not support our hypothesis that ADH1B and ADH7 genotypes affect blood ethanol, and acetaldehyde concentration., [RefSeq, PubMed]; These results provide evidence that PAX6 might drive corneal epithelial differentiation by direct or indirect control of retinoic acid signaling processes through ADH7 and ALDH1A1., [RefSeq, PubMed]; These results suggest that variants near ADH7 may play a role in protection from alcohol dependence in this Mexican American cohort. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RRB6;A8MVN9;B2R760;B4DWV6;Q13713", "ec_number_list": "1.1.1.105;1.1.1.62;1.1.1.239;1.1.1.209;1.1.1.53;1.1.1.315;1.1.1.1;1.1.1.-;1.1.1.284;1.1.1.66", "go_molecular_function": "GO:0004022 alcohol dehydrogenase (NAD+) activity;GO:0008270 zinc ion binding;GO:0004031 aldehyde oxidase activity;GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:0019841 retinol binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0045471 response to ethanol;GO:0009617 response to bacterium;GO:0010430 fatty acid omega-oxidation;GO:0042572 retinol metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "P40394-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q08462-1", "uniprot_id": "ADCY2_HUMAN", "mass": 123603.0, "length": 1091, "protein_name": "Adenylate cyclase type 2", "gene_name": "ADCY2", "organism": "Human", "refseq_name": "adenylate cyclase type 2", "refseq_ac": "NP_065433", "gene_names_uniprotkb": "ADCY2; KIAA1060", "gene_names_refseq": "AC2; ADCY2; HBAC2", "protein_names_uniprotkb": "Adenylate cyclase type 2; 4.6.1.1; ATP pyrophosphate-lyase 2; Adenylate cyclase type II; Adenylyl cyclase 2", "protein_names_refseq": "3',5'-cyclic AMP synthetase; ATP pyrophosphate-lyase 2; adenylate cyclase 2 (brain); adenylate cyclase II; adenylate cyclase type 2; adenylate cyclase type II; adenylyl cyclase 2; type II adenylate cyclase", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); bipolar disorder (Disease Ontology:DOID:3312)", "pathway": " (hsa:108); (R-HSA-163359); (R-HSA-163615); (R-HSA-164378); (R-HSA-170660); (R-HSA-170670); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-432040); (R-HSA-5610787); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-9856530)", "pathway_count": 15, "publication_count": 290, "publication_id_list": "10075700;10376603;10496952;10579907;10639123;10649434;10714768;10764742;10861086;10954748;10966113;11007482;11034202;11043579;11076974;11237011;11313909;11375483;11549699;11773440;11832410;11853546;11968001;12036966;12058044;12106601;12117970;12120503;12176338;12180353;12192414;12194985;12417718;12435627;12724311;12801959;12860470;1325798;1347957;13549488;1372004;1373524;1427768;14514735;14592814;14603322;14671004;14675202;14701836;15087129;1510932;15161916;1517224;15245432;15304325;1534149;15385642;15539556;15703994;15705806;15718470;15765929;15769620;15879134;15930098;15951850;16061793;16120822;16136078;16229832;16254602;16311594;16313925;16339192;16396903;16407073;16407156;16493421;1658606;16613843;16634148;16645038;16687412;16707575;16780920;16921024;16923326;17027958;17156409;17168849;17178220;17200122;17230639;17379646;17442700;17553904;17641202;17762891;17960137;18044684;18070890;18202181;18327258;18434541;18455992;18511455;18566127;18577758;18678926;18710921;18818202;18832070;19000668;19020623;19105585;19144687;19170255;19196978;19223390;19286674;19342448;19365551;19383790;1939224;19549984;19574955;19592253;19666503;19723632;19741198;19767740;19776033;19876791;19877275;19906846;19929708;19931550;19948480;19996169;20067783;20154143;20207148;20381629;20395968;20412786;20460306;20844016;20889716;20956384;21036126;21037092;2105456;21209331;21228062;2163110;21695114;21801010;21844907;22007132;22231273;22391300;22495674;23209152;23332756;23481700;23675550;23719536;23863937;2417744;24273487;24302888;24339784;24530924;24687066;24845016;24863049;24917297;2491850;24925320;24952464;24962572;2534964;25418920;2553411;2553705;25815774;26190834;26417854;26811146;26987903;27392633;2748346;27566546;27797339;28228285;2834384;28450397;28502923;28595943;2871555;29242379;29331515;29443750;29557506;29602314;2991279;30429286;3049610;30833991;3104109;31205027;3127824;31279028;31399091;31848261;31983287;32157095;32226383;32296767;32447269;32497535;32540603;32618402;32715661;32893730;33049737;34078123;34087483;34499618;35051231;37493101;4065330;6085243;7503232;7510718;7517665;7522622;7526388;7530449;7535000;7538665;7559455;7568118;7595566;7651538;7678419;7876172;7937899;8007951;8015379;8063828;8119955;8140421;8226994;8243272;8327893;8340388;8340414;8406495;8476432;8514797;8522976;8527267;8598224;8621513;8657103;8663304;8672451;8683474;8700127;8702633;8855281;8862523;9000504;9042338;9050880;9162098;9227644;9263355;9314552;9369468;9374639;9374640;9417641;9620797;9651336;9756892;9829975;9857068;9865521", "class_list": "", "function": "Association of adenylate cyclase-2 gene polymorphism with bipolar disorder., [RefSeq, PubMed]; Catalyzes the formation of the signaling molecule cAMP in response to G protein signaling (PubMed:15385642). Down-stream signaling cascades mediate changes in gene expression patterns and lead to increased IL6 production. Functions in signaling cascades downstream of the muscarinic acetylcholine receptors (By similarity)., [UniProtKB, UniProtKB, PubMed]; CircSLC25A13 acts as a ceRNA to regulate AML progression via miR-616-3p/ADCY2 axis., [RefSeq, PubMed]; In patients receiving capecitabine monotherapy, rs4702484, located in ADCY2 and close to MTRR, was associated with slightly reduced PFS for homozygous wild-type patients (CC 6.2 vs. CT 8.0 months; P=0.018)., [RefSeq, PubMed]; Investigation of the impact of an ADCY2 polymorphism as a predictive biomarker in bipolar disorder, suicide tendency and response to lithium carbonate therapy: the first report from Iran., [RefSeq, PubMed]; This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "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": "B7Z2C1;Q2NKL8;Q9UDB2;Q9UPU2", "ec_number_list": "4.6.1.1;3.6.5.-;2.7.7.85", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004016 adenylate cyclase activity;GO:0005524 ATP binding;GO:0030145 manganese ion binding;GO:0008179 adenylate cyclase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite;GO:0045121 membrane raft", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0006171 cAMP biosynthetic process;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0071377 cellular response to glucagon stimulus", "synthesized_glycan_count": 0, "hit_score": 29.1, "record_id": "Q08462-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3MIX3-1", "uniprot_id": "ADCK5_HUMAN", "mass": 65828.0, "length": 580, "protein_name": "Uncharacterized aarF domain-containing protein kinase 5", "gene_name": "ADCK5", "organism": "Human", "refseq_name": "uncharacterized aarF domain-containing protein kinase 5", "refseq_ac": "NP_777582", "gene_names_uniprotkb": "ADCK5", "gene_names_refseq": "ADCK5", "protein_names_uniprotkb": "Uncharacterized aarF domain-containing protein kinase 5; 2.7.11.-", "protein_names_refseq": "uncharacterized aarF domain-containing protein kinase 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:203054)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;17344846;27600516;28228285;28832583;29242379;29508533;29557506;29632046;30429286;30524438;31217245;31844290;32157095;32277958;32897882;32938616;33298915;33592498;33912179;33936100;33968037;34171305;35580925", "class_list": "", "function": "AarF domain containing kinase 5 gene promotes invasion and migration of lung cancer cells through ADCK5-SOX9-PTTG1 pathway., [RefSeq, PubMed]; The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr)., [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": "B3KS46;Q5U4P1;Q6P2S4;Q8N5V3", "ec_number_list": "", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q3MIX3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z6V5-1", "uniprot_id": "ADAT2_HUMAN", "mass": 21046.0, "length": 191, "protein_name": "tRNA-specific adenosine-34 deaminase catalytic subunit ADAT2", "gene_name": "ADAT2", "organism": "Human", "refseq_name": "tRNA-specific adenosine-34 deaminase catalytic subunit ADAT2 isoform b", "refseq_ac": "NP_001273188", "gene_names_uniprotkb": "ADAT2; DEADC1", "gene_names_refseq": "ADAT2; DEADC1; TAD2; dJ20N2.1; dJ20N2", "protein_names_uniprotkb": "tRNA-specific adenosine-34 deaminase catalytic subunit ADAT2; 3.5.4.33; Deaminase domain-containing protein 1", "protein_names_refseq": "adenosine deaminase, tRNA-specific 2, TAD2 homolog; deaminase domain containing 1; deaminase domain-containing protein 1; tRNA-specific adenosine deaminase 2 homolog; tRNA-specific adenosine-34 deaminase catalytic subunit ADAT2 isoform b; tRNA-specific adenosine-34 deaminase catalytic subunit ADAT2; tRNA-specific adenosine-34 deaminase subunit ADAT2", "tax_id": 9606, "disease": "", "pathway": " (hsa:134637); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10430867;10982862;11027153;11111046;12403464;12457566;15861136;15870694;15994936;16043508;16424344;17071714;18567810;19017811;19414587;20123966;20308323;20354154;20581866;20584901;21059936;21131277;22344696;22591353;22995836;23042678;23048041;23381944;23604283;24126054;24204302;24901367;25261850;25404562;25880248;25916855;26160102;26310293;26992070;27055666;28514659;28703578;30410026;30429286;31217245;31481669;31844290;32157095;32488085;32763916;34932366;35580925;36610787;39894887;9430663;9851972", "class_list": "", "function": "Catalytic subunit of the tRNA-specific adenosine-34 deaminase complex, composed of the ADAT2 catalytic subunit and the ADAT3 regulatory subunit, which deaminates adenosine-34 (the first, also called wobble position of the anticodon) to inosine in many tRNAs. Inosine-34 allows the decoding of 3 different nucleotides at the third position of mRNA codons, as inosine is able to pair with U, C, and A. Binding of the ADAT2-ADAT3 complex to tRNA is mediated by the N-terminus of ADAT3 which rotates with respect to the catalytic domain of the complex, formed by ADAT2 and the ADAT3 C-terminal domain, to position the tRNA anticodon stem-loop correctly in the ADAT2 active site. The ADAT2-ADAT3 complex is required for radial migration of projection neurons in the developing brain cortex, and the catalytic activity of the complex is necessary for this function., [UniProtKB, UniProtKB]; Data indicate that ATAD2 overexpression in somatic cells, by acting on basic properties of chromatin, may contribute to malignant transformation, [RefSeq, PubMed]; Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder., [RefSeq, PubMed]; Transfer RNAs (tRNAs) are among the most heavily modified RNA species. Data confirm that ADAT2 exhibits substrate specificity that includes tRNA(Ala-AGC) and tRNA(Thr-AGU), deaminating adenosine-34 to inosine-34 as post-transcriptional modifications., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A6NL12;B3KWY3;Q7Z327;Q8IY39", "ec_number_list": "3.5.4.33", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0052717 tRNA-specific adenosine-34 deaminase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0002100 tRNA wobble adenosine to inosine editing", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q7Z6V5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NCV1-1", "uniprot_id": "ADAD2_HUMAN", "mass": 61755.0, "length": 583, "protein_name": "Adenosine deaminase domain-containing protein 2", "gene_name": "ADAD2", "organism": "Human", "refseq_name": "adenosine deaminase domain-containing protein 2 isoform 2", "refseq_ac": "NP_001138872", "gene_names_uniprotkb": "ADAD2; TENRL", "gene_names_refseq": "ADAD2; TENRL", "protein_names_uniprotkb": "Adenosine deaminase domain-containing protein 2; Testis nuclear RNA-binding protein-like", "protein_names_refseq": "adenosine deaminase domain-containing protein 2 isoform 2; adenosine deaminase domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:161931)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;32387766;32502341;32741963;36010968;39894887", "class_list": "", "function": "Required for male fertility and normal male germ cell differentiation., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RCL6;Q8NA94", "ec_number_list": "", "go_molecular_function": "GO:0008251 tRNA-specific adenosine deaminase activity;GO:0003725 double-stranded RNA binding;GO:0003726 double-stranded RNA adenosine deaminase activity;GO:0003723 RNA binding;GO:0004000 adenosine deaminase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006396 RNA processing;GO:0007286 spermatid development;GO:0006382 adenosine to inosine editing;GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NCV1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96M93-1", "uniprot_id": "ADAD1_HUMAN", "mass": 64411.0, "length": 576, "protein_name": "Adenosine deaminase domain-containing protein 1", "gene_name": "ADAD1", "organism": "Human", "refseq_name": "adenosine deaminase domain-containing protein 1 isoform 2", "refseq_ac": "NP_001152757", "gene_names_uniprotkb": "ADAD1; TENR", "gene_names_refseq": "ADAD1; Tenr", "protein_names_uniprotkb": "Adenosine deaminase domain-containing protein 1; Testis nuclear RNA-binding protein", "protein_names_refseq": "adenosine deaminase domain containing 1 (testis-specific); adenosine deaminase domain-containing protein 1 isoform 2; adenosine deaminase domain-containing protein 1; testis nuclear RNA-binding protein; testis tissue sperm-binding protein Li 92mP", "tax_id": 9606, "disease": "", "pathway": " (hsa:132612)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;17558408;28145159;31844290;32488085;33392160;34105348;34171305;35051231", "class_list": "", "function": "ADAD1_rs17388568 AA was associated with a lower risk of having joints with Limitation of motion in patients with Juvenile Idiopathic Arthritis., [RefSeq, PubMed]; Genetic variation in a linkage disequilibrium block encompassing the KIAA1109-TENR-IL2-IL21 genes predisposes to celiac disease. GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required for male fertility and normal male germ cell differentiation (By similarity). Plays a role in spermatogenesis (By similarity). Binds to RNA but not to DNA (By similarity)., [UniProtKB, UniProtKB]; Required for male fertility and normal male germ cell differentiation. Plays a role in spermatogenesis. Binds to RNA but not to DNA., [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": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NKN4;B7WPB0;D3DNX2;Q8IWG6;Q8NA06", "ec_number_list": "", "go_molecular_function": "GO:0008251 tRNA-specific adenosine deaminase activity;GO:0003725 double-stranded RNA binding;GO:0003726 double-stranded RNA adenosine deaminase activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005634 nucleus", "go_biological_process": "GO:0006396 RNA processing;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006382 adenosine to inosine editing", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96M93-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKJ8-1", "uniprot_id": "ADA21_HUMAN", "mass": 80834.0, "length": 722, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 21", "gene_name": "ADAM21", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 21 preproprotein", "refseq_ac": "NP_003804", "gene_names_uniprotkb": "ADAM21", "gene_names_refseq": "ADAM 21; ADAM21; ADAM31", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 21; 3.4.24.-; ADAM 21", "protein_names_refseq": "ADAM metallopeptidase domain 21, preproprotein; a disintegrin and metalloproteinase domain 21; disintegrin and metalloproteinase domain-containing protein 21 preproprotein; disintegrin and metalloproteinase domain-containing protein 21", "tax_id": 9606, "disease": "", "pathway": " (hsa:8747); (R-HSA-2534343)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "10.1101/2023.09.13.557529;10524237;20364096;29138461;35051231;8195297;9469942", "class_list": "", "function": "ADAM21 was overexpressed in KYN-2 hepatocellular carcinoma (HCC) cell line, and its knockdown reduced invasion, migration, proliferation, and metastasis relative to controls. In HCC clinical specimens, ADAM21 positivity was associated with vascular invasion, large tumor size, high histological grade, and lower overall and recurrence-free survival as compared to cases that were negative for ADAM21 expression. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in sperm maturation and/or fertilization. May also be involved in epithelia functions associated with establishing and maintaining gradients of ions or nutrients., [UniProtKB]; This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene expression is testis-specific. [provided by RefSeq, May 2011]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 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": 39, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "O43507;Q2VPC6;Q32MR0", "ec_number_list": "3.4.24.-;2.4.1.-;2.4.1.275;2.4.1.22;2.4.1.38;2.4.1.90", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008237 metallopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0043025 neuronal cell body;GO:0009897 external side of plasma membrane;GO:1990913 sperm head plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007338 single fertilization;GO:0008584 male gonad development", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9UKJ8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DMS8-1", "uniprot_id": "AA3R_HUMAN", "mass": 36185.0, "length": 318, "protein_name": "Adenosine receptor A3", "gene_name": "ADORA3", "organism": "Human", "refseq_name": "adenosine receptor A3 isoform A", "refseq_ac": "NP_000668", "gene_names_uniprotkb": "ADORA3", "gene_names_refseq": "A3AR; ADORA3", "protein_names_uniprotkb": "Adenosine receptor A3", "protein_names_refseq": "adenosine receptor A3 isoform A", "tax_id": 9606, "disease": "", "pathway": " (hsa:140); (R-HSA-417973); (R-HSA-418594)", "pathway_count": 3, "publication_count": 37, "publication_id_list": "10029519;11007482;11214319;11237011;12120503;1530647;15951850;16634148;16923326;16959974;18434541;18577758;2534964;2748346;27543614;27886186;2834384;29557506;30429286;31154438;31848261;32387766;32897882;33472058;35051231;35580925;38627384;39098229;39511145;40825947;7937899;8015379;8234299;8399349;8406495;9164961;9837869", "class_list": "", "function": "ADORA3 activation promotes goblet cell differentiation via enhancing HMGCS2-mediated ketogenesis in ulcerative colitis., [RefSeq, PubMed]; G protein-coupled receptor (GPCR) for adenosine that plays significant roles in various physiological processes including immune regulation, cardioprotection and neuroprotection (PubMed:38627384, PubMed:40825947, PubMed:9837869). Also acts as a receptor for adenosines containing N(6)-methylated adenine (m6A) post-transcriptional modification, which are derived from the degradation of RNAs (mRNAs, rRNAs and tRNAs): activated by N(6)-methyladenosine (m6A), N(6),N(6)-dimethyladenosine (m6,6A) and N(6)-isopentenyladenosine (i6A) (PubMed:33472058, PubMed:39511145). Preferentially couples to the inhibitory G protein (Gi), leading to the suppression of adenylate cyclase activity and a reduction in intracellular cyclic AMP levels (PubMed:33472058, PubMed:38627384). Upon adenosine binding, mediates cardioprotection in cardiomyocytes through anti-apoptotic effects primarily via the ERK1/2 pathway as well as the PI3K pathway (PubMed:9837869). In the central nervous system, participates in the modulation of synaptic plasticity, including long-term potentiation (LTP) and long-term depression (LTD) in the hippocampus (By similarity). In lung mast cells, receptor activation contributes to the type I allergic response by facilitating mast cell degranulation and histamine release (By similarity). Highly expressed in inflammatory cells such as neutrophils and mast cells, inhibits neutrophil degranulation and reduces superoxide production, thereby modulating inflammatory responses (PubMed:9164961)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase (PubMed:8234299)., [UniProtKB, PubMed]; This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Alternative splicing results in multiple transcript variants. This gene shares its 5' terminal exon with some transcripts from overlapping GeneID:57413, which encodes an immunoglobulin domain-containing protein. [provided by RefSeq, Nov 2014]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "A2A3P4;P33765;Q6UWU0;Q9BYZ1", "ec_number_list": "", "go_molecular_function": "GO:0001609 G protein-coupled adenosine receptor activity;GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse;GO:0042734 presynaptic membrane;GO:0098685 Schaffer collateral - CA1 synapse", "go_biological_process": "GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007190 activation of adenylate cyclase activity;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "P0DMS8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P68133-1", "uniprot_id": "ACTS_HUMAN", "mass": 42051.0, "length": 377, "protein_name": "Actin, alpha skeletal muscle", "gene_name": "ACTA1", "organism": "Human", "refseq_name": "actin, alpha skeletal muscle", "refseq_ac": "NP_001091", "gene_names_uniprotkb": "ACTA1; ACTA", "gene_names_refseq": "ACTA1; ACTA; ASMA; CFTD1; CFTDM; CFTD; CMYO2A; CMYO2B; CMYO2C; CMYP2A; CMYP2B; CMYP2C; MPFD; NEM1; NEM2; NEM3; SHPM", "protein_names_uniprotkb": "Actin, alpha skeletal muscle; 3.6.4.-; Alpha-actin-1", "protein_names_refseq": "actin, alpha skeletal muscle; nemaline myopathy type 3", "tax_id": 9606, "disease": "aortic dissection (Disease Ontology:DOID:0080685); Baraitser-Winter syndrome 1 (Disease Ontology:DOID:0081112); congenital myopathy 2B (Disease Ontology:DOID:0081339); congenital myopathy 2C (Disease Ontology:DOID:0081340); autosomal dominant nonsyndromic deafness 20 (Disease Ontology:DOID:0110550); nemaline myopathy 3 (Disease Ontology:DOID:0110927); intestinal atresia (Disease Ontology:DOID:10486); Moyamoya disease (Disease Ontology:DOID:13099); patent ductus arteriosus (Disease Ontology:DOID:13832); thoracic aortic aneurysm (Disease Ontology:DOID:14004); progressive scapulohumeroperoneal distal myopathy (MONDO:MONDO:0014800)", "pathway": " (hsa:58); (R-HSA-390522); (R-HSA-9764561); (R-HSA-9913351); (R-HSA-9958825)", "pathway_count": 5, "publication_count": 109, "publication_id_list": "10022829;10189375;10441321;10508519;10545507;10747208;10893187;10932245;10942431;10958653;11166164;11237011;11333380;11352924;11430802;11495720;12189167;12921789;1319059;15175026;15198992;15236405;15336687;15468086;15520409;15592455;16427282;16501887;16524571;16945537;17387733;17389395;17705262;17905726;18083107;18555777;18764929;18991276;19015515;19346169;19946898;20044576;20371349;2183031;21908771;22036506;22117219;22159078;22223806;22442437;23271734;23301498;23650303;23673617;2405250;25502872;25635128;25938801;26228148;26374642;28317937;2907503;29274205;29351928;29557506;29786170;30397120;30429286;30444036;30626964;31217245;3282674;33214551;34019948;34215617;34357683;37217939;37273000;37315422;37419385;38142473;40596516;6190133;7510216;7512451;7527495;7547961;7592992;7686087;7844150;7925941;8043271;8140422;8234276;8268918;8349731;8576247;8607994;8626374;8627307;8662591;8662795;8798547;8845841;9214383;9405466;9412493;9652404;9864373", "class_list": "", "function": "A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy., [RefSeq, PubMed]; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells., [UniProtKB]; Alpha-SMA positive vascular mural cells suppress cyst formation in hemangioblastoma., [RefSeq, PubMed]; Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology., [RefSeq, PubMed]; Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects., [RefSeq, PubMed]; The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 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": 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": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "P02568;P99020;Q5T8M9", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.2;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.3.2.31;2.3.2.26;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005524 ATP binding;GO:0016787 hydrolase activity;GO:0043531 ADP binding;GO:0017022 myosin binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005884 actin filament;GO:0015629 actin cytoskeleton;GO:0030027 lamellipodium", "go_biological_process": "GO:0006936 muscle contraction;GO:0010628 positive regulation of gene expression;GO:0030240 skeletal muscle thin filament assembly;GO:0048741 skeletal muscle fiber development;GO:0090131 mesenchyme migration", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "P68133-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P18825-1", "uniprot_id": "ADA2C_HUMAN", "mass": 49522.0, "length": 462, "protein_name": "Alpha-2C adrenergic receptor", "gene_name": "ADRA2C", "organism": "Human", "refseq_name": "alpha-2C adrenergic receptor", "refseq_ac": "NP_000674", "gene_names_uniprotkb": "ADRA2C; ADRA2L2; ADRA2RL2", "gene_names_refseq": "ADRA2C; ADRA2L2; ADRA2RL2; ADRARL2; ALPHA2CAR", "protein_names_uniprotkb": "Alpha-2C adrenergic receptor; Alpha-2 adrenergic receptor subtype C4; Alpha-2C adrenoceptor; Alpha-2C adrenoreceptor; Alpha-2CAR", "protein_names_refseq": "adrenergic, alpha-2C-, receptor; alpha-2 adrenergic receptor subtype C4; alpha-2C adrenergic receptor; alpha-2C adrenoceptor; alpha-2C adrenoreceptor; alpha-2CAR; alpha2-AR-C4", "tax_id": 9606, "disease": "congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:152); (R-HSA-390696); (R-HSA-392023); (R-HSA-400042); (R-HSA-418594); (R-HSA-418597); (R-HSA-5683826)", "pathway_count": 7, "publication_count": 136, "publication_id_list": "10215710;10321720;10368295;10449730;10485905;10496952;10531390;10580105;10625644;10801795;10948191;10954748;11007482;11237011;11278984;11313909;11563989;12106601;12120503;12185598;12428542;12882447;1325798;1328250;1339284;1347957;1415726;14514350;15319474;15655528;1568474;15926889;15951850;16006481;16199866;16352729;16362076;1636732;16371464;16373322;16423266;1645720;16480771;16630564;16634148;16923326;17052695;17095603;17496061;17900700;18020944;18162464;18434541;1849000;1849485;18577758;18692472;1898081;19100526;19144824;19258039;1928448;1939224;1980236;19824815;20054143;20147294;20338813;20418254;20871122;21118696;2172775;23069847;23148172;23590306;23684610;23922714;24743970;24890609;2515193;2534964;25424900;2570461;2587265;2610270;2748346;27965369;2823383;2825170;2834384;28400472;2842764;28502923;29393594;29557506;2995821;3025863;3037072;31154438;31218733;3366248;33968037;34087483;34237656;34631;35051231;35258481;36010968;3755136;3801783;7559455;7595566;7597036;7641683;7746284;7937899;8015379;8099279;8277227;8314870;8396931;8406495;8428971;8522976;8527267;8564227;8636114;8662784;8778232;8997178;9371698;9605427;9707174;9760042;9813380;9920805", "class_list": "", "function": "Alpha-2 adrenergic receptors are G protein-coupled receptors for catecholamines that activate the G(i/o) protein pathway, thereby promoting adenylyl cyclase inhibition, ERK1/2 stimulation, and voltage-gated calcium channels suppression (PubMed:2842764). Control a variety of physiological processes, such as regulation of blood pressure, lipolysis and insulin release (PubMed:2842764). ADRA2A and ADRA2C mediates the presynaptic feedback inhibition of neurotransmitter release from noradrenergic nerve terminals in sympathetic and central nervous systems. ADRA2A inhibits transmitter release at high stimulation frequencies, whereas ADRA2C modulates neurotransmission at lower levels of nerve activity (By similarity). The rank order of potency for physiological agonists of ADRA2C is epinephrine > norepinephrine > dopamine (PubMed:2842764)., [UniProtKB, PubMed, UniProtKB]; Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]., [RefSeq]; Alpha2A- and alpha2C-adrenoceptor expression and functionality in postmortem prefrontal cortex of schizophrenia subjects., [RefSeq, PubMed]; Genetic biomarkers of life-threatening pheochromocytoma-induced cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic significance of alpha- and beta2-adrenoceptor gene expression in breast cancer patients., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "P35369;Q9HB49", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0004938 alpha2-adrenergic receptor activity;GO:0031694 alpha-2A adrenergic receptor binding;GO:0051379 epinephrine binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005886 plasma membrane", "go_biological_process": "GO:0006940 regulation of smooth muscle contraction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0043410 positive regulation of MAPK cascade;GO:0045666 positive regulation of neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "P18825-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y478-1", "uniprot_id": "AAKB1_HUMAN", "mass": 30382.0, "length": 270, "protein_name": "5'-AMP-activated protein kinase subunit beta-1", "gene_name": "PRKAB1", "organism": "Human", "refseq_name": "5'-AMP-activated protein kinase subunit beta-1", "refseq_ac": "NP_006244", "gene_names_uniprotkb": "PRKAB1; AMPK", "gene_names_refseq": "AMPK; HAMPKb; PRKAB1", "protein_names_uniprotkb": "5'-AMP-activated protein kinase subunit beta-1; AMPK subunit beta-1; AMPKb", "protein_names_refseq": "5'-AMP-activated protein kinase beta-1 subunit; 5'-AMP-activated protein kinase subunit beta-1; AMP-activated protein kinase beta subunit; AMPK beta -1 chain; AMPK beta 1; AMPK subunit beta-1; AMPKb; protein kinase, AMP-activated, beta 1 non-catalytic subunit; protein kinase, AMP-activated, noncatalytic, beta-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5564); (R-HSA-1445148); (R-HSA-1632852); (R-HSA-2151209); (R-HSA-380972); (R-HSA-5628897); (R-HSA-6804756); (R-HSA-9613354); (R-HSA-9619483); (R-HSA-9931269)", "pathway_count": 10, "publication_count": 224, "publication_id_list": "10329961;10435622;10500146;10570149;10601328;10604467;10673500;10673501;10710310;10716435;10745013;10884347;10980602;11018120;11029283;11034341;11096062;11237011;11239457;11340051;11447225;11481440;11486029;11511362;11545734;11546806;11551930;11740489;11780126;11825910;11959846;12064478;12161445;12203114;12393879;12438239;12453409;12702766;12714747;12805220;12851404;12869586;12906785;12914926;13298683;13538944;14511394;14517248;14614828;14651849;14702041;14985505;15053879;15105503;15187094;15223;15579580;15589136;15591024;15866171;15919790;15971998;16140933;16322561;16413492;16636147;16728594;16760263;16839880;16880201;16943194;16963840;17028174;17099248;17108107;17298220;17307971;17349958;17369524;17486094;17540029;17591690;17618624;17712357;17728241;17995453;18088087;18198340;18321988;18344994;18403135;18439900;18490454;18669648;18691976;18692468;19013499;19112161;19113821;19121998;19211835;19252894;19322194;19369195;19439913;19487573;19590496;19651622;19690332;19822145;19855179;19898463;19965871;20059746;20068231;20080666;20166139;20182617;20230923;20351271;20378837;20631154;20701589;20713597;20837646;20921139;20937701;20959462;21177865;21205641;21258367;21317932;21383122;21406692;21451146;21454505;21454690;21460621;21460634;21680840;21750704;21819378;21907143;21958598;22170151;22363791;22682742;23000554;23186163;23202584;23481700;23485397;23676219;23685627;23727157;23775793;23884233;24066844;24145406;24275569;24366874;24383451;24718924;24747438;24874608;24954904;25484072;2550440;25505266;25568151;25579166;25792737;25892735;25961502;26375851;26652033;26831516;26902588;26992070;27846572;27920218;28228285;28649982;28832583;28834231;28904123;28924239;29242379;29557506;29769354;30118680;30315122;30429286;31154438;31844290;31848261;31937595;32157095;32161166;33298915;33592498;33633747;33968037;34357683;37938771;38167670;38233384;38266576;38322520;39894887;5666113;7628435;7979252;7989588;8094051;8119488;8549768;8664345;8779952;9224708;9305909;9374491;9925639;9926927", "class_list": "", "function": "Direct effects of adipocyte lipolysis on AMPK through intracellular long-chain acyl-CoA signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Endothelial H2S-AMPK dysfunction upregulates the angiocrine factor PAI-1 and contributes to lung fibrosis., [RefSeq, PubMed]; Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Beta non-catalytic subunit acts as a scaffold on which the AMPK complex assembles, via its C-terminus that bridges alpha (PRKAA1 or PRKAA2) and gamma subunits (PRKAG1, PRKAG2 or PRKAG3)., [UniProtKB]; Phosphorylation of INF2 by AMPK promotes mitochondrial fission and oncogenic function in endometrial cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. [provided by RefSeq, Jul 2008]., [RefSeq]; [Extracellular Matrix Stiffness Induces Mitochondrial Morphological Heterogeneity via AMPK Activation]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9UBV0;Q9UE20;Q9UEX2;Q9Y6V8", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0006633 fatty acid biosynthetic process;GO:0031669 cellular response to nutrient levels;GO:0120162 positive regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 22.7, "record_id": "Q9Y478-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08910-1", "uniprot_id": "ABHD2_HUMAN", "mass": 48315.0, "length": 425, "protein_name": "Monoacylglycerol lipase ABHD2", "gene_name": "ABHD2", "organism": "Human", "refseq_name": "monoacylglycerol lipase ABHD2 isoform 1", "refseq_ac": "NP_008942", "gene_names_uniprotkb": "ABHD2; LABH2", "gene_names_refseq": "ABHD2; HS1-2; LABH2; PHPS1-2", "protein_names_uniprotkb": "Monoacylglycerol lipase ABHD2; 2-arachidonoylglycerol hydrolase; 3.1.1.23; 3.1.1.6; 3.1.1.79; Abhydrolase domain-containing protein 2; Acetylesterase; Lung alpha/beta hydrolase 2; Progesterone-sensitive lipase; Protein PHPS1-2", "protein_names_refseq": "2-arachidonoylglycerol hydrolase; abhydrolase domain-containing protein 2; acetylesterase; alpha/beta hydrolase domain containing protein 2; lung alpha/beta hydrolase 2; monoacylglycerol lipase ABHD2 isoform 1; monoacylglycerol lipase ABHD2; progesterone-sensitive lipase; protein PHPS1-2; testicular tissue protein Li 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:11057)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "11237011;17980156;20007591;23481700;25418920;25576301;25645385;25880248;25892735;26154972;26811146;26929215;26989199;26992070;27247428;27543614;27600516;27862975;28218747;28228285;2843827;28514659;28649982;28813576;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30779550;30833945;31092671;31154438;31217245;31222486;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33592498;33648800;33691108;33717175;33968037;33981976;34087483;34185709;34509645;34561969;35051231;35251023;35318648;35580925;36010968;36241641;36284347;37298205;37938771;38197032", "class_list": "", "function": "Abhd2, a Candidate Gene Regulating Airway Remodeling in COPD via TGF-beta. Publication Status: Online-Only, [RefSeq, PubMed]; Circular RNA circ_0079593 enhances malignant melanoma progression by the regulation of the miR-573/ABHD2 axis., [RefSeq, PubMed]; Membrane Cholesterol Inhibits Progesterone-Mediated Sperm Function through the Possible Involvement of ABHD2. Publication Status: Online-Only, [RefSeq, PubMed]; Our results showed that the ABHD2 was expressed in atherosclerotic lesions, and that the ABHD2 expression was significantly higher in the patients with UA than with SA., [RefSeq, PubMed]; Patients with selective immunoglobulin (Ig)A deficiency have a highly significant increase of homozygousity of HS1.2 allele *1, with an increase of 2.6-fold; the HS1.2 polymorphism influences Ig seric production, but not IgG switch., [RefSeq, PubMed]; Progesterone-dependent acylglycerol lipase that catalyzes hydrolysis of endocannabinoid arachidonoylglycerol (AG) from cell membrane (PubMed:26989199). Acts as a progesterone receptor: progesterone-binding activates the acylglycerol lipase activity, mediating degradation of 1-arachidonoylglycerol (1AG) and 2-arachidonoylglycerol (2AG) to glycerol and arachidonic acid (AA) (PubMed:26989199). Also displays an ester hydrolase activity against acetyl ester, butanoate ester and hexadecanoate ester (PubMed:27247428). Plays a key role in sperm capacitation in response to progesterone by mediating degradation of 2AG, an inhibitor of the sperm calcium channel CatSper, leading to calcium influx via CatSper and sperm activation (PubMed:26989199). May also play a role in smooth muscle cells migration (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; These results show that joint tests of main effects and gene-gene interaction reveal associations at some novel loci that were missed when considering main effects alone., [RefSeq, PubMed]; This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the cell membrane. This leads to activation of the sperm calcium channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jan 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53G48;Q53GU0;Q5FVD9;Q8TC79", "ec_number_list": "3.5.1.99;3.1.1.-;3.1.1.1;3.1.1.56;3.1.1.84;3.1.1.3;3.1.1.23;3.1.-.-;3.1.1.32;3.1.1.34;3.3.2.9;3.1.1.79;3.1.1.6;3.1.1.5;3.1.1.13;3.1.1.4;3.1.1.26;3.1.1.116;2.3.1.51", "go_molecular_function": "GO:0047372 monoacylglycerol lipase activity;GO:0003707 nuclear steroid receptor activity;GO:0042562 hormone binding;GO:0004806 triacylglycerol lipase activity;GO:0008126 acetylesterase activity", "go_cellular_component": "GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum;GO:0097524 sperm plasma membrane", "go_biological_process": "GO:0046464 acylglycerol catabolic process;GO:0007340 acrosome reaction;GO:0032570 response to progesterone;GO:0043401 steroid hormone receptor signaling pathway;GO:0048240 sperm capacitation", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "P08910-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15204-1", "uniprot_id": "ADEC1_HUMAN", "mass": 52775.0, "length": 470, "protein_name": "ADAM DEC1", "gene_name": "ADAMDEC1", "organism": "Human", "refseq_name": "ADAM DEC1 isoform 2", "refseq_ac": "NP_001138743", "gene_names_uniprotkb": "ADAMDEC1", "gene_names_refseq": "ADAMDEC1; M12.219", "protein_names_uniprotkb": "ADAM DEC1; 3.4.24.-; A disintegrin and metalloproteinase domain-like protein decysin-1; ADAM-like protein decysin-1", "protein_names_refseq": "ADAM DEC1 isoform 2; ADAM-like protein decysin-1; a disintegrin and metalloproteinase domain-like protein decysin-1; decysin; disintegrin protease", "tax_id": 9606, "disease": "", "pathway": " (hsa:27299)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;12037602;14632642;16335952;19139490;23481700;24715725;25802875;25892735;28514659;28832583;29391424;29557506;29671580;31154438;31217245;31627897;31844290;32125861;32350084;32378728;32983136;34185709;35051231;35178875;37074911;37187249;37938771;38063920;9271581", "class_list": "", "function": "ADAMDEC1 induces EMT and promotes colorectal cancer cells metastasis by enhancing Wnt/beta-catenin signaling via negative modulation of GSK-3beta., [RefSeq, PubMed]; Knockdown of ADAMDEC1 ameliorates ox-LDL-induced endothelial cell injury and atherosclerosis progression. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of ADAMDEC1 inhibits the progression of glioma in vitro., [RefSeq, PubMed]; May play an important role in the control of the immune response and during pregnancy., [UniProtKB]; Molecular evolution by duplication in a metalloprotease gene cluster on chromosome 8p12, [RefSeq, PubMed]; The ADAMDEC1 plays a pro-inflammatory role in rosacea via modulating the M1 polarization of macrophages., [RefSeq, PubMed]; This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play an important role in dendritic cell function and their interactions with germinal center T cells. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of ADAMDEC1 correlates with tumor progression and predicts poor prognosis in non-small cell lung cancer (NSCLC) via the PI3K/AKT pathway., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 25, "reported_interactions": 0, "missing_score": 831, "biomarker_type": "", "glycan_count": 31, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B7ZAK5", "ec_number_list": "", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0006955 immune response;GO:0007162 negative regulation of cell adhesion", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "O15204-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15254-1", "uniprot_id": "ACOX3_HUMAN", "mass": 77629.0, "length": 700, "protein_name": "Peroxisomal acyl-coenzyme A oxidase 3", "gene_name": "ACOX3", "organism": "Human", "refseq_name": "peroxisomal acyl-coenzyme A oxidase 3 isoform b", "refseq_ac": "NP_001095137", "gene_names_uniprotkb": "ACOX3; BRCOX; PRCOX", "gene_names_refseq": "ACOX3", "protein_names_uniprotkb": "Peroxisomal acyl-coenzyme A oxidase 3; 1.3.3.6; BRCACox; Branched-chain acyl-CoA oxidase; Pristanoyl-CoA oxidase", "protein_names_refseq": "BRCACox; acyl-Coenzyme A oxidase 3, pristanoyl; branched-chain acyl-CoA oxidase; peroxisomal acyl-coenzyme A oxidase 3 isoform b; peroxisomal acyl-coenzyme A oxidase 3; pristanoyl-CoA oxidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:8310); (R-HSA-389887); (R-HSA-9033241)", "pathway_count": 3, "publication_count": 150, "publication_id_list": "10022913;10092594;10486279;10562279;10673331;11060344;11060359;11101887;11237011;11546814;11781871;11931631;12456682;12559034;12562770;12578380;12717447;12885776;15060085;15099582;15545321;15599942;15858711;16385454;16756494;16854980;17007944;17726030;18359941;18712838;19197237;19208625;19369195;19584060;19632994;20178365;20677014;20877624;21554508;21976670;21980954;22002062;22057399;22223895;22371489;22747494;23481700;2351134;23963456;24235149;24397554;24714562;24715725;24865970;25016021;25538232;25576301;25645385;25802875;25854684;25880248;25892735;26086376;26138649;26154972;26220973;26344566;26811146;26992070;27597759;27846572;27920218;28228285;28467828;28514659;28521612;28611990;28765278;28787099;28832583;28834231;28904123;29242379;29287774;29331515;29393594;29437277;29508533;29557506;29632711;29769354;29786170;30315122;30379171;30410026;30429286;31154438;31217245;31844290;31848261;31975215;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34509645;34561969;34932366;35051231;35154160;35580925;36010968;36241641;37938771;7649182;7719337;7790377;8387517;8824437;8858165;8902629;8943006;8991089;9089413;9090381;9090382;9090383;9271077;9539740;9653144;9668159;9837948", "class_list": "", "function": "ACOX3 Dysfunction as a Potential Cause of Recurrent Spontaneous Vasospasm of Internal Carotid Artery., [RefSeq, PubMed]; ACOX3, which is expressed at extremely low level in other human organs studied including the liver, might contribute significantly to peroxisomal branched chain fatty acid beta-oxidation in human prostate tissue and some prostate cancer cell lines, [RefSeq, PubMed]; Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]., [RefSeq]; Involved in peroxisomal beta-oxidation of branched-chain fatty acids (BCFAs). Catalyzes the initial and rate-limiting dehydrogenation step that removes two hydrogen molecules and introduces a trans double bond between the alpha and beta carbons of the acyl CoA molecules while generating hydrogen peroxide as a by-product (PubMed:29287774). Metabolizes multi-methyl-branched fatty acyl-CoA esters such as (2S)-pristanoyl-CoA, displaying redundancy with ACOX3 (PubMed:29287774). Can oxidize straight-chain mono- and dicarboxylyl fatty acyl-CoAs with lower efficiency (By similarity) (PubMed:29287774)., [UniProtKB, 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]; Oxidizes the CoA-esters of 2-methyl-branched fatty acids., [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": 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": "Q96AJ8", "ec_number_list": "3.6.1.-;3.6.1.77;3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.42;1.3.3.6;2.3.2.27;1.1.1.42;1.11.1.6;3.4.24.56;1.4.3.3;2.6.1.51;2.6.1.44;2.3.1.176;2.3.1.16;2.3.1.155;2.3.2.36;1.14.13.39;4.1.3.4;2.3.1.137;2.3.1.7;5.3.3.21;2.3.1.65;3.4.21.-;1.5.3.13;3.4.21.53;1.4.3.1;1.1.1.184;1.3.1.38;1.3.1.124;1.1.3.15;1.5.3.1;1.5.3.7;5.1.99.4;4.1.2.63;1.2.3.5;2.5.1.18", "go_molecular_function": "GO:0005504 fatty acid binding;GO:0050660 flavin adenine dinucleotide binding;GO:0071949 FAD binding;GO:0016402 pristanoyl-CoA oxidase activity;GO:0003997 acyl-CoA oxidase activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "O15254-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95870-1", "uniprot_id": "ABHGA_HUMAN", "mass": 63243.0, "length": 558, "protein_name": "Phosphatidylserine lipase ABHD16A", "gene_name": "ABHD16A", "organism": "Human", "refseq_name": "phosphatidylserine lipase ABHD16A isoform b", "refseq_ac": "NP_001170986", "gene_names_uniprotkb": "ABHD16A; BAT5; G5; NG26; PP199", "gene_names_refseq": "ABHD16A; BAT5; D6S82E; NG26; PP199; SPG86; hBAT5", "protein_names_uniprotkb": "Phosphatidylserine lipase ABHD16A; 3.1.-.-; 3.1.1.23; Abhydrolase domain-containing protein 16A; Alpha/beta hydrolase domain-containing protein 16A; HLA-B-associated transcript 5; Monoacylglycerol lipase ABHD16A; Protein G5; hBAT5", "protein_names_refseq": "HLA-B associated transcript 5; abhydrolase domain-containing protein 16A; alpha/beta hydrolase domain-containing protein 16A; monoacylglycerol lipase ABHD16A; phosphatidylserine lipase ABHD16A isoform b; phosphatidylserine lipase ABHD16A; protein ABHD16A; protein G5", "tax_id": 9606, "disease": "hereditary spastic paraplegia 86 (Disease Ontology:DOID:0112342)", "pathway": " (hsa:7920)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;12665801;14656967;15498874;18835879;23481700;25290914;26154972;26375851;26992070;27452731;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29632711;29769354;29786170;30315122;30484775;30779550;31154438;31844290;31848261;32157095;32357974;32387766;32462874;32938616;32983136;33392160;33537174;33912179;34087483;34185709;34357683;34489854;34509645;34587489;34866177;34932366;35051231;35580925;36010968;36284347;38665916", "class_list": "", "function": "A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]., [RefSeq]; A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face., [RefSeq, PubMed]; ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies., [RefSeq, PubMed]; Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Phosphatidylserine (PS) lipase that mediates the hydrolysis of phosphatidylserine to generate lysophosphatidylserine (LPS) (By similarity). LPS constitutes a class of signaling lipids that regulates immunological and neurological processes (By similarity). Has no activity towards diacylglycerol, triacylglycerol or lysophosphatidylserine lipase (PubMed:25290914). Also has monoacylglycerol lipase activity, with preference for 1-(9Z,12Z-octadecadienoyl)-glycerol (1-LG) and 2-glyceryl-15-deoxy-Delta(12,14)-prostaglandin J2 (15d-PGJ(2)-G) (PubMed:25290914)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2BEY3;B7Z4R6;Q5SRR1;Q5SRR2;Q8WYH0;Q9NW33", "ec_number_list": "3.5.1.99;3.1.1.-;3.1.1.1;3.1.1.56;3.1.1.84;3.1.1.4;3.1.1.3;3.1.1.23;3.1.-.-;3.3.2.9;3.1.1.79;3.1.1.6;3.1.1.13;3.1.1.26;3.1.1.5;3.1.1.32;2.3.1.-;3.1.1.111", "go_molecular_function": "GO:0004620 phospholipase activity;GO:0047372 monoacylglycerol lipase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0052651 monoacylglycerol catabolic process;GO:1905344 prostaglandin catabolic process;GO:0006660 phosphatidylserine catabolic process;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "O95870-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P00505-1", "uniprot_id": "AATM_HUMAN", "mass": 47518.0, "length": 430, "protein_name": "Aspartate aminotransferase, mitochondrial", "gene_name": "GOT2", "organism": "Human", "refseq_name": "aspartate aminotransferase, mitochondrial isoform 2 precursor", "refseq_ac": "NP_001273149", "gene_names_uniprotkb": "GOT2; KYAT4", "gene_names_refseq": "DEE82; GOT2; KAT4; KATIV; KYAT4; mitAAT", "protein_names_uniprotkb": "Aspartate aminotransferase, mitochondrial; 2.6.1.1; 2.6.1.7; FABP-1; FABPpm; Fatty acid-binding protein; Glutamate oxaloacetate transaminase 2; Kynurenine aminotransferase 4; Kynurenine aminotransferase IV; Kynurenine--oxoglutarate transaminase 4; Kynurenine--oxoglutarate transaminase IV; Plasma membrane-associated fatty acid-binding protein; Transaminase A; mAspAT", "protein_names_refseq": "FABP-1; FABPpm; aspartate aminotransferase 2; aspartate aminotransferase, mitochondrial isoform 2 precursor; aspartate aminotransferase, mitochondrial; aspartate transaminase 2; fatty acid-binding protein; glutamate oxaloacetate transaminase 2; glutamic-oxaloacetic transaminase 2, mitochondrial; kynurenine aminotransferase 4; kynurenine aminotransferase IV; kynurenine--oxoglutarate transaminase 4; kynurenine--oxoglutarate transaminase IV; mAspAT; plasma membrane-associated fatty acid-binding protein; transaminase A", "tax_id": 9606, "disease": "early infantile epileptic encephalopathy (Disease Ontology:DOID:0050709); developmental and epileptic encephalopathy 82 (Disease Ontology:DOID:0080715); neurodegenerative disease (Disease Ontology:DOID:1289); acute kidney failure (Disease Ontology:DOID:3021); schizophrenia (Disease Ontology:DOID:5419); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2806); (R-HSA-1614558); (R-HSA-389661); (R-HSA-8963693); (R-HSA-8964539); (R-HSA-9856872)", "pathway_count": 6, "publication_count": 159, "publication_id_list": "10085079;10212249;10369257;10484776;10524214;10642534;10777549;10978532;11237011;11566871;11903050;12054821;12602510;12865426;12871026;12899834;13681368;13681370;14170323;14716746;15340920;15364907;15565635;15802217;1601857;16195549;16212419;16267323;16467855;16616139;16669630;16730026;16920706;17027983;1703535;17088322;17135237;17194761;1737786;17581819;17669354;18005987;18083107;18215067;18491316;18872649;19261609;19338303;19352492;19608861;19625201;19641205;19648921;19678840;19807691;20018850;20068231;20603179;20657015;2158891;21998747;22304711;2241899;22516612;22544926;22718265;23024808;23038267;23186163;23413359;2363689;236774;23698001;24155240;24275569;24657844;25418920;25637873;2564390;25645385;25697095;25747990;25865492;26327310;26374642;26437775;26768311;26811146;26858947;26902786;27045997;2722838;27484215;2775751;28228285;28412453;28510447;28832583;28904123;29055825;29242379;29317506;29372909;29431636;29557506;30315122;30429286;30444036;3052244;31422819;31538237;31844290;3207426;32119511;32156684;32157095;32357974;32387766;32488085;32938616;33214551;33298915;33537174;33592498;33968037;34019948;3416563;34357683;34433824;34509645;34725712;35083852;35154160;35580925;35895805;36010968;36215666;36241641;36284347;37938771;38095985;38153082;38665916;38838015;4052435;40914422;429360;4687397;500817;6250440;6819292;7883047;8294935;8597574;9070219;9163533;9514741;9537447;9820813", "class_list": "", "function": "Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). As a member of the malate-aspartate shuttle, it has a key role in the intracellular NAD(H) redox balance. Is important for metabolite exchange between mitochondria and cytosol, and for amino acid metabolism. Facilitates cellular uptake of long-chain free fatty acids., [UniProtKB, PubMed, PubMed]; GOT2 Silencing Promotes Reprogramming of Glutamine Metabolism and Sensitizes Hepatocellular Carcinoma to Glutaminase Inhibitors., [RefSeq, PubMed]; Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]., [RefSeq]; Low expression of GOT2 promotes tumor progress and predicts poor prognosis in hepatocellular carcinoma., [RefSeq, PubMed]; Surgical resection of lung cancer inhibits mRNA expression of GOT2 gene encoding kynurenine aminotransferase in leukocytes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DJA6;E7ERW2;Q53FL3;Q9BWA3", "ec_number_list": "2.6.1.7;2.6.1.1;2.6.1.3;2.6.1.64;4.4.1.13;2.6.1.63;2.6.1.39;2.6.1.4;2.6.1.73", "go_molecular_function": "GO:0003723 RNA binding;GO:0016212 kynurenine-oxoglutarate transaminase activity;GO:0030170 pyridoxal phosphate binding;GO:0004069 L-aspartate:2-oxoglutarate aminotransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006103 2-oxoglutarate metabolic process;GO:0006533 L-aspartate catabolic process;GO:0006536 glutamate metabolic process;GO:0045471 response to ethanol;GO:0006531 aspartate metabolic process", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "P00505-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P02763-1", "uniprot_id": "A1AG1_HUMAN", "mass": 23540.0, "length": 201, "protein_name": "Alpha-1-acid glycoprotein 1", "gene_name": "ORM1", "organism": "Human", "refseq_name": "alpha-1-acid glycoprotein 1 precursor", "refseq_ac": "NP_000598", "gene_names_uniprotkb": "ORM1; AGP1", "gene_names_refseq": "A1AG1; AGP-A; AGP1; HEL-S-153w; ORM1; ORM", "protein_names_uniprotkb": "Alpha-1-acid glycoprotein 1; AGP 1; OMD 1; Orosomucoid-1", "protein_names_refseq": "AGP 1; OMD 1; alpha-1-acid glycoprotein 1 precursor; alpha-1-acid glycoprotein 1; epididymis secretory sperm binding protein Li 153w", "tax_id": 9606, "disease": "", "pathway": " (hsa:5004); (R-HSA-114608); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "12754519;1435334;14630798;14760718;15084671;15253437;15297306;1567356;16335952;16740002;17008009;17321687;18823996;19159218;19838169;22171320;23090970;23640497;23650620;2409529;24279413;24530628;24841998;25153361;26791533;27726376;2822385;29391424;29671580;29741879;30237853;31154438;32125861;33889819;34725484;35272364;35765957;36284347;36462134;36696913;37074911;37471146;37640741;3770479;4561179;4603214;4711474;6457647;8467233;8692836;9050929", "class_list": "", "function": "Evaluation of IFIT3 and ORM1 as Biomarkers for Discriminating Active Tuberculosis from Latent Infection., [RefSeq, PubMed]; Functions as a transport protein in the blood stream. Binds various ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability in the body. Appears to function in modulating the activity of the immune system during the acute-phase reaction., [UniProtKB, PubMed, PubMed]; Integrated GWAS and Gene Expression Suggest ORM1 as a Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk., [RefSeq, PubMed]; Multiallelic Copy Number Variation in ORM1 is Associated with Plasma Cell-Free DNA Levels as an Intermediate Phenotype for Venous Thromboembolism., [RefSeq, PubMed]; ORM 1 as a biomarker of increased vascular invasion and decreased sorafenib sensitivity in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Orosomucoid 1 promotes colorectal cancer progression and liver metastasis by affecting PI3K/AKT pathway and inducing macrophage M2 polarization. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "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": 19, "reported_interactions": 0, "missing_score": 297, "biomarker_type": "", "glycan_count": 241, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B7ZKQ5;Q5T539;Q5U067;Q8TC16", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031093 platelet alpha granule lumen;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0006954 inflammatory response;GO:0006953 acute-phase response;GO:0032715 negative regulation of interleukin-6 production;GO:0032720 negative regulation of tumor necrosis factor production;GO:0002682 regulation of immune system process", "synthesized_glycan_count": 0, "hit_score": 29.9, "record_id": "P02763-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07510-1", "uniprot_id": "ACHG_HUMAN", "mass": 57883.0, "length": 517, "protein_name": "Acetylcholine receptor subunit gamma", "gene_name": "CHRNG", "organism": "Human", "refseq_name": "acetylcholine receptor subunit gamma precursor", "refseq_ac": "NP_005190", "gene_names_uniprotkb": "CHRNG; ACHRG", "gene_names_refseq": "ACHRG; CHRNG", "protein_names_uniprotkb": "Acetylcholine receptor subunit gamma", "protein_names_refseq": "acetylcholine receptor subunit gamma precursor; acetylcholine receptor subunit gamma; acetylcholine receptor, muscle, gamma subunit; acetylcholine receptor, nicotinic, gamma (muscle); cholinergic receptor, nicotinic gamma; cholinergic receptor, nicotinic, gamma (muscle); cholinergic receptor, nicotinic, gamma polypeptide", "tax_id": 9606, "disease": "contractures, pterygia, and spondylocarpotarsal fusion syndrome (Disease Ontology:DOID:0080110)", "pathway": " (hsa:1146); (R-HSA-629587)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "16826520;16826531;19059502;24715725;28228285;29557506;30461311;30868735;31844290;32983136;34932366;3967651;7688301;8987816", "class_list": "", "function": "A homozygous nonsense CHRNG variant c.136C>T (p.R46*), predicted to produce a truncated protein that leads to acetylcholine receptor deficiency was detected in a consanguineous Pakistani family with Escobar syndrome., [RefSeq, PubMed]; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane., [UniProtKB]; Our study contributes to further define the phenotypic spectrum of CHRNG-related nonlethal MPS, including muscle imaging features, which may be useful in distinguishing it from other diffuse arthrogryposis entities. Review article, [RefSeq, PubMed]; The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KWM8;Q14DU4;Q53RG2", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0015464 acetylcholine receptor activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:0015267 channel activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0045202 synapse;GO:0045211 postsynaptic membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0003009 skeletal muscle contraction;GO:0006936 muscle contraction;GO:0007165 signal transduction;GO:0095500 acetylcholine receptor signaling pathway;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "P07510-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08172-1", "uniprot_id": "ACM2_HUMAN", "mass": 51715.0, "length": 466, "protein_name": "Muscarinic acetylcholine receptor M2", "gene_name": "CHRM2", "organism": "Human", "refseq_name": "muscarinic acetylcholine receptor M2", "refseq_ac": "NP_000730", "gene_names_uniprotkb": "CHRM2", "gene_names_refseq": "CHRM2; HM2", "protein_names_uniprotkb": "Muscarinic acetylcholine receptor M2", "protein_names_refseq": "7TM receptor; acetylcholine receptor, muscarinic 2; muscarinic M2 receptor; muscarinic acetylcholine receptor M2", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); Chagas disease (Disease Ontology:DOID:12140); major depressive disorder (Disease Ontology:DOID:1470); depressive disorder (Disease Ontology:DOID:1596); asthma (Disease Ontology:DOID:2841); bipolar disorder (Disease Ontology:DOID:3312); schizophrenia (Disease Ontology:DOID:5419); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1129); (R-HSA-390648); (R-HSA-418594); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 5, "publication_count": 247, "publication_id_list": "10097102;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11007482;11071885;11076969;11082044;11231140;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12120503;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12847086;12944396;12952949;12958364;1317852;1346637;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15014171;15134832;15229186;15252009;15260957;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15802264;15895077;15916959;15951850;16103228;16159959;16215232;16250841;16326391;16410077;16459302;16460808;16516836;16548883;16634148;16707488;16723738;16798879;16880396;16903783;16923326;17018281;17035995;17158794;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18199683;18388313;18434541;1847920;18577758;18775314;18790740;18819912;18981233;19092055;19140243;19287005;19296720;19458185;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;1994002;20033059;20059951;20211604;20231386;20351096;20428113;20448150;20826345;20946875;20976005;21102408;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22222704;22222706;22233676;22278061;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23297414;23536704;23823722;23861397;23891661;24130457;24186068;24256733;24384571;24581490;24587893;24680432;24746795;24789820;24839481;24966051;25107275;25303366;25341920;2534964;25502048;26042225;26403691;26829388;2748346;28327676;2834384;2890644;29557506;29715053;3037705;30825602;31211471;32007426;3272174;33141586;3417785;3443095;36215666;36690613;37209686;37217939;38175886;38185384;38683874;5497851;6146630;7569928;7822302;7877694;7937899;8015379;8097411;8406495;8524399;8552632;8553074;8837779;8925880;9092476;9100026;9169477;9303539;9427626;9428629;9635431;9647869;9723620;9736607;9812899", "class_list": "", "function": "M2 muscarinic receptors negatively modulate cell migration in human glioblastoma cells., [RefSeq, PubMed]; Muscarinic receptor for acetylcholine, a neurotransmitter found in the brain, neuromuscular junctions and the autonomic ganglia (PubMed:24256733, PubMed:3443095, PubMed:36690613). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase (PubMed:36690613). CHRM2 is coupled to G(i)/G(o) (GNAI1 or GNAO1) G proteins and mediates signaling by inhibiting adenylate cyclase activity (PubMed:36690613)., [UniProtKB, PubMed, PubMed, PubMed]; The C-terminus of the prototypical M2 muscarinic receptor localizes to the mitochondria and regulates cell respiration under stress conditions. Publication Status: Online-Only, [RefSeq, PubMed]; The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "reported_glycation": 0, "reported_snv": 41, "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": "Q4VBK6;Q9P1X9", "ec_number_list": "", "go_molecular_function": "GO:0016907 G protein-coupled acetylcholine receptor activity;GO:1990763 arrestin family protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite;GO:0045202 synapse;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0006940 regulation of smooth muscle contraction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007197 adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway;GO:0007207 phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 25.0, "record_id": "P08172-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08913-1", "uniprot_id": "ADA2A_HUMAN", "mass": 50647.0, "length": 465, "protein_name": "Alpha-2A adrenergic receptor", "gene_name": "ADRA2A", "organism": "Human", "refseq_name": "alpha-2A adrenergic receptor", "refseq_ac": "NP_000672", "gene_names_uniprotkb": "ADRA2A; ADRA2R; ADRAR", "gene_names_refseq": "ADRA2A; ADRA2R; ADRA2; ADRAR; ALPHA2AAR; FPLD8", "protein_names_uniprotkb": "Alpha-2A adrenergic receptor; Alpha-2 adrenergic receptor subtype C10; Alpha-2A adrenoceptor; Alpha-2A adrenoreceptor; Alpha-2AAR", "protein_names_refseq": "adrenergic, alpha-2A-, receptor; alpha-2 adrenergic receptor subtype C10; alpha-2-adrenergic receptor, platelet type; alpha-2A adrenergic receptor; alpha-2A adrenoceptor; alpha-2A adrenoreceptor; alpha-2AAR subtype C10", "tax_id": 9606, "disease": "familial partial lipodystrophy (Disease Ontology:DOID:0050440); alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); hypertension (Disease Ontology:DOID:10763); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); depressive disorder (Disease Ontology:DOID:1596); anxiety disorder (Disease Ontology:DOID:2030); morphine dependence (Disease Ontology:DOID:2560); substance abuse (Disease Ontology:DOID:302); type 2 diabetes mellitus (Disease Ontology:DOID:9352); lipodystrophy, familial partial, type 8 (MONDO:MONDO:0958022)", "pathway": " (hsa:150); (R-HSA-390696); (R-HSA-392023); (R-HSA-400042); (R-HSA-418594); (R-HSA-418597); (R-HSA-5683826)", "pathway_count": 7, "publication_count": 140, "publication_id_list": "10215710;10321720;10368295;10449730;10485905;10496952;10531390;10580105;10625644;10948191;10954748;11007482;11278984;11313909;11563989;11732925;11888275;12106601;12120503;12185598;12428542;12882447;1325798;1328250;1339284;1347957;1415726;14514350;15655528;1568474;15926889;15951850;16006481;16199866;16352729;1636732;16371464;16373322;16423266;1645720;16480771;16567612;16630564;16634148;1678390;1678850;16923326;17052695;17095603;17496061;17900700;18020944;18162464;18434541;1849000;1849485;18577758;18692472;1898081;19100526;19144824;19258039;1928448;1939224;19651622;1980236;19824815;20054143;20147294;20338813;20418254;20871122;21118696;2170371;2172775;23069847;23105096;23148172;23590306;23684610;23922714;24743970;24890609;2515193;2534964;25424900;2568356;2570461;2587265;2610270;27376152;2748346;27965369;2823383;2825170;2834384;28400472;28467828;28502923;29351928;2995821;3025863;3037072;32387766;3366248;34631;35051231;35245122;35494241;37310179;3755136;37828025;3801783;39028822;7559455;7595566;7597036;7641683;7746284;7876239;7937899;8015379;8099279;8277227;8314870;8396931;8406495;8428971;8522976;8527267;8564227;8636114;8662784;8778232;8997178;9605427;9707174;9760042;9813380;9920805", "class_list": "", "function": "ADRA2A and IRX1 are putative risk genes for Raynaud's phenomenon. Publication Status: Online-Only, [RefSeq, PubMed]; Alpha-2 adrenergic receptors are G protein-coupled receptors for catecholamines that activate the G(i/o) protein pathway, thereby promoting adenylyl cyclase inhibition, ERK1/2 stimulation, and voltage-gated calcium channels suppression (PubMed:2170371, PubMed:23105096, PubMed:2568356, PubMed:35245122, PubMed:27376152). Control a variety of physiological processes, such as regulation of blood pressure, lipolysis and insulin release (PubMed:2568356, PubMed:27376152). ADRA2A and ADRA2C mediates the presynaptic feedback inhibition of neurotransmitter release from noradrenergic nerve terminals in sympathetic and central nervous systems. ADRA2A inhibits transmitter release at high stimulation frequencies, whereas ADRA2C modulates neurotransmission at lower levels of nerve activity (By similarity). The rank order of potency for agonists of ADRA2A is oxymetazoline > clonidine > epinephrine > norepinephrine > phenylephrine > dopamine > p-synephrine > p-tyramine > serotonin = p-octopamine. For antagonists, the rank order is yohimbine > phentolamine = mianserine > chlorpromazine = spiperone = prazosin > propanolol > alprenolol = pindolol (PubMed:2170371, PubMed:2568356)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. The alpha-2-adrenergic receptors are a type of adrenergic receptors (for adrenaline or epinephrine), which inhibit adenylate cyclase. These receptors include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. They are involved in regulating the release of neurotransmitter molecules from sympathetic nerves and from adrenergic neurons in the central nervous system. The sympathetic nervous system regulates cardiovascular function by activating adrenergic receptors in the heart, blood vessels and kidney. Studies in mouse revealed that both the alpha2A and alpha2C receptor subtypes were required for presynaptic transmitter release from the sympathetic nervous system in the heart and from central noradrenergic neurons. The alpha-2-adrenergic receptors are also involved in catecholamine signaling by extracellular regulated protein kinase 1 and 2 (ERK1/2) pathways. A clear association between the alpha-2-adrenergic receptor and disease has not been yet established. [provided by RefSeq, Sep 2019]., [RefSeq]; Beta2 adrenergic receptor-mediated abnormal myelopoiesis drives neuroinflammation in aged patients with traumatic brain injury., [RefSeq, PubMed]; The alpha-2A-adrenergic receptor gene polymorphism modulates gray matter structural networks, visual memory, and inhibitory cognitive control in children with attention deficit/hyperactivity disorder., [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": 9, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B0LPF6;Q2I8G2;Q2XN99;Q86TH8;Q9BZK1", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042803 protein homodimerization activity;GO:0032795 heterotrimeric G-protein binding;GO:0004938 alpha2-adrenergic receptor activity;GO:0031692 alpha-1B adrenergic receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0097305 response to alcohol;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "P08913-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DKL9-1", "uniprot_id": "A14EL_HUMAN", "mass": 17712.0, "length": 152, "protein_name": "ARL14 effector protein-like", "gene_name": "ARL14EPL", "organism": "Human", "refseq_name": "ARL14 effector protein-like isoform 1", "refseq_ac": "NP_001182510", "gene_names_uniprotkb": "ARL14EPL", "gene_names_refseq": "ARL14EPL", "protein_names_uniprotkb": "ARL14 effector protein-like", "protein_names_refseq": "ADP ribosylation factor like GTPase 14 effector protein like; ADP-ribosylation factor-like 14 effector protein-like; ARL14 effector protein-like isoform 1; ARL14 effector protein-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:644100)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "30779550;33981976", "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": "P0DKL9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P14621-1", "uniprot_id": "ACYP2_HUMAN", "mass": 11140.0, "length": 99, "protein_name": "Acylphosphatase-2", "gene_name": "ACYP2", "organism": "Human", "refseq_name": "acylphosphatase-2 isoform 3", "refseq_ac": "NP_612457", "gene_names_uniprotkb": "ACYP2; ACYP", "gene_names_refseq": "ACYM; ACYP2; ACYP", "protein_names_uniprotkb": "Acylphosphatase-2; 3.6.1.7; Acylphosphatase, muscle type isozyme; Acylphosphate phosphohydrolase 2", "protein_names_refseq": "acylphosphatase 2, muscle type; acylphosphatase, muscle type isozyme; acylphosphatase-2 isoform 3; acylphosphate phosphohydrolase 2; testicular tissue protein Li 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:98)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1101/2023.09.13.557529;11237011;29557506;30484775;31848261;32157095;32937184;33921254;36215666;38615271;38985530;6100723;7796909;8268218", "class_list": "", "function": "Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]; Study of the effect of ACYP2 single nucleotide polymorphisms rs843711 and rs843706 in Egyptian patients with hepatocellular carcinoma., [RefSeq, PubMed]; Telomere Length and Male Fertility. Publication Status: Online-Only, [RefSeq, PubMed]; The influence of TERC, TERT and ACYP2 genes polymorphisms on plasma telomerase concentration, telomeres length and T2DM., [RefSeq, PubMed]; Transcription factor 7 like 2 gene polymorphism and advanced glycation end products as risk factors for diabetic nephropathy., [RefSeq, PubMed]; catalyzes the hydrolysis of acylphosphates compounds containing a carboxylphosphate bond., [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": 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": 3, "reported_interactions": 0, "missing_score": 9696, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.6.1.7", "go_molecular_function": "GO:0042802 identical protein binding;GO:0003998 acylphosphatase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0006796 phosphate-containing compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "P14621-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P17174-1", "uniprot_id": "AATC_HUMAN", "mass": 46248.0, "length": 413, "protein_name": "Aspartate aminotransferase, cytoplasmic", "gene_name": "GOT1", "organism": "Human", "refseq_name": "aspartate aminotransferase, cytoplasmic", "refseq_ac": "NP_002070", "gene_names_uniprotkb": "GOT1", "gene_names_refseq": "AST1; ASTQTL1; AST; GIG18; GOT1; SGOT; cAspAT; cCAT", "protein_names_uniprotkb": "Aspartate aminotransferase, cytoplasmic; 2.6.1.1; 2.6.1.3; Cysteine aminotransferase, cytoplasmic; Cysteine transaminase, cytoplasmic; Glutamate oxaloacetate transaminase 1; Transaminase A; cAspAT; cCAT", "protein_names_refseq": "aspartate aminotransferase 1; aspartate aminotransferase, cytoplasmic; aspartate transaminase 1; cysteine aminotransferase, cytoplasmic; cysteine transaminase, cytoplasmic; glutamate oxaloacetate transaminase 1; glutamic-oxaloacetic transaminase 1, soluble; growth-inhibiting protein 18; testis secretory sperm-binding protein Li 196a; transaminase A", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); transient cerebral ischemia (Disease Ontology:DOID:224); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); amyloidosis (Disease Ontology:DOID:9120)", "pathway": " (hsa:2805); (R-HSA-1237112); (R-HSA-8963693); (R-HSA-9856872)", "pathway_count": 4, "publication_count": 101, "publication_id_list": "10085079;10369257;10642534;11443076;11566871;12602510;14716746;15565635;15843022;16039064;16467855;16669630;16920706;17027983;17194761;17786183;18083107;19620624;19641205;19678840;1974457;19807691;20166139;20376881;21900944;22223895;22304711;2241899;22464254;22633534;22718265;23038267;23481700;24155240;24366607;24657844;25576301;25637873;2564390;26811146;26992070;27045997;2775751;27827456;27846572;28904123;29242379;29317506;29372909;29431636;29437277;29557506;30315122;30410026;3052244;30626607;3091600;31217245;31530632;31538237;31844290;32157095;32161166;32265295;32286245;32293098;32350084;32357974;32387766;32492406;32503382;32530509;32938616;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34357683;34381026;34433824;34509645;34725712;35051231;35154160;35251023;36010968;36215666;36497150;37752709;38665916;4052435;4687397;6785752;8597574", "class_list": "", "function": "Biosynthesis of L-glutamate from L-aspartate or L-cysteine (PubMed:21900944). Important regulator of levels of glutamate, the major excitatory neurotransmitter of the vertebrate central nervous system. Acts as a scavenger of glutamate in brain neuroprotection. The aspartate aminotransferase activity is involved in hepatic glucose synthesis during development and in adipocyte glyceroneogenesis. Using L-cysteine as substrate, regulates levels of mercaptopyruvate, an important source of hydrogen sulfide. Mercaptopyruvate is converted into H(2)S via the action of 3-mercaptopyruvate sulfurtransferase (3MST). Hydrogen sulfide is an important synaptic modulator and neuroprotectant in the brain. In addition, catalyzes (2S)-2-aminobutanoate, a by-product in the cysteine biosynthesis pathway (PubMed:27827456)., [UniProtKB, PubMed, PubMed, PubMed]; GOT1 inhibition promotes pancreatic cancer cell death by ferroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008]., [RefSeq]; Sex Differences in the Association Between AST/ALT and Incidence of Type 2 Diabetes in Japanese Patients with Nonalcoholic Fatty Liver Disease: A Retrospective Cohort Study., [RefSeq, PubMed]; Tumor Cell Derived Exosomal GOT1 Suppresses Tumor Cell Ferroptosis to Accelerate Pancreatic Cancer Progression by Activating Nrf2/HO-1 Axis via Upregulating CCR2 Expression. 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": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring; risk", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R6R7;B7Z7E9;Q5VW80", "ec_number_list": "2.6.1.7;2.6.1.1;2.6.1.3", "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0004069 L-aspartate:2-oxoglutarate aminotransferase activity;GO:0004609 phosphatidylserine decarboxylase activity;GO:0031406 carboxylic acid binding;GO:0047801 L-cysteine transaminase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0043679 axon terminus;GO:0070062 extracellular exosome", "go_biological_process": "GO:1990267 response to transition metal nanoparticle;GO:0006103 2-oxoglutarate metabolic process;GO:0006533 L-aspartate catabolic process;GO:0006536 glutamate metabolic process;GO:0032869 cellular response to insulin stimulus", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "P17174-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P25791-1", "uniprot_id": "RBTN2_HUMAN", "mass": 18358.0, "length": 158, "protein_name": "Rhombotin-2", "gene_name": "LMO2", "organism": "Human", "refseq_name": "rhombotin-2 isoform 2", "refseq_ac": "NP_001135787", "gene_names_uniprotkb": "LMO2; RBTN2; RBTNL1; RHOM2; TTG2", "gene_names_refseq": "LMO-2; LMO2; RBTN2; RBTNL1; RHOM2; TTG2", "protein_names_uniprotkb": "Rhombotin-2; Cysteine-rich protein TTG-2; LIM domain only protein 2; LMO-2; T-cell translocation protein 2", "protein_names_refseq": "LIM domain only protein 2; T-cell translocation gene 2; T-cell translocation protein 2; cysteine-rich protein TTG-2; rhombotin-2 isoform 2; rhombotin-2; rhombotin-like 1", "tax_id": 9606, "disease": "acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:4005); (R-HSA-8939236)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11847229;15678106;16314316;18280240;18701449;1923511;20887958;21571218;22012064;22897851;25043025;25394790;26992070;27137657;28832583;29557506;30833945;32897882;34171305;35051231;35580925;35999096;36905268;37519110;37573405;38245345;9129143", "class_list": "", "function": "Acts with TAL1/SCL to regulate red blood cell development. Also acts with LDB1 to maintain erythroid precursors in an immature state., [UniProtKB]; LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Nov 2008]., [RefSeq]; LMO2 promotes the development of AML through interaction with transcription co-regulator LDB1. Publication Status: Online-Only, [RefSeq, PubMed]; PAK5 is a potential target in myelodysplastic syndrome through interacting with LMO2 and GATA1. Publication Status: Online-Only, [RefSeq, PubMed]; Potential link of single nucleotide polymorphisms within LMO2 to the risk of cervical squamous-cell carcinoma in Chinese populations., [RefSeq, PubMed]; Simulated microgravity altered the gene expression profiles and inhibited the proliferation of Kupffer cells in the early phase by downregulating LMO2 and EZH2., [RefSeq, PubMed]; Value of GCET1, HGAL (GCET2), and LMO2 in the Determination of Germinal Center Phenotype in Diffuse Large B-cell Lymphoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q9HD58", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0043425 bHLH transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0035162 embryonic hemopoiesis;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P25791-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30926-1", "uniprot_id": "ACHB4_HUMAN", "mass": 56380.0, "length": 498, "protein_name": "Neuronal acetylcholine receptor subunit beta-4", "gene_name": "CHRNB4", "organism": "Human", "refseq_name": "neuronal acetylcholine receptor subunit beta-4 isoform 1 precursor", "refseq_ac": "NP_000741", "gene_names_uniprotkb": "CHRNB4", "gene_names_refseq": "CHRNB4", "protein_names_uniprotkb": "Neuronal acetylcholine receptor subunit beta-4", "protein_names_refseq": "acetylcholine receptor, nicotinic, beta 4 (neuronal); cholinergic receptor, nicotinic, beta 4 (neuronal); cholinergic receptor, nicotinic, beta polypeptide 4; neuronal acetylcholine receptor subunit beta-4 isoform 1 precursor; neuronal acetylcholine receptor subunit beta-4; neuronal nicotinic receptor beta 4 subunit", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); lung cancer (Disease Ontology:DOID:1324); depressive disorder (Disease Ontology:DOID:1596); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); lung small cell carcinoma (Disease Ontology:DOID:5409); cocaine abuse (Disease Ontology:DOID:809); oral cavity cancer (Disease Ontology:DOID:8618)", "pathway": " (hsa:1143); (R-HSA-629587); (R-HSA-629594); (R-HSA-629597); (R-HSA-6798695)", "pathway_count": 5, "publication_count": 28, "publication_id_list": "10945867;11118490;11237011;11450844;11742001;12810063;1330682;15609996;16120769;19059502;20881005;23650620;26992070;27344019;28218747;28228285;29437277;30315122;30833945;31488329;33578531;34171305;8663494;8692836;8906617;8987816;9009220;9203638", "class_list": "", "function": "Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (PubMed:20881005, PubMed:31488329, PubMed:8663494, PubMed:8906617, PubMed:9203638). CHRNB4 forms heteropentameric neuronal acetylcholine receptors with CHRNA2, CHRNA3 and CHRNA4, as well as CHRNA5 and CHRNB3 as accesory subunits (PubMed:11118490, PubMed:20881005, PubMed:8663494). CHRNA3:CHRNB4 being predominant in neurons of the autonomic ganglia, it is known as ganglionic nicotinic receptor (PubMed:31488329). CHRNA3:CHRNB4 or CHRNA3:CHRNA5:CHRNB4 play also an important role in the habenulo-interpeduncular tract, modulating the mesolimbic dopamine system and affecting reward circuits and addiction (By similarity). Hypothalamic CHRNA3:CHRNB4 nAChR activation by nicotine leads to activation of POMC neurons and a decrease in food intake (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; The relationship between CHRNA5/A3/B4 gene cluster polymorphisms and lung cancer risk: An updated meta-analysis and systematic review., [RefSeq, PubMed]; This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A4FTX5;E9PHE8;Q16607;Q4VBA5;Q8WXC8;Q9BQR4", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0015276 ligand-gated monoatomic ion channel activity;GO:0015464 acetylcholine receptor activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:0005230 extracellular ligand-gated monoatomic ion channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0016020 membrane;GO:0030054 cell junction;GO:0035579 specific granule membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0007165 signal transduction;GO:0007271 synaptic transmission, cholinergic;GO:0060084 synaptic transmission involved in micturition;GO:0095500 acetylcholine receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "P30926-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P36639-4", "uniprot_id": "8ODP_HUMAN", "mass": 17952.0, "length": 156, "protein_name": "Oxidized purine nucleoside triphosphate hydrolase", "gene_name": "NUDT1", "organism": "Human", "refseq_name": "oxidized purine nucleoside triphosphate hydrolase isoform p18", "refseq_ac": "NP_002443", "gene_names_uniprotkb": "NUDT1; MTH1", "gene_names_refseq": "MTH1; NUDT1", "protein_names_uniprotkb": "Oxidized purine nucleoside triphosphate hydrolase; 2-hydroxy-dATP diphosphatase; 3.6.1.-; 3.6.1.56; 7,8-dihydro-8-oxoguanine triphosphatase; 8-oxo-dGTPase; Methylated purine nucleoside triphosphate hydrolase; Nucleoside diphosphate-linked moiety X motif 1; Nudix motif 1", "protein_names_refseq": "2-hydroxy-dATP diphosphatase; 7,8-dihydro-8-oxoguanine triphosphatase; 8-oxo-7,8-dihydrodeoxyguanosine triphosphatase; 8-oxo-7,8-dihydroguanosine triphosphatase; 8-oxo-dGTPase; methylated purine nucleoside triphosphate hydrolase; mutT human homolog 1; nucleoside diphosphate-linked moiety X motif 1; nucleoside diphosphate-linked moiety X-type motif 1; nudix (nucleoside diphosphate linked moiety X)-type motif 1; nudix motif 1; oxidized purine nucleoside triphosphate hydrolase isoform p18; oxidized purine nucleoside triphosphate hydrolase", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:4521)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10373420;10536140;10608900;11139615;11756418;12857738;15133035;15516784;16607562;16774934;17142918;20112406;21787772;22556419;23301498;24695224;24695225;26238318;26999531;28035004;28218747;28679043;28832583;29393594;30304478;30379171;31530632;32144205;35809767;36130054;36914375;37848855;39075342;7713500;7782328;8226881;9211940", "class_list": "", "function": "Fusobacterium nucleatum facilitates proliferation and autophagy by activating miR-361-3p/NUDT1 axis through oxidative stress in hypopharyngeal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; MTH1 suppression enhances the stemness of MCF7 through upregulation of STAT3., [RefSeq, PubMed]; MiR-4478 Accelerates Nucleus Pulposus Cells Apoptosis Induced by Oxidative Stress by Targeting MTH1., [RefSeq, PubMed]; Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A rare single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Dec 2018]., [RefSeq]; Oxidized purine nucleoside triphosphate hydrolase which is a prominent sanitizer of the oxidized nucleotide pool (PubMed:10608900, PubMed:12857738, PubMed:22556419, PubMed:24695224, PubMed:24695225, PubMed:26238318, PubMed:28679043, PubMed:7713500, PubMed:8226881). Catalyzes the hydrolysis of 2-oxo-dATP (2-hydroxy-dATP) into 2-oxo-dAMP (PubMed:10373420). Also has a significant hydrolase activity toward 2-oxo-ATP, 8-oxo-dGTP and 8-oxo-dATP (PubMed:10373420, PubMed:11139615). Through the hydrolysis of oxidized purine nucleoside triphosphates, prevents their incorporation into DNA and the subsequent transversions A:T to C:G and G:C to T:A (PubMed:10373420, PubMed:10608900, PubMed:11756418, PubMed:12857738, PubMed:16607562, PubMed:24695224, PubMed:24695225, PubMed:26999531, PubMed:28035004, PubMed:8226881). Also catalyzes the hydrolysis of methylated purine nucleoside triphosphate preventing their integration into DNA (PubMed:30304478, PubMed:32144205). Through this antimutagenic activity protects cells from oxidative stress (PubMed:10608900, PubMed:12857738, PubMed:24695224, PubMed:24695225, PubMed:30304478, PubMed:32144205, PubMed:7713500, PubMed:8226881)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Protonation states of Asp residues in the human Nudix hydrolase MTH1 contribute to its broad substrate recognition., [RefSeq, PubMed]; USP9X regulates the proliferation, survival, migration and invasion of gastric cancer cells by stabilizing MTH1. 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": 33, "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": "A4D205;Q6LES7;Q6P0Y6;Q7Z7N6;Q8IV95;Q9UBM0;Q9UBM9", "ec_number_list": "3.6.1.-;3.6.1.56", "go_molecular_function": "GO:0046872 metal ion binding;GO:0008413 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity;GO:0030515 snoRNA binding;GO:0035539 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity;GO:0047693 ATP diphosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006281 DNA repair;GO:0006979 response to oxidative stress;GO:0042262 DNA protection;GO:0006152 purine nucleoside catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P36639-4", "record_type": "protein" }, { "uniprot_canonical_ac": "P45844-1", "uniprot_id": "ABCG1_HUMAN", "mass": 75592.0, "length": 678, "protein_name": "ATP-binding cassette sub-family G member 1", "gene_name": "ABCG1", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family G member 1 isoform 4", "refseq_ac": "NP_004906", "gene_names_uniprotkb": "ABCG1; ABC8; WHT1", "gene_names_refseq": "ABC8; ABCG1; WHITE1", "protein_names_uniprotkb": "ATP-binding cassette sub-family G member 1; 7.6.2.-; ATP-binding cassette transporter 8; White protein homolog", "protein_names_refseq": "ABC transporter 8; ATP-binding cassette sub-family G member 1 isoform 4; ATP-binding cassette sub-family G member 1; ATP-binding cassette transporter 8; ATP-binding cassette transporter member 1 of subfamily G; ATP-binding cassette, sub-family G (WHITE), member 1; homolog of Drosophila white; white protein homolog (ATP-binding cassette transporter 8)", "tax_id": 9606, "disease": "end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:9619); (R-HSA-1369062); (R-HSA-8964058); (R-HSA-9029569)", "pathway_count": 4, "publication_count": 142, "publication_id_list": "10551832;10639163;10704444;10777694;10799558;10858438;10873640;10950923;11095984;11099417;11149950;11162488;11178988;11237011;11248239;11279031;11309290;11350058;11478798;11500512;11590207;11604492;11606068;11718719;11875109;12032151;12032171;12150943;12150964;12183068;12454263;12504089;12509503;12612088;12821155;12917409;14559902;14570867;14592415;14703507;14764426;15007061;15044640;15147902;15209530;15994327;16007253;16326978;16702602;16968945;17186944;17237796;17408620;18782758;19481530;19567873;20466882;20466885;20494359;20566875;20855588;21187453;21310851;21507939;22042635;22541735;22673513;23388354;23496987;23519696;23790976;24366607;24576892;24715725;24831815;25418920;26154972;26811146;26984517;26992070;27228027;27846572;27862975;27920218;28082258;2833496;28411811;28834231;28842423;28869506;28904123;29393594;29493099;29508533;29557506;29632046;29632711;29772548;29786170;30315122;30429286;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32357974;32502341;32938616;32983136;33298915;33392160;33912179;33968037;34171305;34357683;34932366;35051231;35580925;36065016;36284347;37074911;37507725;37770056;37875209;37938771;38253038;38275217;4335615;4340992;4360812;5865378;6619141;8411712;8507690;8659545;8706931;9034316;9345306;9829992", "class_list": "", "function": "A new perspective on the current and future development potential of ABCG1. Review article, [RefSeq, PubMed]; Catalyzes the efflux of phospholipids such as sphingomyelin, cholesterol and its oxygenated derivatives like 7beta-hydroxycholesterol and this transport is coupled to hydrolysis of ATP (PubMed:17408620, PubMed:24576892). The lipid efflux is ALB-dependent (PubMed:16702602). Is an active component of the macrophage lipid export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid homeostasis may not be limited to macrophages. Prevents cell death by transporting cytotoxic 7beta-hydroxycholesterol (PubMed:17408620)., [UniProtKB, PubMed, PubMed, PubMed]; DNA Methylation at ABCG1 and Long-term Changes in Adiposity and Fat Distribution in Response to Dietary Interventions: The POUNDS Lost Trial., [RefSeq, PubMed]; Hypomethylation of ABCG1 in peripheral blood as a potential marker for the detection of coronary heart disease. Publication Status: Online-Only, [RefSeq, PubMed]; Multi-omics analysis identifies rare variation in leptin/PPAR gene sets and hypermethylation of ABCG1 contribute to antipsychotics-induced metabolic syndromes., [RefSeq, PubMed]; The 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 White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of ATP-binding cassette transporter G1 (ABCG1) in Alzheimer's disease: A review of the mechanisms. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 17, "reported_glycation": 0, "reported_snv": 24, "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": "Q86SU8;Q96L76;Q9BXK6;Q9BXK7;Q9BXK8;Q9BXK9;Q9BXL0;Q9BXL1;Q9BXL2;Q9BXL3;Q9BXL4", "ec_number_list": "1.14.11.-;1.14.11.65;1.14.99.66;1.14.11.69;1.14.11.66;7.6.2.-;7.6.2.1;7.6.2.2", "go_molecular_function": "GO:0005524 ATP binding;GO:0005543 phospholipid binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005739 mitochondrion;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0008203 cholesterol metabolic process;GO:0010875 positive regulation of cholesterol efflux;GO:0033700 phospholipid efflux;GO:0055085 transmembrane transport;GO:0090181 regulation of cholesterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "P45844-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P45954-1", "uniprot_id": "ACDSB_HUMAN", "mass": 47485.0, "length": 432, "protein_name": "Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial", "gene_name": "ACADSB", "organism": "Human", "refseq_name": "short/branched chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2", "refseq_ac": "NP_001317103", "gene_names_uniprotkb": "ACADSB", "gene_names_refseq": "2-MEBCAD; ACAD7; ACADSB; SBCAD", "protein_names_uniprotkb": "Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial; 1.3.8.1; 1.3.8.5; 2-MEBCAD; 2-methyl branched chain acyl-CoA dehydrogenase; 2-methylbutyryl-CoA dehydrogenase; 2-methylbutyryl-coenzyme A dehydrogenase; SBCAD", "protein_names_refseq": "2-methyl branched chain acyl-CoA dehydrogenase; 2-methylbutyryl-coenzyme A dehydrogenase; acyl-Coenzyme A dehydrogenase, short/branched chain; short/branched chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2; short/branched chain specific acyl-CoA dehydrogenase, mitochondrial", "tax_id": 9606, "disease": "2-methylbutyryl-CoA dehydrogenase deficiency (MONDO:MONDO:0012392)", "pathway": " (hsa:36); (R-HSA-70895); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 95, "publication_id_list": "10832746;10947204;11013134;11181649;11264579;11406611;11738050;11923310;12198491;12269802;12359132;12434311;12696021;12855692;13416257;14623864;14752098;15166214;1527093;15342248;15522782;15576032;15870080;16023992;16115876;16141215;16317551;17101804;17297443;17371050;17564966;17579211;19608861;19841671;21237683;21430231;22262461;22291014;22710082;22956686;23201127;23485643;23931759;24275569;24315374;24449431;24520911;25892735;26251176;26375851;26504172;26923599;27496948;27600516;27642048;28377575;28396416;28904123;29301859;29557506;29769354;29932645;30120231;30192525;30730842;3082934;31217245;31327635;31435015;31695197;31844290;31848261;32157095;32776663;32938616;32983136;33257573;33912179;33981976;34704252;34943861;35051231;35870450;3597357;36629048;37527640;6928646;7356336;7623837;7698750;8660691;8824301;9165094;9214289;9889013", "class_list": "", "function": "ACADSB mutation is associated with short/branched-chain acyl-CoA dehydrogenase deficiency. Review article, [RefSeq, PubMed]; ACADSB regulates ferroptosis and affects the migration, invasion, and proliferation of colorectal cancer cells., [RefSeq, PubMed]; Differences between the rat and human enzyme at positions 383, 222, and 220 alter substrate specificity without affecting substrate binding., [RefSeq, PubMed]; Lipid Metabolism Pathway Genes and Lung Cancer: ACADSB rs12220683G>C Is Associated with Better Survival Outcome in Patients with Non-Small Cell Lung Cancer., [RefSeq, PubMed]; Short and branched chain specific acyl-CoA dehydrogenase that catalyzes the proR-proR stereospecific alpha,beta-dehydrogenation of fatty acyl-CoA thioesters using the electron transfer flavoprotein (ETF) as their physiologic electron acceptor, resulting in the formation of trans-2-enoyl-CoA ((2E)-enoyl-CoA) (PubMed:10832746, PubMed:11013134, PubMed:21430231, PubMed:7698750). Among the different mitochondrial acyl-CoA dehydrogenases, acts specifically on short and branched chain acyl-CoA derivatives such as (S)-2-methylbutyryl-CoA as well as short straight chain acyl-CoAs such as butyryl-CoA (butanoyl-CoA) (PubMed:10832746, PubMed:11013134, PubMed:21430231, PubMed:7698750). Plays an important role in the metabolism of L-isoleucine by catalyzing the dehydrogenation of 2-methylbutyryl-CoA, one of the steps of the L-isoleucine catabolic pathway (PubMed:10832746, PubMed:11013134). Can also act on valproyl-CoA, a metabolite of valproic acid, an antiepileptic drug (PubMed:8660691)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [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": 4, "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": "B4DQ51;Q5SQN6;Q96CX7", "ec_number_list": "2.3.3.1;1.4.1.3;1.2.1.3;6.4.1.3;7.1.2.2;4.2.1.2;5.6.1.7;1.2.4.1;2.3.1.168;2.3.1.-;1.3.8.7;1.3.8.1;4.98.1.1;1.1.1.38;2.3.1.9;1.3.8.4;1.3.8.8;7.1.1.2;1.2.1.36;1.7.1.-;1.2.1.28;3.4.21.53;3.6.4.10;1.1.1.37;5.3.3.8;1.3.8.5;3.1.2.2;2.3.3.10;2.8.3.5;3.5.3.1;1.2.4.2;5.3.3.21;2.7.11.2;2.7.11.-;1.1.1.35;2.7.1.23;5.6.2.3;1.1.1.62;1.1.1.239;1.1.1.178;1.1.1.53;1.1.1.159;4.2.1.3;6.1.1.5;2.3.1.41", "go_molecular_function": "GO:0003995 acyl-CoA dehydrogenase activity;GO:0042802 identical protein binding;GO:0050660 flavin adenine dinucleotide binding;GO:0016937 short-chain fatty acyl-CoA dehydrogenase activity;GO:0003853 short-chain 2-methyl fatty acyl-CoA dehydrogenase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0006550 L-isoleucine catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P45954-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P53396-1", "uniprot_id": "ACLY_HUMAN", "mass": 120839.0, "length": 1101, "protein_name": "ATP-citrate synthase", "gene_name": "ACLY", "organism": "Human", "refseq_name": "ATP-citrate synthase isoform 1", "refseq_ac": "NP_001087", "gene_names_uniprotkb": "ACLY", "gene_names_refseq": "ACLY; ACL; ATPCL; CLATP", "protein_names_uniprotkb": "ATP-citrate synthase; 2.3.3.8; ACL; ATP-citrate (pro-S-)-lyase; Citrate cleavage enzyme", "protein_names_refseq": "ATP-citrate (pro-S-)-lyase; ATP-citrate synthase isoform 1; ATP-citrate synthase; citrate cleavage enzyme", "tax_id": 9606, "disease": "", "pathway": " (hsa:47); (R-HSA-163765); (R-HSA-6798695); (R-HSA-75105)", "pathway_count": 4, "publication_count": 194, "publication_id_list": "10229681;10653665;11237011;12689621;13651131;1371749;14742444;15592455;15610069;15664996;15668256;15907797;16139798;16408927;16644726;16854592;16885160;17016520;17081983;17148476;17898086;17924679;17978863;18088087;18452278;18455495;18669648;18691976;18767875;19286649;19369195;19413330;19415658;19571038;19608861;19664994;19664995;19690332;20058876;20068231;20470824;20558738;21406692;21787891;22102020;22465940;23186163;23301498;23481700;23650620;23700546;23932781;24275569;24286864;24366607;24397554;24714562;24715725;25203508;25418920;25576301;25643809;25645385;25802875;25810538;25880248;25892735;26154972;26375851;26728094;26758079;26811146;26853435;26929215;26992070;27015560;27067055;27397612;27600516;27664236;27846572;27862975;27892461;27920218;28218747;28228285;28446606;28514659;28649982;28689661;28832583;28834231;28904123;29242379;29314611;29317506;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29779826;29786170;29789417;30315122;30397120;30410026;30429286;30524438;31020640;31217245;31844290;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33392160;33465208;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;33991616;34019948;34087483;34093574;34171305;34185709;34211107;34357683;34405274;34491895;34509645;34561969;34725712;34932366;35008409;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36269753;36284347;36581221;37938771;3805044;38176897;38494608;38665916;38670440;39399493;39524354;39881208;40132583;40307207;40596516;40914422;5810867;627544;7567999;7732023;7901201;7909540;7916016;8692836;9116495;9341199", "class_list": "", "function": "ATP citrate lyase (ACLY)-dependent immunometabolism in mucosal T cells drives experimental colitis in vivo. Publication Status: Online-Only, [RefSeq, PubMed]; ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]., [RefSeq]; CILP2 promotes hypertrophic scar through Snail acetylation by interaction with ACLY., [RefSeq, PubMed]; Catalyzes the cleavage of citrate into oxaloacetate and acetyl-CoA, the latter serving as common substrate in multiple biochemical reactions in protein, carbohydrate and lipid metabolism., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Enhanced lipid biosynthesis in oral squamous cell carcinoma cancer-associated fibroblasts contributes to tumor progression: Role of IL8/AKT/p-ACLY axis., [RefSeq, PubMed]; The pathological significance and potential mechanism of ACLY in cholangiocarcinoma. 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": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B4DIM0;B4E3P0;Q13037;Q9BRL0", "ec_number_list": "3.4.19.12;3.6.4.13;4.6.1.19;3.2.1.24;1.1.1.42;1.6.2.2;2.4.2.1;3.4.21.46;1.16.3.1;1.11.1.6;3.2.1.51;4.1.2.13;3.5.3.1;1.11.2.2;3.2.1.-;3.2.1.22;2.4.1.1;5.3.1.9;5.1.3.-;3.4.23.5;3.4.22.52;3.4.21.4;3.2.1.52;3.4.22.1;3.6.4.10;3.2.1.31;3.4.21.37;3.4.21.20;2.5.1.18;1.13.11.-;1.13.11.34;3.3.2.6;3.4.11.4;4.6.1.18;3.4.16.5;3.4.16.-;1.1.1.205;3.1.27.-;4.2.99.18;5.6.2.4;3.6.5.-;4.2.1.24;3.4.19.1;5.3.2.1;5.3.3.12;2.7.10.2;2.7.11.1;2.7.1.40;3.4.24.35;3.1.6.8;3.1.6.14;3.1.6.12;3.2.1.23;2.7.1.11;5.4.2.11;5.4.2.4;3.5.1.26;2.7.4.6;2.7.13.3;3.4.21.76;3.4.22.27;2.7.11.24;1.11.1.27;3.1.1.4;2.3.1.23;3.5.4.5;3.1.6.4;5.4.2.2;2.4.1.186;3.6.1.-;2.7.1.1;2.7.1.-;2.3.3.8;3.4.14.1;3.6.4.6;3.2.1.17;5.2.1.8;3.1.1.47;3.1.1.-;3.5.4.6;2.7.11.13;1.11.1.24;3.5.1.23;3.5.1.-;3.5.1.109;2.7.11.22;2.7.11.23;2.3.2.5;6.3.4.21;2.3.2.26;1.8.4.-;5.3.4.1;3.6.1.6;3.4.19.9;5.4.2.7;3.4.25.1;1.6.5.5;3.1.3.16;5.3.99.3;3.5.4.4;2.3.2.27;3.4.18.1;3.4.14.2;3.5.3.15;4.1.2.4", "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0003878 ATP citrate synthase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:1904813 ficolin-1-rich granule lumen", "go_biological_process": "GO:0006101 citrate metabolic process;GO:0008610 lipid biosynthetic process;GO:0006633 fatty acid biosynthetic process;GO:0006085 acetyl-CoA biosynthetic process;GO:0006107 oxaloacetate metabolic process", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "P53396-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78363-1", "uniprot_id": "ABCA4_HUMAN", "mass": 255944.0, "length": 2273, "protein_name": "Retinal-specific phospholipid-transporting ATPase ABCA4", "gene_name": "ABCA4", "organism": "Human", "refseq_name": "retinal-specific phospholipid-transporting ATPase ABCA4 isoform 1", "refseq_ac": "NP_000341", "gene_names_uniprotkb": "ABCA4; ABCR", "gene_names_refseq": "ABC10; ABCA4; ABCR; ARMD2; CORD3; FFM; RMP; RP19; STGD1; STGD", "protein_names_uniprotkb": "Retinal-specific phospholipid-transporting ATPase ABCA4; 7.6.2.1; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; Retinal-specific ATP-binding cassette transporter; RmP; Stargardt disease protein", "protein_names_refseq": "ATP binding cassette transporter; ATP-binding cassette sub-family A member 4; ATP-binding cassette transporter, retinal-specific; ATP-binding cassette, sub-family A (ABC1), member 4; ATP-binding transporter, retina-specific; RIM ABC transporter; RIM proteinv; RIM protein; photoreceptor rim protein; retina-specific ABC transporter; retinal-specific ATP-binding cassette transporter; retinal-specific phospholipid-transporting ATPase ABCA4 isoform 1; retinal-specific phospholipid-transporting ATPase ABCA4; stargardt disease protein", "tax_id": 9606, "disease": "Stargardt disease (Disease Ontology:DOID:0050817); retinitis pigmentosa 91 (Disease Ontology:DOID:0061106); Stargardt disease 1 (Disease Ontology:DOID:0061241); age related macular degeneration 2 (Disease Ontology:DOID:0110015); retinitis pigmentosa 19 (Disease Ontology:DOID:0110354); cone-rod dystrophy 3 (Disease Ontology:DOID:0111013); retinitis pigmentosa (Disease Ontology:DOID:10584); macular degeneration (Disease Ontology:DOID:4448); retinal degeneration (Disease Ontology:DOID:8466); fundus dystrophy (Disease Ontology:DOID:8501)", "pathway": " (hsa:24); (R-HSA-2453902); (R-HSA-382556); (R-HSA-9918454)", "pathway_count": 4, "publication_count": 172, "publication_id_list": "10075733;10090887;10206579;10484077;10612508;10617778;10634594;10665657;10711710;10746567;10748049;10753906;10880298;10958761;10958763;11017087;11123914;11237011;11274389;11320094;11328725;11346402;11379881;11384574;11385708;11504826;11527935;11562789;11594993;11812794;12036956;12111378;12177057;12379217;12379510;12403779;12407145;12604685;12962493;1352877;1356264;1359686;1377674;14661924;15175422;15192030;15314061;15471866;15472518;15863492;15865448;15899824;16816140;16901789;16959974;17255476;17286855;17523162;17855752;17894550;17977821;18282684;18334942;18434309;18977788;19002207;19028736;19049981;1925597;19265867;19304658;19309693;19447222;19553623;19570978;1968359;19862647;1998343;20192770;20335603;20404325;20583968;20621639;21493626;21721517;21774515;22178883;22665496;22735453;2303470;23063411;23143460;23144455;23419329;23755871;24019521;24097981;24444108;24457364;24685677;24715725;2475911;25133187;25346251;2542268;2570070;26208431;26780318;27862975;28132103;28228285;28832583;2898143;29242379;29331515;29557506;29786170;29789417;29847635;30120214;31481235;31530632;3170584;31844290;32157095;32981041;32983136;33375396;33605212;33912179;33981976;34087483;3457471;34625547;3472246;35051231;35154160;35289036;35494241;36010968;38892127;39128720;39162841;39222682;5315589;6288450;6342691;6512705;6589631;6679757;7523390;7529176;7553863;7553864;7865904;7929238;8105993;8884265;9054934;9202155;9295268;9466990;9490294;9503029;9541407;9652413;9703434;9781034;9816258;9831708;9920938;9973280", "class_list": "", "function": "Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (N-Ret-PE) from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk membranes, where 11-cis-retinylidene-phosphatidylethanolamine is then isomerized to its all-trans isomer and reduced by RDH8 to produce all-trans-retinol. This transport activity ensures that all-trans-retinal generated from photoexcitation and 11-cis-retinal not needed for the regeneration of rhodopsin and cone opsins are effectively cleared from the photoreceptors, therefore preventing their accumulation and the formation of toxic bisretinoid (PubMed:10075733, PubMed:20404325, PubMed:22735453, PubMed:23144455, PubMed:24097981, PubMed:29847635, PubMed:33375396). Displays ATPase activity in vitro in absence of retinal substrate (PubMed:33605212, PubMed:39128720, PubMed:29847635, PubMed:33375396). May display GTPase activity that is strongly influenced by the lipid environment and the presence of retinoid compounds (PubMed:22735453). Binds the unprotonated form of N-retinylidene-phosphatidylethanolamine with high affinity in the absence of ATP, and ATP binding and hydrolysis induce a protein conformational change that causes N-retinylidene-phosphatidylethanolamine release (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants. Publication Status: Online-Only, [RefSeq, PubMed]; Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Structural and functional characterization of the nucleotide-binding domains of ABCA4 and their role in Stargardt disease., [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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, and the gene product mediates transport of an essental molecule, all-trans-retinal aldehyde (atRAL), across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Sep 2019]., [RefSeq]; Virus-like particles as robust tools for functional assessment: Deciphering the pathogenicity of ABCA4 genetic variants of uncertain significance., [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": 9, "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": 9, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 5, "reported_mutagensis": 31, "reported_glycation": 0, "reported_snv": 81, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 10, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "O15112;O60438;O60915;Q0QD48;Q4LE31", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0016887 ATP hydrolysis activity;GO:0005503 all-trans retinal binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031410 cytoplasmic vesicle;GO:0097381 photoreceptor disc membrane", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0006869 lipid transport;GO:0055085 transmembrane transport;GO:0007601 visual perception;GO:0007603 phototransduction, visible light", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "P78363-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q08AH1-1", "uniprot_id": "ACSM1_HUMAN", "mass": 65273.0, "length": 577, "protein_name": "Acyl-coenzyme A synthetase ACSM1, mitochondrial", "gene_name": "ACSM1", "organism": "Human", "refseq_name": "acyl-coenzyme A synthetase ACSM1, mitochondrial", "refseq_ac": "NP_001305819", "gene_names_uniprotkb": "ACSM1; BUCS1; LAE; MACS1", "gene_names_refseq": "ACSM1; BUCS1; MACS1", "protein_names_uniprotkb": "Acyl-coenzyme A synthetase ACSM1, mitochondrial; 6.2.1.25; 6.2.1.2; Acyl-CoA synthetase medium-chain family member 1; Benzoate--CoA ligase; Butyrate--CoA ligase 1; Butyryl-coenzyme A synthetase 1; Lipoate-activating enzyme; Middle-chain acyl-CoA synthetase 1; Xenobiotic/medium-chain fatty acid-CoA ligase HXM-B", "protein_names_refseq": "Butyrate CoA ligase; acyl-coenzyme A synthetase ACSM1, mitochondrial; benzoate--CoA ligase; butyrate--CoA ligase 1; butyryl Coenzyme A synthetase 1; butyryl-coenzyme A synthetase 1; lipoate-activating enzyme; medium-chain acyl-CoA synthetase; middle-chain acyl-CoA synthetase 1; xenobiotic/medium-chain fatty acid-CoA ligase HXM-B", "tax_id": 9606, "disease": "", "pathway": " (hsa:116285); (R-HSA-177135); (R-HSA-177162)", "pathway_count": 3, "publication_count": 14, "publication_id_list": "10434065;11237011;11470804;12616642;15361761;19413330;24715725;25576301;25656805;27351777;30379171;35051231;7802672;931988", "class_list": "", "function": "Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (PubMed:10434065). Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate-containing xenobiotics, e.g. benzoate (PubMed:10434065). Also catalyzes the activation of lipoate to lipoyl-nucleoside monophosphate (By similarity). Activates lipoate with GTP at a 1000-fold higher rate than with ATP and activates both (R)- and (S)-lipoate to the respective lipoyl-GMP, with a preference for (R)-lipoate (By similarity)., [UniProtKB, UniProtKB, PubMed]; Single nucleotide polymorphisms(SNP) in exon 8 of A/G polymorphism of MACS1 gene and G/T SNP in intron 3 of SAH gene were associated with plasma levels of plasma HDL cholesterol. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; These data are the first to suggest a positive association of the ACSM1 gene with a genetic susceptibility for Schizophrenia and major depressive disorder in the Han 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": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q08AH2;Q96A20", "ec_number_list": "6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;6.2.1.2;6.2.1.25;6.2.1.17;6.2.1.1", "go_molecular_function": "GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0004467 long-chain fatty acid-CoA ligase activity;GO:0102391 decanoate-CoA ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0006637 acyl-CoA metabolic process;GO:0015980 energy derivation by oxidation of organic compounds;GO:0006633 fatty acid biosynthetic process;GO:0006805 xenobiotic metabolic process;GO:0018874 benzoate metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q08AH1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30153-1", "uniprot_id": "2AAA_HUMAN", "mass": 65309.0, "length": 589, "protein_name": "Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform", "gene_name": "PPP2R1A", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform isoform 1", "refseq_ac": "NP_055040", "gene_names_uniprotkb": "PPP2R1A", "gene_names_refseq": "HJS2; MRD36; PP2A-Aalpha; PP2AAALPHA; PP2AA; PPP2R1A; PR65A", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform; Medium tumor antigen-associated 61 kDa protein; PP2A subunit A isoform PR65-alpha; PP2A subunit A isoform R1-alpha; PP2Aa", "protein_names_refseq": "medium tumor antigen-associated 61 KDA protein; protein phosphatase 2, regulatory subunit A, alpha; serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform isoform 1; testicular secretory protein Li 1", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 36 (Disease Ontology:DOID:0070066)", "pathway": " (hsa:5518); (R-HSA-113501); (R-HSA-1295596); (R-HSA-141430); (R-HSA-141444); (R-HSA-163767); (R-HSA-180024); (R-HSA-195253); (R-HSA-196299); (R-HSA-198753); (R-HSA-202670); (R-HSA-2465910); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-2565942); (R-HSA-2995383); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-389356); (R-HSA-389513); (R-HSA-432142); (R-HSA-4641262); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5467337); (R-HSA-5467340); (R-HSA-5467348); (R-HSA-5620912); (R-HSA-5663220); (R-HSA-5673000); (R-HSA-5675221); (R-HSA-6804757); (R-HSA-6811558); (R-HSA-68877); (R-HSA-69231); (R-HSA-69273); (R-HSA-8854518); (R-HSA-9634600); (R-HSA-9648025); (R-HSA-975957); (R-HSA-9833482); (R-HSA-9860927)", "pathway_count": 47, "publication_count": 856, "publication_id_list": "10.1101/2023.09.13.557529;10023660;10082513;10092233;10095107;10196136;10205168;10206983;10207050;10348343;10385618;10393926;10395539;10400669;10411507;10415025;10421629;10428961;10481074;10487827;10490027;10499802;10581160;10600115;10600384;10604473;10608892;10620360;10626894;10648614;10652300;10678165;10684251;10694513;10698523;10700176;10702794;10712905;10722742;10749138;10754332;10757792;10799894;10827953;10831586;10848580;10862053;10866685;10887178;10891492;10921899;10958683;10980695;10980696;11003670;11032757;11032810;11053437;11063929;11073976;11076968;11081627;11096080;11134010;11152499;11156368;11157749;11181178;11231573;11237011;11238103;11238451;11238463;11238927;11278865;11279012;11313932;11313968;11325826;11331269;11336703;11337501;11350938;11359766;11371342;11375957;11416152;11438540;11494123;11500375;11504915;11509732;11522655;11532962;11535616;11544179;11546874;11551508;11698404;11707456;11719808;11738041;11741534;11746989;11756411;11781817;11804586;11861647;11884610;11897663;11907280;11909525;11923872;11939789;11955436;11956313;11976720;11983168;11985496;11994459;12000790;12006501;12065642;12067995;12101426;12194817;12207013;12221128;12231563;12244094;12364337;12391162;12397061;12411508;12417715;12429848;12435635;12439748;12444543;12474228;12551923;12554650;12554878;12577064;12583813;12593795;12593796;12670497;12679384;12718880;12721358;12732141;12754270;12775720;12805219;12815057;12820959;12832468;12852856;12852857;12876557;12882984;12932319;12932339;1325671;13678582;1373135;1384126;1423597;14507994;14517297;14527413;14527418;14530258;14580337;14585331;14597415;14636577;14724641;14730319;14731402;14742663;14766746;14973490;15006353;15024056;15031289;15034551;15035987;15053880;15073180;15084453;15085137;15142525;15229216;15258589;15299030;15306667;15327769;15339662;1535557;15456846;15459198;15467451;15498487;15507212;15525651;15546618;15564375;15572030;15579463;15637081;15664191;15681612;15705883;15710605;15711535;15721257;15723797;15735151;15737063;15737233;15752359;15788536;15851477;15864301;15866170;15896703;15899852;15907845;15916963;15944396;16041367;16082208;16093354;1614537;16163388;16179258;16179259;16186820;16195327;16209946;16284618;16292343;16294014;16341016;16341017;16357211;16364920;16373505;16402859;16408927;16431927;16439214;16452507;16456541;16462731;16474402;16479008;16508002;16537381;16541025;16551244;16580887;16582612;16600570;16600872;16601204;16622419;16622420;16630891;16682347;16717090;16753179;16782892;16818765;16845383;16890155;16890161;16890222;16892053;16893902;16943183;1695551;16982605;17030981;17053788;17079286;17092340;17097642;17112726;17113138;17121812;17129783;17143292;1717476;17183061;17196341;17196820;17198702;17200115;17204608;17245430;17254966;17254967;17255109;17318175;17322878;17339487;17352659;17363904;1737036;17374643;17510365;17529994;17533373;17535922;17569865;17574030;17646400;17699597;17719545;17724343;17803942;17893241;17908796;17974561;17991896;17993263;18001770;18037885;18066079;18077588;18096616;18097444;18256688;18280240;18281465;1828290;1828392;1828393;1828394;18285455;18294816;18311776;18332145;18339531;18353419;18362152;1836978;18378770;18384749;18394995;18414028;18423202;18477460;18491316;18515281;18521620;18524595;18547165;18566290;18606139;18615013;18628300;18632848;18657639;18662992;18694559;18710949;18716626;18757411;18782753;18801063;18827403;18835251;18923426;18957415;18974281;19004860;19049963;19060897;19061640;19075005;19081074;19091743;19107203;19150429;19158341;19160488;19192479;19229320;19237556;19350017;19359157;19405949;19416861;19417104;19458076;19478851;19487459;19503078;19541618;19556969;19576174;19608861;19619488;19620630;19661920;19684605;19690147;19696148;19710021;19727074;19733181;19756449;19760609;19802005;19804757;19815554;19816404;19838063;19838211;19859661;19896182;19909264;19933846;19940019;19965387;20023408;20030946;20068231;20101212;20107323;20227366;20230748;20308558;20332238;20360007;20395957;20399632;20438709;20479275;20485545;20519500;20558667;20576617;20591975;20663872;20674547;20685959;20691628;20711181;20713061;20817927;20820846;20843055;20930030;20952511;21072047;21111234;21123651;21145460;21148482;21164013;21164014;21183070;21183076;21248786;21252990;21273506;21294215;21347367;21397845;21419344;21422230;21423214;21441104;21441910;21444715;21518807;21548880;21565611;21576392;2159327;21620453;21636578;21715330;21725307;21730132;21730163;21779496;21792235;21795390;21813648;21868368;21878504;21900495;21937648;21978664;21986495;21987589;21994559;22094460;22094468;22101459;22179047;22214662;22223895;22275430;22354989;22365832;22433857;22438566;2247437;22592532;22608513;22641346;22653444;22730326;22761442;22770216;22790947;22885700;22986343;23007395;23074275;23084476;23085078;23105109;23141531;23141541;23222643;23229543;23234702;23242214;23253480;23256519;23301498;23348840;23360980;23400999;23530209;23576270;23579495;23622515;23732991;23737759;23747070;23769972;23789104;23801653;23863182;23906342;23921553;23993095;24053599;24089205;24121489;24211266;24231678;24347309;24347342;24366607;24469809;24515438;24623135;24659800;24714562;24715725;24753571;24876129;24914801;24937142;24982133;25047611;25313408;25314968;25532896;25533962;2554323;25576301;25597358;25645385;25653431;25733683;25740311;25789526;25848059;25907612;25965804;26154972;26168268;26343583;26375851;26432638;26446704;26488609;26716879;26811146;26817845;26853435;26992070;27208315;27264673;27269119;27423063;27588481;27600516;27846572;27862975;27875273;27920218;27974558;27999210;28063628;28069888;28082416;28167675;28167698;28174209;28218747;28228285;28281686;28289718;28352266;2837207;28467828;28514659;28649982;28666118;28765891;28832583;28834231;28855257;28904123;28982702;28984291;29154753;29170442;29175459;29231267;29242379;29314611;29331515;29348664;29351928;29393594;29394925;29395325;29437277;29440070;29461827;29493099;29501855;29557506;29632046;29786170;29789417;30174290;30315122;30410026;30429286;3052289;30524438;30611118;30626607;30711375;30770398;30833945;31020640;31031002;31154438;31217245;31408443;31409757;31530632;31543423;31844290;31848261;31998317;32037480;32093270;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32673515;32716602;32801355;32897882;32938616;32983136;33141586;33214551;33243860;33298915;33392160;33402344;33592498;33633399;33691108;33717175;33771996;33808629;33911136;33912179;33936100;33968037;33981976;34004147;34019948;34078123;34087483;34174402;34260926;34357683;34509645;34725712;34762484;34932366;34974812;35051231;35138101;35154160;35251023;35318648;35561310;35580925;35685460;35947956;36010968;36215666;36241641;36284347;36581221;36712380;36869814;37127961;37217939;37761890;37938771;38123684;38570683;38665916;38888850;39187513;39534244;40596516;40914422;6087160;6296685;6330098;6501302;7491766;7515177;7542586;7545299;7565688;7574501;7686617;7693978;7737117;7737357;7743995;7744815;7769006;7784084;7790358;7797074;7799941;7903669;7954814;7957050;8114739;8119945;8139570;8246996;8254721;8259518;8259519;8319905;8336704;8428596;8440392;8479525;8497257;8521512;8521513;8521514;8576172;8576179;8609386;8637718;8638126;8638161;8649453;8661426;8663227;8694763;8757136;8810342;8838651;8876196;8887688;8910500;8946678;8946910;8954786;9020159;9034327;9034343;9042862;9065402;9079663;9099992;9106657;9144196;9190208;9230313;9234708;9268380;9325318;9371714;9442054;9447971;9448290;9464277;9482734;9508775;9521856;9528799;9556553;9601641;9635432;9649308;9649503;9670027;9679058;9687506;9687510;9689060;9712716;9737981;9819388;9823899;9858547;9892021;9920933;9973466;9989501;9990852", "class_list": "", "function": "BRG1 promotes progression of B-cell acute lymphoblastic leukemia by disrupting PPP2R1A transcription. Publication Status: Online-Only, [RefSeq, PubMed]; The PPP2R1A cancer hotspot mutant p.R183W increases clofarabine resistance in uterine serous carcinoma cells by a gain-of-function mechanism., [RefSeq, PubMed]; The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit (PubMed:15525651, PubMed:16580887, PubMed:33243860, PubMed:33633399, PubMed:34004147, PubMed:8694763). Upon interaction with GNA12 promotes dephosphorylation of microtubule associated protein TAU/MAPT (PubMed:15525651). Required for proper chromosome segregation and for centromeric localization of SGO1 in mitosis (PubMed:16580887). Together with RACK1 adapter, mediates dephosphorylation of AKT1 at 'Ser-473', preventing AKT1 activation and AKT-mTOR signaling pathway (By similarity). Dephosphorylation of AKT1 is essential for regulatory T-cells (Treg) homeostasis and stability (By similarity). Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes (PubMed:18782753, PubMed:33633399). STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling (PubMed:18782753, PubMed:33633399). Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation (PubMed:18782753, PubMed:33633399). Key mediator of a quality checkpoint during transcription elongation as part of the Integrator-PP2A (INTAC) complex (PubMed:33243860, PubMed:34004147). The INTAC complex drives premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: within the INTAC complex, acts as a scaffolding subunit for PPP2CA, which catalyzes dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, thereby preventing transcriptional elongation (PubMed:33243860, PubMed:34004147). Regulates the recruitment of the SKA complex to kinetochores (PubMed:28982702)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "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": "Q13773;Q6ICQ3;Q96DH3", "ec_number_list": "", "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0004722 protein serine/threonine phosphatase activity;GO:0019888 protein phosphatase regulator activity;GO:1990405 protein antigen binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0035330 regulation of hippo signaling;GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0007059 chromosome segregation;GO:0035556 intracellular signal transduction;GO:0040008 regulation of growth", "synthesized_glycan_count": 0, "hit_score": 86.2, "record_id": "P30153-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60709-1", "uniprot_id": "ACTB_HUMAN", "mass": 41737.0, "length": 375, "protein_name": "Actin, cytoplasmic 1", "gene_name": "ACTB", "organism": "Human", "refseq_name": "actin, cytoplasmic 1", "refseq_ac": "NP_001092", "gene_names_uniprotkb": "ACTB", "gene_names_refseq": "ACTB; BKRNS; BNS; BRWS1; CSMH; DDS1; PS1TP5BP1; THC8", "protein_names_uniprotkb": "Actin, cytoplasmic 1; 3.6.4.-; Beta-actin", "protein_names_refseq": "I(2)-actin; PS1TP5-binding protein 1; actin, cytoplasmic 1; beta cytoskeletal actin", "tax_id": 9606, "disease": "Baraitser-Winter syndrome (Disease Ontology:DOID:0060229); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Baraitser-Winter syndrome 1 (Disease Ontology:DOID:0081112); hypertrophic cardiomyopathy 11 (Disease Ontology:DOID:0110317); autosomal dominant nonsyndromic deafness 20 (Disease Ontology:DOID:0110550); intestinal atresia (Disease Ontology:DOID:10486); hand, foot and mouth disease (Disease Ontology:DOID:10881); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); Moyamoya disease (Disease Ontology:DOID:13099); patent ductus arteriosus (Disease Ontology:DOID:13832); thoracic aortic aneurysm (Disease Ontology:DOID:14004); thrombocytopenia (Disease Ontology:DOID:1588); nemaline myopathy (Disease Ontology:DOID:3191); temporal lobe epilepsy (Disease Ontology:DOID:3328); congenital structural myopathy (Disease Ontology:DOID:422); myopathy (Disease Ontology:DOID:423); Becker nevus syndrome (MONDO:MONDO:0011500); developmental malformations-deafness-dystonia syndrome (MONDO:MONDO:0011823); ACTB-associated syndromic thrombocytopenia (MONDO:MONDO:0100433); congenital smooth muscle hamartoma, with or without hemihypertrophy (MONDO:MONDO:0957564)", "pathway": " (hsa:60); (R-HSA-1445148); (R-HSA-190873); (R-HSA-196025); (R-HSA-2029482); (R-HSA-3214847); (R-HSA-389957); (R-HSA-390450); (R-HSA-3928662); (R-HSA-3928665); (R-HSA-418990); (R-HSA-437239); (R-HSA-4420097); (R-HSA-445095); (R-HSA-446353); (R-HSA-5250924); (R-HSA-5626467); (R-HSA-5663213); (R-HSA-5663220); (R-HSA-5674135); (R-HSA-5689603); (R-HSA-5696394); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-8856828); (R-HSA-9035034); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9662360); (R-HSA-9662361); (R-HSA-9664422); (R-HSA-9764561); (R-HSA-9824585); (R-HSA-983231); (R-HSA-9845323); (R-HSA-9913351); (R-HSA-9933937); (R-HSA-9933939); (R-HSA-9933946); (R-HSA-9933947); (R-HSA-9934037); (R-HSA-9953170); (R-HSA-9958825)", "pathway_count": 45, "publication_count": 827, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10025409;10037737;10075701;10078207;10189375;10207622;10209122;10219243;10225955;10327243;10391953;10395673;10409742;10411937;10441321;10473551;10496324;10535736;10542231;10545507;10559856;10559861;10559924;10559936;10587587;10600384;10608864;10625686;10677529;10678165;10692392;10724160;10725339;10744763;10747093;10749680;10766823;10781580;10786633;10804209;10818153;10821263;10821277;10878810;10891492;10893187;10928857;10932245;10942431;10958683;10995436;10995437;11007481;11042108;11058585;11062261;11082044;11134074;11157975;11163272;11222639;11231140;11231582;11237011;11239472;11242053;11276226;11278486;11279143;11311002;11325826;11329366;11340081;11352924;11430802;11448999;11470803;11495720;11516654;11517213;11532965;11532990;11553796;11577110;11580899;11687588;11687658;11695992;11696015;11744692;11747816;11751636;11802164;11802165;11804587;11829459;11854399;11856727;11877457;11877461;11889126;11895428;11948177;11950885;11964381;12032298;12050160;12055636;12057195;12062444;12068308;12082080;12105426;12110184;12134158;12189167;12189515;12213210;12213833;12214271;12215529;12235133;12325076;12368262;12391143;12427746;12429848;12447393;12464388;12473660;12479806;12546821;12577064;12660731;12665801;12679033;12702722;12732141;12732143;12743368;12805219;12810700;12815074;12820653;12832465;12847086;12942088;12944386;12952949;12973357;1314888;1319059;1321344;1415343;14555962;14581451;14592989;14617351;14622578;14622579;14636584;14654843;14676198;14724572;14742321;14970219;14988728;15006353;15020713;15026417;15035987;15040784;15085137;15118098;15175026;15239952;15247219;15247287;15252009;15260957;15260967;15308668;15313887;15318165;15328537;15339664;15351694;1537333;1537334;15378065;15452139;15502812;15502813;15507212;15520807;15543135;15543157;15547943;15548136;15558034;15565337;15592455;15630448;15640446;15649145;15657136;15688067;15695812;15695828;15703209;15710388;15721239;15729346;15802264;15811629;15848800;15864301;15866170;15882621;15895077;15916959;15919790;15944396;15962004;15964821;15971998;15985610;16054028;16103228;16135787;16139798;16215232;16223728;16262445;16265664;16292343;16298995;16303920;1630448;16326391;16330023;16336962;16364920;16387653;16408927;16410077;16439214;16467305;16473935;16497976;16508002;16511497;16511561;16514417;16516836;16524571;16531412;16546099;16597699;16603771;16622419;16622420;16641196;16678110;16685646;16702231;16702958;16707488;16760434;16777452;16798879;16879721;16880201;16880396;16880808;16903783;16904324;16906146;16943183;16966330;17018281;17018604;17027967;17030947;17030981;17035995;17108328;17129783;17139257;17145850;17158794;17178906;17182843;17188549;17196961;17198702;17199126;17202194;17223356;17237347;17244649;17289661;17293873;17308335;1734024;17369524;1737036;17428795;17440041;17494869;17496912;17498659;17512409;17540576;17548511;17563371;17603482;17603483;17609109;17640523;17681954;17686471;17762867;17765681;17823310;17882165;17905726;17952075;17967169;17978091;17995453;18001770;18070890;18088087;18093523;18097444;18237546;18287029;18292551;18369606;18381289;18388313;18391171;18478542;1847920;18483556;18497827;18555777;18559533;18562239;18566446;18623064;18697795;18713744;18764929;18765789;18790740;18802091;18809673;18812475;18923426;18974108;18981233;18991276;19013499;19015515;19079338;19091303;19092055;19109893;19187765;19188440;19219045;19230644;19242111;19252894;19267251;19278660;19279408;19287005;19293402;19296720;19346169;19350017;19354288;19377461;19389701;19458185;19467855;19531498;19536138;19553453;19575674;19603039;19609301;19664995;19696796;19713939;19717472;19737400;19741094;19776351;19809571;19815554;19815555;19933846;19946898;19955216;20018852;20030946;20033059;20044576;20052757;20058876;20059951;20101212;20112406;20130576;20141835;20179705;20211604;20231386;20233848;20305658;20371349;20428113;20436459;20448150;20496116;20526349;20530532;20591975;20627800;20631154;20658524;20701589;20805357;20818844;20826345;20837646;20855601;20858867;20937701;20946875;21037092;21107323;21119010;21135142;21148482;21151871;2115402;21187331;21278753;21299499;21316588;21388382;21397845;21419341;21424530;21445309;21445324;21454505;21454690;21482805;21499258;21514245;21555369;21555454;21559432;21576392;21605113;21613550;21639808;21730051;21779028;21779496;21784453;2183031;21841790;21868368;218813;21883765;21907143;21927000;21927001;21962517;21969592;21993244;2201922;22036506;22043453;22094460;22099461;22113612;22117219;22118460;22121020;22159078;22177953;22223806;22223895;22233676;22275430;22292133;22327215;22356324;22366783;22395615;22464331;22484487;22505844;22510884;22569528;22589270;22608513;22689825;22745804;22790947;22815487;22826437;22863004;22944912;22952240;22967762;23045548;23096567;23171796;23216836;23222643;23288408;23297414;23301498;23319653;23352452;23453624;23536704;23555303;23555621;23576270;23583981;23614898;23644491;23649928;23667175;23667505;23673617;23675550;23680146;23756437;23785148;23801653;23823722;23861397;23875798;23890271;23891661;23934108;24029068;2405250;24121058;24130457;24135138;24186068;24202393;24267888;24345920;24366607;2448316;24581490;24651010;2474607;24746704;24789820;24901984;24914801;24937142;24952918;24957944;24966051;25052316;25107275;25195011;25204415;25255767;25303366;2530630;25313996;25341920;25372031;25435214;25469497;2550440;25505266;25668492;25810538;25880248;25907612;26042225;26154972;26214590;26228148;26365797;26375851;26386427;26403691;26601204;26694611;26811146;26845023;26853435;27227380;27278019;27397612;27481945;27625340;27862975;28317937;28347698;28352266;28467828;28487785;28510447;28514659;28533407;28604741;28645896;28649982;28904123;28939558;29220674;29242379;29343822;29351928;29374058;29437277;29467321;29493099;29557506;29581253;29771506;29788902;29925947;2994062;30028079;30034615;30315159;30397120;30410026;30429286;30444036;30515787;30526847;30626607;30626964;30733661;30785395;30794926;30833945;31020640;31091448;31222486;31268602;31388018;31530632;31611695;31844290;31871319;31911441;31970217;32119511;32170967;32350084;32357974;32387766;32488085;32502341;32503840;32510692;32581219;3282674;3287375;33043033;33091337;33100333;33123756;33214551;33298915;33392160;33592498;33876762;33936100;33968037;33981976;34019948;34078123;3409321;34171305;34215617;34357683;34433824;34465901;34932366;35005077;35154160;35313204;35580127;35580925;36173861;36215666;36284347;36580660;36581221;37217939;37340703;37938771;38359823;38518401;38609661;38665916;39302247;39321809;39394410;39395807;39990658;40596516;6146630;6322116;6842590;7478585;7493978;7499850;7509446;7510216;7512451;7512561;7527495;7547961;7565670;7565795;7592992;7731720;7806582;7813420;7844150;7848918;7877694;7925941;7929275;7935411;8043271;8051079;8094051;8140422;8157000;8168482;8234276;8268918;8306979;8349731;8524399;8552632;8576247;8607994;8617235;8626374;8627307;8662591;8662638;8662795;8664345;8756646;8798539;8798547;8804307;8809042;8816476;8830800;8845841;8921401;8986718;9020159;9065479;9092476;9099726;9100026;9182576;9199170;9214383;9219219;9230307;9326583;9331217;9368021;9393975;9398617;9405466;9412493;9422515;9427626;9427644;9428629;9472046;9528852;9558366;9600938;9635431;9649308;9651214;9652404;9694656;9705280;9721721;9733512;9736607;9758418;9790970;9799231;9843499;9845526;9858547;9864373;9880483;9883880;9885284;9927674", "class_list": "glycogene", "function": "Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells (PubMed:25255767, PubMed:29581253). Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction (PubMed:29581253). In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA (PubMed:29925947). Plays a role in the assembly of the gamma-tubulin ring complex (gTuRC), which regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments (PubMed:39321809, PubMed:38609661). Part of the ACTR1A/ACTB filament around which the dynactin complex is built (By similarity). The dynactin multiprotein complex activates the molecular motor dynein for ultra-processive transport along microtubules (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Baraitser-Winter cerebrofrontofacial syndrome is caused by missense mutations in the cytoplasmic beta- and gamma-actin genes ACTB and ACTG1. We provide an overview of the clinical characteristics (including some novel findings in four recently diagnosed patients), diagnosis, management, mutation spectrum and genetic counselling. Review article, [RefSeq, PubMed]; CRISPR/Cas9-mediated editing of ACTB in induced pluripotent stem cells: A model for investigating human ACTB loss-of-function and genetic adaptive responses., [RefSeq, PubMed]; This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [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": 1, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 495, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 20, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "P02570;P70514;P99021;Q11211;Q64316;Q75MN2;Q96B34;Q96HG5", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;2.7.11.1;2.3.2.27;3.1.3.-;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;2.7.7.6;2.7.10.1;3.6.5.2;3.1.27.-;3.1.3.1;3.9.1.1;3.6.5.-;2.7.10.2;4.2.99.18;5.6.1.6;1.14.18.1;1.14.18.-;5.6.2.3;3.6.4.12;2.7.11.24;2.7.12.2;3.4.21.53;5.6.2.5;2.7.10.4;2.7.11.26;3.6.5.5;3.1.-.-;1.14.11.-;2.3.2.32;7.6.2.1;3.1.3.86;3.1.3.56;3.1.3.36;3.5.1.-;3.5.1.98;3.1.3.95;7.2.2.-;2.7.1.107;2.7.1.94;2.7.1.138;5.6.2.-;2.7.7.-;2.7.7.19;2.3.2.-;1.16.1.-;1.14.11.65;2.3.2.31;3.1.31.1;2.3.2.26;3.6.1.15;3.1.4.-;3.6.-.-;3.4.-.-;2.3.1.48;2.3.1.-;3.4.24.-;3.1.13.1;5.6.2.6;1.8.-.-;3.4.22.-;2.7.4.3;3.4.19.12;2.1.1.37;2.1.1.-", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0044305 calyx of Held;GO:0098871 postsynaptic actin cytoskeleton;GO:0005615 extracellular space;GO:0005634 nucleus", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:2000819 regulation of nucleotide-excision repair;GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007409 axonogenesis", "synthesized_glycan_count": 0, "hit_score": 84.3, "record_id": "P60709-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y3M2-1", "uniprot_id": "CBY1_HUMAN", "mass": 14470.0, "length": 126, "protein_name": "Protein chibby homolog 1", "gene_name": "CBY1", "organism": "Human", "refseq_name": "protein chibby homolog 1", "refseq_ac": "NP_056188", "gene_names_uniprotkb": "CBY1; ARB1; C22orf2; CBY; HRIHFB2025; PGEA1", "gene_names_refseq": "C22orf2; CBY1; CBY; Chibby1; HS508I15A; PGEA1; PIGEA-14; PIGEA14; arb1", "protein_names_uniprotkb": "Protein chibby homolog 1; ARPP-binding protein; Cytosolic leucine-rich protein; PIGEA-14; PKD2 interactor, Golgi and endoplasmic reticulum-associated 1", "protein_names_refseq": "ARPP-binding protein; PKD2 interactor, Golgi and endoplasmic reticulum-associated 1; chibby CTNNB1-mediated transcription inhibitor; chibby family member 1, beta catenin antagonist; chibby homolog 1; coiled-coil protein PIGEA-14; cytosolic leucine-rich protein; polycystin-2 interactor, Golgi- and endoplasmic reticulum-associated protein, 14 kDa; protein chibby homolog 1", "tax_id": 9606, "disease": "otitis media (Disease Ontology:DOID:10754); primary ciliary dyskinesia (Disease Ontology:DOID:9562)", "pathway": " (hsa:25776); (R-HSA-3769402)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10549281;10898789;10921920;10944533;11230166;11237011;11691915;12408824;12408825;12712206;14600025;14685266;15132997;15194699;15327769;15525529;16424001;16510874;17218525;17412698;17698607;17875931;18378692;18456656;18477386;18573912;18598779;18819930;19047045;19364920;19413330;19435523;19590513;19928349;19940019;21182262;22304967;23186163;24291232;25909186;27528616;28218747;28832583;29242379;29437277;29557506;29786170;30315122;30395363;30410026;30429286;31154438;31530632;31844290;31848261;32157095;32983136;33131181;33592498;33934099;35580925;36010968;36284347;39894887", "class_list": "", "function": "A novel Lnc408 maintains breast cancer stem cell stemness by recruiting SP3 to suppress CBY1 transcription and increasing nuclear beta-catenin levels. Publication Status: Online-Only, [RefSeq, PubMed]; Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Chibby inhibits beta-catenin-mediated transcriptional activation by competing with Lef-1 to bind to beta-catenin, [RefSeq, PubMed]; Inhibits the Wnt/Wingless pathway by binding to CTNNB1/beta-catenin and inhibiting beta-catenin-mediated transcriptional activation through competition with TCF/LEF transcription factors (PubMed:12712206, PubMed:19435523). Has also been shown to play a role in regulating the intracellular trafficking of polycystin-2/PKD2 and possibly of other intracellular proteins (PubMed:15194699). Promotes adipocyte and cardiomyocyte differentiation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome., [RefSeq, PubMed]; PIGEA-14 plays an important role in regulating the intracellular location of polycystin-2, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 4, "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": "B2R4S2;Q66GT6;Q9UIK9", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0045892 negative regulation of DNA-templated transcription;GO:0045444 fat cell differentiation;GO:0008104 intracellular protein localization;GO:0030178 negative regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9Y3M2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q01850-1", "uniprot_id": "CDR2_HUMAN", "mass": 51855.0, "length": 454, "protein_name": "Cerebellar degeneration-related protein 2", "gene_name": "CDR2", "organism": "Human", "refseq_name": "cerebellar degeneration-related protein 2", "refseq_ac": "NP_001793", "gene_names_uniprotkb": "CDR2; PCD17", "gene_names_refseq": "CDR2; CDR62; Yo", "protein_names_uniprotkb": "Cerebellar degeneration-related protein 2; Major Yo paraneoplastic antigen; Paraneoplastic cerebellar degeneration-associated antigen", "protein_names_refseq": "Yo paraneoplastic antigen; cerebellar degeneration-related protein 2, 62kDa; cerebellar degeneration-related protein 2; major Yo paraneoplastic antigen; paraneoplastic cerebellar degeneration-associated antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:1039)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;18669648;19664995;2014264;20230923;2260856;23186163;23301498;23481700;24366607;24714562;24715725;25576301;25880248;26154972;26375851;26728094;26992070;27600516;27846572;27920218;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29786170;29789417;30315122;30429286;30833945;31530632;31844290;31848261;31998317;32157095;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33398662;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34932366;35051231;35580925;36010968;36284347;36912432", "class_list": "", "function": "A cerebellar degeneration-related protein 2-like cell-based assay for anti-Yo detection in patients with paraneoplastic cerebellar degeneration., [RefSeq, PubMed]; MicroRNA 452 regulates ASB8, NOL8, and CDR2 expression in colorectal cancer cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8A8;Q13977", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q01850-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UI95-1", "uniprot_id": "MD2L2_HUMAN", "mass": 24334.0, "length": 211, "protein_name": "Mitotic spindle assembly checkpoint protein MAD2B", "gene_name": "MAD2L2", "organism": "Human", "refseq_name": "mitotic spindle assembly checkpoint protein MAD2B", "refseq_ac": "NP_001120797", "gene_names_uniprotkb": "MAD2L2; MAD2B; REV7", "gene_names_refseq": "FANCV; MAD2B; MAD2L2; POLZ2; REV7", "protein_names_uniprotkb": "Mitotic spindle assembly checkpoint protein MAD2B; MAD2-like protein 2; Mitotic arrest deficient 2-like protein 2; REV7 homolog; hREV7", "protein_names_refseq": "MAD2 (mitotic arrest deficient, yeast, homolog)-like 2; MAD2 mitotic arrest deficient-like 2; MAD2-like protein 2; REV7 homolog; hREV7; mitotic arrest deficient 2-like protein 2; mitotic arrest deficient homolog-like 2; mitotic spindle assembly checkpoint protein MAD2B; polymerase (DNA-directed), zeta 2, accessory subunit", "tax_id": 9606, "disease": "Fanconi anemia complementation group V (Disease Ontology:DOID:0111080)", "pathway": " (hsa:10459); (R-HSA-110312); (R-HSA-5655862); (R-HSA-5656121); (R-HSA-5656169)", "pathway_count": 5, "publication_count": 137, "publication_id_list": "10366450;10527948;10536157;10660610;10760286;10801132;10856253;10887153;10984059;11006276;11058110;11237011;11459825;11459826;11485998;11717438;11784855;11917024;12145297;12444249;12584190;12952891;14657033;15189446;15199127;15254543;15475561;15657443;16344468;16357261;16611994;16819516;17043239;17296730;17517887;17541814;17719540;18242152;19153606;19170759;19443654;19492058;19753112;20159559;20164194;20660785;20850016;20952260;21063390;21143968;21628590;22424782;22700975;22721435;22772988;22859295;22859296;22898188;23000965;23143872;23593430;24366607;24449906;24648516;24715725;24768535;25576301;25880248;26154972;26992070;27500492;27600516;27846572;27920218;28228285;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29656893;29786170;30315122;30410026;30429286;30524438;30779550;31222486;31530632;31844290;31848261;31937595;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34354233;34405274;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;37094431;38017538;38167649;38515112;38557443;3941892;8658138;8751446", "class_list": "", "function": "AURKB promotes bladder cancer progression by deregulating the p53 DNA damage response pathway via MAD2L2. Publication Status: Online-Only, [RefSeq, PubMed]; Adapter protein able to interact with different proteins and involved in different biological processes (PubMed:11459825, PubMed:11459826, PubMed:17296730, PubMed:17719540, PubMed:19443654, PubMed:29656893). Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis (PubMed:20164194, PubMed:23143872). Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions (PubMed:20164194). Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs) (PubMed:29656893). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection (PubMed:29656893). Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres (PubMed:29656893). May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1 (PubMed:17296730). Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle (PubMed:11459825, PubMed:17719540). Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation (PubMed:19443654)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identification of the promoter region regulating the transcription of the REV7 gene., [RefSeq, PubMed]; MAD2L2, a key regulator in ovarian cancer and promoting tumor progression. Publication Status: Online-Only, [RefSeq, PubMed]; REV7-p53 interaction inhibits ATM-mediated DNA damage signaling., [RefSeq, PubMed]; The promoting effect and mechanism of MAD2L2 on stemness maintenance and malignant progression in glioma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [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": 6, "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": "B3KNE3;Q5TGW7;Q9UNA7;Q9Y6I6", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0003714 transcription corepressor activity;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0008432 JUN kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005819 spindle;GO:0000785 chromatin", "go_biological_process": "GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining;GO:0043247 telomere maintenance in response to DNA damage;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "Q9UI95-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43356-1", "uniprot_id": "MAGA2_HUMAN", "mass": 35055.0, "length": 314, "protein_name": "Melanoma-associated antigen 2", "gene_name": "MAGEA2B; MAGEA2", "organism": "Human", "refseq_name": "melanoma-associated antigen 2", "refseq_ac": "NP_001269430", "gene_names_uniprotkb": "MAGEA2B; MAGEA2; MAGE2; MAGEA2A; MAGEA2B; MAGEA2", "gene_names_refseq": "CT1.2; MAGE2; MAGEA2A; MAGEA2", "protein_names_uniprotkb": "Melanoma-associated antigen 2; CT1.2; Cancer/testis antigen 1.2; MAGE-2 antigen", "protein_names_refseq": "MAGE-2 antigen; cancer/testis antigen 1.2; cancer/testis antigen family 1, member 2; melanoma antigen 2; melanoma antigen family A, 2; melanoma antigen family A2; melanoma-associated antigen 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:266740); (hsa:4101)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10854409;11237011;16847267;16912206;17942928;20068231;20864041;22117195;24366607;24802712;27846572;29741879;31844290;32265295;32488085;32772147;32938616;33091337;33298915;33968037;34171305;34290406;34837545;35051231;35318648;35874702;36010968;36241641;36768214;37586765;38925815;39394480;8113684;8276455;9366399", "class_list": "", "function": "HMAGEA2 Accelerates the Progression of Prostate Cancer via the EFNA3-Erk1/2 Signaling Pathway., [RefSeq, PubMed]; Overexpression of melanoma-associated antigen A2 has a clinical significance in embryonal carcinoma and is associated with tumor progression., [RefSeq, PubMed]; Reduced cytoplasmic expression of MAGE-A2 predicts tumor aggressiveness and survival: an immunohistochemical analysis., [RefSeq, PubMed]; Reduces p53/TP53 transactivation function through recruitment of HDAC3 to p53/TP53 transcription sites. Also represses p73/TP73 activity. Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination by TRIM28 potentially in presence of Ubl-conjugating enzyme UBE2H. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in embryonal development and tumor transformation or aspects of tumor progression. In vitro promotes cell viability in melanoma cell lines. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes. Negatively regulates acetylation and sumoylation of PML and represses PML-induced p53/TP53 acetylation and activation., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K328;Q32NC6", "ec_number_list": "", "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0042826 histone deacetylase binding;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016605 PML body", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0030163 protein catabolic process;GO:0090398 cellular senescence;GO:0051443 positive regulation of ubiquitin-protein transferase activity", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "P43356-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NP66-1", "uniprot_id": "HM20A_HUMAN", "mass": 40144.0, "length": 347, "protein_name": "High mobility group protein 20A", "gene_name": "HMG20A", "organism": "Human", "refseq_name": "high mobility group protein 20A isoform a", "refseq_ac": "NP_001291433", "gene_names_uniprotkb": "HMG20A; HMGX1; HMGXB1", "gene_names_refseq": "HMG20A; HMGX1; HMGXB1", "protein_names_uniprotkb": "High mobility group protein 20A; HMG box-containing protein 20A; HMG domain-containing protein 1; HMG domain-containing protein HMGX1", "protein_names_refseq": "HMG box domain containing 1; HMG box-containing protein 20A; HMG domain-containing protein 1; HMG domain-containing protein HMGX1; high mobility group protein 20A isoform a; high mobility group protein 20A", "tax_id": 9606, "disease": "", "pathway": " (hsa:10363)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10773667;11237011;18669648;19007248;19690332;19691289;20068231;20530487;21406692;22544926;23186163;23481700;24275569;24715725;25576301;25645385;25880248;26154972;27600516;27846572;27920218;28228285;28832583;29242379;29493099;29557506;29786170;30315122;30410026;30429286;30484775;30524438;31154438;31222486;31530632;31844290;31848261;31937595;32157095;32329795;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33808200;33912179;33936100;33968037;33981976;34019948;34509645;34561969;35051231;35561310;36010968;36124662;36284347;36335317", "class_list": "", "function": "Beta-dystrobrevin interacts with the HMG20 proteins iBRAF and BRAF35, [RefSeq, PubMed]; HMG20A was identified as a key enhancer driver associated with DNA damage repair in oral squamous cell carcinomas. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and Biochemical Characterization of High Mobility Group Protein 20A as a Novel Ca(2+)/S100A6 Target. Publication Status: Online-Only, [RefSeq, PubMed]; Influence of IGF2BP2, HMG20A, and HNF1B genetic polymorphisms on the susceptibility to Type 2 diabetes mellitus in Chinese Han population., [RefSeq, PubMed]; Plays a role in neuronal differentiation as chromatin-associated protein. Acts as inhibitor of HMG20B. Overcomes the repressive effects of the neuronal silencer REST and induces the activation of neuronal-specific genes. Involved in the recruitment of the histone methyltransferase KMT2A/MLL1 and consequent increased methylation of histone H3 lysine 4 (By similarity)., [UniProtKB]; The high mobility group protein HMG20A cooperates with the histone reader PHF14 to modulate TGFbeta and Hippo pathways., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A6NHY3;D3DW78;Q53G31;Q9NSF6", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0006325 chromatin organization;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9NP66-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P37198-1", "uniprot_id": "NUP62_HUMAN", "mass": 53255.0, "length": 522, "protein_name": "Nuclear pore glycoprotein p62", "gene_name": "NUP62", "organism": "Human", "refseq_name": "nuclear pore glycoprotein p62", "refseq_ac": "NP_001180286", "gene_names_uniprotkb": "NUP62", "gene_names_refseq": "IBSN; NUP62; SNDI; p62", "protein_names_uniprotkb": "Nuclear pore glycoprotein p62; 62 kDa nucleoporin; Nucleoporin Nup62", "protein_names_refseq": "62 kDa nucleoporin; nuclear pore glycoprotein p62; nucleoporin 62kDa; nucleoporin 62kD; nucleoporin Nup62", "tax_id": 9606, "disease": "primary biliary cholangitis (Disease Ontology:DOID:12236); striatonigral degeneration (Disease Ontology:DOID:4751)", "pathway": " (hsa:23636); (R-HSA-1169408); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-6784531); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9615933); (R-HSA-9705671)", "pathway_count": 32, "publication_count": 511, "publication_id_list": "10205180;10228171;10323864;10444065;10489353;10526235;10531003;10556282;10574707;10601273;10601333;10668806;10725331;10759568;10827188;10846107;10851237;10862613;10911995;10920397;10926833;10954706;11014198;11073998;11095724;11112487;11118210;11124902;11157743;11231159;11231581;11237011;11256625;11259411;11259602;11289803;11333016;11451485;11455963;11502751;11514627;11579093;11709553;11714716;11727826;11739738;11747420;11748230;11756420;11788588;11792325;11836381;11871657;11889051;11909533;11932251;11960997;12003494;12019269;12027805;12032081;12065586;12072510;12093754;12095920;12121577;12138183;12149243;12196509;12228227;12393906;12441251;12525615;12526808;12582176;12589057;12692549;12711671;12729736;12747803;12759408;12776181;12802065;12832072;12853476;12857923;12874386;12917326;12974469;14516784;14578449;14627435;14654843;14701874;15082759;15109492;15120988;15131269;15161980;15175327;15199155;15208624;1531330;15317868;15355988;15364926;15378033;15485925;15574331;15592428;15608651;15702989;15731250;15802566;15823533;15829507;15831457;1586970;15931174;15940266;15959518;15989970;16009940;16030353;16112642;16122702;16139798;16140760;16194093;16278218;16314397;16352599;16361254;16407192;16428300;16478998;16608850;16608852;16626738;16688858;16699525;16710424;16715065;16775314;16786527;16810316;16815975;16872604;16914094;16933365;17000901;17018294;17081640;17098863;17132145;17183683;17204286;17224653;17235358;17289916;17317185;17376915;17412958;1754405;17690096;17693435;17698605;17705785;18203656;18226598;18235501;18235502;18266911;18287095;18305167;18316408;18364396;18381449;18394993;18408014;18411249;18423201;18535146;18550409;18583345;18625722;18628979;18691969;18708356;18809514;18946085;18984158;19073728;19125153;1915414;19229036;19270716;19287951;1944575;19494120;19596686;19622798;19640981;19651622;19682613;19690332;19706679;19779455;1985200;19914676;19956565;20016594;20016603;20058876;20068231;20098713;20129943;20133869;2017161;2017166;20190268;20219937;20300531;20305658;20308324;20351170;20385878;20417598;20630994;20663916;20680651;20705237;20797632;20797634;20953181;20972456;20974803;20974814;21098080;21147198;21167178;21284855;21300897;21311021;21335236;21450806;21550342;21554500;21559454;21593607;21647297;21690215;21698267;21740066;22121020;22174689;22223895;22402492;22457066;22464730;22465953;22493095;22508508;22541429;22544926;22623767;22635276;22661230;22732409;22735644;22751501;22825850;22893130;22940245;22941947;22944664;23092970;23186163;23299939;23301498;23349863;23481700;23582887;23652018;23750026;23777819;23804756;23826332;23871147;24002598;24027577;24068740;24107630;24366607;24369422;2470644;24714562;24715725;24782567;24870230;25114211;25218447;25391492;25576301;25602437;25640237;25645385;25704882;25723178;25849199;26154972;26572645;26728094;26811146;26992070;27056667;27068747;27501258;27600516;27655845;27846572;27920218;27935279;28218747;28228285;28415052;28510447;28657654;28686627;28832583;28834231;28860189;29237092;29242379;29351928;29393594;29493099;29508533;29557506;29632711;29769354;29771506;29786170;30169966;30296064;30315122;30355688;30360396;30397120;30429286;30543681;30761409;30833945;31154438;31217245;31492838;31530632;31626249;31844290;31848261;31850239;31937595;31998317;32119511;32157095;32161166;32350084;32353859;32357974;32387766;32428392;32502341;32589897;32726803;32728199;32870666;32897882;32938616;32938750;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33141586;33214551;33298915;33349665;33360543;33372174;33372854;33395605;33396605;33440148;33465208;33479219;33495715;33514628;33567255;33592498;33686291;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33950562;33963333;33968037;33981976;33989516;33990585;34019948;34021074;34054808;34084167;34087483;34110168;34166398;34211107;34239064;34290717;34341353;34375313;34400613;34405274;34439781;34452305;34471099;34502139;34509645;34532545;34597346;34638625;34725712;34846842;35051231;35083852;35102342;35154160;35254053;35289036;35318648;35580925;35643212;36010968;36241641;36284347;36598936;37051252;37174682;37340703;37400749;37802024;37938771;38322164;38665916;38838015;39302247;39531497;39534244;40136647;40596516;40914422;41018975;6261960;6930639;7559393;7585962;7759547;7769657;7828588;7878053;7958838;8113738;8196654;8313914;8721986;8805303;8946918;9019411;9079710;9092824;9305631;9405152;9412458;9436978;9452416;9497385;9512417;9525617;9582382;9618489;9651582;9660920;9660949;9721187;9755184;9756909;9837918;9845364;9873016;9885291;9920933", "class_list": "", "function": "Autophagy Receptor p62 Regulates SARS-CoV-2-Induced Inflammation in COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; Essential component of the nuclear pore complex (PubMed:1915414). The N-terminal is probably involved in nucleocytoplasmic transport (PubMed:1915414). The C-terminal is involved in protein-protein interaction probably via coiled-coil formation, promotes its association with centrosomes and may function in anchorage of p62 to the pore complex (PubMed:1915414, PubMed:24107630). Plays a role in mitotic cell cycle progression by regulating centrosome segregation, centriole maturation and spindle orientation (PubMed:24107630). It might be involved in protein recruitment to the centrosome after nuclear breakdown (PubMed:24107630)., [UniProtKB, PubMed, PubMed]; Essential component of the nuclear pore complex. The N-terminal is probably involved in nucleocytoplasmic transport. The C-terminal is involved in protein-protein interaction probably via coiled-coil formation, promotes its association with centrosomes and may function in anchorage of p62 to the pore complex. Plays a role in mitotic cell cycle progression by regulating centrosome segregation, centriole maturation and spindle orientation. It might be involved in protein recruitment to the centrosome after nuclear breakdown., [UniProtKB, UniProtKB]; Expression and Clinical Significance of IRE1-XBP1s, p62, and Caspase-3 in Colorectal Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Realgar-Induced Neurotoxicity: Crosstalk Between the Autophagic Flux and the p62-NRF2 Feedback Loop Mediates p62 Accumulation to Promote Apoptosis., [RefSeq, PubMed]; S-acylation of p62 promotes p62 droplet recruitment into autophagosomes in mammalian autophagy., [RefSeq, PubMed]; The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [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": 5, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 101, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 101, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 101, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 141, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 101, "binding_glycan_count": 0, "secondary_ac_list": "B3KWU5;Q503A4;Q6GTM2;Q96C43;Q9NSL1", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0005543 phospholipid binding;GO:0051425 PTB domain binding;GO:0042169 SH2 domain binding;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0046601 positive regulation of centriole replication;GO:0046580 negative regulation of Ras protein signal transduction;GO:1903438 positive regulation of mitotic cytokinetic process;GO:0006913 nucleocytoplasmic transport;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 61.5, "record_id": "P37198-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99759-1", "uniprot_id": "M3K3_HUMAN", "mass": 70898.0, "length": 626, "protein_name": "Mitogen-activated protein kinase kinase kinase 3", "gene_name": "MAP3K3", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 3 isoform 2", "refseq_ac": "NP_002392", "gene_names_uniprotkb": "MAP3K3; MAPKKK3; MEKK3", "gene_names_refseq": "CCM5; MAP3K3; MAPKKK3; MEKK3", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 3; 2.7.11.25; MAPK/ERK kinase kinase 3; MEK kinase 3; MEKK 3", "protein_names_refseq": "MAP/ERK kinase kinase 3; MAPK/ERK kinase kinase 3; MEK kinase 3; MEKK 3; mitogen-activated protein kinase kinase kinase 3 isoform 2", "tax_id": 9606, "disease": "cerebral cavernous malformations 5 (MONDO:MONDO:0975952)", "pathway": " (hsa:4215); (R-HSA-9020702)", "pathway_count": 2, "publication_count": 111, "publication_id_list": "10075690;10514433;10671200;10702308;10854325;10882101;10918611;11094434;11237011;11960013;12392720;12496252;12538665;12761204;12761205;12791687;12860405;12912994;14625308;14661019;14743216;15917247;16407301;17135271;17141195;17344846;17507369;17675297;17890055;17924679;17997719;18070982;18180283;1828071;18308725;1833184;18438411;18691976;19264966;19369195;19413330;19651622;19690332;19903815;20058876;20068038;2139180;2147937;23186163;23481700;24715725;25645385;25892735;26375851;26992070;27466718;27600516;27846572;27862975;28514659;28832583;28855257;28904123;29242379;29393594;2946959;29493099;29557506;29632711;29769354;29786170;30315122;30429286;30484775;30833945;31154438;31217245;31844290;31848261;32157095;32161166;32387766;32502341;32983136;33571521;33729480;33891857;33968037;33981976;34171305;34189997;34509645;35051231;35561310;35580925;36241641;36284347;37658401;37938771;7628694;8327496;8332913;8599092;8837778;9006902;9346484;9371760;9430229;9859996;9990852;9990853", "class_list": "", "function": "Circ_0006988 promotes the proliferation, metastasis and angiogenesis of non-small cell lung cancer cells by modulating miR-491-5p/MAP3K3 axis., [RefSeq, PubMed]; Component of a protein kinase signal transduction cascade. Mediates activation of the NF-kappa-B, AP1 and DDIT3 transcriptional regulators., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations. Publication Status: Online-Only, [RefSeq, PubMed]; This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [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": 28, "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": "B2RCW2;D3DU15;Q5BKZ6;Q8N3I9", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0004709 MAP kinase kinase kinase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0000165 MAPK cascade;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0046777 protein autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q99759-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75821-1", "uniprot_id": "EIF3G_HUMAN", "mass": 35611.0, "length": 320, "protein_name": "Eukaryotic translation initiation factor 3 subunit G", "gene_name": "EIF3G", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 3 subunit G", "refseq_ac": "NP_003746", "gene_names_uniprotkb": "EIF3G; EIF3S4", "gene_names_refseq": "EIF3-P42; EIF3G; EIF3S4; eIF3-delta; eIF3-p44", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 3 subunit G; Eukaryotic translation initiation factor 3 RNA-binding subunit; Eukaryotic translation initiation factor 3 subunit 4; eIF-3 RNA-binding subunit; eIF-3-delta; eIF3 p42; eIF3 p44; eIF3g", "protein_names_refseq": "eukaryotic translation initiation factor 3 RNA-binding subunit; eukaryotic translation initiation factor 3 subunit G; eukaryotic translation initiation factor 3 subunit p42; eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa", "tax_id": 9606, "disease": "arteriosclerosis (Disease Ontology:DOID:2349); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:8666); (R-HSA-156827); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706)", "pathway_count": 7, "publication_count": 138, "publication_id_list": "10.1101/2023.09.13.557529;10364207;10659855;1095581;11018020;1104615;11237011;12493757;12588972;14519125;14567916;14688252;15302935;15703437;16322461;16766523;17081983;17094969;17287340;17322306;17322308;17581632;18056426;18452278;18491316;1856230;18599441;18669648;18707149;19413330;19651622;19664995;19690332;20058876;20068231;20230923;20305658;21740066;22645359;23186163;23301498;23328677;24275569;24366607;24714562;24715725;25367160;25418920;25576301;25645385;25810538;25849773;25892735;26100019;26154972;26375851;26929215;26992070;27462815;27600516;27846572;27920218;28228285;28446606;28510447;28832583;28834231;28904123;29242379;29317506;29393594;29493099;29508533;29557506;29632711;29786170;29789417;30192525;30315122;30459171;30484775;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31937595;32119511;32157095;32161166;32357974;32488085;32502341;32938616;32983136;33123756;33141586;33298915;33392160;33465208;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34171305;34211107;34229054;34725712;34932366;35051231;35580925;36010968;36215666;37811880;37821106;37938771;38665916;39990658;40596516;40914422;429297;592398;592399;641056;6853548;6901506;7000367;8943342;9045610;9732867;9822659;9857202;9973622", "class_list": "", "function": "(Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426)., [UniProtKB, PubMed]; An interaction between eIF4A3 and eIF3g drives the internal initiation of translation., [RefSeq, PubMed]; 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]; 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, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed: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). This subunit can bind 18S rRNA., [UniProtKB, PubMed, HAMAP, PubMed, PubMed]; This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [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": 1, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "O14801;Q969U5", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0016282 eukaryotic 43S preinitiation complex;GO:0033290 eukaryotic 48S preinitiation complex", "go_biological_process": "GO:0006413 translational initiation;GO:0001732 formation of cytoplasmic translation initiation complex;GO:0075525 viral translational termination-reinitiation", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "O75821-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08047-1", "uniprot_id": "SP1_HUMAN", "mass": 80693.0, "length": 785, "protein_name": "Transcription factor Sp1", "gene_name": "SP1", "organism": "Human", "refseq_name": "transcription factor Sp1 isoform c", "refseq_ac": "NP_001238754", "gene_names_uniprotkb": "SP1; TSFP1", "gene_names_refseq": "SP1", "protein_names_uniprotkb": "Transcription factor Sp1", "protein_names_refseq": "specificity protein 1; transcription factor Sp1 isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:6667); (R-HSA-1989781); (R-HSA-2173796); (R-HSA-2426168); (R-HSA-2559585); (R-HSA-6807505); (R-HSA-9018519); (R-HSA-9735871); (R-HSA-9762293); (R-HSA-9764790); (R-HSA-9818030); (R-HSA-9839394)", "pathway_count": 12, "publication_count": 440, "publication_id_list": "10022869;10022900;10199400;10358095;10391891;10400691;10500157;10759542;10777541;10828826;10873660;10973950;10976766;11007770;11010967;11013220;11034064;11103799;11136970;11165043;11234019;11237011;11267664;11274402;11345900;11371615;11410592;11414710;11424093;11427533;11452016;11581164;11682626;11782450;11856838;11883935;11904305;12004059;12021324;12083769;12118000;12150994;12177166;12414730;12446674;12498683;12505311;12574128;12582161;12612073;12764144;12847090;12855699;12917425;12959972;1377680;14593115;14631847;14657019;14675539;14701755;14729966;14744793;15001666;15067378;15100235;15130092;15150273;15276198;15282324;15302935;15343269;15345050;1535687;15514030;15572696;15635043;15691849;15699330;15986123;16009131;16027160;16046058;16087863;16103198;16113099;16211008;16239144;16278212;1630819;16308568;16319104;16332679;16377629;16380219;16407261;16408927;16478997;16793922;16818630;16901896;16943418;16964243;16972786;16980581;16998888;17013392;17049555;17277772;17306213;1739980;17438144;17449569;17463000;17495528;17510434;17609267;17614351;17637753;17666587;17690249;17925399;17947532;18055455;18079403;18171990;18187655;18199680;18219272;18239466;18256232;18258854;1829677;18299279;18322535;18358809;18476782;18513490;18533032;18540824;18559965;18568018;18619531;18654640;18669648;18682402;18719978;18726356;18762174;18805503;18848529;19001364;19020303;19088433;19098913;19106100;19193796;19245816;19274700;19285002;19295514;19302979;19318349;19321454;19372209;19383337;19464346;19651622;19666599;19667075;1968462;19710929;19718048;19914168;19934321;20068231;20091743;20110263;20121949;20138239;20150555;20154085;20219941;20220130;20305658;20450493;20457598;20478047;20498280;20534573;20570965;20595680;20628156;20657584;20682797;20699577;20719759;20882567;20937905;20953893;21046154;21105874;21106759;21151129;2125285;21406692;21445275;21573489;21740066;21746878;21795679;21798247;2181374;21835891;21878914;21934649;21940756;22056668;22137580;22227038;22231121;22252320;22265404;22275372;22275377;22441827;22492511;22545144;22634312;22704330;23013401;23145106;23166507;23172872;23186163;23192763;23275004;23301498;23303788;23403292;23435229;23723241;23906331;23932780;24097444;24129563;24130169;24167369;24196956;24270878;24371278;24463449;24553187;24735615;24802710;24810778;24854081;24885040;24921206;24973012;24995865;24997600;24998469;25218447;25271362;25296600;25352121;25365482;25433557;25484640;25505266;25542856;25576301;25633194;25645385;25663755;25674852;25675981;25728767;26056233;26153859;26154972;26204489;26462610;26479350;26499076;26992070;27062924;27588483;27655845;27846572;27886276;28054006;28063628;28218747;28228285;28510447;28539435;28832583;28904123;2919170;29242379;29269046;29296180;29351928;29393594;29437277;2944599;29493099;29557506;29632046;29642003;29789417;30206221;30315122;30397120;30410026;30429286;3045126;30467960;30484775;30542730;30833945;31154438;31217245;31375868;3139301;31409900;3142690;31530632;31844290;31847126;31848261;31866443;31936902;31957176;32157095;32161166;32265295;32329246;32357974;32387766;32463580;32488085;32502341;32615164;3281094;32938616;32983136;33147444;3319186;33214551;33298915;33592498;33686291;33912179;33916908;33968037;34019948;34171305;34185709;34638625;3498214;35051231;35138101;35499042;35580925;36010968;36241641;36284347;36420658;3677090;37222488;38226157;38534334;38665916;38857058;38940327;39191354;39199378;39419019;39531497;40307207;40596516;41385373;7559524;7567999;7588608;7592727;7592729;7685352;7715707;7732023;7892212;7909540;7935485;7937828;8020941;8195246;8197458;8253082;8339931;8419924;8552081;8619637;8626466;8626488;8626793;8628262;8647822;8663599;8668525;8798690;8876171;8976377;9009278;9012850;9065444;9079710;9099716;9111324;9153193;9153304;9188510;9201922;9338790;9343410;9388265;9407024;9452489;9466902;9604010;9611253;9634533;9671459;9705341;9731700;9748239;9748295;9832505", "class_list": "", "function": "LINC01614 activated by SP1 promoted malignant behavior of triple-negative breast cancer cells via the WNT/b-Catenin signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; P4HA2 promotes tumor progression and is transcriptionally regulated by SP1 in colorectal cancer., [RefSeq, PubMed]; PSAT1 Promotes Metastasis via p-AKT/SP1/ITGA2 Axis in Estrogen Receptor-Negative Breast Cancer Cell. Publication Status: Online-Only, [RefSeq, PubMed]; SP1-mediated ADAMTS5 transcription promotes IL-1beta-induced chondrocyte injury via Wnt/beta-catenin pathway in osteoarthritis., [RefSeq, PubMed]; STRIP2 is regulated by the transcription factor Sp1 and promotes lung adenocarcinoma progression via activating the PI3K/AKT/mTOR/MYC signaling pathway., [RefSeq, PubMed]; The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]., [RefSeq]; Transcription factor that can activate or repress transcription in response to physiological and pathological stimuli. Binds with high affinity to GC-rich motifs and regulates the expression of a large number of genes involved in a variety of processes such as cell growth, apoptosis, differentiation and immune responses. Highly regulated by post-translational modifications (phosphorylations, sumoylation, proteolytic cleavage, glycosylation and acetylation). Also binds the PDGFR-alpha G-box promoter. May have a role in modulating the cellular response to DNA damage. Implicated in chromatin remodeling. Plays an essential role in the regulation of FE65 gene expression. In complex with ATF7IP, maintains telomerase activity in cancer cells by inducing TERT and TERC gene expression. Isoform 3 is a stronger activator of transcription than isoform 1. Positively regulates the transcription of the core clock component BMAL1 (PubMed:10391891, PubMed:11371615, PubMed:11904305, PubMed:14593115, PubMed:16377629, PubMed:16478997, PubMed:16943418, PubMed:17049555, PubMed:18171990, PubMed:18199680, PubMed:18239466, PubMed:18513490, PubMed:18619531, PubMed:19193796, PubMed:20091743, PubMed:21046154, PubMed:21798247). Plays a role in the recruitment of SMARCA4/BRG1 on the c-FOS promoter. Plays a role in protecting cells against oxidative stress following brain injury by regulating the expression of RNF112 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, 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": 6, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 30, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 30, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 30, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 43, "reported_mutagensis": 45, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 30, "binding_glycan_count": 0, "secondary_ac_list": "E4Z9M7;G5E9M8;Q86TN8;Q9H3Q5;Q9NR51;Q9NY21;Q9NYE7", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0017053 transcription repressor complex;GO:0000785 chromatin", "go_biological_process": "GO:1905564 positive regulation of vascular endothelial cell proliferation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression;GO:0032869 cellular response to insulin stimulus", "synthesized_glycan_count": 0, "hit_score": 47.3, "record_id": "P08047-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MQ03-1", "uniprot_id": "CRTP1_HUMAN", "mass": 15313.0, "length": 144, "protein_name": "Cysteine-rich tail protein 1", "gene_name": "CYSRT1", "organism": "Human", "refseq_name": "cysteine-rich tail protein 1", "refseq_ac": "NP_945352", "gene_names_uniprotkb": "CYSRT1; C9orf169", "gene_names_refseq": "C9orf169; CYSRT1", "protein_names_uniprotkb": "Cysteine-rich tail protein 1", "protein_names_refseq": "UPF0574 protein C9orf169; cysteine-rich tail protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:375791)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "17081983;32350084;36804407", "class_list": "", "function": "CYSRT1: An Antimicrobial Epidermal Protein that Can Interact with Late Cornified Envelope Proteins., [RefSeq, PubMed]; Component of the stratum corneum that may contribute to epidermal antimicrobial host defenses., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86UY7", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0001533 cornified envelope", "go_biological_process": "GO:0051702 biological process involved in interaction with symbiont;GO:0061436 establishment of skin barrier", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A8MQ03-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKT5-1", "uniprot_id": "FBX4_HUMAN", "mass": 44136.0, "length": 387, "protein_name": "F-box only protein 4", "gene_name": "FBXO4", "organism": "Human", "refseq_name": "F-box only protein 4 isoform 1", "refseq_ac": "NP_036308", "gene_names_uniprotkb": "FBXO4; FBX4", "gene_names_refseq": "FBX4; FBXO4", "protein_names_uniprotkb": "F-box only protein 4", "protein_names_refseq": "F-box only protein 4 isoform 1; F-box only protein 4; F-box protein Fbx4", "tax_id": 9606, "disease": "", "pathway": " (hsa:26272); (R-HSA-390471); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 4, "publication_count": 188, "publication_id_list": "10531035;10531037;10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12502735;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16275645;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17322306;17332328;17497243;17785452;17924679;18093314;18206966;18598945;18662542;18767875;18775313;18775504;18776931;18805092;18826954;18851830;18926707;19011634;19028597;19250909;19321346;19352404;19413330;19452197;19489725;19617556;19651622;19690332;19748355;19851334;19874575;19940261;20058876;20159592;20181953;21098288;21242966;21447816;21463634;21778237;21863050;21940857;21995946;22306028;22466964;22537386;2261476;22959436;23186163;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23747015;23912815;23986495;24076655;24275569;24366543;24636985;24715725;24756126;24793695;24793696;25314029;25342745;25349211;25355947;25418920;25467444;25531226;26154972;26344709;26460955;26632597;26906416;26929215;26992070;27030794;27222660;27565346;27846572;27920218;28115426;28218747;28228285;28832583;29142209;29153394;29242379;29393594;29437277;29557506;29632046;29632711;29769354;30315122;30379171;30429286;30610225;31530632;31844290;32005965;32161166;32265295;32284348;32502341;32938616;33141586;33444648;33691108;33717175;33936100;33968037;36241641;9380723;9668046;9790970;9819444;9887101;9891082", "class_list": "", "function": "Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:10531035, PubMed:18598945, PubMed:20181953, PubMed:29142209). Promotes ubiquitination of cyclin-D1 (CCND1) and its subsequent proteasomal degradation (PubMed:18598945). However, it does not act as a major regulator of CCND1 stability during the G1/S transition (By similarity). Recognizes TERF1 and promotes its ubiquitination together with UBE2D1 (PubMed:16275645, PubMed:20159592). Promotes ubiquitination of FXR1 following phosphorylation of FXR1 by GSK3B, leading to FXR1 degradation by the proteasome (PubMed:29142209)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "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": "Q68CU8;Q86VT8;Q9UK98", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:2000001 regulation of DNA damage checkpoint;GO:0000723 telomere maintenance;GO:0032212 positive regulation of telomere maintenance via telomerase;GO:0031647 regulation of protein stability;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 19.1, "record_id": "Q9UKT5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P67775-1", "uniprot_id": "PP2AA_HUMAN", "mass": 35594.0, "length": 309, "protein_name": "Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform", "gene_name": "PPP2CA", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform isoform 1", "refseq_ac": "NP_002706", "gene_names_uniprotkb": "PPP2CA", "gene_names_refseq": "HJS3; NEDLBA; PP2Ac; PP2CA; PP2Calpha; PPP2CA; RP-C", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform; 3.1.3.16; PP2A-alpha; RP-C; Replication protein C", "protein_names_refseq": "PP2A-alpha; protein phosphatase 2, catalytic subunit, alpha isozyme; replication protein C; serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform isoform 1", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); Parkinson's disease (Disease Ontology:DOID:14330); congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352); Houge-Janssens syndrome 3 (MONDO:MONDO:0032697)", "pathway": " (hsa:5515); (R-HSA-113501); (R-HSA-1295596); (R-HSA-141430); (R-HSA-141444); (R-HSA-163767); (R-HSA-180024); (R-HSA-195253); (R-HSA-196299); (R-HSA-198753); (R-HSA-202670); (R-HSA-2465910); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-2995383); (R-HSA-389356); (R-HSA-389513); (R-HSA-432142); (R-HSA-4641262); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5467337); (R-HSA-5467340); (R-HSA-5467348); (R-HSA-5663220); (R-HSA-5673000); (R-HSA-5675221); (R-HSA-6804757); (R-HSA-6811558); (R-HSA-68877); (R-HSA-69231); (R-HSA-69273); (R-HSA-9634600); (R-HSA-9648025); (R-HSA-975957); (R-HSA-9833482); (R-HSA-9860927)", "pathway_count": 40, "publication_count": 751, "publication_id_list": "10023660;10082513;10092233;10095107;10191253;10196136;10205168;10206983;10207050;10348343;10385618;10393926;10395539;10400669;10411507;10415025;10421629;10428961;10481074;10487827;10490027;10499802;10581160;10600115;10600384;10604473;10608892;10620360;10626894;10648614;10652300;10678165;10684251;10694513;10698523;10700176;10702794;10712905;10722742;10749138;10754332;10757792;10799894;10801873;10827953;10831586;10848580;10862053;10866685;10887178;10891492;10921899;10958683;10980695;10980696;11003670;11032757;11032810;11053437;11063929;11073976;11081627;11096080;11134010;11152499;11156368;11157749;11181178;11231573;11237011;11238103;11238451;11238463;11238927;11278865;11279012;11313932;11313968;11325826;11331269;11336703;11337501;11350938;11359766;11371342;11375957;11416152;11438540;11494123;11500375;11504915;11509732;11522655;11532962;11535616;11544179;11546874;11551508;11698404;11707456;11719808;11738041;11741534;11746989;11756411;11781817;11804586;11861647;11884610;11897663;11907280;11909525;11923872;11939789;11955436;11976720;11983168;11985496;11994459;11996003;12000790;12006501;12065642;12067995;12101426;12194817;12231563;12244094;12391162;12397061;12411508;12417715;12429848;12435635;12439748;12444543;12473674;12474228;12551923;12554650;12554878;12577064;12583813;12593795;12593796;12679384;12718880;12721358;12732141;12754270;12775720;12805219;12815057;12820959;12832468;12852857;12876557;12882984;12932319;12932339;1325671;1373135;1384126;1423597;14507994;14517297;14527413;14527418;14530258;14585331;14597415;14636577;14724641;14730319;14731402;14742663;14766746;14973490;15006353;15024056;15031289;15034551;15035987;15053880;15073180;15084453;15085137;15142525;15229216;15258589;15299030;15306667;15327769;15339662;1535557;15456846;15459198;15467451;15507212;15546618;15564375;15572030;15579463;15637081;15664191;15681612;15710605;15711535;15721257;15723797;15735151;15737063;15737233;15752359;15788536;15851477;15864301;15866170;15896703;15899852;15907845;15916963;15944396;16041367;16082208;16093354;1614537;16163388;16179258;16179259;16186820;16195327;16209946;16258073;16284618;16292343;16294014;16341016;16341017;16364920;16373505;16402859;16408927;16431927;16439214;16452507;16456541;16474402;16479008;16508002;16537381;16541025;16551244;16580887;16582612;16600570;16600872;16601204;16622419;16622420;16630891;16682347;16717090;16753179;16782892;16818765;16845383;16890161;16890222;16892053;16893902;16943183;1695551;16982605;17030981;17053788;17055435;17079286;17092340;17097642;17112726;17113138;17121812;17129783;17143292;1717476;17183061;17196341;17196820;17198702;17200115;17204608;17245430;17254966;17254967;17255109;17318175;17322878;17339487;17352659;17363904;1737036;17485487;17510365;17529994;17533373;17535922;17569865;17635907;17699597;17724343;17803942;17893241;17908796;17974561;17991896;17993263;18001770;18066079;18077588;18096616;18097444;18256688;18280240;18281465;1828290;1828392;1828393;1828394;18285455;18294816;18311776;18332145;18339531;18362152;1836978;18384749;18394995;18414028;18423202;1846293;1848668;18515281;18524595;18547165;18606139;18628300;18632848;18657639;18662992;18710949;18716626;18757411;18827403;18835251;18923426;18957415;18974281;19049963;19060897;19061640;19075005;19091743;19107203;19150429;19158341;19160488;19192479;19229320;19237556;19350017;19359157;19405949;19416861;19417104;19458076;19478851;19487459;19503078;19541618;19556969;19576174;19619488;19620630;19661920;19684605;19690147;19696148;19710021;19727074;19733181;19756449;19760609;19802005;19804757;19815554;19816404;19818709;19838063;19838211;19859661;19896182;19909264;19933846;19965387;20023408;20030946;20080667;20092282;20101212;20107323;20227366;20332238;20360007;20395957;20438709;20479275;20519500;20576617;20591975;20663872;20674547;20685959;20691628;20711181;20713061;20817927;20820846;20843055;20930030;20952511;21072047;21111234;21123651;21145460;21148482;21164013;21164014;21183070;21183076;21248786;21252990;21294215;21397845;21419344;21423214;21441104;21441910;21444715;21518807;21576392;21636578;21715330;21730132;21730163;21779496;21795390;21813648;21868368;21878504;21900495;21937648;21978664;21986495;21987589;21994559;22094460;22101459;22167190;22214662;22275430;22299660;22354989;22438566;2247437;22592532;22608513;22613722;22730326;22761442;22770216;22790947;22885700;22986343;23007395;23074275;23084476;23085078;23105109;23222643;23229543;23234702;23242214;23256519;23360980;23579495;23622515;23732991;23737759;23796501;23801653;23863182;23906342;23993095;24121489;24211266;24347309;24347342;24366607;24395787;24515438;24623135;24632852;24659800;24753571;24876129;24914801;24937142;25003389;25314968;25418920;25438055;25505266;2555176;25597358;25653431;25733683;25740311;25789526;25803737;25848059;25880248;25907612;25965804;26024233;26154972;26343583;26432638;26446704;26488609;26716879;26817845;26992070;27012437;27013170;27208315;27264673;27269119;27423063;27489114;27588481;27846572;27875273;27920218;27974558;27999210;28057023;28069888;28082416;28167698;28218747;28281686;28289718;2837207;2837763;28402257;28467828;2849764;28609714;28666118;28765891;28832583;28904123;28984291;29154753;29170442;29175459;29231267;29242379;29317506;29348664;29393594;29394925;29395325;29437277;29440070;29461827;29501855;29557506;30115741;30174290;30315122;30410026;30484775;30513302;3052289;30595372;30611118;30711375;30770398;31031002;31217245;31222486;31408443;31409757;31530632;31543423;31844290;32037480;32093270;32387766;32502341;32673515;32716602;32801355;32938616;32977471;33108758;33141586;33162896;33243860;33392160;33402344;33592498;33633399;33771996;33808629;33911136;33968037;33981976;34004147;34019948;34174402;34229054;34260926;34357683;34762484;34974812;35685460;35947956;36215666;36712380;36869814;37080207;37127961;37761890;38123684;38570683;38637456;38665916;39032490;39298813;6087160;6296685;6330098;6501302;7491766;7515177;7542586;7545299;7565688;7574501;7686617;7693978;7737117;7737357;7743995;7744815;7784084;7797074;7799941;7903669;7954814;7957050;8114739;8119945;8139570;8206937;8246996;8259518;8259519;8319905;8336704;8428596;8440392;8479525;8497257;8521512;8521513;8521514;8576172;8576179;8609386;8637718;8638126;8638161;8649453;8661426;8663227;8757136;8810342;8876196;8887688;8910500;8946678;8946910;8954786;9020159;9034327;9034343;9042862;9065402;9079663;9099992;9106657;9144196;9190208;9230313;9234708;9268380;9325318;9371714;9442054;9447971;9448290;9464277;9482734;9508775;9521856;9528799;9556553;9601641;9635432;9647778;9649308;9649503;9670027;9679058;9687506;9687510;9689060;9712716;9737981;9819388;9823899;9858547;9892021;9920888;9920933;9973466;9990852", "class_list": "", "function": "Catalytic subunit of protein phosphatase 2A (PP2A), a serine/threonine phosphatase involved in the regulation of a wide variety of enzymes, signal transduction pathways, and cellular events (PubMed:10801873, PubMed:12473674, PubMed:17245430, PubMed:22613722, PubMed:33243860, PubMed:34004147, PubMed:9920888). PP2A is the major phosphatase for microtubule-associated proteins (MAPs) (PubMed:22613722). PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase (PubMed:22613722). Cooperates with SGO2 to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I (By similarity). Can dephosphorylate various proteins, such as SV40 large T antigen, AXIN1, p53/TP53, PIM3, WEE1 (PubMed:10801873, PubMed:12473674, PubMed:17245430, PubMed:9920888). Activates RAF1 by dephosphorylating it at 'Ser-259' (PubMed:10801873). Mediates dephosphorylation of WEE1, preventing its ubiquitin-mediated proteolysis, increasing WEE1 protein levels, and promoting the G2/M checkpoint (PubMed:33108758). Mediates dephosphorylation of MYC; promoting its ubiquitin-mediated proteolysis: interaction with AMBRA1 enhances interaction between PPP2CA and MYC (PubMed:25438055). Mediates dephosphorylation of FOXO3; promoting its stabilization: interaction with AMBRA1 enhances interaction between PPP2CA and FOXO3 (PubMed:30513302). Catalyzes dephosphorylation of the pyrin domain of NLRP3, promoting assembly of the NLRP3 inflammasome (By similarity). Together with RACK1 adapter, mediates dephosphorylation of AKT1 at 'Ser-473', preventing AKT1 activation and AKT-mTOR signaling pathway (By similarity). Dephosphorylation of AKT1 is essential for regulatory T-cells (Treg) homeostasis and stability (By similarity). Catalyzes dephosphorylation of PIM3, promoting PIM3 ubiquitination and proteasomal degradation (PubMed:12473674). Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes (PubMed:33633399). STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling (PubMed:33633399). Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation (PubMed:33633399). Key mediator of a quality checkpoint during transcription elongation as part of the Integrator-PP2A (INTAC) complex (PubMed:33243860, PubMed:34004147, PubMed:37080207). The INTAC complex drives premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: within the INTAC complex, PPP2CA catalyzes dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, thereby preventing transcriptional elongation (PubMed:33243860, PubMed:34004147, PubMed:37080207)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Drug-resistant exosome miR-99b-3p induces macrophage polarization and confers chemoresistance on sensitive cells by targeting PPP2CA., [RefSeq, PubMed]; PPP2CA Inhibition Promotes Ferroptosis Sensitivity Through AMPK/SCD1 Pathway in Colorectal Cancer., [RefSeq, PubMed]; This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes an alpha isoform of the catalytic subunit. [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": 2, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P05323;P13197", "ec_number_list": "3.1.3.16;3.1.3.48;3.6.5.-;3.1.3.-;3.4.19.12;2.7.11.1;2.7.10.1;3.6.5.2;2.7.10.2;2.7.11.22;2.7.11.23;2.3.2.27;4.2.99.18;2.7.11.24;3.4.25.1;3.6.4.13;2.3.2.-;2.7.11.26;2.7.11.21;3.1.3.67;3.1.3.53;2.3.2.32;3.4.22.49;3.6.4.12;3.1.-.-;3.1.3.52;3.1.3.27;3.1.3.86;3.1.3.36;5.6.2.3;5.6.2.5;3.1.3.74;3.6.1.62;2.1.1.233;3.1.1.89", "go_molecular_function": "GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity;GO:0004722 protein serine/threonine phosphatase activity;GO:0048156 tau protein binding;GO:0004721 phosphoprotein phosphatase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0035330 regulation of hippo signaling;GO:1904539 negative regulation of glycolytic process through fructose-6-phosphate;GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0000278 mitotic cell cycle;GO:0010288 response to lead ion", "synthesized_glycan_count": 0, "hit_score": 75.4, "record_id": "P67775-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UFD9-1", "uniprot_id": "RIM3A_HUMAN", "mass": 180717.0, "length": 1639, "protein_name": "RIMS-binding protein 3A", "gene_name": "RIMBP3", "organism": "Human", "refseq_name": "RIMS-binding protein 3A", "refseq_ac": "NP_056487", "gene_names_uniprotkb": "RIMBP3; KIAA1666; RIMBP3A", "gene_names_refseq": "RIM-BP3.1; RIM-BP3.A; RIM-BP3; RIMBP3.1; RIMBP3A; RIMBP3", "protein_names_uniprotkb": "RIMS-binding protein 3A; RIM-BP3.1; RIM-BP3.A; RIMS-binding protein 3.1", "protein_names_refseq": "RIMS binding protein 3.1; RIMS-binding protein 3A", "tax_id": 9606, "disease": "", "pathway": " (hsa:85376)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11258795;26992070;29557506;31217245;31844290;32161166;32387766;33141586;33298915;33392160;33912179;33981976;34171305;34509645;35051231;35580925;35931115", "class_list": "", "function": "Homeodomain-interacting protein kinase HIPK4 regulates phosphorylation of manchette protein RIMBP3 during spermiogenesis., [RefSeq, PubMed]; 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": 19, "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": "Q8IYP7;Q9BY94;Q9UFQ5", "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": 1.8, "record_id": "Q9UFD9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P31948-1", "uniprot_id": "STIP1_HUMAN", "mass": 62639.0, "length": 543, "protein_name": "Stress-induced-phosphoprotein 1", "gene_name": "STIP1", "organism": "Human", "refseq_name": "stress-induced-phosphoprotein 1 isoform a", "refseq_ac": "NP_001269581", "gene_names_uniprotkb": "STIP1", "gene_names_refseq": "HEL-S-94n; HOP; IEF-SSP-3521; P60; STI1L; STI1; STIP1", "protein_names_uniprotkb": "Stress-induced-phosphoprotein 1; Hop; Hsc70/Hsp90-organizing protein; Renal carcinoma antigen NY-REN-11; STI1; Transformation-sensitive protein IEF SSP 3521", "protein_names_refseq": "Hsp70/Hsp90-organizing protein; NY-REN-11 antigen; epididymis secretory sperm binding protein Li 94n; hsc70/Hsp90-organizing protein; renal carcinoma antigen NY-REN-11; stress-induced-phosphoprotein 1 isoform a; transformation-sensitive protein IEF SSP 3521", "tax_id": 9606, "disease": "childhood-onset asthma (Disease Ontology:DOID:0080815)", "pathway": " (hsa:10963); (R-HSA-3371497); (R-HSA-9696273)", "pathway_count": 3, "publication_count": 193, "publication_id_list": "10.1101/2023.09.13.557529;10508479;10664463;10747884;10786835;11237011;11589254;11701661;11751894;11784792;11940653;12781197;12842009;1286667;13486053;14532270;14754904;1493716;15159550;15381148;15591061;15592455;1569099;15738000;16403413;17081983;17287340;17591767;17804755;18212344;18215318;18243712;18254226;18486612;18635947;18669648;18996843;19103606;19359544;19608861;19651622;20006655;20038533;20068231;20072699;20811643;21158691;21183720;21376746;21406692;21700222;21796517;22011577;22223895;22266222;22318716;22424782;22433123;22791416;23186163;23349634;23481700;24012426;24275569;24366607;24690281;24694367;24715725;24880080;25114211;25218447;25504578;25576301;25645385;25772364;25880248;26073023;26154972;26203193;26313416;26375851;26758079;26768311;26853435;26992070;27353360;27462449;27600516;27663436;27846572;27920218;28063628;28083797;28228285;28301631;28510447;28514659;28649982;28755533;28832583;28834231;28904123;28919297;29127155;29242379;29351928;29393594;29493099;29557506;29632046;29632711;30192525;30197098;30315122;30379171;30429286;30779550;30833945;31110491;31141847;31154438;31217245;31222486;31530632;31731497;31826031;31844290;31848261;31871319;32016915;32119511;32157095;32161166;32320027;32350084;32357974;32387766;32448030;32502341;32544881;32870666;32897882;32938616;32982970;32983136;33141586;33214551;33298915;33392160;33465208;33592498;33717175;33936100;33968037;33981976;34019948;34087483;34211107;34229054;34357683;34405274;34509645;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35561310;35580925;35626686;36010968;36215666;36241641;36284347;37442266;37806517;37938771;38492099;38665916;40596516;40914422;6645495;6891012;8157723;8282004;8560673;9195923;9464360;9464361;9531558;9667968", "class_list": "", "function": "Acts as a co-chaperone for HSP90AA1 (PubMed:27353360). Mediates the association of the molecular chaperones HSPA8/HSC70 and HSP90 (By similarity)., [UniProtKB, UniProtKB, PubMed]; LINC01226 promotes gastric cancer progression through enhancing cytoplasm-to-nucleus translocation of STIP1 and stabilizing beta-catenin protein., [RefSeq, PubMed]; Polymorphism in Genes Encoding Adaptor Proteins ST13 and STIP1 and the Risk of Ischemic Stroke: a Pilot Study., [RefSeq, PubMed]; STIP1 is an adaptor protein that coordinates the functions of HSP70 (see HSPA1A; MIM 140550) and HSP90 (see HSP90AA1; MIM 140571) in protein folding. It is thought to assist in the transfer of proteins from HSP70 to HSP90 by binding both HSP90 and substrate-bound HSP70. STIP1 also stimulates the ATPase activity of HSP70 and inhibits the ATPase activity of HSP90, suggesting that it regulates both the conformations and ATPase cycles of these chaperones (Song and Masison, 2005 [PubMed 16100115]).[supplied by OMIM, Jul 2009]., [RefSeq]; Tumor-promoting action of ubiquitin protease 43 in gastric cancer progression through deubiquitination and stabilization of stress-inducible phosphoprotein 1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DM70;F5H0T1;G3XAD8;Q3ZCU9;Q5TZU9", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0051879 Hsp90 protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0032991 protein-containing complex;GO:0101031 protein folding chaperone complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 20.0, "record_id": "P31948-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43281-1", "uniprot_id": "EFS_HUMAN", "mass": 58815.0, "length": 561, "protein_name": "Embryonal Fyn-associated substrate", "gene_name": "EFS", "organism": "Human", "refseq_name": "embryonal Fyn-associated substrate isoform 3", "refseq_ac": "NP_001264103", "gene_names_uniprotkb": "EFS; CASS3", "gene_names_refseq": "CAS3; CASS3; EFS1; EFS2; EFS; HEFS; SIN", "protein_names_uniprotkb": "Embryonal Fyn-associated substrate; Cas scaffolding protein family member 3; hEFS", "protein_names_refseq": "Cas scaffolding protein family member 3; embryonal Fyn-associated substrate isoform 3; signal transduction protein (SH3 containing)", "tax_id": 9606, "disease": "Crohn's disease (Disease Ontology:DOID:8778)", "pathway": " (hsa:10278)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "16959974;19664994;29786170;30429286;30652380;31844290;31848261;32157095;33592498;35051231;36010968;36581221;9349509", "class_list": "", "function": "Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May serve as an activator of SRC and a downstream effector. Interacts with the SH3 domain of FYN and with CRK, SRC, and YES (By similarity)., [UniProtKB]; The combined use of EFS, GPX2, and SPRR1A expression could distinguish favorable from poor clinical outcome among epithelial-like head and neck carcinoma subtypes., [RefSeq, PubMed]; The protein encoded by this gene is a member of the CAS (CRK-associated substrate) family of adaptor proteins which typically serve as scaffolds for the assembly of larger signaling complexes. These complexes form at the cell surface where integrin binding leads to the subsequent phosphorylation of a CAS protein. Additional binding of SRC family kinases leads to CAS hyperphosphorylation and the creation of binding sites for CRK and other proteins that cause actin cytoskeleton reorganization. This gene plays a role in integrin-mediated cell attachment, spreading, and migration and also plays a role in both normal and malignant cellular transformation. This broadly expressed gene has been shown to play a role in neurite outgrowth and its expression in the thymus and lymphocytes is important for T cell maturation and the development of immunological self-tolerance. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RAJ7;B4DJ56;E9PGU2;O43282", "ec_number_list": "", "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005925 focal adhesion", "go_biological_process": "GO:0007155 cell adhesion;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0016477 cell migration;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "O43281-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYQ4-1", "uniprot_id": "KRA92_HUMAN", "mass": 18287.0, "length": 174, "protein_name": "Keratin-associated protein 9-2", "gene_name": "KRTAP9-2", "organism": "Human", "refseq_name": "keratin-associated protein 9-2", "refseq_ac": "NP_114167", "gene_names_uniprotkb": "KRTAP9-2; KAP9.2; KRTAP9.2", "gene_names_refseq": "KAP9.2; KRTAP9-2; KRTAP9.2", "protein_names_uniprotkb": "Keratin-associated protein 9-2; Keratin-associated protein 9.2; Ultrahigh sulfur keratin-associated protein 9.2", "protein_names_refseq": "keratin-associated protein 9-2; ultrahigh sulfur keratin-associated protein 9.2", "tax_id": 9606, "disease": "", "pathway": " (hsa:83899); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "11279113;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]; This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q17RK8;Q2TB15;Q6ISF6", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9BYQ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99750-1", "uniprot_id": "MDFI_HUMAN", "mass": 25029.0, "length": 246, "protein_name": "MyoD family inhibitor", "gene_name": "MDFI", "organism": "Human", "refseq_name": "myoD family inhibitor isoform 2", "refseq_ac": "NP_001287734", "gene_names_uniprotkb": "MDFI", "gene_names_refseq": "I-MF; I-mfa; MDFI", "protein_names_uniprotkb": "MyoD family inhibitor; Myogenic repressor I-mf", "protein_names_refseq": "inhibitor of MyoD family a; myoD family inhibitor isoform 2; myogenic repressor I-mf", "tax_id": 9606, "disease": "", "pathway": " (hsa:4188)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;17289077;32457453;33899950;36241641;37590348;38375821;9250874", "class_list": "", "function": "Inhibits the transactivation activity of the Myod family of myogenic factors and represses myogenesis (By similarity). Acts by associating with Myod family members and retaining them in the cytoplasm by masking their nuclear localization signals (By similarity). Can also interfere with the DNA-binding activity of Myod family members (By similarity). Plays an important role in trophoblast and chondrogenic differentiation (By similarity). Regulates the transcriptional activity of TCF7L1/TCF3 by interacting directly with TCF7L1/TCF3 and preventing it from binding DNA (By similarity). Binds to the axin complex, resulting in an increase in the level of free beta-catenin (By similarity). Affects axin regulation of the WNT and JNK signaling pathways (By similarity). Regulates the activity of mechanosensitive Piezo channel (PubMed:37590348)., [UniProtKB]; MDFI promotes the proliferation and tolerance to chemotherapy of colorectal cancer cells by binding ITGB4/LAMB3 to activate the AKT signaling pathway., [RefSeq, PubMed]; Multifaceted array-based keloidal gene expression profiling reveals specific MDFI upregulation in keloid lesions., [RefSeq, PubMed]; Opposite Roles of the JMJD1A Interaction Partners MDFI and MDFIC in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [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": "", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0140416 transcription regulator inhibitor activity;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0032507 maintenance of protein location in cell;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045892 negative regulation of DNA-templated transcription;GO:0030111 regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q99750-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99962-1", "uniprot_id": "SH3G2_HUMAN", "mass": 39962.0, "length": 352, "protein_name": "Endophilin-A1", "gene_name": "SH3GL2", "organism": "Human", "refseq_name": "endophilin-A1", "refseq_ac": "NP_003017", "gene_names_uniprotkb": "SH3GL2; CNSA2; SH3D2A", "gene_names_refseq": "CNSA2; EEN-B1; SH3D2A; SH3GL2; SH3P4", "protein_names_uniprotkb": "Endophilin-A1; EEN-B1; Endophilin-1; SH3 domain protein 2A; SH3 domain-containing GRB2-like protein 2", "protein_names_refseq": "Endophilin A1 BAR domain; SH3 domain protein 2A; SH3 domain-containing GRB2-like protein 2; bA335L15.1 (SH3-domain GRB2-like 2); endophilin-1; endophilin-A1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6456); (R-HSA-177504); (R-HSA-182971); (R-HSA-2132295); (R-HSA-432720); (R-HSA-432722); (R-HSA-437239); (R-HSA-6807004); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8875360)", "pathway_count": 11, "publication_count": 360, "publication_id_list": "10036229;10064083;10072072;10097102;10394364;10436022;10436028;10480952;10514377;10531379;10535736;10540230;10542231;10559856;10559861;10559924;10567358;10593899;10608864;10613896;10625686;10631941;10631952;10639150;10652316;10747093;10748235;10766823;10769163;10804209;10809954;10818153;10953014;10983987;11071885;11076969;11081636;11082044;11139587;11157096;11231140;11239472;11247302;11333915;11454741;11470803;11516654;11517213;11529500;11532990;11577110;11588219;11590181;11604418;11684289;11694590;11741535;11790530;11813165;11823423;11853874;11877457;11877461;11889126;11894095;11894096;11919637;11927540;11988742;11994746;12057195;12072436;12078484;12082080;12086608;12198549;12213833;12218189;12221107;12234920;12234931;12244174;12429842;12447393;12451172;12464600;12475979;12551915;12593795;12593796;12686592;12717448;12742663;12748383;12847086;12942088;12944396;12952949;12958364;1317852;14505571;14555962;14581451;14617351;14622578;14622579;14662753;14726597;14731593;14985334;15021893;15102850;15117950;15123609;15134832;15252009;15260957;15318165;15339664;1535555;15465819;15473838;15475003;15502812;15502813;15649145;15671180;15701692;15703209;15728179;15749704;15802264;15828871;15895077;15911768;15916959;15962011;16103228;16113677;16155256;16159959;16164598;16181339;16215232;16227611;16242130;16326391;16330023;16407834;16410077;16459302;16460808;16516836;16618111;16707488;16723738;16763557;16798879;16824007;16867982;16880396;16903783;17018281;17035995;17081983;17116749;17142755;17158794;17178829;17267500;17283181;17350572;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17662939;17681954;17713526;17762867;17765681;17978091;18032517;18046453;18093523;18166656;18199683;18292509;18388313;18478542;1847920;18602463;18775314;18790740;18819912;18819921;18981233;19054389;19092055;19109251;19140243;19278660;19287005;19296720;19458185;19536138;19559397;1956401;19564404;19575674;19603039;19651769;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19814798;19853559;19900460;20033059;20059951;20211604;20230749;20231386;20351096;20428113;20448150;20708039;20826345;20946875;21102408;21116285;2115402;21187331;2121367;21278753;21316588;21376233;21441454;21445324;21482805;21499258;21613550;21620353;21779028;21841790;21883765;2190094;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;22998870;23208509;23285027;23297414;23536704;23823722;23861397;23891661;2391366;24130457;24186068;24384571;2448316;24581490;24680432;24746795;24778241;24789820;24828152;24966051;25107275;25263444;25303366;25341920;26042225;26403691;26829388;28891236;2890644;29557506;32367751;33968037;33981976;3417785;34561969;35051231;36215666;36827984;6146630;7481823;7493978;7541030;7542744;7569928;7592972;7650016;7657591;7667286;7822302;7877694;8046351;8134367;8145819;8148318;8313912;8374173;8397411;8415765;8524399;8552632;8553074;8621719;8642258;8670264;8687433;8837779;8849454;8909537;8939989;8947036;9075930;9092476;9100026;9169142;9169477;9202021;9303539;9311912;9312039;9427626;9428629;9497313;9539769;9545226;9606180;9635431;9651214;9721721;9723620;9733768;9736607;9812899", "class_list": "", "function": "A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing., [RefSeq, PubMed]; EndophilinA-dependent coupling between activity-induced calcium influx and synaptic autophagy is disrupted by a Parkinson-risk mutation., [RefSeq, PubMed]; Implicated in endocytosis. Involved ultrafast endocytosis, by mediating, in a first step, neck formation and in a second step, aids in the removal of clathrin coats from the regenerated vesicles. May recruit other proteins to membranes with high curvature. Required for BDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 to mediate BDNF-NTRK2 early endocytic trafficking and signaling from early endosomes., [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": 6, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R618;Q9NQK5", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0097749 membrane tubulation;GO:1990416 cellular response to brain-derived neurotrophic factor stimulus;GO:0007165 signal transduction;GO:0010629 negative regulation of gene expression;GO:0031175 neuron projection development", "synthesized_glycan_count": 0, "hit_score": 36.1, "record_id": "Q99962-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75604-1", "uniprot_id": "UBP2_HUMAN", "mass": 68072.0, "length": 605, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 2", "gene_name": "USP2", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 2 isoform c", "refseq_ac": "NP_001230688", "gene_names_uniprotkb": "USP2; UBP41", "gene_names_refseq": "UBP41; USP2; USP9", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 2; 3.4.19.12; 41 kDa ubiquitin-specific protease; Deubiquitinating enzyme 2; Ubiquitin thioesterase 2; Ubiquitin-specific-processing protease 2", "protein_names_refseq": "41 kDa ubiquitin-specific protease; deubiquitinating enzyme 2; ubiquitin carboxyl-terminal hydrolase 2 isoform c; ubiquitin carboxyl-terminal hydrolase 2; ubiquitin specific protease 12; ubiquitin specific protease 9; ubiquitin thioesterase 2; ubiquitin-specific-processing protease 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9099); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5689880); (R-HSA-6804757)", "pathway_count": 6, "publication_count": 192, "publication_id_list": "10444327;10521396;10608892;10722742;10837247;10980695;10980696;10982817;11098060;11181075;11237011;11359766;11427719;11504915;11566882;11577081;11923872;11983168;12167698;12566314;12709429;12721308;12887920;12917689;12917691;14507994;14661020;14716293;15024054;15053880;15258597;1535557;15788536;15870263;15916963;1614537;16163388;16214042;16260783;16282325;16402859;16474402;16603398;16682944;16829951;16829952;16845383;16901786;16905103;16953224;16964248;17121812;17290220;17314102;17443180;17702576;17873522;17980597;17981138;18172164;18178551;18467330;18632802;18636086;19015242;19135894;19188362;19278658;19289468;19363159;19398555;19416807;19424180;19756449;19816404;19838211;19874889;19910467;19917254;20005846;20096447;20185725;20219915;20228808;20304918;20368735;20385093;20403044;20438709;20501646;20713061;21235526;21239494;21362556;21408173;21571647;21596315;21659512;21730132;21730163;21849505;21962518;21986495;22024150;22029577;22085928;22128162;22179575;22216260;22297296;22435550;22848449;23159851;23313255;23395819;23481700;23486064;23746843;23824326;23825189;24056413;24098568;24246475;24260525;24323043;24493797;24726323;24726327;24896179;25197364;25305019;25418920;25565632;25576301;25578727;25880248;26344099;26900751;26992070;26997266;27307491;27458237;27545878;27552911;27591049;28411811;28506461;28904123;28920952;28920954;29393594;29632046;29642005;30146158;30361438;30420664;30988283;31154438;31366726;31511692;31844290;31848261;32157095;32265295;32320653;32357974;32387766;32488085;33469115;34162724;34363755;34876703;35051231;35332268;35384881;35504726;35941131;36567903;37727011;39894887;7531702;7578059;7667287;7686617;7784084;7957050;8319905;8479525;8887688;8954786;9049422;9065443", "class_list": "", "function": "Age-related genes USP2 and ARG2 are involved in the reduction of immune cell infiltration in elderly patients with rheumatoid arthritis., [RefSeq, PubMed]; Circadian clock output effector that regulates Ca(2+) absorption in the small intestine. Probably functions by regulating protein levels of the membrane scaffold protein NHERF4 in a rhythmic manner, and is therefore likely to control Ca(2+) membrane permeability mediated by the Ca(2+) channel TRPV6 in the intestine., [UniProtKB, UniProtKB]; High Ubiquitin-Specific Protease 2a Expression Level Predicts Poor Prognosis in Upper Tract Urothelial Carcinoma., [RefSeq, PubMed]; Hydrolase that deubiquitinates polyubiquitinated target proteins such as MDM2, MDM4 and CCND1 (PubMed:17290220, PubMed:19838211, PubMed:19917254). Isoform 1 and isoform 4 possess both ubiquitin-specific peptidase and isopeptidase activities (By similarity). Deubiquitinates MDM2 without reversing MDM2-mediated p53/TP53 ubiquitination and thus indirectly promotes p53/TP53 degradation and limits p53 activity (PubMed:17290220, PubMed:19838211). Has no deubiquitinase activity against p53/TP53 (PubMed:17290220). Prevents MDM2-mediated degradation of MDM4 (PubMed:17290220). Plays a role in the G1/S cell-cycle progression in normal and cancer cells (PubMed:19917254). Regulates the circadian clock by modulating its intrinsic circadian rhythm and its capacity to respond to external cues (By similarity). Associates with clock proteins and deubiquitinates core clock component PER1 but does not affect its overall stability (By similarity). Regulates the nucleocytoplasmic shuttling and nuclear retention of PER1 and its repressive role on the clock transcription factors CLOCK and BMAL1 (By similarity). Plays a role in the regulation of myogenic differentiation of embryonic muscle cells (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB]; Loss of deubiquitylase USP2 triggers development of glioblastoma via TGF-beta signaling., [RefSeq, PubMed]; Overexpression of Ubp41 is sufficient to elicit all features of apoptosis in human cells., [RefSeq, PubMed]; This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]., [RefSeq]; USP2 Inhibits Lung Cancer Pathogenesis by Reducing ARID2 Protein Degradation via Ubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin-Specific Protease 2 in the Ventromedial Hypothalamus Modifies Blood Glucose Levels by Controlling Sympathetic Nervous Activation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B0YJB8;E9PPM2;Q8IUM2;Q8IW04;Q96MB9;Q9BQ21", "ec_number_list": "2.7.11.10;2.7.11.1;2.7.11.25;3.4.19.12;2.3.2.-;2.3.2.27;2.3.2.31", "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0031625 ubiquitin protein ligase binding;GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0045931 positive regulation of mitotic cell cycle;GO:1901796 regulation of signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 19.5, "record_id": "O75604-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQ66-1", "uniprot_id": "KR412_HUMAN", "mass": 21407.0, "length": 201, "protein_name": "Keratin-associated protein 4-12", "gene_name": "KRTAP4-12", "organism": "Human", "refseq_name": "keratin-associated protein 4-12", "refseq_ac": "NP_114060", "gene_names_uniprotkb": "KRTAP4-12; KAP4.12; KRTAP4.12", "gene_names_refseq": "KAP4.12; KRTAP4-12; KRTAP4.12", "protein_names_uniprotkb": "Keratin-associated protein 4-12; Keratin-associated protein 4.12; Ultrahigh sulfur keratin-associated protein 4.12", "protein_names_refseq": "keratin-associated protein 4-12; keratin-associated protein 4.12; ultrahigh sulfur keratin-associated protein 4.12", "tax_id": 9606, "disease": "", "pathway": " (hsa:83755)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11279113;15955084", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]; This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A3KMC5;Q495I0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "GO:0042633 hair cycle", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9BQ66-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UIH9-1", "uniprot_id": "KLF15_HUMAN", "mass": 43992.0, "length": 416, "protein_name": "Krueppel-like factor 15", "gene_name": "KLF15", "organism": "Human", "refseq_name": "Krueppel-like factor 15", "refseq_ac": "NP_054798", "gene_names_uniprotkb": "KLF15; KKLF", "gene_names_refseq": "KKLF; KLF15", "protein_names_uniprotkb": "Krueppel-like factor 15; Kidney-enriched krueppel-like factor", "protein_names_refseq": "Krueppel-like factor 15; Kruppel like factor 15; kidney-enriched Kruppel-like factor; kidney-enriched krueppel-like factor", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); aortic aneurysm (Disease Ontology:DOID:3627)", "pathway": " (hsa:28999); (R-HSA-1368108)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10982849;11018023;11162494;11241162;12130638;12406875;12738229;14672706;15500444;15560782;15937668;15963234;16857194;17438289;18586263;18587630;19710929;20375365;20566642;22367544;22493483;23999430;25645385;29557506;29789417;2991279;31375868;31848261;35494241;36010968;37833977;38513352;38582447;38848952;39067323;7981125;8618898", "class_list": "", "function": "KLF15 alleviates oxidative stress and apoptosis of H/R-induced trophoblast cells to improve invasion and migration capacity via the activation of IGF1R., [RefSeq, PubMed]; KLF15 binds to multiple 9 bp consensus sites in the Rhodospin and IRBP promoters including the CRS-1 and G-rich repressor elements. An in vivo role for KLF15 in repressing photoreceptor-specific gene expression in the inner retina is hypothesized. Publication Status: Online-Only, [RefSeq, PubMed]; KLF15 maintains contractile phenotype of vascular smooth muscle cells and prevents thoracic aortic dissection by interacting with MRTFB., [RefSeq, PubMed]; KLF15-activated MARCH2 boosts cell proliferation and epithelial-mesenchymal transition and presents diagnostic significance for hepatocellular carcinoma., [RefSeq, PubMed]; Kruppel-like Factor 15 Suppresses Ferroptosis by Activating an NRF2/GPX4 Signal to Protect against Folic Acid-Induced Acute Kidney Injury. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of KLF15 impairs endometrial receptivity by inhibiting EMT in endometriosis. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; These studies identify KLF15 as part of a heretofore unrecognized pathway regulating the cardiac response to hemodynamic stress Erratum:[Proc Natl Acad Sci U S A. 2007 Aug 21;104(34):13851. Pinto, Yigal [corrected to Pinto, Yigal M]], [RefSeq, PubMed]; Transcriptional regulator that binds to the GA element of the CLCNKA promoter. Binds to the KCNIP2 promoter and regulates KCNIP2 circadian expression in the heart (By similarity). Is a repressor of CCN2 expression, involved in the control of cardiac fibrosis. It is also involved in the control of cardiac hypertrophy acting through the inhibition of MEF2A and GATA4 (By similarity). Involved in podocyte differentiation (By similarity). Inhibits MYOCD activity. Is a negative regulator of TP53 acetylation. Inhibits NF-kappa-B activation through repression of EP300-dependent RELA acetylation., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000976 transcription cis-regulatory region binding;GO: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:0016607 nuclear speck;GO:0000785 chromatin", "go_biological_process": "GO:0071635 negative regulation of transforming growth factor beta production;GO:1990859 cellular response to endothelin;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": 3.8, "record_id": "Q9UIH9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O76015-1", "uniprot_id": "KRT38_HUMAN", "mass": 50480.0, "length": 456, "protein_name": "Keratin, type I cuticular Ha8", "gene_name": "KRT38", "organism": "Human", "refseq_name": "keratin, type I cuticular Ha8", "refseq_ac": "NP_006762", "gene_names_uniprotkb": "KRT38; HHA8; HKA8; KRTHA8", "gene_names_refseq": "HA8; KRT38; KRTHA8; hHa8", "protein_names_uniprotkb": "Keratin, type I cuticular Ha8; Hair keratin, type I Ha8; K38; Keratin-38", "protein_names_refseq": "K38; hair keratin, type I Ha8; keratin 38, type I; keratin, hair, acidic, 8; keratin, type I cuticular Ha8", "tax_id": 9606, "disease": "", "pathway": " (hsa:8687); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 57, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15248378;15337775;15373777;15617563;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26390218;29393594;29786170;30397120;30524438;33968037;33981976;34211107;7543090;8824274;8999895;9395522;9468612;9565599;9756910", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2RRM5;Q6A164", "ec_number_list": "", "go_molecular_function": "GO:0005198 structural molecule activity;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0045095 keratin filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0045109 intermediate filament organization;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "O76015-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYR5-1", "uniprot_id": "KRA42_HUMAN", "mass": 14462.0, "length": 136, "protein_name": "Keratin-associated protein 4-2", "gene_name": "KRTAP4-2", "organism": "Human", "refseq_name": "keratin-associated protein 4-2", "refseq_ac": "NP_149051", "gene_names_uniprotkb": "KRTAP4-2; KAP4.2; KRTAP4.2", "gene_names_refseq": "KAP4.2; KRTAP4-2; KRTAP4.2", "protein_names_uniprotkb": "Keratin-associated protein 4-2; Keratin-associated protein 4.2; Ultrahigh sulfur keratin-associated protein 4.2", "protein_names_refseq": "keratin-associated protein 4-2; keratin-associated protein 4.2; ultrahigh sulfur keratin-associated protein 4.2", "tax_id": 9606, "disease": "", "pathway": " (hsa:85291); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "11279113;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB, UniProtKB, UniProtKB]; This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0JP64", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "GO:0042633 hair cycle", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9BYR5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43355-1", "uniprot_id": "MAGA1_HUMAN", "mass": 34342.0, "length": 309, "protein_name": "Melanoma-associated antigen 1", "gene_name": "MAGEA1", "organism": "Human", "refseq_name": "melanoma-associated antigen 1", "refseq_ac": "NP_004979", "gene_names_uniprotkb": "MAGEA1; MAGE1A; MAGE1", "gene_names_refseq": "CT1.1; MAGE1; MAGEA1", "protein_names_uniprotkb": "Melanoma-associated antigen 1; Antigen MZ2-E; CT1.1; Cancer/testis antigen 1.1; MAGE-1 antigen", "protein_names_refseq": "MAGE-1 antigen; cancer/testis antigen 1.1; cancer/testis antigen family 1, member 1; melanoma antigen MAGE-1; melanoma antigen family A 1; melanoma antigen family A, 1 (directs expression of antigen MZ2-E); melanoma antigen family A1; melanoma-associated antigen 1; melanoma-associated antigen MZ2-E", "tax_id": 9606, "disease": "", "pathway": " (hsa:4100)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "10854409;12124806;1402688;15059299;15104676;15316101;15336780;15537658;16534867;16959974;1840703;19177349;20068231;22869377;23481700;23776170;24715725;25576301;25645385;26154972;26768311;26992070;27022262;27600516;27869121;28228285;28555838;28855257;28904123;29393594;29557506;30559321;30569450;30988609;31222486;31497249;31640756;31844290;31848261;31937595;32157095;32161166;32314731;32387766;32488085;32582212;32938616;33141586;33298915;33592498;33691108;34035112;34211107;34290406;34413169;35051231;35874702;36010968;36211805;36215666;36241641;36589698;37161052;37280206;38285780;38509571;38740147;39394480;7643853;7927954;8037761;8113684;9366399", "class_list": "", "function": "Expression of MAGE A1 to MAGE A10 in the Forceps Biopsy and Bronchoalveolar Lavage Specimens from Patients with the Central Lung Tumor. Publication Status: Online-Only, [RefSeq, PubMed]; MAGE-A1 was found in several lung cancer patients, [RefSeq, PubMed]; May be involved in transcriptional regulation through interaction with SNW1 and recruiting histone deactelyase HDAC1. May inhibit notch intracellular domain (NICD) transactivation. May play a role in embryonal development and tumor transformation or aspects of tumor progression. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes., [UniProtKB, PubMed]; These data suggest that MAGE-A1 is a promising candidate marker for lung adenocarcinoma (LUAD) therapy and the MAGE-A1-specific CAR-T cell immunotherapy may be an effective strategy for the treatment of MAGE-A1-positive LUAD. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "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": "B2RC81;O00346", "ec_number_list": "", "go_molecular_function": "GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045746 negative regulation of Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P43355-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P36406-1", "uniprot_id": "TRI23_HUMAN", "mass": 64067.0, "length": 574, "protein_name": "E3 ubiquitin-protein ligase TRIM23", "gene_name": "TRIM23", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM23 isoform alpha", "refseq_ac": "NP_001647", "gene_names_uniprotkb": "TRIM23; ARD1; ARFD1; RNF46", "gene_names_refseq": "ARD1; ARFD1; RNF46; TRIM23", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM23; 2.3.2.27; ADP-ribosylation factor domain-containing protein 1; GTP-binding protein ARD-1; RING finger protein 46; RING-type E3 ubiquitin transferase TRIM23; Tripartite motif-containing protein 23", "protein_names_refseq": "ADP-ribosylation factor domain protein 1, 64kDa; ADP-ribosylation factor domain-containing protein 1; ARF domain protein 1; E3 ubiquitin-protein ligase TRIM23 isoform alpha; E3 ubiquitin-protein ligase TRIM23; GTP-binding protein ARD-1; RING finger protein 46; RING-type E3 ubiquitin transferase TRIM23; tripartite motif protein TRIM23; tripartite motif-containing protein 23", "tax_id": 9606, "disease": "", "pathway": " (hsa:373)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10748148;11237011;11331580;15684077;19176615;22869377;25576301;26992070;27600516;27846572;27862975;28228285;28681414;28832583;28834231;28871090;28904123;29242379;29493099;29508533;29557506;30429286;30524438;30779550;31154438;31189704;31530632;31844290;31848261;31998317;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33537174;33592498;33717175;33912179;33957127;33968037;33981976;34087483;34171305;34509645;34903664;35051231;35580925;36010968;36215666;36241641;38769438;40360474;8473324;9671726", "class_list": "", "function": "(Microbial infection) Mediates TRAF6 auto-ubiquitination in the presence of human cytomegalovirus protein UL144, resulting in the virally controlled activation of NF-kappa-B stimulation at early times of HCMV infection., [UniProtKB, PubMed]; E3 ubiquitin ligase that harbors GTPase activity encoded by the C-terminal ARF domain. Plays an essential role in autophagy activation during viral infection (PubMed:31189704, PubMed:40360474). Mechanistically, activates TANK-binding kinase 1/TBK1 by facilitating its dimerization and ability to phosphorylate the selective autophagy receptor SQSTM1 (PubMed:28871090, PubMed:31189704). In order to achieve this function, TRIM23 mediates 'Lys-27'-linked auto-ubiquitination of its ADP-ribosylation factor (ARF) domain to induce its GTPase activity and its recruitment to autophagosomes (PubMed:28871090). Catalyzes 'Lys-63'-linked polyubiquitination of HAX1 that triggers its liquid-liquid phase separation (LLPS) and contributes to P-bodies assembly induced by energy stress (PubMed:38769438)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Herpesvirus-mediated stabilization of ICP0 expression neutralizes restriction by TRIM23. Erratum:[Proc Natl Acad Sci U S A. 2022 Mar 29;119(13):e2202103119. doi: 10.1073/pnas.2202103119. PMID: 35320048], [RefSeq, PubMed]; Opposing roles of E3 ligases TRIM23 and TRIM21 in regulation of ion channel ANO1 protein levels., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene 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": 6, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BZY4;Q9BZY5", "ec_number_list": "", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0008047 enzyme activator activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0045087 innate immune response;GO:0010508 positive regulation of autophagy;GO:0016567 protein ubiquitination;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "P36406-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P46695-1", "uniprot_id": "IEX1_HUMAN", "mass": 16903.0, "length": 156, "protein_name": "Radiation-inducible immediate-early gene IEX-1", "gene_name": "IER3", "organism": "Human", "refseq_name": "radiation-inducible immediate-early gene IEX-1", "refseq_ac": "NP_003888", "gene_names_uniprotkb": "IER3; DIF2; IEX1; PRG1", "gene_names_refseq": "DIF-2; DIF2; GLY96; IER3; IEX-1L; IEX-1; IEX1; PRG1", "protein_names_uniprotkb": "Radiation-inducible immediate-early gene IEX-1; Differentiation-dependent gene 2 protein; Immediate early protein GLY96; Immediate early response 3 protein; PACAP-responsive gene 1 protein; Protein DIF-2; Protein PRG1", "protein_names_refseq": "PACAP-responsive gene 1 protein; anti-death protein; differentiation-dependent gene 2 protein; expressed in pancreatic carcinoma; gly96, mouse, homolog of; immediate early protein GLY96; immediate early response 3 protein; immediately early gene X-1; protein DIF-2; radiation-inducible immediate-early gene IEX-1", "tax_id": 9606, "disease": "T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0081312)", "pathway": " (hsa:8870); (R-HSA-6811558)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10.1074/mcp.M114.046862;11237011;12356731;1325671;16456541;17200115;18669648;19576174;22565310;25576301;25813380;26154972;27846572;27869121;27890615;27920218;30249226;30429286;30579899;31844290;32157095;32488085;32502341;32938616;32983136;33043033;33968037;33981976;34405274;34729939;35051231;35318648;35580925;36215666;36241641;8603392;8653710;9196025", "class_list": "", "function": "Analysis of consensus EGR-binding elements (EBEs) showed that the immediate early response 3 gene (IER3) is a novel transcriptional target gene of EGR2 as confirmed by the luciferase assay, electrophoretic mobility-shift assay (EMSA), chromatin immunoprecipitation (ChIP), and western blot analysis., [RefSeq, PubMed]; IER3 (IEX-1) dysregulation serves as a potential prognostic factor in acute myeloid leukemia patients., [RefSeq, PubMed]; May play a role in the ERK signaling pathway by inhibiting the dephosphorylation of ERK by phosphatase PP2A-PPP2R5C holoenzyme. Also acts as an ERK downstream effector mediating survival. As a member of the NUPR1/RELB/IER3 survival pathway, may provide pancreatic ductal adenocarcinoma with remarkable resistance to cell stress, such as starvation or gemcitabine treatment., [UniProtKB, PubMed, PubMed, PubMed]; Our findings suggest for the first time that the increased expression of IER3 protein may promote the aggressive progression of BCa. Importantly, IER3 may be a potential prognostic marker for BCa patients. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of GAS5 enhanced the sensitivity of cervical cancer cells to radiation treatment via up-regulating IER3 through miR-106b., [RefSeq, PubMed]; This gene functions in the protection of cells from Fas- or tumor necrosis factor type alpha-induced apoptosis. Partially degraded and unspliced transcripts are found after virus infection in vitro, but these transcripts are not found in vivo and do not generate a valid protein. [provided by RefSeq, Jul 2008]., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5SU30;Q92691;Q93044", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0006974 DNA damage response;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "P46695-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYQ2-1", "uniprot_id": "KRA94_HUMAN", "mass": 16378.0, "length": 154, "protein_name": "Keratin-associated protein 9-4", "gene_name": "KRTAP9-4", "organism": "Human", "refseq_name": "keratin-associated protein 9-4", "refseq_ac": "NP_149461", "gene_names_uniprotkb": "KRTAP9-4; KAP9.4; KRTAP9.4", "gene_names_refseq": "KAP9.4; KRTAP9-4; KRTAP9.4", "protein_names_uniprotkb": "Keratin-associated protein 9-4; Keratin-associated protein 9.4; Ultrahigh sulfur keratin-associated protein 9.4", "protein_names_refseq": "keratin-associated protein 9-4; keratin-associated protein 9.4; ultrahigh sulfur keratin-associated protein 9.4", "tax_id": 9606, "disease": "", "pathway": " (hsa:85280); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "11279113;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]; This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q0VAE3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9BYQ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5V3-1", "uniprot_id": "MAGD1_HUMAN", "mass": 86161.0, "length": 778, "protein_name": "Melanoma-associated antigen D1", "gene_name": "MAGED1", "organism": "Human", "refseq_name": "melanoma-associated antigen D1 isoform b", "refseq_ac": "NP_001005332", "gene_names_uniprotkb": "MAGED1; NRAGE; PP2250; PRO2292", "gene_names_refseq": "DLXIN-1; MAGED1; NRAGE", "protein_names_uniprotkb": "Melanoma-associated antigen D1; MAGE tumor antigen CCF; MAGE-D1 antigen; Neurotrophin receptor-interacting MAGE homolog", "protein_names_refseq": "MAGE tumor antigen CCF; MAGE-D1 antigen; melanoma antigen family D, 1; melanoma antigen family D1; melanoma-associated antigen D1 isoform b; melanoma-associated antigen D1; neurotrophin receptor-interacting MAGE homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:9500); (R-HSA-193648); (R-HSA-418889)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "10409427;10985348;11087672;11248093;11280991;11756498;12011067;12097334;14673001;15094062;15310786;15470142;15573119;15592455;16158190;18083107;20864041;23481700;23783831;24714562;24715725;25576301;25645385;26992070;27600516;27846572;27862975;28063628;28228285;28514659;28649982;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29632046;29786170;29789417;29930882;30192525;30315122;30379171;30429286;30484775;30508943;30779550;30833945;31154438;31217245;31222486;31291378;31844290;31848261;31916845;31998317;32157095;32350084;32488085;32502341;32938616;33592498;33633747;33717175;33936100;33968037;33981976;34087483;34171305;34290406;34725712;35051231;35318648;35561310;35580925;36010968;36284347;37938771;38665916;9520479;9796814", "class_list": "", "function": "Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Inhibits cell cycle progression, and facilitates NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Plays a role in the circadian rhythm regulation. May act as RORA co-regulator, modulating the expression of core clock genes such as BMAL1 and NFIL3, induced, or NR1D1, repressed., [UniProtKB, PubMed]; Knockdown of NRAGE Impairs Homologous Recombination Repair and Sensitizes Hepatoblastoma Cells to Ionizing Radiation., [RefSeq, PubMed]; NRAGE is significantly upregulated in patients with Hepatocellular Carcinoma. It could possibly be a novel diagnostic biomarker for HCC early detection., [RefSeq, PubMed]; This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 15, "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": "Q5VSH6;Q8IZ84;Q8WY92;Q9H352;Q9HBT4;Q9UF36", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0000785 chromatin;GO:0032991 protein-containing complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0050680 negative regulation of epithelial cell proliferation;GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis;GO:0042752 regulation of circadian rhythm", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9Y5V3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5B8-1", "uniprot_id": "NDK7_HUMAN", "mass": 42492.0, "length": 376, "protein_name": "Nucleoside diphosphate kinase 7", "gene_name": "NME7", "organism": "Human", "refseq_name": "nucleoside diphosphate kinase 7 isoform a", "refseq_ac": "NP_037462", "gene_names_uniprotkb": "NME7", "gene_names_refseq": "CFAP67; MN23H7; NDK 7; NDK7; NME7; nm23-H7", "protein_names_uniprotkb": "Nucleoside diphosphate kinase 7; 2.7.11.1; 3.1.11.-; NDK7; NDP kinase 7; Putative 3'-5'-DNA exonuclease NDK7; Serine protein kinase NME7; nm23-H7", "protein_names_refseq": "3'-5' exonuclease NME7; NDP kinase 7; NDP kinase homolog 7; cilia and flagella associated protein 67; non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase); nucleoside diphosphate kinase 7 isoform a; nucleoside diphosphate kinase homolog 7; putative 3'-5'-DNA exonuclease NDK7; serine protein kinase NME7", "tax_id": 9606, "disease": "hydrocephalus (Disease Ontology:DOID:10908)", "pathway": " (hsa:29922); (R-HSA-380270); (R-HSA-380320)", "pathway_count": 3, "publication_count": 53, "publication_id_list": "11237011;11956313;12221128;14654843;16313181;16462731;17363702;23921553;24807905;25880248;26154972;26375851;27600516;28218747;28649982;28832583;28904123;29393594;29437277;29493099;29557506;29786170;30833945;31154438;31222486;31844290;31848261;32157095;32265295;32350084;32488085;32897882;32938616;33298915;33912179;33968037;33981976;34171305;34357683;34764205;34932366;35051231;35580925;36010968;36191189;36284347;37258679;37938771;38538594;39824631;7769006;7790358;8838651", "class_list": "", "function": "Compared with wild-type betagamma nucleoside diphosphate kinase overexpression of Gbeta nucleoside diphosphate kinase suppressed basal cAMP formation up to 55%., [RefSeq, PubMed]; NME7 functions in the gamma-tubulin ring complex in a kinase-dependent manner to facilitate microtubule nucleation., [RefSeq, PubMed]; Possesses an intrinsic kinase activity (PubMed:24807905, PubMed:34764205). Phosphorylates GSK3B at 'Ser-9', leading to the activation of Wnt/beta-catenin signaling (PubMed:34764205). Additionally, exhibits a 3'-5'-DNA exonuclease activity that removes single nucleotides from the 3' terminus of single-stranded DNA substrates and digests overhanging mismatched 3' termini from double-stranded DNA substrates, possibly participating in DNA nucleolytic processing (PubMed:16313181). In vitro, does not seem to have nucleoside diphosphate kinase activity (PubMed:16313181, PubMed:24807905). Functional component of the gamma-tubulin ring complex, implicated in the regulation of its microtubule-nucleating activity in centrosomes, in a kinase activity-dependent manner (PubMed:24807905). May maintain primary cilium assembly and ciliary microtubule stability (PubMed:39824631). Part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, required for motile cilia beating (PubMed:36191189)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [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": 0, "reported_mutagensis": 6, "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": "A8K3T6;A8MY09;B3KSW9;Q5TGZ4", "ec_number_list": "3.6.5.-;2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;3.6.4.10;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0008296 3'-5'-DNA exonuclease activity;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:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005819 spindle", "go_biological_process": "GO:0010968 regulation of microtubule nucleation;GO:0030317 flagellated sperm motility;GO:0060271 cilium assembly;GO:0006308 DNA catabolic process;GO:0006183 GTP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9Y5B8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKT9-1", "uniprot_id": "IKZF3_HUMAN", "mass": 58023.0, "length": 509, "protein_name": "Zinc finger protein Aiolos", "gene_name": "IKZF3", "organism": "Human", "refseq_name": "zinc finger protein Aiolos isoform 7", "refseq_ac": "NP_001244337", "gene_names_uniprotkb": "IKZF3; ZNFN1A3", "gene_names_refseq": "AIOLOS; AIO; IKZF3; IMD84; ZNFN1A3", "protein_names_uniprotkb": "Zinc finger protein Aiolos; Ikaros family zinc finger protein 3", "protein_names_refseq": "zinc finger DNA binding protein Aiolos; zinc finger protein Aiolos isoform 7; zinc finger protein, subfamily 1A, 3 (Aiolos)", "tax_id": 9606, "disease": "small cell carcinoma (Disease Ontology:DOID:0050685); immunodeficiency 84 (Disease Ontology:DOID:0061054); childhood-onset asthma (Disease Ontology:DOID:0080815); atherosclerosis (Disease Ontology:DOID:1936); lung non-small cell carcinoma (Disease Ontology:DOID:3908); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:22806); (R-HSA-9940951)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10204490;10369681;10552935;10970879;10978333;11237011;11714801;11745366;17646674;18669648;20676092;21248752;22544926;23481700;24029068;24275569;24366607;24554700;24714562;25150861;25593309;26154972;26375851;26992070;27633282;27732854;27846572;27920218;28228285;28832583;28834231;28904123;29042441;29242379;29393594;29508533;29557506;29632711;29786170;30045876;30134174;30315122;30379171;31154438;31217245;31530632;31746185;31844290;31848261;32157095;32502341;32983136;33141586;33298915;33717175;33912179;34155405;34932366;35580925;36008597;36930079;37938771;38015619;38018448;38193570;40914422;7969165;9512513", "class_list": "", "function": "Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variations in IKZF3, LET7-a2, and CDKN2B-AS1: Exploring associations with metabolic syndrome susceptibility and clinical manifestations., [RefSeq, PubMed]; IKZF3 is a novel prognostic biomarker for head and neck squamous cell carcinoma: A study based on bioinformatics analysis., [RefSeq, PubMed]; IKZF3 polymorphisms contribute to the increased risk of acute lymphoblastic leukemia in children., [RefSeq, PubMed]; This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]., [RefSeq]; This work demonstrates that the cellular activities of Aiolos isoforms are dependent on combinations of various functional domains arising from the differential splicing of mRNA transcripts, [RefSeq, PubMed]; Transcription factor that plays an important role in the regulation of lymphocyte differentiation. Plays an essential role in regulation of B-cell differentiation, proliferation and maturation to an effector state. Involved in regulating BCL2 expression and controlling apoptosis in T-cells in an IL2-dependent manner., [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DVV5;Q69BL6;Q69BL7;Q69BL8;Q69BL9;Q69BM0;Q69BM1;Q69BM2;Q69BM3;Q69BM5;Q8N574;Q8WWQ9;Q8WWR0;Q8WWR1;Q8WWR2;Q8WWR3", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045577 regulation of B cell differentiation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030183 B cell differentiation;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q9UKT9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53FZ2-1", "uniprot_id": "ACSM3_HUMAN", "mass": 66153.0, "length": 586, "protein_name": "Acyl-coenzyme A synthetase ACSM3, mitochondrial", "gene_name": "ACSM3", "organism": "Human", "refseq_name": "acyl-coenzyme A synthetase ACSM3, mitochondrial isoform 1", "refseq_ac": "NP_005613", "gene_names_uniprotkb": "ACSM3; SAH", "gene_names_refseq": "ACSM3; SAH; SA", "protein_names_uniprotkb": "Acyl-coenzyme A synthetase ACSM3, mitochondrial; 6.2.1.17; 6.2.1.2; Acyl-CoA synthetase medium-chain family member 3; Butyrate--CoA ligase 3; Butyryl-coenzyme A synthetase 3; Middle-chain acyl-CoA synthetase 3; Propionate--CoA ligase; Protein SA homolog", "protein_names_refseq": "SA (rat hypertension-associated) homolog; SA hypertension-associated homolog; acyl-coenzyme A synthetase ACSM3, mitochondrial isoform 1; acyl-coenzyme A synthetase ACSM3, mitochondrial; butyrate--CoA ligase 3; butyryl-coenzyme A synthetase 3; middle-chain acyl-CoA synthetase 3; propionate--CoA ligase; protein SA homolog", "tax_id": 9606, "disease": "abdominal obesity-metabolic syndrome (Disease Ontology:DOID:0060611); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); IgA glomerulonephritis (Disease Ontology:DOID:2986); ulcerative colitis (Disease Ontology:DOID:8577); ocular hypertension (Disease Ontology:DOID:9282)", "pathway": " (hsa:6296); (R-HSA-77352)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10231530;11158418;11237011;11470804;11772874;13295225;13295248;17278971;17693683;18192838;27351777;28228285;28390038;29557506;32387766;33912179;34357683;35051231;35124784;3597357;36010968;37625834;7843754;7907320;8687463", "class_list": "", "function": "ACSM3 suppresses the pathogenesis of high-grade serous ovarian carcinoma via promoting AMPK activity., [RefSeq, PubMed]; Acyl-CoA Medium-Chain Synthetase-3 (ACSM3) Is Regulated by Insulin Like Growth Factor 2 mRNA Binding Protein 3 (IGF2BP3) and Inhibits Proliferation, Motility and Stem Cell Properties of Breast Invasive Carcinoma., [RefSeq, PubMed]; Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (PubMed:11772874). Capable of activating medium-chain fatty acids with a preference for isobutyrate among fatty acids with 2-6 carbon atoms (By similarity)., [UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our data provide evidence for a differential expression and regulation of the ACSM3 gene 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O60363;Q13732;Q15425;Q7KYM6;Q9BUA2", "ec_number_list": "6.2.1.3;6.2.1.2;6.2.1.15;6.2.1.25;6.2.1.17;6.2.1.1;6.2.1.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0004321 fatty-acyl-CoA synthase activity;GO:0015645 fatty acid ligase activity;GO:0018729 propionate CoA-transferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006637 acyl-CoA metabolic process;GO:0006633 fatty acid biosynthetic process;GO:0008217 regulation of blood pressure;GO:0042632 cholesterol homeostasis;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q53FZ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14738-1", "uniprot_id": "2A5D_HUMAN", "mass": 69992.0, "length": 602, "protein_name": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform", "gene_name": "PPP2R5D", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform isoform 4", "refseq_ac": "NP_001257405", "gene_names_uniprotkb": "PPP2R5D", "gene_names_refseq": "B56D; B56delta; HJS1; MRD35; PPP2R5D", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform; PP2A B subunit isoform B'-delta; PP2A B subunit isoform B56-delta; PP2A B subunit isoform PR61-delta; PP2A B subunit isoform R5-delta", "protein_names_refseq": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform isoform 4", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 35 (Disease Ontology:DOID:0070065)", "pathway": " (hsa:5528); (R-HSA-141430); (R-HSA-141444); (R-HSA-163767); (R-HSA-180024); (R-HSA-195253); (R-HSA-196299); (R-HSA-198753); (R-HSA-202670); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-389356); (R-HSA-389513); (R-HSA-432142); (R-HSA-4641262); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5467337); (R-HSA-5467340); (R-HSA-5467348); (R-HSA-5663220); (R-HSA-5673000); (R-HSA-5675221); (R-HSA-6811558); (R-HSA-68877); (R-HSA-9634600); (R-HSA-9648025)", "pathway_count": 30, "publication_count": 390, "publication_id_list": "10023660;10092233;10095107;10196136;10205168;10206983;10411507;10415025;10421629;10428961;10481074;10487827;10490027;10581160;10600384;10604473;10678165;10684251;10694513;10698523;10700176;10702794;10712905;10749138;10754332;10757792;10799894;10862053;10891492;10921899;10958683;11032810;11081627;11181178;11237011;11325826;11336703;11371342;11375957;11494123;11509732;11522655;11535616;11707456;11738041;11741534;11746989;11756411;11804586;11861647;11955436;11976720;11994459;12000790;12006501;12065642;12067995;12101426;12194817;12244094;12429848;12439748;12474228;12551923;12554650;12577064;12583813;12679384;12721358;12732141;12775720;12805219;12820959;12852857;12876557;12932319;12932339;1325671;14530258;14724641;14730319;14731402;15006353;15035987;15073180;15084453;15085137;15142525;15258589;15306667;15327769;15339662;15459198;15467451;15507212;15664191;15681612;15710605;15711535;15723797;15735151;15737063;15851477;15864301;15866170;15896703;15899852;15944396;16041367;16082208;16093354;16292343;16294014;16341016;16341017;16364920;16439214;16456541;16508002;16537381;16541025;16551244;16565220;16622419;16622420;16630891;16682347;16753179;16818765;16890161;16890222;16892053;16943183;17030981;17081983;17097642;17112726;17113138;17129783;17143292;17183061;17196341;17198702;17200115;17204608;17301223;17318175;17322306;17322878;17339487;1737036;17510365;17525332;17529994;17535922;17569865;17724343;18001770;18077588;18097444;18281465;18294816;18311776;18332145;18339531;18362152;18515281;18547165;18606139;18632848;18662992;18669648;18716626;18757411;18767875;18923426;19049963;19054851;19061640;19091743;19107203;19158341;19237556;19350017;19405949;19541618;19576174;19619488;19651622;19684605;19696148;19727074;19760609;19802005;19815554;19933846;19965387;20030946;20068231;20101212;20227366;20332238;20591975;20674547;20820846;21111234;21148482;21183070;21183076;21248786;21252990;21397845;21406692;21441104;21441910;21576392;21779496;21868368;21878504;21987589;22094460;22101459;22275430;22438566;22592532;22608513;22730326;22761442;22790947;22885700;22976297;23074275;23105109;23186163;23222643;23256519;23301498;23360980;23579495;23801653;23863182;23906342;23993095;24121489;24211266;24347342;24366607;24715725;24914801;24937142;25314968;25533962;25576301;25597358;25740311;25789526;25907612;25965804;25972378;26168268;26343583;26811146;26992070;27264673;27600516;27846572;27920218;27999210;28063628;28082416;28228285;28289718;2837207;28514659;28666118;28832583;28834231;28855257;28904123;28984291;29242379;29331515;29371260;29393594;29461827;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;3052289;31020640;31217245;31409757;31530632;31844290;31998317;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34211107;34260926;34357683;34509645;34561969;34932366;35051231;35132862;35154160;35251023;35318648;35561310;35580925;35836293;36010968;36216457;36241641;36403339;37217939;37761890;38665916;39894887;40596516;40914422;6087160;6296685;6330098;6501302;7542586;7574501;7744815;8259518;8259519;8521512;8521513;8521514;8566219;8609386;8637718;8638126;8638161;8649453;8663227;8703017;8757136;8876196;8946678;8946910;9020159;9034327;9065402;9099992;9180267;9230313;9234708;9371714;9464277;9482734;9556553;9601641;9635432;9649308;9649503;9687510;9689060;9712716;9823899;9858547;9892021;9973466;9990852", "class_list": "", "function": "A novel nonsense mutation in PPP2R5D is associated with neurodevelopmental disorders and shows incomplete penetrance in a Chinese pedigree., [RefSeq, PubMed]; Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis., [RefSeq, PubMed]; PPP2R5D promotes hepatitis C virus infection by binding to viral NS5B and enhancing viral RNA replication. Publication Status: Online-Only, [RefSeq, PubMed]; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment., [UniProtKB, UniProtKB]; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment., [UniProtKB]; The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K3I9;B5BUA6;O00494;O00696;Q15171;Q5TC39", "ec_number_list": "", "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0072542 protein phosphatase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000159 protein phosphatase type 2A complex", "go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0051177 meiotic sister chromatid cohesion", "synthesized_glycan_count": 0, "hit_score": 39.3, "record_id": "Q14738-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BTW9-1", "uniprot_id": "TBCD_HUMAN", "mass": 132600.0, "length": 1192, "protein_name": "Tubulin-specific chaperone D", "gene_name": "TBCD", "organism": "Human", "refseq_name": "tubulin-specific chaperone D isoform 1", "refseq_ac": "NP_005984", "gene_names_uniprotkb": "TBCD; KIAA0988; PP1096; SSD1; TFCD", "gene_names_refseq": "PEBAT; SSD-1; TBCD; tfcD", "protein_names_uniprotkb": "Tubulin-specific chaperone D; Beta-tubulin cofactor D; SSD-1; Tubulin-folding cofactor D; tfcD", "protein_names_refseq": "beta-tubulin cofactor D; tubulin-specific chaperone D isoform 1; tubulin-specific chaperone d", "tax_id": 9606, "disease": "early onset progressive encephalopathy with brain atrophy and thin corpus callosum (Disease Ontology:DOID:0070423)", "pathway": " (hsa:6904); (R-HSA-389977)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "10722852;10831612;11110777;11237011;11847227;15498874;18491316;20068231;20740604;23301498;23481700;24714562;24715725;25418920;25576301;26154972;26375851;26728094;26811146;26992070;27397612;27666370;27666374;27807845;27846572;27862975;28158450;28228285;28467828;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769041;29786170;29921875;30315122;30429286;31154438;31217245;31492838;31844290;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35251023;35580925;36010968;36241641;36284347;37394437;37938771;38665916;40914422;9265649", "class_list": "", "function": "Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]., [RefSeq]; Study identified a homozygous novel pathogenic missense mutation (c.1423G > A;p.Ala475Thr) in TBCD gene to be associated with concurrent hypofibrinogenemia and cortical atrophy. Publication Status: Online-Only, [RefSeq, PubMed]; Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Acts as a GTPase-activating protein (GAP) for ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions disassembly at the lateral cell membrane (PubMed:10722852, PubMed:10831612, PubMed:11847227, PubMed:20740604, PubMed:27666370, PubMed:28158450). Required for correct assembly and maintenance of the mitotic spindle, and proper progression of mitosis (PubMed:27666370). Involved in neuron morphogenesis (PubMed:27666374)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; We present a detailed description of the neuropathology and MR imaging characteristics of a subset of these patients, adding insight into the phenotype of TBCD-related encephalopathy. The finding of a Faroese founder variant will allow targeted genetic diagnostics in patients of Faroese descent as well as improved genetic counseling and testing of at-risk couples., [RefSeq, PubMed]; [MOH SCREENING FOR TBCD IN COCHIN JEWS: COLLABORATION BETWEEN MEDICAL, RESEARCH AND COMMUNITY MEMBERS IN ACHIEVING PUBLIC HEALTH GOALS]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 25, "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": "O95458;Q7L8K1;Q8IXP6;Q8NAX0;Q8WYH4;Q96E74;Q9UF82;Q9UG46;Q9Y2J3", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0051087 protein-folding chaperone binding;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005874 microtubule;GO:0005912 adherens junction;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0006457 protein folding;GO:0070830 bicellular tight junction assembly;GO:0000226 microtubule cytoskeleton organization;GO:0010812 negative regulation of cell-substrate adhesion", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q9BTW9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13362-1", "uniprot_id": "2A5G_HUMAN", "mass": 61061.0, "length": 524, "protein_name": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform", "gene_name": "PPP2R5C", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform e", "refseq_ac": "NP_001155197", "gene_names_uniprotkb": "PPP2R5C; KIAA0044", "gene_names_refseq": "B56G; B56gamma; HJS4; PPP2R5C; PR61G", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform; PP2A B subunit isoform B'-gamma; PP2A B subunit isoform B56-gamma; PP2A B subunit isoform PR61-gamma; PP2A B subunit isoform R5-gamma; Renal carcinoma antigen NY-REN-29", "protein_names_refseq": "B' alpha regulatory subunit; protein phosphatase 2 regulatory subunit B', gamma; renal carcinoma antigen NY-REN-29; serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform isoform e", "tax_id": 9606, "disease": "Houge-Janssens syndrome 4 (MONDO:MONDO:0978293)", "pathway": " (hsa:5527); (R-HSA-141430); (R-HSA-141444); (R-HSA-195253); (R-HSA-196299); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-389356); (R-HSA-389513); (R-HSA-432142); (R-HSA-4641262); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5467337); (R-HSA-5467340); (R-HSA-5467348); (R-HSA-5663220); (R-HSA-5673000); (R-HSA-5675221); (R-HSA-6804757); (R-HSA-6811558); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 26, "publication_count": 391, "publication_id_list": "10023660;10092233;10196136;10205168;10206983;10411507;10415025;10421629;10428961;10481074;10487827;10490027;10508479;10581160;10600384;10608892;10678165;10684251;10694513;10698523;10700176;10702794;10712905;10722742;10749138;10754332;10757792;10799894;10862053;10891492;10921899;10958683;10980695;10980696;11032810;11081627;11181178;11237011;11325826;11336703;11359766;11371342;11375957;11494123;11504915;11509732;11522655;11535616;11707456;11738041;11741534;11746989;11756411;11804586;11861647;11923872;11955436;11976720;11983168;11994459;12000790;12006501;12067995;12101426;12194817;12244094;12429848;12439748;12474228;12551923;12554650;12577064;12583813;12679384;12732141;12775720;12805219;12820959;12852857;12876557;12932319;12932339;1325671;14507994;14530258;14724641;14730319;14731402;15006353;15035987;15053880;15073180;15084453;15085137;15142525;15258589;15306667;15327769;15339662;1535557;15459198;15467451;15507212;15664191;15681612;15710605;15711535;15723797;15735151;15737063;15788536;15851477;15864301;15866170;15899852;15916963;15944396;16041367;16082208;16093354;1614537;16163388;16292343;16294014;16341016;16341017;16364920;16402859;16439214;16456541;16474402;16508002;16537381;16541025;16551244;16580887;16622419;16622420;16630891;16682347;16753179;16818765;16845383;16890161;16890222;16892053;16943183;17030981;17086192;17097642;17112726;17113138;17121812;17129783;17143292;17174897;17183061;17196341;17198702;17200115;17204608;17245430;17318175;17339487;1737036;17510365;17529994;17569865;17724343;17967874;18001770;18077588;18097444;18281465;18294816;18311776;18332145;18339531;18362152;18515281;18547165;18606139;18618707;18632848;18662992;18716626;18757411;18923426;19049963;19054851;19061640;19091743;19107203;19158341;19237556;19350017;19405949;19541618;19576174;19619488;19684605;19696148;19716788;19727074;19756449;19760609;19802005;19815554;19816404;19838211;19933846;19965387;20030946;20101212;20227366;20332238;20438709;20591975;20674547;20713061;20820846;21111234;21148482;21183070;21183076;21248786;21252990;21397845;21441104;21441910;21576392;21730132;21730163;21779496;21868368;21878504;21986495;21987589;22094460;22101459;22275430;22438566;22592532;22608513;22730326;22761442;22790947;22885700;23074275;23105109;23222643;23256519;23360980;23579495;23801653;23863182;23906342;23993095;24121489;24211266;24347342;24715725;24914801;24937142;25314968;25597358;25740311;25789526;25907612;25965804;25972378;26154972;26343583;26992070;27264673;27543614;27846572;27862975;27920218;27999210;28063628;28082416;28174209;28218747;28228285;28289718;28510447;28514659;28666118;28832583;28834231;28904123;28984291;29242379;29331515;29393594;29437277;29461827;29493099;29557506;29632046;30315122;30410026;30779550;30833945;31154438;31217245;31409757;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34185709;34260926;34509645;35051231;35580925;36010968;36171301;36241641;36284347;37270460;37938771;39978342;40914422;7542586;7592815;7686617;7744815;7784084;7957050;8259518;8259519;8319905;8479525;8521512;8521513;8521514;8609386;8617797;8637718;8638126;8638161;8649453;8694763;8703017;8757136;8876196;8887688;8946678;8946910;8954786;9020159;9034327;9065402;9230313;9234708;9482734;9556553;9601641;9635432;9649308;9649503;9689060;9712716;9823899;9858547;9892021;9973466;9990852", "class_list": "", "function": "A functional interaction between liprin-alpha1 and B56gamma regulatory subunit of protein phosphatase 2A supports tumor cell motility. Publication Status: Online-Only, [RefSeq, PubMed]; Combined detection of SDC2/ADHFE1/PPP2R5C methylation in stool DNA for colorectal cancer screening., [RefSeq, PubMed]; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment., [UniProtKB, UniProtKB]; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment. The PP2A-PPP2R5C holoenzyme may specifically dephosphorylate and activate TP53 and play a role in DNA damage-induced inhibition of cell proliferation. PP2A-PPP2R5C may also regulate the ERK signaling pathway through ERK dephosphorylation., [UniProtKB, PubMed, PubMed]; The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DYJ8;B5BUA5;F5GWP3;Q14391;Q15060;Q15174;Q6ZN33", "ec_number_list": "", "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0072542 protein phosphatase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000159 protein phosphatase type 2A complex;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0007165 signal transduction;GO:0008285 negative regulation of cell population proliferation;GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0030330 DNA damage response, signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 39.4, "record_id": "Q13362-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96ED9-1", "uniprot_id": "HOOK2_HUMAN", "mass": 83207.0, "length": 719, "protein_name": "Protein Hook homolog 2", "gene_name": "HOOK2", "organism": "Human", "refseq_name": "protein Hook homolog 2 isoform 2", "refseq_ac": "NP_001093646", "gene_names_uniprotkb": "HOOK2", "gene_names_refseq": "HK2; HOOK2", "protein_names_uniprotkb": "Protein Hook homolog 2; h-hook2; hHK2", "protein_names_refseq": "h-hook2; hHK2; hook homolog 2; protein Hook homolog 2 isoform 2; protein Hook homolog 2", "tax_id": 9606, "disease": "Emery-Dreifuss muscular dystrophy (Disease Ontology:DOID:11726)", "pathway": " (hsa:29911)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;11238449;17140400;17540036;18669648;18691976;18799622;19273536;23186163;23481700;24275569;24715725;25576301;27920218;28855257;29393594;29557506;30379171;30779550;31154438;31844290;32073997;32157095;32387766;32397755;32938616;33592498;33912179;33968037;33981976;34087483;34171305;34509645;34561969;35318648;35580925;36284347;37217939;9927460", "class_list": "", "function": "Coding Variants in HOOK2 and GTPBP3 May Contribute to Risk of Primary Angle Closure Glaucoma, [RefSeq, PubMed]; Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Contributes to the establishment and maintenance of centrosome function. May function in the positioning or formation of aggresomes, which are pericentriolar accumulations of misfolded proteins, proteasomes and chaperones. FHF complex promotes the distribution of AP-4 complex to the perinuclear area of the cell (PubMed:32073997)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]., [RefSeq]; Hook2 contributes to the establishment and maintenance of the pericentrosomal localization of aggresomes by promoting the microtubule-based delivery of protein aggregates to pericentriolar aggresomes. 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": 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": "O60562", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0051959 dynein light intermediate chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0070695 FHF complex", "go_biological_process": "GO:0098840 protein transport along microtubule;GO:0006897 endocytosis;GO:0007032 endosome organization;GO:0007040 lysosome organization;GO:0008333 endosome to lysosome transport", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q96ED9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NUN7-1", "uniprot_id": "ACER3_HUMAN", "mass": 31552.0, "length": 267, "protein_name": "Alkaline ceramidase 3", "gene_name": "ACER3", "organism": "Human", "refseq_name": "alkaline ceramidase 3 isoform a", "refseq_ac": "NP_060837", "gene_names_uniprotkb": "ACER3; APHC; PHCA", "gene_names_refseq": "ACER3; APHC; PHCA; PLDECO", "protein_names_uniprotkb": "Alkaline ceramidase 3; 3.5.1.-; 3.5.1.23; AlkCDase 3; Alkaline CDase 3; Alkaline dihydroceramidase SB89; Alkaline phytoceramidase; aPHC", "protein_names_refseq": "alkCDase 3; alkaline CDase 3; alkaline ceramidase 3 isoform a; alkaline dihydroceramidase SB89; alkaline phytoceramidase; phytoceramidase, alkaline", "tax_id": 9606, "disease": "early childhood-onset progressive leukodystrophy (Disease Ontology:DOID:0070744); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); leukodystrophy (Disease Ontology:DOID:10579); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:55331); (R-HSA-9845614)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "11018465;11237011;11356846;12411432;12815058;16782891;16940153;17379599;17382292;17713573;18452278;18558101;18619555;19834535;19913121;20068046;20089856;20207939;20699116;23721920;25286108;25880248;26792856;27126290;28904123;29229990;29557506;30090628;30575723;30635364;32157095;32357974;32387766;32938616;33912179;33968037;34281620;34509645;34817752;35034572;36010968;36048828;9705349", "class_list": "glycogene", "function": "ACER3 catalyzes the hydrolysis of unsaturated long chain ceramides and dihydroceramides and coordinates with ACER2 to regulate cell proliferation and survival, [RefSeq, PubMed]; ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants. Publication Status: Online-Only, [RefSeq, PubMed]; Alkaline ceramidase catalyzes the hydrolysis of ceramides via a catalytic mechanism shared by Zn2+-dependent amidases. Publication Status: Online-Only, [RefSeq, PubMed]; Circular RNA circ_0001955 promotes hepatocellular carcinoma tumorigenesis by up-regulating alkaline ceramidase 3 expression through microRNA-655-3p., [RefSeq, PubMed]; Endoplasmic reticulum and Golgi ceramidase that catalyzes the hydrolysis of unsaturated long-chain C18:1-, C20:1- and C20:4-ceramides, dihydroceramides and phytoceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH (PubMed:11356846, PubMed:20068046, PubMed:20207939, PubMed:26792856, PubMed:30575723). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:20068046). Controls the generation of sphingosine in erythrocytes, and thereby sphingosine-1-phosphate in plasma (PubMed:20207939). Through the regulation of ceramides and sphingosine-1-phosphate homeostasis in the brain may play a role in neurons survival and function (By similarity). By regulating the levels of pro-inflammatory ceramides in immune cells and tissues, may modulate the inflammatory response (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; LINC01087 indicates a poor prognosis of glioma patients with preoperative MRI., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 259, "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": "B2RC99", "ec_number_list": "3.5.1.23;3.5.1.60;3.5.1.-;3.5.1.109", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0017040 N-acylsphingosine amidohydrolase activity;GO:0005509 calcium ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0008284 positive regulation of cell population proliferation;GO:0042552 myelination;GO:0046512 sphingosine biosynthetic process;GO:0046514 ceramide catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9NUN7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13315-1", "uniprot_id": "ATM_HUMAN", "mass": 350687.0, "length": 3056, "protein_name": "Serine-protein kinase ATM", "gene_name": "ATM", "organism": "Human", "refseq_name": "serine-protein kinase ATM isoform a", "refseq_ac": "NP_000042", "gene_names_uniprotkb": "ATM", "gene_names_refseq": "AT1; ATA; ATC; ATDC; ATD; ATE; ATM; TEL1; TELO1", "protein_names_uniprotkb": "Serine-protein kinase ATM; 2.7.11.1; A-T mutated; Ataxia telangiectasia mutated", "protein_names_refseq": "A-T mutated; AT mutated; TEL1, telomere maintenance 1, homolog; ataxia telangiectasia mutated; serine-protein kinase ATM isoform a; serine-protein kinase ATM; serine/threonine kinase ATM", "tax_id": 9606, "disease": "female breast cancer (Disease Ontology:DOID:0050671); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); lymphoma (Disease Ontology:DOID:0060058); pre-malignant neoplasm (Disease Ontology:DOID:0060071); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); leukemia (Disease Ontology:DOID:1240); ataxia telangiectasia (Disease Ontology:DOID:12704); endometrial cancer (Disease Ontology:DOID:1380); Parkinson's disease (Disease Ontology:DOID:14330); disease of cellular proliferation (Disease Ontology:DOID:14566); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); breast carcinoma (Disease Ontology:DOID:3459); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); papillary thyroid carcinoma (Disease Ontology:DOID:3969); infertility (Disease Ontology:DOID:5223); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); lung small cell carcinoma (Disease Ontology:DOID:5409); prostate carcinoma in situ (Disease Ontology:DOID:8634); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); oral mucosa leukoplakia (Disease Ontology:DOID:9655); senile cataract (Disease Ontology:DOID:9669)", "pathway": " (hsa:472); (R-HSA-2559586); (R-HSA-3371453); (R-HSA-349425); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693548); (R-HSA-5693554); (R-HSA-5693565); (R-HSA-5693568); (R-HSA-5693571); (R-HSA-5693579); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6796648); (R-HSA-6803204); (R-HSA-6803207); (R-HSA-6804756); (R-HSA-6804757); (R-HSA-6804760); (R-HSA-69473); (R-HSA-69541); (R-HSA-912446); (R-HSA-9664873); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709570); (R-HSA-9709603)", "pathway_count": 30, "publication_count": 927, "publication_id_list": "10023947;10029069;10037601;10212258;10217116;10234507;10323868;10373512;10393175;10397742;10425038;10435622;10438626;10500142;10500146;10518217;10534763;10550055;10551859;10562567;10570149;10570174;10572166;10604467;10608806;10608892;10669743;10673500;10673501;10706620;10710310;10722742;10724175;10728666;10733923;10734115;10744977;10757784;10766245;10783165;10801132;10802669;10807576;10817650;10839545;10856253;10859164;10866324;10873394;10884347;10910365;10921897;10928988;10954706;10959836;10973264;10973490;10980695;10980696;10984493;11006276;11025670;11030628;11080452;11114888;11139606;11237011;11239457;11278253;11292842;11301010;11350971;11359766;11375976;11376695;11390368;11390408;11390642;11418864;11447225;11454856;11459987;11493912;11504915;11511361;11511362;11546806;11551930;11559530;11571269;11571274;11573085;11604075;11606401;11684014;11698410;11702069;11717445;11740489;11747420;11751635;11780126;11832208;11893489;11897822;11923872;11927591;11934988;11955432;11971958;11983168;11988847;12023295;12064478;12077346;12086603;12089322;12139939;12152085;12186630;12191481;12198154;12226092;12228710;12231622;12364621;12370410;12379650;12393752;12393879;12402042;12409306;12447390;12473176;12485996;12509254;12545175;12556884;12578958;12606722;12607003;12607005;12686547;12697768;12702766;12721304;12750383;12773400;12791985;12792649;12832489;12851404;12853476;12890688;12897153;12912992;12914926;12917204;12917326;12947387;12974469;1373520;14507994;14527420;14532133;14553952;14560035;14561766;14576433;14688482;14695167;14702041;14716019;14729977;14734547;14735203;14871926;15042666;15048089;15053879;15053880;15064416;15073321;15126337;15140942;15159397;15164066;15177039;15177042;15177184;15189136;15190204;15201865;15269180;15269203;15273740;15279782;15280931;15304223;15313175;15314656;1535557;15359272;15364926;15369670;15448695;15451442;15456891;15458641;15468306;15485900;15489221;15498871;15510216;15525938;15574327;15580302;15607964;15655109;15665856;15680327;15703751;15707391;15723659;15735003;15781865;15788536;15790808;15802566;15846060;15866171;1586970;15916957;15916963;15916964;15923642;16061182;16086026;16093244;16123081;16135520;16141325;1614537;16148040;16150728;16153896;16163388;16166375;16183742;16188882;16262255;16278218;16292313;16293623;16319535;16322221;16322561;16327781;16337601;16360315;16377563;16402859;16415881;16426903;16427009;16439204;16439205;16452482;16474402;16528719;16530042;16533058;16556909;16600297;16628011;16636671;16651405;16652348;16793542;16845383;16858402;16861926;16874298;16885023;16906133;16914548;16931761;16940754;16997395;17016017;17108107;17108971;17114795;17121812;17124492;17170761;17200553;17200668;17200671;17200672;17284521;17289582;17290226;17344846;17349958;17406032;17420451;17470781;17486112;17502119;17515903;17525332;17525340;17525732;17541404;1754405;17553757;17575048;17580304;17591690;17638905;17694070;17700524;17707234;17848578;17923702;17928296;17962301;17965729;17977839;17981954;17996710;17996711;17998902;18001824;18001825;18006705;18046455;18048416;18059176;18077395;18171670;18235501;18235502;18248856;18256600;18264724;18283122;18317453;18344987;18384426;18397950;18431490;18438399;18443292;18449195;18452278;18465141;18490454;18515798;18535008;18539610;18541667;18550409;18560558;18565893;18571408;18593910;18596698;18617898;18619531;18644861;18663430;18691976;18710941;18757400;18762365;18805091;18833288;18923075;18957201;18959818;18971343;18985806;19001859;19011621;19074197;19092802;19117993;19121998;19147782;19151707;19176521;19203578;19203579;19229036;19234442;19250911;19261749;19268590;19351884;19357644;19369195;19369211;19377469;19398892;19401701;19411853;19419957;19431188;19451263;19505854;19583974;19584259;19596236;19605351;19609323;19621083;19625493;19658174;19671522;19744477;19756449;19782031;19783983;19798429;19816404;19838211;19851285;19914676;19941829;19965871;20014310;20016603;20023648;20026654;20044539;20044541;20062530;20068231;20118233;20126263;20154705;20205745;20207730;20233725;20303873;20351172;20396981;20427287;20438709;20660628;20678255;20700484;20711462;20713061;20729832;20729858;20729859;20799949;20801936;20810650;20818382;20870725;20871615;20871616;20959117;20959462;20965415;20966255;20976220;20978201;21052091;21078189;21144835;21149446;21157431;21219611;21240188;21263215;21282113;21292467;21293379;21317932;21325134;21335604;21338495;21390062;21520333;21565612;21573174;21625555;21659603;21680713;21730132;21730163;21757780;21777809;21804533;21824286;21986495;21997193;22012619;22021381;22024395;22099307;22179609;22194698;22223895;22231403;22234877;22234878;22250480;22323184;22334068;22362889;22373579;22416035;22424782;22465953;22493319;22498490;22508508;22529269;22541429;22589545;22593209;22635276;22645308;22653913;22655027;22661229;22661230;22735644;22739265;22759405;22761798;22766503;22792074;22837425;22841545;22854598;22908299;22940245;22952040;22977173;22977523;22980979;22988298;23000554;23146902;23149936;23166842;23185347;23193277;23306437;23333306;23345434;23349863;23365256;23365634;23383259;2342578;23468639;23481700;23485397;23505375;23509288;23533526;23552604;23620287;23666059;23676219;23684607;23686288;23703390;23705030;23727112;23731732;23754376;23810717;23900392;2392154;23931759;24013206;24076221;24086335;24105688;24113180;24141787;24145406;24236237;24268576;24280901;24366607;24371268;24485656;24505404;24509834;24534091;24554720;24662513;24667604;24715725;24763056;24812435;24831703;24874608;24933654;24952786;24988892;25003995;25077176;25080938;25088203;25111195;25113031;25122754;25240135;25429106;25440060;25512557;25527123;25528640;25558984;25561469;25576301;25601159;25611382;25645385;25659039;25712099;25818648;25821946;25826455;25841101;25865756;25879635;25892735;25904696;25923214;25977998;26071602;26097887;26145171;26154972;26158765;26240375;26275218;26344566;26375851;26416514;26427042;26431963;26438152;26517194;26517239;26556501;26677768;26683224;26714015;26751069;26768311;26774286;26811146;26824362;26860083;26875667;26919204;26992070;27029031;27068951;27089984;27097159;27258787;27259260;27273218;27391441;27462418;27468685;27524627;27600516;27602502;27603133;27613518;27655845;27664052;27705915;27846572;27862975;27899578;27907109;27920218;27941124;27959319;28089683;28158555;28182994;28202063;28202068;28218747;28228285;28240985;28250390;28259977;28319063;28387728;28412751;28446606;28477111;28477132;28508083;28514659;28648892;28649982;28726808;28832583;28834231;28881600;28904123;28973009;29048667;29088817;29147215;29165669;29203878;29242379;29294106;29351928;29393594;29399146;29437277;29493099;29508533;29540829;29557506;29608566;29615613;29632046;29632711;29769354;29786170;30001349;30059200;30088201;30171069;30237520;30245854;30258062;30289697;30297868;30311374;30315122;30410026;30429286;30473536;30524438;30565836;30577494;30612738;30679601;30700497;30783677;30886146;30943920;30944854;30952868;30967632;31114877;31131315;31164689;31217245;31307507;31356149;31372798;31481733;31586400;31636395;31757951;31759252;31805725;31827702;31844290;31857852;31882575;32015321;32059363;32157095;32203529;32226530;32350084;32357974;32377397;32387766;32444694;32479542;32488085;32502341;32665601;32732220;32752095;32879366;32897882;32938616;32983136;33024871;33039867;33091337;33096336;33141586;33195396;33245190;33298915;33392160;33437944;33592498;33628174;33633747;33717175;33802884;33912179;33936100;33968037;33978741;34087483;34105348;34171305;34185709;34211107;34405274;34440403;34509645;34561969;34932366;35051231;35076389;35318648;35561310;35580925;36010968;36172813;36241641;36284347;37217939;37938771;38128537;38554113;38557443;38906885;39226322;39302247;7585962;7686617;7784084;7792600;7834749;7957050;8242741;8242751;8242752;8319905;8422676;8479525;8521392;8589678;8665503;8698354;8702565;8721986;8755918;8756642;8789452;8797579;8808599;8845835;8887688;8929543;8944023;8946918;8954786;8969240;8988033;9008167;9043869;9050866;9063748;9108147;9150358;9168116;9168117;9199932;9259561;9288106;9305631;9311981;9334731;9430729;9443866;9450758;9450874;9463314;9488043;9488723;9497252;9512523;9521587;9573030;9651580;9705271;9707615;9711876;9733514;9733515;9766667;9781043;9792409;9792410;9826654;9826763;9837724;9843217;9872980;9873016;9887333;9892178;9920933;9925639", "class_list": "", "function": "ATM inhibition exploits checkpoint defects and ATM-dependent double strand break repair in TP53-mutant glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphorylation of the DNA damage repair factor 53BP1 by ATM kinase controls neurodevelopmental programs in cortical brain organoids. Publication Status: Online-Only, [RefSeq, PubMed]; REV7-p53 interaction inhibits ATM-mediated DNA damage signaling., [RefSeq, PubMed]; SIRT2 promotes base excision repair by transcriptionally activating OGG1 in an ATM/ATR-dependent manner., [RefSeq, PubMed]; Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor (PubMed:10550055, PubMed:10839545, PubMed:10910365, PubMed:12556884, PubMed:14871926, PubMed:15064416, PubMed:15448695, PubMed:15456891, PubMed:15790808, PubMed:15916964, PubMed:17923702, PubMed:21757780, PubMed:24534091, PubMed:27941124, PubMed:35076389, PubMed:9733514). Recognizes the substrate consensus sequence [ST]-Q (PubMed:10550055, PubMed:10839545, PubMed:10910365, PubMed:12556884, PubMed:14871926, PubMed:15448695, PubMed:15456891, PubMed:15916964, PubMed:17923702, PubMed:24534091, PubMed:27941124, PubMed:9733514). Phosphorylates 'Ser-139' of histone variant H2AX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism (By similarity). Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FBXW7, FANCD2, NFKBIA, BRCA1, CREBBP/CBP, RBBP8/CTIP, FBXO46, MRE11, nibrin (NBN), RAD50, RAD17, PELI1, TERF1, UFL1, RAD9, UBQLN4, UCHL3 and DCLRE1C (PubMed:10550055, PubMed:10766245, PubMed:10802669, PubMed:10839545, PubMed:10910365, PubMed:10973490, PubMed:11375976, PubMed:12086603, PubMed:15456891, PubMed:19965871, PubMed:21757780, PubMed:24534091, PubMed:26240375, PubMed:26774286, PubMed:27941124, PubMed:30171069, PubMed:30612738, PubMed:30886146, PubMed:30952868, PubMed:38128537, PubMed:9733515, PubMed:9843217). May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation (PubMed:19965871). Phosphorylates ATF2 which stimulates its function in DNA damage response (PubMed:15916964). Phosphorylates ERCC6 which is essential for its chromatin remodeling activity at DNA double-strand breaks (PubMed:29203878). Phosphorylates TTC5/STRAP at 'Ser-203' in the cytoplasm in response to DNA damage, which promotes TTC5/STRAP nuclear localization (PubMed:15448695). Also involved in pexophagy by mediating phosphorylation of PEX5: translocated to peroxisomes in response to reactive oxygen species (ROS), and catalyzes phosphorylation of PEX5, promoting PEX5 ubiquitination and induction of pexophagy (PubMed:26344566)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 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": 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": 35, "reported_mutagensis": 22, "reported_glycation": 0, "reported_snv": 345, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 28, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2RNX5;O15429;Q12758;Q16551;Q93007;Q9NP02;Q9UCX7", "ec_number_list": "2.7.11.1;3.1.3.48;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;1.14.11.69;1.14.11.66;3.1.26.-;2.7.11.22;2.3.2.27;2.7.11.13;2.3.2.26;2.1.1.357;2.7.2.3;2.7.11.23;4.2.99.18;5.6.2.4;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;5.6.2.3;6.5.1.1;2.3.1.48;3.1.13.-;2.7.7.48;2.7.7.6;2.7.7.7;2.3.1.-;2.7.1.153;2.7.1.137;3.4.19.-;2.7.11.26;2.7.1.154;3.1.-.-;3.1.3.16;2.7.11.31;2.3.2.23;2.3.2.-;3.6.4.-;2.7.11.12;5.6.2.1;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;3.4.19.12;2.7.11.38;2.7.11.34;3.6.-.-;3.1.22.-;3.1.11.2;3.6.1.-;3.4.21.-;5.6.2.-;2.7.1.150", "go_molecular_function": "GO:0003677 DNA binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0098850 extrinsic component of synaptic vesicle membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0010506 regulation of autophagy;GO:0010628 positive regulation of gene expression;GO:0030335 positive regulation of cell migration;GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 93.6, "record_id": "Q13315-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P11230-1", "uniprot_id": "ACHB_HUMAN", "mass": 56698.0, "length": 501, "protein_name": "Acetylcholine receptor subunit beta", "gene_name": "CHRNB1", "organism": "Human", "refseq_name": "acetylcholine receptor subunit beta precursor", "refseq_ac": "NP_000738", "gene_names_uniprotkb": "CHRNB1; ACHRB; CHRNB", "gene_names_refseq": "ACHRB; CHRNB1; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS", "protein_names_uniprotkb": "Acetylcholine receptor subunit beta", "protein_names_refseq": "acetylcholine receptor subunit beta precursor; acetylcholine receptor subunit beta; acetylcholine receptor, nicotinic, beta 1 (muscle); cholinergic receptor, nicotinic beta 1; cholinergic receptor, nicotinic, beta 1 (muscle); cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)", "tax_id": 9606, "disease": "congenital myasthenic syndrome 2C (Disease Ontology:DOID:0110680); congenital myasthenic syndrome 2A (Disease Ontology:DOID:0110681)", "pathway": " (hsa:1140)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10562302;11237011;15609996;23325468;27375219;2740233;28153524;28228285;29632711;30410026;30524438;30779550;31844290;32161166;32488085;32938616;33296147;33537174;33968037;33981976;34171305;35580925;35969799;36215666;36241641;8315383;8651643;8872460", "class_list": "", "function": "After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum., [RefSeq, PubMed]; Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis., [RefSeq, PubMed]; Study traced the cause of congenital myasthenia syndrome in unrelated patients with dominant missense mutations in the M2 domain of AChR. A valine residue is replaced by a smaller alanine either in the epsilon subunit or an equivalent position in the beta one. Also, each valine in the valine ring was found to contribute to channel kinetics equally, and the valine ring has bee optimized during evolution to govern channe..., [RefSeq, PubMed]; The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; This study reports on the presence of the CHRNB1 at the cellular level in human skeletal muscle and placenta and that mRNA expression mirrors that of protein within cell types., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 3, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z5H1;Q8IZ46;Q96FB8", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0015276 ligand-gated monoatomic ion channel activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:0042166 acetylcholine binding;GO:0015267 channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0031594 neuromuscular junction;GO:0045202 synapse;GO:0043005 neuron projection", "go_biological_process": "GO:0003009 skeletal muscle contraction;GO:0006936 muscle contraction;GO:0007165 signal transduction;GO:0007271 synaptic transmission, cholinergic;GO:0007274 neuromuscular synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "P11230-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43196-1", "uniprot_id": "MSH5_HUMAN", "mass": 92875.0, "length": 834, "protein_name": "MutS protein homolog 5", "gene_name": "MSH5-SAPCD1; MSH5", "organism": "Human", "refseq_name": "mutS protein homolog 5 isoform c", "refseq_ac": "NP_002432", "gene_names_uniprotkb": "MSH5-SAPCD1; MSH5; MSH5", "gene_names_refseq": "G7; MSH5; MUTSH5; NG23; POF13; SPGF74", "protein_names_uniprotkb": "MutS protein homolog 5; hMSH5", "protein_names_refseq": "mutS protein homolog 5 isoform c; mutS protein homolog 5", "tax_id": 9606, "disease": "spermatogenic failure 74 (Disease Ontology:DOID:0070573); primary ovarian insufficiency 13 (Disease Ontology:DOID:0080870); lung non-small cell carcinoma (Disease Ontology:DOID:3908); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:4439); (R-HSA-912446)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10029069;10438626;10562567;10728666;10734115;10928988;11237011;11292842;14656967;15164066;15304223;15907804;16123081;16292313;16322221;17409188;17541404;17823411;17965729;17977839;17981954;18256600;18535008;20044539;20044541;20062530;20818382;22401567;24715725;25576301;26375851;26992070;27846572;28175301;28228285;28904123;29242379;29557506;29608566;29632046;30315122;30779550;31217245;31530632;31844290;32387766;32897882;33141586;33298915;33717175;33968037;34405274;34509645;34755185;35051231;35580925;35742973;36215666;8929543;9008167;9311981;9450758;9740671;9781043;9787078;9826763", "class_list": "", "function": "A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSgamma Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the post-replicative DNA mismatch repair system (MMR)., [UniProtKB, UniProtKB]; Data have identified the interaction region between the individual subunits of hMSH4-hMSH5 that are likely involved in clamp formation and show that each subunit of the heterodimer binds ATP., [RefSeq, PubMed]; Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The different properties associated with these two hMSH5 variants underscore the potential functional diversity of the human hMSH5 gene. Erratum:[Biochem Biophys Res Commun. 2006 Feb 17;340(3):1018], [RefSeq, PubMed]; These findings suggest that Msh4/5 heterodimers contribute to class switch recombination., [RefSeq, PubMed]; This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 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": 0, "reported_glycation": 0, "reported_snv": 8, "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": "B0V033;B0V034;O60586;Q5BLU9;Q5SSR1;Q8IW44;Q9BQC7", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0003690 double-stranded DNA binding;GO:0030983 mismatched DNA binding;GO:0140664 ATP-dependent DNA damage sensor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0032301 MutSalpha complex", "go_biological_process": "GO:0006298 mismatch repair;GO:0007131 reciprocal meiotic recombination;GO:0051026 chiasma assembly;GO:0007127 meiosis I", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "O43196-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43900-1", "uniprot_id": "PRIC3_HUMAN", "mass": 68609.0, "length": 615, "protein_name": "Prickle planar cell polarity protein 3", "gene_name": "PRICKLE3", "organism": "Human", "refseq_name": "prickle planar cell polarity protein 3 isoform 1", "refseq_ac": "NP_006141", "gene_names_uniprotkb": "PRICKLE3; LMO6", "gene_names_refseq": "LMO6; LOAM; LOAS; PRICKLE3; Pk3", "protein_names_uniprotkb": "Prickle planar cell polarity protein 3; LIM domain only protein 6; LMO-6; Pk3; Prickle-like protein 3; Triple LIM domain protein 6", "protein_names_refseq": "LIM domain only protein 6; LMO-6; prickle homolog 3; prickle planar cell polarity protein 3 isoform 1; prickle-like protein 3; triple LIM domain protein 6", "tax_id": 9606, "disease": "Leber plus disease (Disease Ontology:DOID:0111754); Leber optic atrophy, susceptibility to (MONDO:MONDO:0010640)", "pathway": " (hsa:4007)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;15302935;16959974;16964243;18669648;23186163;23481700;25892735;29242379;29769354;31217245;31844290;32157095;32387766;32516135;32582212;33717175;33936100;35051231;36010968;9344658", "class_list": "", "function": "Involved in the planar cell polarity (PCP) pathway that is essential for the polarization of epithelial cells during morphogenetic processes, including gastrulation and neurulation (By similarity). PCP is maintained by two molecular modules, the global and the core modules, PRICKLE3 being part of the core module (By similarity). Distinct complexes of the core module segregate to opposite sides of the cell, where they interact with the opposite complex in the neighboring cell at or near the adherents junctions (By similarity). Involved in the organization of the basal body (By similarity). Involved in cilia growth and positioning (By similarity). Required for proper assembly, stability, and function of mitochondrial membrane ATP synthase (mitochondrial complex V) (PubMed:32516135)., [UniProtKB, UniProtKB, PubMed]; LIM domain only 6 is a three LIM domain-containing protein. The LIM domain is a cysteine-rich sequence motif that binds zinc atoms to form a specific protein-binding interface for protein-protein interactions. [provided by RefSeq, Jul 2008]., [RefSeq]; PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z8F2;O76007;Q53XR5", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005886 plasma membrane", "go_biological_process": "GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "O43900-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYB9-1", "uniprot_id": "ABI2_HUMAN", "mass": 55663.0, "length": 513, "protein_name": "Abl interactor 2", "gene_name": "ABI2", "organism": "Human", "refseq_name": "abl interactor 2 isoform a", "refseq_ac": "NP_001269854", "gene_names_uniprotkb": "ABI2; ARGBPIA", "gene_names_refseq": "ABI-2; ABI2B; ABI2; AIP-1; AIP1; AblBP3; SSH3BP2; argBP1; argBPIA; argBPIB", "protein_names_uniprotkb": "Abl interactor 2; Abelson interactor 2; Abi-2; Abl-binding protein 3; AblBP3; Arg-binding protein 1; ArgBP1", "protein_names_refseq": "abelson interactor 2; abl binding protein 3; abl interactor 2 isoform a; abl-interacting protein 1 (SH3-containing protein); abl-interactor protein 2b; arg protein tyrosine kinase-binding protein; arg-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10152); (R-HSA-2029482); (R-HSA-4420097); (R-HSA-5663213); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013423); (R-HSA-9664422)", "pathway_count": 8, "publication_count": 407, "publication_id_list": "10037737;10075701;10207622;10219243;10232922;10395673;10464238;10490598;10496324;10498863;10508610;10523665;10523675;10526156;10559246;10559936;10579713;10618392;10677529;10692392;10699171;10699464;10724160;10744763;10749680;10781580;10847683;10873802;10878810;10958683;10995437;11007481;11058585;11085924;11145705;11149925;11157975;11231582;11237011;11276226;11278486;11329366;11340081;11373293;11396949;11431473;11432776;11516653;11553796;11584276;11672528;11695992;11696015;11704860;11707441;11747816;11756552;11773441;11803464;11804587;11804589;11804590;11829459;11854399;11884391;11912491;11919634;11956649;11961559;12055636;12071859;12093360;12096337;12105426;12134158;12189515;12195014;12213210;12214271;12215529;12221096;12235133;12351724;12391143;12432077;12464388;12531887;12546821;12547822;12650940;12660731;12665586;12743368;12810700;12820653;12857875;12877655;12923183;1314888;14512443;14514689;1464587;14675773;14676198;14718541;14724572;15023524;15026417;15033976;15040784;15064355;15107133;15133129;15147912;15169870;15247219;15302923;15308668;15339924;15342493;15452139;15485661;15507211;15542837;15572692;15579468;15601624;15611138;15657136;15688067;15695828;15728722;15814684;15850391;15858067;15897194;15962004;16002401;16081809;16112081;16116428;16184169;16243035;16243036;16262445;16336962;16473593;16492808;16507994;16519628;16546099;1660188;16636067;16641196;16702231;16760434;16762923;16777452;16777849;16862148;16880808;16896804;16914516;16966330;16968698;17030947;17060455;17077126;17145773;17158234;17188549;17196961;17199126;17202194;17214551;17237347;17244649;17269730;17293873;17308335;17583407;17599059;17686471;17698854;17702745;17765681;17804252;17976533;18006505;18045877;18056264;18070890;18191593;18218625;18249095;18347018;18391171;18396277;18426980;18653540;18662984;18669648;18697831;18838382;19230644;19267251;19269969;19494238;19534724;19605563;19673492;19713215;19741094;19934221;19955216;20068231;20400958;20460433;20658524;20679435;20810653;21037092;21107423;21148482;21151158;21209280;21378159;21406692;21419341;21445309;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22327215;22407364;22475431;22544926;22608513;22689825;22734669;22862954;22970203;23186163;23209303;23216836;23255595;23288169;23434736;23572525;23675550;23707487;23718289;23757206;23870057;23940355;24086303;24259668;24335996;24352656;24623723;24715725;2474607;24859002;24933155;24960694;25024229;25121749;25211221;25428919;25576301;25704760;25721503;25795300;25862245;26016997;26129894;26154972;26529257;26628301;26887924;26992070;27117132;27145964;27216196;27397612;27452731;27481945;27555588;27566826;27600516;27713499;27806292;27862975;28114311;28196833;28228285;28356423;28397838;28904123;29089502;29242379;29358323;29382922;29393594;29508533;29557506;29786170;30192525;30315122;30379171;30429286;30524438;30853411;31373491;31389670;31844290;31871319;32157095;32203420;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33537174;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35254053;35561310;36010968;36241641;37042842;37938771;38844969;39531497;40596516;7479768;7509446;7512369;7559638;7590236;7673236;7721814;7753201;7835339;7848918;8021274;8107774;8537347;8543060;8617235;8643598;8645157;8649853;8662891;8756646;8769096;8798539;8805223;8809042;8810315;8816443;8939998;8986718;8990121;8994827;9013646;9099726;9113980;9182576;9252344;9305890;9393975;9398617;9438849;9472046;9490638;9497316;9582072;9600938;9659915;9670022;9705280;9792683;9799231;9822598;9843499;9883880;9885284;9988689", "class_list": "", "function": "PIM1 phosphorylates ABI2 to enhance actin dynamics and promote tumor invasion., [RefSeq, PubMed]; Regulator of actin cytoskeleton dynamics underlying cell motility and adhesion. Functions as a component of the WAVE complex, which activates actin nucleating machinery Arp2/3 to drive lamellipodia formation (PubMed:21107423). Acts as a regulator and substrate of nonreceptor tyrosine kinases ABL1 and ABL2 involved in processes linked to cell growth and differentiation. Positively regulates ABL1-mediated phosphorylation of ENAH, which is required for proper polymerization of nucleated actin filaments at the leading edge (PubMed:10498863, PubMed:7590236, PubMed:8649853). Contributes to the regulation of actin assembly at the tips of neuron projections. In particular, controls dendritic spine morphogenesis and may promote dendritic spine specification toward large mushroom-type spines known as repositories of memory in the brain (By similarity). In hippocampal neurons, may mediate actin-dependent BDNF-NTRK2 early endocytic trafficking that triggers dendrite outgrowth (By similarity). Participates in ocular lens morphogenesis, likely by regulating lamellipodia-driven adherens junction formation at the epithelial cell-secondary lens fiber interface (By similarity). Also required for nascent adherens junction assembly in epithelial cells (PubMed:15572692)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The HHEX-ABI2/SLC17A9 axis induces cancer stem cell-like properties and tumorigenesis in HCC. 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DSN1;Q13147;Q13249;Q13801;Q9BV70", "ec_number_list": "", "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0008093 cytoskeletal anchor activity;GO:0019900 kinase binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005912 adherens junction", "go_biological_process": "GO:0016477 cell migration;GO:0018108 peptidyl-tyrosine phosphorylation;GO:0001764 neuron migration;GO:0007010 cytoskeleton organization;GO:0008154 actin polymerization or depolymerization", "synthesized_glycan_count": 0, "hit_score": 41.4, "record_id": "Q9NYB9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJU6-1", "uniprot_id": "DBNL_HUMAN", "mass": 48207.0, "length": 430, "protein_name": "Drebrin-like protein", "gene_name": "DBNL", "organism": "Human", "refseq_name": "drebrin-like protein isoform b", "refseq_ac": "NP_001014436", "gene_names_uniprotkb": "DBNL; CMAP; PP5423; SH3P7", "gene_names_refseq": "ABP1; DBNL; HIP-55; HIP55; SH3P7", "protein_names_uniprotkb": "Drebrin-like protein; Cervical SH3P7; Cervical mucin-associated protein; Drebrin-F; HIP-55; HPK1-interacting protein of 55 kDa; SH3 domain-containing protein 7", "protein_names_refseq": "HPK1-interacting protein of 55 kDa; SH3 domain-containing protein 7; actin-binding protein 1; cervical SH3P7; cervical mucin-associated protein; drebrin-F; drebrin-like protein isoform b; drebrin-like protein; src homology 3 domain-containing protein HIP-55", "tax_id": 9606, "disease": "", "pathway": " (hsa:28988); (R-HSA-264870); (R-HSA-6794361); (R-HSA-6798695)", "pathway_count": 4, "publication_count": 128, "publication_id_list": "10469173;10564664;10567356;10823823;10891503;10899937;11237011;11423904;11604393;11689006;14557276;14729663;15144186;15498874;15540461;15592455;15637062;16242404;16497976;16624946;16846852;16964243;17081983;17287340;17897391;17924679;18088087;18491316;18669648;18707149;18812509;18829961;19413330;19608861;19651622;19664994;19664995;19690332;19768801;19901323;20058876;20064387;20064388;20068231;20166139;20519524;21282647;21406692;21725060;23186163;23283305;23301498;23481700;23650620;24275569;24651461;24714562;24715725;25378172;25418920;25505266;25576301;26375851;26992070;27600516;27846572;27869121;27920218;28832583;28834231;28904123;29242379;29508533;29557506;29632046;29632711;29769354;29786170;30379171;30429286;30833945;31154438;31217245;31373491;31844290;31848261;32157095;32282191;32488085;32897882;32938616;32983136;33043033;33091337;33123756;33592498;33981976;34019948;34171305;34229054;34509645;34725712;34932366;35051231;35154160;35318648;35561310;35580925;36215666;36241641;36284347;37938771;38665916;40136647;40596516;40914422;7489707;7695896;7736595;8576240;8692836;9069287;9323209;9624143;9808458;9891087;9927700;9930654", "class_list": "", "function": "Adapter protein that binds F-actin and DNM1, and thereby plays a role in receptor-mediated endocytosis. Plays a role in the reorganization of the actin cytoskeleton, formation of cell projections, such as neurites, in neuron morphogenesis and synapse formation via its interaction with WASL and COBL. Does not bind G-actin and promote actin polymerization by itself. Required for the formation of organized podosome rosettes (By similarity). May act as a common effector of antigen receptor-signaling pathways in leukocytes. Acts as a key component of the immunological synapse that regulates T-cell activation by bridging TCRs and the actin cytoskeleton to gene activation and endocytic processes., [UniProtKB, PubMed]; Dimerization of Human Drebrin-like Protein Governs Its Biological 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": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 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": "A4D2I9;B4DDP6;B4DEM2;C9J7P1;P84070;Q6IAI8;Q96F30;Q96K74;Q9HBN8;Q9NR72", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0008047 enzyme activator activity;GO:0019904 protein domain specific binding;GO:0030674 protein-macromolecule adaptor activity;GO:0051015 actin filament binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005769 early endosome", "go_biological_process": "GO:0006897 endocytosis;GO:0048812 neuron projection morphogenesis;GO:0061024 membrane organization;GO:0007416 synapse assembly;GO:0016601 Rac protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "Q9UJU6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WWZ7-1", "uniprot_id": "ABCA5_HUMAN", "mass": 186508.0, "length": 1642, "protein_name": "Cholesterol transporter ABCA5", "gene_name": "ABCA5", "organism": "Human", "refseq_name": "cholesterol transporter ABCA5", "refseq_ac": "NP_061142", "gene_names_uniprotkb": "ABCA5; KIAA1888", "gene_names_refseq": "ABC13; ABCA5; DEL17q24; EST90625; HTC3; HTGH", "protein_names_uniprotkb": "Cholesterol transporter ABCA5; 7.6.2.-; ATP-binding cassette sub-family A member 5", "protein_names_refseq": "ATP-binding cassette A5; ATP-binding cassette, sub-family A (ABC1), member 5; cholesterol transporter ABCA5", "tax_id": 9606, "disease": "", "pathway": " (hsa:23461); (R-HSA-1369062)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10551832;10704444;10777694;10873640;11095984;11099417;11178988;11237011;11248239;11309290;11478798;11606068;11718719;12150964;12183068;12504089;12509503;12821155;12917409;14570867;14592415;15007061;15044640;15209530;15994327;16007253;17289887;20166139;24715725;24831815;25125465;25502872;25576301;25892735;26992070;27600516;28228285;28467828;28832583;29242379;29557506;29632711;29769354;29789417;30315122;30484775;31092671;31154438;31844290;31998317;32157095;32350084;32357974;32387766;32488085;32687853;32938616;33404706;33633747;33717175;33968037;33981976;34357683;34932366;35051231;35150007;35154160;35580925;36010968;36241641;36284347;36581221;37348644;8411712;8507690;8706931;9345306", "class_list": "", "function": "ABCA5 may have a role in prostatic intraepithelial neoplasia, [RefSeq, PubMed]; Cholesterol efflux transporter in macrophages that is responsible for APOAI/high-density lipoproteins (HDL) formation at the plasma membrane under high cholesterol levels and participates in reverse cholesterol transport (PubMed:25125465). May play a role in the processing of autolysosomes (By similarity)., [UniProtKB, PubMed, UniProtKB]; Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity., [RefSeq, PubMed]; Cloning of ABCA5 and detection of a splice variant., [RefSeq, PubMed]; Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis., [RefSeq, PubMed]; Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle., [RefSeq, PubMed]; Novel Mechanism of Cholesterol Transport by ABCA5 in Macrophages and Its Role in Dyslipidemia., [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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]., [RefSeq]; This report represents the first extensive expression and functional study of ABCA5 in the human brain and our data suggest a plausible function of ABCA5 in the brain as a cholesterol transporter associated with Abeta generation, [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "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": "Q8IVJ2;Q96LJ1;Q96MS4;Q96PZ9;Q9NY14", "ec_number_list": "7.6.2.-;7.6.2.1;7.6.2.2", "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0016887 ATP hydrolysis activity;GO:0140359 ABC-type transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0006869 lipid transport;GO:0008203 cholesterol metabolic process;GO:0010745 negative regulation of macrophage derived foam cell differentiation;GO:0033344 cholesterol efflux;GO:0034375 high-density lipoprotein particle remodeling", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q8WWZ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95490-1", "uniprot_id": "AGRL2_HUMAN", "mass": 163349.0, "length": 1459, "protein_name": "Adhesion G protein-coupled receptor L2", "gene_name": "ADGRL2", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor L2 isoform 1 precursor", "refseq_ac": "NP_001284633", "gene_names_uniprotkb": "ADGRL2; KIAA0786; LEC1; LPHH1; LPHN2", "gene_names_refseq": "ADGRL2; CIRL2; CL2; LEC1; LPHH1; LPHN2", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor L2; CIRL-2; Calcium-independent alpha-latrotoxin receptor 2; Latrophilin homolog 1; Latrophilin-2; Lectomedin-1", "protein_names_refseq": "adhesion G protein-coupled receptor L2 isoform 1 precursor; calcium-independent alpha-latrotoxin receptor 2; latrophilin homolog 1; latrophilin-2; lectomedin-1", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094)", "pathway": " (hsa:23266)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;10030676;10760572;11237011;17456239;19159218;21406692;23301498;23647072;24190977;24275569;24715725;25713288;25880248;26154972;26758079;26992070;28218747;28467828;28649982;28904123;29242379;29437277;29741879;30315122;30340542;30459171;31154438;31844290;32157095;32357974;32387766;32938616;33392160;33592498;33691108;33798451;33912179;33968037;34019948;34171305;34357683;34509645;34581723;35051231;35580925;36010968;37074911;37938771;38253038;38886581;40914422", "class_list": "", "function": "Adhesion GPCR Latrophilin-2 Specifies Cardiac Lineage Commitment through CDK5, Src, and P38MAPK., [RefSeq, PubMed]; LPHN2 inhibits vascular permeability by differential control of endothelial cell adhesion., [RefSeq, PubMed]; Latrophilin-2 mediates fluid shear stress mechanotransduction at endothelial junctions., [RefSeq, PubMed]; Orphan adhesion G protein-coupled receptor (aGPCR), which mediates synapse specificity (By similarity). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors (By similarity). Following G protein-coupled receptor activation, associates with cell adhesion molecules that are expressed at the surface of adjacent cells to direct synapse specificity. Specifically mediates the establishment of perforant-path synapses on CA1-region pyramidal neurons in the hippocampus. Localizes to postsynaptic spines in excitatory synapses in the S.lacunosum-moleculare and interacts with presynaptic cell adhesion molecules, such as teneurins, promoting synapse formation (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The results of this study suggest that this ADGRL2 variation impedes the proper development of the cerebellum resulting in RES which is thought to occur when the cerebellar primordium develops and probably results from abnormal function of genes expressed during initial patterning of the mesencephalon-rhombencephalon Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors. The encoded protein participates in the regulation of exocytosis. The proprotein is thought to be further cleaved within a cysteine-rich G-protein-coupled receptor proteolysis site into two chains that are non-covalently bound at the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 68, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 1, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "A5XEI2;B1ALT8;B1ALT9;B1ALU0;B1ALU2;B1ALU4;B1ALU5;B1ALU6;O94882;Q5VX76;Q9UKY5;Q9UKY6", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0016524 latrotoxin receptor activity;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045211 postsynaptic membrane;GO:0097060 synaptic membrane", "go_biological_process": "GO:1904861 excitatory synapse assembly;GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "O95490-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UNE7-1", "uniprot_id": "CHIP_HUMAN", "mass": 34856.0, "length": 303, "protein_name": "E3 ubiquitin-protein ligase CHIP", "gene_name": "STUB1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase CHIP isoform b", "refseq_ac": "NP_001280126", "gene_names_uniprotkb": "STUB1; CHIP; PP1131", "gene_names_refseq": "CHIP; HSPABP2; NY-CO-7; SCA48; SCAR16; SDCCAG7; STUB1; UBOX1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase CHIP; 2.3.2.27; Antigen NY-CO-7; CLL-associated antigen KW-8; Carboxy terminus of Hsp70-interacting protein; RING-type E3 ubiquitin transferase CHIP; STIP1 homology and U box-containing protein 1", "protein_names_refseq": "CLL-associated antigen KW-8; E3 ubiquitin-protein ligase CHIP isoform b; E3 ubiquitin-protein ligase CHIP; RING-type E3 ubiquitin transferase CHIP; STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase; antigen NY-CO-7; carboxy terminus of Hsp70-interacting protein; heat shock protein A binding protein 2 (c-terminal); serologically defined colon cancer antigen 7", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 16 (Disease Ontology:DOID:0080029); cerebellar ataxia type 48 (Disease Ontology:DOID:0111746); Duchenne muscular dystrophy (Disease Ontology:DOID:11723)", "pathway": " (hsa:10273); (R-HSA-2173788); (R-HSA-5213460); (R-HSA-5357905); (R-HSA-5675482); (R-HSA-8863795); (R-HSA-8939902); (R-HSA-8948751); (R-HSA-983168)", "pathway_count": 9, "publication_count": 306, "publication_id_list": "10215629;10330192;10519551;10521396;10572046;10757800;10837247;10911365;11035045;11062501;11098060;11146632;11158580;11163210;11181075;11237011;11278251;11350924;11427719;11435423;11557750;11577081;12000792;12151385;12167698;12200376;12239347;12297295;12519765;12646216;12709429;12738770;12923053;14660651;14701756;14716293;14718519;14734113;15024054;15215316;15224091;15224092;15258597;15302935;15466472;15496141;15498874;15571818;15703179;15781469;15870263;16027725;16061177;16115867;16169850;16282325;16307917;16421188;16595681;16682944;16728642;16829951;16829952;16849449;16954532;16964243;17081983;17218260;17287340;17314102;17369820;17525332;17644308;17702576;17786208;18042044;18094050;18178551;18452278;18541707;18570872;18662542;18669648;18691976;18767875;19028597;19103148;19278658;19289468;19345329;19352404;19413330;19415658;19416807;19423554;19452197;19473982;19483080;19489725;19524512;19524513;19567782;19651622;19664995;19690332;19713937;19729658;19758997;19851334;19874575;19910467;19933325;19940261;20060297;20061380;20068231;20129061;20166139;20185725;20219915;20230923;20304918;20385093;20724525;20937913;21235526;21376233;21406692;21408173;21532586;21737330;21931630;22045334;22179575;22265413;22297296;22344298;22366786;22421439;22422618;22427670;22435550;2261476;22817896;22848449;23186163;23301498;23313255;23403054;23419514;23560854;23746843;23943595;23973223;23990462;24043303;24059293;24098568;24113144;24246475;24270891;24275569;24312598;24316671;24323043;24367090;24613385;24703947;24719489;24726323;24726327;24742043;24813885;25081058;25258038;25260729;25418920;25547115;25548167;25565632;25645385;25852146;25996294;26091038;26183061;26265139;26280536;26344099;26634371;26775703;26778333;26811146;26866270;26900751;26933192;26992070;26997266;27307491;27353360;27458237;27545878;27552911;27591049;27708256;27862975;27920218;28228285;28467828;28506461;28510447;28514659;28661484;28813410;28832583;28904123;28920952;28920954;29242379;29314611;29393594;29557506;29632046;29632711;29642005;29681455;29883609;29883610;29930286;29934347;30146158;30315122;30361438;30381368;30420664;30429286;30770249;30779550;30980393;30988283;31031142;31138766;31154438;31217245;31358971;31366726;31511692;31844290;32157095;32161166;32265295;32269263;32320653;32350084;32387766;32488085;32502341;32561730;32897882;32938616;32983136;33043033;33091337;33214551;33298915;33376131;33469115;33798445;33912179;33936100;33968037;34019948;34087483;34162724;34171305;34229054;34357683;34363755;34433824;34561969;34876703;34999730;35051231;35154160;35251023;35580925;35941131;36241641;37217939;38661247;38665916;38962894;38973070;39059559;7531702;7541030;7542744;7667287;9049422;9065443;9215638;9335507;9380723;9461599;9610721;9668046;9856985", "class_list": "", "function": "A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder., [RefSeq, PubMed]; E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation (PubMed:10330192, PubMed:11146632, PubMed:11557750, PubMed:23990462, PubMed:26265139). Plays a role in the maintenance of mitochondrial morphology and promotes mitophagic removal of dysfunctional mitochondria; thereby acts as a protector against apoptosis in response to cellular stress (By similarity). Negatively regulates vascular smooth muscle contraction, via degradation of the transcriptional activator MYOCD and subsequent loss of transcription of genes involved in vascular smooth muscle contraction (By similarity). Promotes survival and proliferation of cardiac smooth muscle cells via ubiquitination and degradation of FOXO1, resulting in subsequent repression of FOXO1-mediated transcription of pro-apoptotic genes (PubMed:19483080). Ubiquitinates ICER-type isoforms of CREM and targets them for proteasomal degradation, thereby acts as a positive effector of MAPK/ERK-mediated inhibition of apoptosis in cardiomyocytes (PubMed:20724525). Inhibits lipopolysaccharide-induced apoptosis and hypertrophy in cardiomyocytes, via ubiquitination and subsequent proteasomal degradation of NFATC3 (PubMed:30980393). Collaborates with ATXN3 in the degradation of misfolded chaperone substrates: ATXN3 restricting the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (PubMed:10330192, PubMed:11146632, PubMed:11557750, PubMed:23990462). Ubiquitinates NOS1 in concert with Hsp70 and Hsp40 (PubMed:15466472). Modulates the activity of several chaperone complexes, including Hsp70, Hsc70 and Hsp90 (PubMed:10330192, PubMed:11146632, PubMed:15466472). Ubiquitinates CHRNA3 targeting it for endoplasmic reticulum-associated degradation in cortical neurons, as part of the STUB1-VCP-UBXN2A complex (PubMed:26265139). Ubiquitinates and promotes ESR1 proteasomal degradation in response to age-related circulating estradiol (17-beta-estradiol/E2) decline, thereby promotes neuronal apoptosis in response to ischemic reperfusion injury (By similarity). Mediates transfer of non-canonical short ubiquitin chains to HSPA8 that have no effect on HSPA8 degradation (PubMed:11557750, PubMed:23990462). Mediates polyubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair: catalyzes polyubiquitination by amplifying the HUWE1/ARF-BP1-dependent monoubiquitination and leading to POLB-degradation by the proteasome (PubMed:19713937). Mediates polyubiquitination of CYP3A4 (PubMed:19103148). Ubiquitinates EPHA2 and may regulate the receptor stability and activity through proteasomal degradation (PubMed:19567782). Acts as a co-chaperone for HSPA1A and HSPA1B chaperone proteins and promotes ubiquitin-mediated protein degradation (PubMed:27708256). Negatively regulates the suppressive function of regulatory T-cells (Treg) during inflammation by mediating the ubiquitination and degradation of FOXP3 in a HSPA1A/B-dependent manner (PubMed:23973223). Catalyzes monoubiquitination of SIRT6, preventing its degradation by the proteasome (PubMed:24043303). Likely mediates polyubiquitination and down-regulates plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity (PubMed:28813410). Negatively regulates TGF-beta signaling by modulating the basal level of SMAD3 via ubiquitin-mediated degradation (PubMed:24613385). Plays a role in the degradation of TP53 (PubMed:26634371). Mediates ubiquitination of RIPK3 leading to its subsequent proteasome-dependent degradation (PubMed:29883609). May regulate myosin assembly in striated muscles together with UBE4B and VCP/p97 by targeting myosin chaperone UNC45B for proteasomal degradation (PubMed:17369820). Ubiquitinates PPARG in macrophages playing a role in M2 macrophages polarization and angiogenesis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8., [RefSeq, PubMed]; STUB1 promotes the degradation of HSPB1 and induces ferroptosis in lung cancer cells., [RefSeq, PubMed]; Staphylococcus aureus infection initiates hypoxia-mediated STIP1 homology and U-box containing protein 1 upregulation to trigger osteomyelitis., [RefSeq, PubMed]; This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "reported_glycation": 0, "reported_snv": 3, "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": "A2IDB9;O60526;Q969U2;Q9HBT1", "ec_number_list": "2.3.2.26;2.3.2.24;2.3.2.23;2.4.1.255;2.3.2.27;2.3.2.31;2.3.2.-;2.7.10.1;3.6.4.10;6.2.1.-;3.1.3.67;3.1.3.-;3.1.3.16;3.1.3.48;2.3.2.34;2.3.2.32;2.7.11.1;3.4.22.61;3.6.4.-;2.3.2.25;2.3.2.36", "go_molecular_function": "GO:0030911 TPR domain binding;GO:0019899 enzyme binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042803 protein homodimerization activity;GO:0051087 protein-folding chaperone binding", "go_cellular_component": "GO:0031371 ubiquitin conjugating enzyme complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0031943 regulation of glucocorticoid metabolic process;GO:0090035 positive regulation of chaperone-mediated protein complex assembly;GO:0061684 chaperone-mediated autophagy;GO:1901526 positive regulation of mitophagy;GO:0002931 response to ischemia", "synthesized_glycan_count": 0, "hit_score": 30.9, "record_id": "Q9UNE7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPB6-1", "uniprot_id": "PAR6A_HUMAN", "mass": 37388.0, "length": 346, "protein_name": "Partitioning defective 6 homolog alpha", "gene_name": "PARD6A", "organism": "Human", "refseq_name": "partitioning defective 6 homolog alpha isoform 2", "refseq_ac": "NP_001032358", "gene_names_uniprotkb": "PARD6A; PAR6A", "gene_names_refseq": "PAR-6A; PAR6C; PAR6alpha; PAR6; PARD6A; TAX40; TIP-40", "protein_names_uniprotkb": "Partitioning defective 6 homolog alpha; PAR-6 alpha; PAR-6A; PAR-6; PAR6C; TIP-40; Tax interaction protein 40", "protein_names_refseq": "PAR-6 alpha; Tax-interacting protein 40; par-6 partitioning defective 6 homolog alpha; partitioning defective 6 homolog alpha isoform 2; partitioning defective 6 homolog alpha; partitioning-defective protein 6; tax interaction protein 40", "tax_id": 9606, "disease": "", "pathway": " (hsa:50855); (R-HSA-2173791); (R-HSA-420029); (R-HSA-4608870); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013420); (R-HSA-9013424)", "pathway_count": 8, "publication_count": 317, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;10877843;10934474;10954424;10958683;11007481;11058585;11085924;11149925;11237011;11257119;11260256;11306516;11373293;11396949;11431473;11432776;11447115;11459829;11584276;11606631;11672528;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;11964389;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12432077;12464619;12531887;12545177;12546821;12547822;12650940;12665586;12724779;12773384;12857875;12860998;12877655;12907671;12923183;12953056;14506234;14512443;14514689;14521508;1464587;14657501;14675773;14718541;14718572;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15254234;15260990;15302923;15304341;15339924;15342493;15345747;15350535;15485661;15507211;15556869;15579468;15590654;15601624;15611138;15728722;15761148;15850391;15858067;15897194;15937478;16002401;16112081;16116428;16129888;16184169;16217026;16243036;16473593;16492808;16507994;16519628;16630611;16636067;16687519;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17355222;17504809;17583407;17599059;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18669648;18691976;18786931;18835169;18838382;18929667;19064640;19269969;19379695;19494238;19605563;19617897;19673492;19713215;19934221;20400958;20460433;20547754;20679435;20719959;20810653;21148482;21258369;21454492;21508312;21542010;21565175;21613211;21685891;21730051;21865595;21983142;21989057;22004470;22096251;22298643;22339630;22407364;22461490;22475431;22571869;22608513;22734669;22970203;23140627;23186163;23200924;23209303;23249950;23255595;23288169;23406282;23434736;23469015;23535009;23572525;23707487;23718289;23940355;24086303;24259668;24335996;24352656;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25576301;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26598620;26887924;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;28028151;28114311;28196833;28825699;28860633;28904123;29089502;29242379;29358323;29382922;30061681;30853411;31871319;32203420;32580209;32737221;35051231;35379775;35580925;36542194;38954805;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9233797;9268338;9305890;9405671;9438849;9482110;9490638;9497316;9582072;9659915;9670022;9674432;9778532;9792683;9822598;9829970;9843499;9846874;9988689", "class_list": "", "function": "A polybasic domain in aPKC mediates Par6-dependent control of membrane targeting and kinase activity., [RefSeq, PubMed]; Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (PubMed:10873802). Regulates centrosome organization and function. Essential for the centrosomal recruitment of key proteins that control centrosomal microtubule organization (PubMed:20719959)., [UniProtKB, PubMed, PubMed]; FOXN2, identified as a novel biomarker in serum, modulates the transforming growth factor-beta signaling pathway through its interaction with partitioning defective 6 homolog alpha, contributing to the pathogenesis of gastric cancer., [RefSeq, PubMed]; Par6 Enhances Glioma Invasion by Activating MEK/ERK Pathway Through a LIN28/let-7d Positive Feedback Loop., [RefSeq, PubMed]; Partitioning defective 6 homolog alpha (PARD6A) promotes epithelial-mesenchymal transition via integrin beta1-ILK-SNAIL1 pathway in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 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": "O14911;Q9NPJ7", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0031267 small GTPase binding;GO:0030742 GTP-dependent protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0060341 regulation of cellular localization;GO:0016032 viral process;GO:0051301 cell division;GO:0050714 positive regulation of protein secretion;GO:1904781 positive regulation of protein localization to centrosome", "synthesized_glycan_count": 0, "hit_score": 31.8, "record_id": "Q9NPB6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01009-1", "uniprot_id": "A1AT_HUMAN", "mass": 46737.0, "length": 418, "protein_name": "Alpha-1-antitrypsin", "gene_name": "SERPINA1", "organism": "Human", "refseq_name": "alpha-1-antitrypsin precursor", "refseq_ac": "NP_000286", "gene_names_uniprotkb": "SERPINA1; AAT; PI; PRO0684; PRO2209", "gene_names_refseq": "A1AT; A1A; AAT; PI1; PI; PRO2275; SERPINA1; alpha1AT; nNIF", "protein_names_uniprotkb": "Alpha-1-antitrypsin; Alpha-1 protease inhibitor; Alpha-1-antiproteinase; Serpin A1", "protein_names_refseq": "alpha-1 antitrypsin; alpha-1 protease inhibitor; alpha-1 proteinase inhibitor; alpha-1-antiproteinase; alpha-1-antitrypsin precursor; epididymis secretory sperm binding protein; protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin; serine (or cysteine) proteinase inhibitor, clade A, member 1; serpin A1; serpin peptidase inhibitor clade A (alpha-1antiproteinase, antitrypsin) member 1; serpin peptidase inhibitor clade A member 1; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1", "tax_id": 9606, "disease": "chemical colitis (Disease Ontology:DOID:0060186); ileitis (Disease Ontology:DOID:0060189); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372); pancreatic cancer (Disease Ontology:DOID:1793); arteriosclerosis (Disease Ontology:DOID:2349); asthma (Disease Ontology:DOID:2841); acute pancreatitis (Disease Ontology:DOID:2913); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); liver disease (Disease Ontology:DOID:409); primary hyperaldosteronism (Disease Ontology:DOID:446); pancreatitis (Disease Ontology:DOID:4989); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); proteinuria (Disease Ontology:DOID:576); pulmonary hypertension (Disease Ontology:DOID:6432); osteoarthritis (Disease Ontology:DOID:8398); colorectal cancer (Disease Ontology:DOID:9256); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:5265); (R-HSA-114608); (R-HSA-204005); (R-HSA-381426); (R-HSA-5694530); (R-HSA-6798695); (R-HSA-8957275)", "pathway_count": 7, "publication_count": 279, "publication_id_list": "37639587;10026136;10077652;10218588;10445031;10512690;10559958;10559959;10612848;10614670;10651487;10652252;10679020;10681634;10716194;10747087;10788476;10810289;10825291;10898936;10903204;10912521;10933492;10951195;10982397;10990447;11035026;11057674;11158056;11178897;11237011;11250653;11264294;11285137;11306556;11316783;11522292;11606061;11739083;11751371;11788658;11927603;12070132;12235121;12237308;12241545;12244055;12379487;12466191;12754519;12810533;12860985;12904166;1370451;1383255;1406456;1435334;14630798;14760718;15037235;15084671;15126567;15297306;15308688;15469690;15485880;15525596;15642270;1608473;16129679;16263699;16303754;16335952;16495487;16622833;16624868;16912714;17005010;17010120;17038314;17047378;17192411;17249697;17287728;17312271;17316621;17499046;17562788;17607000;17650587;17684057;17975675;17985932;18025080;18283111;18287528;18514042;18566446;1859394;18843296;1905728;1906855;19117535;19139490;19159218;19164740;19265014;19269366;19566487;19638414;19656848;1967187;19838169;20068231;2016749;2035534;20427317;20477988;20533886;20545907;20679433;20805473;20966969;21081667;21459797;21478858;21525241;21532587;21689688;21878990;22013193;22157747;22171320;2227940;2254451;22675024;23090970;2309708;2316526;23378591;2339709;23479643;23640497;23650620;23698585;23719902;23826168;23852824;23864707;2390072;2394452;24119662;24190977;24275569;24279413;24417605;24530628;2476804;2479552;24841998;24917561;25181470;25202031;25406594;25492864;25586378;25619252;25619253;2606478;26091039;2669992;26791533;26797521;26992070;27452731;27726376;2784123;2785270;2786335;28832583;2901226;29351928;29391424;29405331;29427759;29493099;29557506;29632711;29671580;29741879;29789417;2985281;30237853;30429286;30459171;31142615;31358993;31844290;32125861;32157095;32350084;3262617;32983136;33043033;33091337;33123756;33889819;34171305;34357683;34725484;3491072;34932366;35051231;35154160;35318648;3533918;35580925;36215666;36284347;37074911;37938771;38455847;3873938;3876243;39016119;39194420;40596516;6093867;6319097;6332197;6387509;6457647;6604220;6966283;6979715;7031661;7045697;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;7977369;8221884;8323530;8364590;8390218;8467233;8543039;8620540;8663406;8692836;8756325;8781553;8817670;8894645;8939743;8964575;9094723;9150144;9177194;9307973;9395526;9459000;9466920;9472029;9497324;9569237;9647643;9709957;9733769;9786878;9922210", "class_list": "", "function": "Analysis of alpha-1-antitrypsin (AAT)-regulated, glucocorticoid receptor-dependent genes in macrophages reveals a novel host defense function of AAT., [RefSeq, PubMed]; Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin., [UniProtKB]; Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a Lithuanian Cohort of Wheezing Small Children. Publication Status: Online-Only, [RefSeq, PubMed]; Reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin. Its major physiological function is the protection of the lower respiratory tract against proteolytic destruction by human leukocyte elastase (HLE)., [UniProtKB]; The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 3, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 270, "disease_count": 22, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A6PX14;B2RDQ8;Q0PVP5;Q13672;Q53XB8;Q5U0M1;Q7M4R2;Q86U18;Q86U19;Q96BF9;Q96ES1;Q9P1P0;Q9UCE6;Q9UCM3", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006953 acute-phase response;GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 56.1, "record_id": "P01009-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P17787-1", "uniprot_id": "ACHB2_HUMAN", "mass": 57019.0, "length": 502, "protein_name": "Neuronal acetylcholine receptor subunit beta-2", "gene_name": "CHRNB2", "organism": "Human", "refseq_name": "neuronal acetylcholine receptor subunit beta-2 precursor", "refseq_ac": "NP_000739", "gene_names_uniprotkb": "CHRNB2", "gene_names_refseq": "CHRNB2; EFNL3; nAChRB2", "protein_names_uniprotkb": "Neuronal acetylcholine receptor subunit beta-2", "protein_names_refseq": "acetylcholine receptor, nicotinic, beta 2 (neuronal); beta2 human neuronal nicotinic acetylcholine receptor; cholinergic receptor, nicotinic beta 2; cholinergic receptor, nicotinic, beta 2 (neuronal); cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal); neuronal acetylcholine receptor subunit beta-2 precursor; neuronal acetylcholine receptor subunit beta-2; neuronal nicotinic acetylcholine receptor beta 2", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal dominant nocturnal frontal lobe epilepsy (Disease Ontology:DOID:0060681); autosomal dominant nocturnal frontal lobe epilepsy 3 (Disease Ontology:DOID:0060684); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); alcohol use disorder (Disease Ontology:DOID:1574); congenital myasthenic syndrome (Disease Ontology:DOID:3635)", "pathway": " (hsa:1141); (R-HSA-629587); (R-HSA-629594); (R-HSA-629597)", "pathway_count": 4, "publication_count": 34, "publication_id_list": "10441742;10945867;11062464;11104662;11118490;11237011;11906688;12527804;12810063;15609996;16120769;16835356;17132685;19059502;20441771;20881005;22361591;2377478;27344019;27493220;27698419;29557506;29720657;31217245;32577853;33239400;33657187;38161283;38454578;8663494;8906617;8987816;9009220;9921897", "class_list": "", "function": "Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (PubMed:22361591, PubMed:27698419, PubMed:29720657, PubMed:38454578). CHRNB2 forms heteropentameric neuronal acetylcholine receptors with CHRNA2, CHRNA3, CHRNA4 and CHRNA6, as well as CHRNA5 and CHRNB3 as accesory subunits (PubMed:16835356, PubMed:20881005, PubMed:22361591, PubMed:27698419, PubMed:29720657, PubMed:38454578, PubMed:8663494). Found in two major stoichiometric forms,(CHRNA4)3:(CHRNB2)2 and (CHRNA4)2:(CHRNB2)3, the two stoichiometric forms differ in their unitary conductance, calcium permeability, ACh sensitivity and potentiation by divalent cation (PubMed:27698419, PubMed:29720657, PubMed:38454578). Heteropentameric channels with CHRNA6 and CHRNA4 exhibit high sensitivity to ACh and nicotine and are predominantly expressed in only a few brain areas, including dopaminergic neurons, norepirephrine neurons and cells of the visual system. nAChrs containing CHRNA6 subunits mediate endogenous cholinergic modulation of dopamine and gamma-aminobutyric acid (GABA) release in response to nicotine at nerve terminals (By similarity). Also forms functional nAChRs with other subunits such as CHRNA7:CHRNB2, mainly expressed in basal forebrain cholinergic neurons (PubMed:33239400, PubMed:38161283)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]., [RefSeq]; Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of alpha4beta2- nicotinic acetylcholine receptor intracellular structures. Publication Status: Online-Only, [RefSeq, PubMed]; The alpha7 and beta2 nicotinic acetylcholine receptor subunits regulate apoptosis in the infant hippocampus, and in sudden infant death syndrome (SIDS)., [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": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q9UEH9", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0015276 ligand-gated monoatomic ion channel activity;GO:0015464 acetylcholine receptor activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:0042166 acetylcholine binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0016020 membrane;GO:0044853 plasma membrane raft;GO:0045202 synapse", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0006939 smooth muscle contraction;GO:0007165 signal transduction;GO:0007271 synaptic transmission, cholinergic;GO:0007612 learning", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "P17787-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86VR2-1", "uniprot_id": "RETR3_HUMAN", "mass": 51396.0, "length": 466, "protein_name": "Reticulophagy regulator 3", "gene_name": "RETREG3", "organism": "Human", "refseq_name": "reticulophagy regulator 3", "refseq_ac": "NP_835227", "gene_names_uniprotkb": "RETREG3; FAM134C", "gene_names_refseq": "FAM134C; RETREG3", "protein_names_uniprotkb": "Reticulophagy regulator 3", "protein_names_refseq": "family with sequence similarity 134 member C; protein FAM134C; reticulophagy regulator 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:162427)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11237011;17016520;17081983;18452278;18578522;18669648;19007248;19413330;19651622;19690332;20068231;21406692;21654843;23186163;23939472;24275569;25502872;25645385;25892735;26040720;26992070;27920218;28228285;28832583;28834231;28855257;29242379;29393594;29557506;29769354;30315122;30429286;31611695;31844290;32157095;32357974;32488085;33298915;33826365;33936100;33968037;34171305;34338405;34357683;34405274;34932366;35051231;35154160;35494241;35580925;36284347;40307207", "class_list": "", "function": "Endoplasmic reticulum (ER)-anchored autophagy regulator which exists in an inactive state under basal conditions but is activated following cellular stress (PubMed:34338405). When activated, induces ER fragmentation and mediates ER delivery into lysosomes through sequestration into autophagosomes via interaction with ATG8 family proteins (PubMed:34338405). Promotes ER membrane curvature and ER tubulation required for subsequent ER fragmentation and engulfment into autophagosomes (PubMed:33826365). Required for collagen quality control in a LIR motif-dependent manner (By similarity). Mediates NRF1-enhanced neurite outgrowth (PubMed:26040720)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; RTN4B interacting protein FAM134C promotes ER membrane curvature and has a functional role in autophagy., [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": 25, "reported_mutagensis": 2, "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": "B3KR75", "ec_number_list": "", "go_molecular_function": "GO:0140506 endoplasmic reticulum-autophagosome adaptor activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0032991 protein-containing complex;GO:0071782 endoplasmic reticulum tubular network", "go_biological_process": "GO:0071786 endoplasmic reticulum tubular network organization;GO:0010976 positive regulation of neuron projection development;GO:0061709 reticulophagy", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q86VR2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P11310-1", "uniprot_id": "ACADM_HUMAN", "mass": 46588.0, "length": 421, "protein_name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial", "gene_name": "ACADM", "organism": "Human", "refseq_name": "medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor", "refseq_ac": "NP_000007", "gene_names_uniprotkb": "ACADM", "gene_names_refseq": "ACAD1; ACADM; MCADH; MCAD", "protein_names_uniprotkb": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial; 1.3.8.7; MCADH; MCAD; Medium chain acyl-CoA dehydrogenase", "protein_names_refseq": "acyl-CoA dehydrogenase, C-4 to C-12 straight chain; acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain; medium-chain acyl-CoA dehydrogenase; medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor; medium-chain specific acyl-CoA dehydrogenase, mitochondrial; testicular tissue protein Li 7", "tax_id": 9606, "disease": "medium chain acyl-CoA dehydrogenase deficiency (Disease Ontology:DOID:0080153); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208)", "pathway": " (hsa:34); (R-HSA-1989781); (R-HSA-77288); (R-HSA-77346); (R-HSA-77348)", "pathway_count": 5, "publication_count": 108, "publication_id_list": "10767181;10777541;11237011;11267664;11349232;11409868;11486912;12118000;12177166;12505311;12582161;12654921;13295225;13295248;1363805;15067378;15130092;15159392;1550553;15635043;15975918;16020546;16380219;1671131;1684086;16959974;16972786;1731887;17564966;18479707;18540824;18719978;18848529;1902818;19088433;19608861;1970566;19710929;19934321;20110263;21237683;2251268;22706990;2393404;2394825;24121500;24196956;25416781;26992070;27846572;27920218;28218747;28228285;28510447;28832583;28904123;29242379;29437277;29557506;29632046;30315122;3035565;31020640;31217245;31844290;32119511;32157095;32350084;32357974;32387766;32502341;32938616;33141586;33298915;33465208;33592498;33717175;33912179;33968037;34078123;34229054;34357683;34561969;35008409;35051231;35154160;35251023;35561310;3597357;36010968;36215666;37950149;38665916;40596516;40914422;7603790;7685352;7892212;7929823;8198141;8647822;8687463;8823175;8823176;9012850;9158144;9748239;9882619", "class_list": "", "function": "Medium-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation (FAO), breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats. The first step of FAO consists in the proR-proR stereospecific alpha, beta-dehydrogenation of fatty acyl-CoA thioesters using the electron transfer flavoprotein (ETF) as their physiologic electron acceptor, resulting in the formation of trans-2-enoyl-CoA ((2E)-enoyl-CoA). ETF is the electron acceptor that transfers electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase). Among the different mitochondrial acyl-CoA dehydrogenases, medium-chain specific acyl-CoA dehydrogenase has preference for fatty acyl-CoAs with saturated 6 to 12 carbons long primary chains, making it but can also catalyze longer chains such as C14 and C16., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Role of PPAR-related genes in chronic heart failure: evidence from large populations. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 13, "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": "Q5T4U4;Q9NYF1", "ec_number_list": "1.3.8.7;1.3.8.1;1.3.8.4;1.3.8.8;1.3.8.5;1.3.8.9;2.3.1.48;3.6.4.-;2.1.1.319;2.3.1.-;2.1.1.-;3.1.13.1;5.6.2.6;3.6.4.13", "go_molecular_function": "GO:0003995 acyl-CoA dehydrogenase activity;GO:0042802 identical protein binding;GO:0050660 flavin adenine dinucleotide binding;GO:0070991 medium-chain fatty acyl-CoA dehydrogenase activity;GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0030424 axon", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase;GO:0051791 medium-chain fatty acid metabolic process;GO:0019254 carnitine metabolic process, CoA-linked;GO:0045329 carnitine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "P11310-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96JY6-1", "uniprot_id": "PDLI2_HUMAN", "mass": 37459.0, "length": 352, "protein_name": "PDZ and LIM domain protein 2", "gene_name": "PDLIM2", "organism": "Human", "refseq_name": "PDZ and LIM domain protein 2 isoform 2", "refseq_ac": "NP_067643", "gene_names_uniprotkb": "PDLIM2; PP6345", "gene_names_refseq": "MYSTIQUE; PDLIM2; SLIM", "protein_names_uniprotkb": "PDZ and LIM domain protein 2; PDZ-LIM protein mystique", "protein_names_refseq": "PDZ and LIM domain protein 2 isoform 2; PDZ and LIM domain protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64236)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11214971;11237011;15498874;15659642;17468759;19052146;19690332;19794962;20185823;24275569;25576301;25880248;26154972;26375851;27600516;27862975;28832583;29242379;29351928;29493099;29557506;29632711;29786170;30429286;31373491;31844290;32157095;32350084;32502341;32897882;32938616;32938750;32983136;33298915;33592498;33912179;34019948;35051231;35132862;35254053;35580925;35705054;35707002;36284347;37170668;37938771;38665916;38880883;40307207", "class_list": "", "function": "Data show that the PDLIM2 repression was independent of the viral regulatory protein Tax because neither short-term induction nor long-term stable expression of Tax could downregulate PDLIM2 expression., [RefSeq, PubMed]; High Expression of PDLIM2 Predicts a Poor Prognosis in Prostate Cancer and Is Correlated with Epithelial-Mesenchymal Transition and Immune Cell Infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of Mystique 2 with small interfering RNA abrogated both adhesion and migration in MCF10A and MCF-7 cells, [RefSeq, PubMed]; PDLIM2 can inactivate the TGF-beta/Smad pathway to inhibit the malignant behavior of ovarian cancer cells., [RefSeq, PubMed]; PDLIM2 deficiency resulted in larger amounts of nuclear p65, defective p65 ubiquitination and augmented production of proinflammatory cytokines in response to innate stimuli, [RefSeq, PubMed]; PDLIM2, an essential terminator of NF-kappaB activation, is repressed in both estrogen receptor-positive and estrogen receptor-negative breast cancer cells, suggesting one important mechanism for the constitutive activation of NF-kappaB., [RefSeq, PubMed]; Probable adapter protein located at the actin cytoskeleton that promotes cell attachment. Necessary for the migratory capacity of epithelial cells. Overexpression enhances cell adhesion to collagen and fibronectin and suppresses anchorage independent growth. May contribute to tumor cell migratory capacity., [UniProtKB, PubMed]; Suppression of PDLIM2 expression resulted in decreased cell adhesion, increased NF-kappaB transcription reporter activity, and increased LPS-induced TNF-alpha production., [RefSeq, PubMed]; This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; Tumor promoting effect of PDLIM2 downregulation involves mitochondrial ROS, oncometabolite accumulations and HIF-1alpha activation. 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": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "D3DSR5;J3KNH4;Q7Z584;Q86WM8;Q8WZ29;Q9H4L9;Q9H7I2", "ec_number_list": "", "go_molecular_function": "GO:0051371 muscle alpha-actinin binding;GO:0003779 actin binding;GO:0046872 metal ion binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005912 adherens junction;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton;GO:0001725 stress fiber", "go_biological_process": "GO:0007507 heart development;GO:0030036 actin cytoskeleton organization;GO:0030163 protein catabolic process;GO:0061061 muscle structure development", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q96JY6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60239-1", "uniprot_id": "3BP5_HUMAN", "mass": 50425.0, "length": 455, "protein_name": "SH3 domain-binding protein 5", "gene_name": "SH3BP5", "organism": "Human", "refseq_name": "SH3 domain-binding protein 5 isoform b", "refseq_ac": "NP_001018009", "gene_names_uniprotkb": "SH3BP5; SAB", "gene_names_refseq": "SAB; SH3BP-5; SH3BP5", "protein_names_uniprotkb": "SH3 domain-binding protein 5; SH3 domain-binding protein that preferentially associates with BTK; SH3BP-5", "protein_names_refseq": "SH3 domain-binding protein 5 isoform b; SH3 domain-binding protein that preferentially associates with BTK; SH3-domain binding protein 5 (BTK-associated)", "tax_id": 9606, "disease": "", "pathway": " (hsa:9467)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10339589;11237011;12167088;15158451;16964243;18669648;19413330;20068231;23186163;25469497;25576301;25645385;26506309;26992070;27846572;27862975;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29632711;29786170;30217979;30429286;30524438;31844290;32066809;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33592498;33691108;33717175;33936100;33981976;34128958;34509645;34783986;34932366;35051231;35318648;35580925;36010968;36241641;38141906;9571151", "class_list": "", "function": "Functions as a guanine nucleotide exchange factor (GEF) with specificity for RAB11A and RAB25 (PubMed:26506309, PubMed:30217979). Inhibits the auto- and transphosphorylation activity of BTK. Plays a negative regulatory role in BTK-related cytoplasmic signaling in B-cells. May be involved in BCR-induced apoptotic cell death., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Functions as guanine nucleotide exchange factor (GEF) for RAB11A., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; METTL3 suppresses invasion of lung cancer via SH3BP5 m6A modification., [RefSeq, PubMed]; Mitochondrial protein Sab is phosphorylated by stress-activated protein kinase 3, [RefSeq, PubMed]; Novel blood-based hypomethylation of SH3BP5 is associated with very early-stage lung adenocarcinoma., [RefSeq, PubMed]; Tankyrase regulates epithelial lumen formation via suppression of Rab11 GEFs., [RefSeq, PubMed]; Trans-Fatty acids facilitate DNA damage-induced apoptosis through the mitochondrial JNK-Sab-ROS positive feedback loop. 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": 9, "reported_mutagensis": 6, "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": "B3KQW6;Q5JWV9", "ec_number_list": "", "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0004860 protein kinase inhibitor activity;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0030659 cytoplasmic vesicle membrane;GO:0016604 nuclear body", "go_biological_process": "GO:0007165 signal transduction;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "O60239-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86UW9-1", "uniprot_id": "DTX2_HUMAN", "mass": 67246.0, "length": 622, "protein_name": "Probable E3 ubiquitin-protein ligase DTX2", "gene_name": "DTX2", "organism": "Human", "refseq_name": "probable E3 ubiquitin-protein ligase DTX2 isoform a", "refseq_ac": "NP_001096064", "gene_names_uniprotkb": "DTX2; KIAA1528; RNF58", "gene_names_refseq": "DTX2; RNF58", "protein_names_uniprotkb": "Probable E3 ubiquitin-protein ligase DTX2; 2.3.2.27; Deltex2; Protein deltex-2; RING finger protein 58; RING-type E3 ubiquitin transferase DTX2; hDTX2", "protein_names_refseq": "RING-type E3 ubiquitin transferase DTX2; deltex 2, E3 ubiquitin ligase; deltex homolog 2; deltex2; hDTX2; probable E3 ubiquitin-protein ligase DTX2 isoform a; probable E3 ubiquitin-protein ligase DTX2; protein deltex-2; ring finger protein 58; zinc ion binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:113878); (R-HSA-2122948)", "pathway_count": 2, "publication_count": 102, "publication_id_list": "10.1101/2023.09.13.557529;10206645;10879540;10882063;11006133;11226752;11237011;11564735;11740940;12209127;12354787;12530964;12670957;14567914;15574878;15652348;15760269;15824097;15829515;15965470;16093323;16284625;17003037;17028573;17401372;18043734;18077452;18083107;18237417;18296446;18628966;18669648;18700817;18824583;18824585;19000840;19151708;19524514;19567869;19608861;19726682;22162134;24129315;25576301;25880248;26811146;28218747;28228285;28467828;28904123;29242379;29393594;29437277;29557506;29632046;30315122;30429286;30779550;31092671;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32937373;32938616;32983136;33298915;33392160;33633747;33912179;33968037;33981976;34019948;34357683;34561969;35051231;35198878;35580925;36010968;36241641;36284347;37087577;38992439;39661064;40136647;40681873;41772062;8313469;8760827;9244301;9315665;9462510;9590294;9604939;9620803;9651681;9819428", "class_list": "", "function": "DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]., [RefSeq]; E3 ubiquitin ligase that conjugates ubiquitin to ADP-ribosylated cysteine residues, independently of lysine side chains or free N-termini (PubMed:40681873). For example, PARP7 generates an ADP-ribosyl degron within the DNA-binding domain of the androgen receptor (AR), which is recognized by DTX2 and targeted for proteasomal degradation (PubMed:40681873). Functions in genome stability maintenance by acting as an ADP-ribosylation-dependent regulator of DNA double-strand break repair (PubMed:38992439). Mechanistically, recognizes PARylated substrates generated in response to DNA damage and promotes their ubiquitination via its RING and DTC domains (PubMed:38992439). Also regulates additional cellular pathways through ubiquitination of specific substrates. Acts as an E3 ubiquitin ligase for RNA demethylase FTO, promoting its ubiquitination and proteasomal degradation (PubMed:39661064). In turn, regulates antitumor immune responses (PubMed:39661064). Promotes 'Lys-27'-linked ubiquitination of TFRC, thereby modulating iron metabolism and inhibiting ferroptosis (PubMed:41772062). In addition, promotes transcription of telomerase reverse transcriptase by mediating 'Lys-63'-linked ubiquitination of nuclear factor 1 C-type (NFIC) that stabilizes its binding on hTERT promoter (PubMed:35198878)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; It is reported that BBAP and the human family of DTX proteins (DTX1, DTX2, and DTX3) function as E3 ligases based on their capacity for self-ubiquitination., [RefSeq, PubMed]; [DTX2 overexpression promotes migration and invasion of colorectal cancer cells through the Notch2/Akt axis]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 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": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 23, "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": "Q4ZH49;Q6XM87;Q6XM88;Q96H69;Q9H890;Q9P200", "ec_number_list": "3.4.23.-;2.3.2.27;2.3.2.26", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0031965 nuclear membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0007219 Notch signaling pathway;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q86UW9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P40692-1", "uniprot_id": "MLH1_HUMAN", "mass": 84601.0, "length": 756, "protein_name": "DNA mismatch repair protein Mlh1", "gene_name": "MLH1", "organism": "Human", "refseq_name": "DNA mismatch repair protein Mlh1 isoform 1", "refseq_ac": "NP_000240", "gene_names_uniprotkb": "MLH1; COCA2", "gene_names_refseq": "COCA2; FCC2; HNPCC2; HNPCC; LYNCH2; MLH-1; MLH1; MMRCS1; hMLH1", "protein_names_uniprotkb": "DNA mismatch repair protein Mlh1; MutL protein homolog 1", "protein_names_refseq": "DNA mismatch repair protein Mlh1 isoform 1; DNA mismatch repair protein Mlh1; mutL homolog 1, colon cancer, nonpolyposis type 2", "tax_id": 9606, "disease": "Muir-Torre syndrome (Disease Ontology:DOID:0050465); hereditary nonpolyposis colorectal cancer type 2 (Disease Ontology:DOID:0070274); mismatch repair cancer syndrome (Disease Ontology:DOID:0112182); urinary bladder cancer (Disease Ontology:DOID:11054); lung cancer (Disease Ontology:DOID:1324); endometrial cancer (Disease Ontology:DOID:1380); colon cancer (Disease Ontology:DOID:219); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); Lynch syndrome (Disease Ontology:DOID:3883); lung carcinoma (Disease Ontology:DOID:3905); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); primary ovarian insufficiency (Disease Ontology:DOID:5426); malignant pleural mesothelioma (Disease Ontology:DOID:7474); sporadic breast cancer (Disease Ontology:DOID:8029); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:4292); (R-HSA-5358565); (R-HSA-5358606); (R-HSA-5545483); (R-HSA-5632987); (R-HSA-6796648); (R-HSA-912446)", "pathway_count": 7, "publication_count": 308, "publication_id_list": "10.1101/2023.09.13.557529;10029069;10037723;10078208;10097147;10323887;10375096;10386556;10413423;10438626;10473346;10480359;10562567;10573010;10598809;10627141;10660333;10660545;10671064;10713887;10728666;10734115;10751526;10777691;10783165;10882759;10928988;10938287;10984493;11005803;11139242;11237011;11274057;11292842;11350971;11369138;11389087;11427529;11429708;11441019;11555625;11698410;11726306;11748856;11754112;11781295;11793442;11809771;11809883;11839723;11870161;11884592;11971958;11988847;12095971;12115348;12132870;12200596;12362047;12373605;12414623;12655562;12655564;12658575;12930688;14504054;14635101;14636568;14676842;14961575;15064764;15139004;15164066;15184898;15225546;15304223;15365995;15365996;15769334;15781865;15864295;15991064;16083711;16123081;16143102;16188885;16292313;16322221;16451135;16464020;16793375;16855289;16873053;16873062;16963262;17301300;17426132;17440981;17510385;17531815;17541404;17870204;17965729;17977839;17981954;17984070;18033691;18157157;18206974;18256600;18326858;18523027;18535008;18561205;18669648;18701435;19228687;19419416;19690332;20020535;20044539;20044541;20062530;20068231;20154325;20160730;20571119;20603073;20713735;20818382;20970388;21120944;21406692;21475916;21496642;21561855;21864706;21937421;22012619;22118461;22136435;22179786;22223895;22277660;22424782;22740958;22753075;22988298;23065663;23186163;23391514;23481700;23622243;23840062;24275569;24554720;24595079;24662513;24714562;25418920;25429106;25435955;25561469;25576301;25645385;25712099;25823662;25892735;26249686;26300262;26375851;26728094;26992070;27173243;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28411811;2842325;28446606;28494185;28514659;28832583;28834231;28904123;29175432;29242379;29331515;29393594;29493099;29508533;29557506;29608566;29632046;29786170;3004351;30059200;30136313;30315122;30379171;30429286;30484775;30524438;30770470;30779550;30833945;31154438;31217245;31530632;31570444;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33968037;34087483;34171305;34185709;34509645;34561969;34932366;35051231;35132862;35561310;35580925;36010968;36215666;36241641;36284347;38838015;38874740;38964504;39032648;39168847;40307207;40596516;40914422;7661930;7757073;7812952;8128251;8145827;8505312;8521398;8566964;8571956;8574961;8609062;8751876;8797773;8805365;8872463;8929543;8993976;9008167;9032648;9048925;9063748;9067757;9087566;9099749;9218993;9259192;9272156;9294177;9298827;9311737;9311981;9326924;9399661;9428522;9430682;9450758;9469823;9526167;9559627;9611074;9677427;9718327;9758868;9781043;9822680;9826763;9833759;9882630;9927034", "class_list": "", "function": "Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; MLH1 Inhibits Metastatic Potential of Pancreatic Ductal Adenocarcinoma via Downregulation of GPRC5C., [RefSeq, PubMed]; The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]., [RefSeq]; Unmasking early colorectal cancer clues: in silico and in vitro investigation of downregulated IGF2, SOCS1, MLH1, and CACNA1G in SSA polyps. Publication Status: Online-Only, [RefSeq, PubMed]; [Analysis of gene mutation in a family with Muir-Torre syndrome accompanied with extraorbital cystic sebaceous carcinoma]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 5, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 113, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 2, "disease_count": 18, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4DI13;B4DQ11;E9PCU2", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0008047 enzyme activator activity;GO:0019899 enzyme binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005712 chiasma;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0001673 male germ cell nucleus", "go_biological_process": "GO:0000710 meiotic mismatch repair;GO:0006298 mismatch repair;GO:0016446 somatic hypermutation of immunoglobulin genes;GO:0048304 positive regulation of isotype switching to IgG isotypes;GO:0048298 positive regulation of isotype switching to IgA isotypes", "synthesized_glycan_count": 0, "hit_score": 31.6, "record_id": "P40692-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96B36-1", "uniprot_id": "AKTS1_HUMAN", "mass": 27383.0, "length": 256, "protein_name": "Proline-rich AKT1 substrate 1", "gene_name": "AKT1S1", "organism": "Human", "refseq_name": "proline-rich AKT1 substrate 1 isoform b", "refseq_ac": "NP_001092102", "gene_names_uniprotkb": "AKT1S1; PRAS40", "gene_names_refseq": "AKT1S1; Lobe; PRAS40", "protein_names_uniprotkb": "Proline-rich AKT1 substrate 1; 40 kDa proline-rich AKT substrate", "protein_names_refseq": "40 kDa proline-rich AKT substrate; AKT1 substrate 1 (proline rich); proline-rich AKT1 substrate 1 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:84335); (R-HSA-165159); (R-HSA-166208); (R-HSA-198323); (R-HSA-3371571); (R-HSA-5674400)", "pathway_count": 6, "publication_count": 139, "publication_id_list": "10.1101/2023.09.13.557529;10102273;10358075;10485710;10490848;10654941;11231573;11237011;11274386;11447121;11504915;11715018;12150915;12150926;12151408;12172553;12244303;12524439;12668767;12742462;12767043;14617782;15169778;15183529;15270074;15314020;15527798;15755954;15760475;15809305;16174443;16272144;17081983;1715244;17216044;17277771;17287340;17386266;17510057;17517883;17611497;18030348;18212344;18215133;18256540;18372248;18452278;18497260;18669648;18707149;18767875;18954143;19276681;19413330;19415658;19644473;19651622;19664995;19690332;19835147;20068231;20145103;20166139;20230923;20381137;20440266;20484410;20489726;20686178;21406692;21592956;21602892;21698202;21949786;22025163;22768106;22879939;22980980;23029019;23186163;23415227;23481700;24129315;24275569;24316235;24366607;24701227;24704832;25136826;25311616;25561175;25567906;25876175;25961827;25963655;26154972;26183061;26497682;26876154;28071670;28218747;28303961;28674187;28832583;29236692;29437277;29634919;29786170;30315122;30429286;30666556;31373491;31404327;31601764;31813279;31844290;31848261;31910234;31920959;32157095;32488085;32502341;32938616;33298915;33968037;34087483;35051231;35058442;36010968;38665916;39894887;8455624;9346240;9381178;9478990;9721431;9812896;9829964;9895304", "class_list": "", "function": "AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008]., [RefSeq]; Negative regulator of the mechanistic target of rapamycin complex 1 (mTORC1), an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:17277771, PubMed:17386266, PubMed:17510057, PubMed:29236692). In absence of insulin and nutrients, AKT1S1 associates with the mTORC1 complex and directly inhibits mTORC1 activity by blocking the MTOR substrate-recruitment site (PubMed:29236692). In response to insulin and nutrients, AKT1S1 dissociates from mTORC1 (PubMed:17386266, PubMed:18372248). Its activity is dependent on its phosphorylation state and binding to 14-3-3 (PubMed:16174443, PubMed:18372248). May also play a role in nerve growth factor-mediated neuroprotection (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; PGK1 represses autophagy-mediated cell death to promote the proliferation of liver cancer cells by phosphorylating PRAS40. 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": 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": 19, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8MTQ1;B2RE93;J3KPM3;Q96BI4;Q96IK7;Q96NG2;Q9BWR5", "ec_number_list": "", "go_molecular_function": "GO:0004860 protein kinase inhibitor activity;GO:0030291 protein serine/threonine kinase inhibitor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031931 TORC1 complex", "go_biological_process": "GO:0006469 negative regulation of protein kinase activity;GO:0032007 negative regulation of TOR signaling;GO:0042981 regulation of apoptotic process;GO:0043523 regulation of neuron apoptotic process;GO:0045792 negative regulation of cell size", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q96B36-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P00352-1", "uniprot_id": "AL1A1_HUMAN", "mass": 54862.0, "length": 501, "protein_name": "Aldehyde dehydrogenase 1A1", "gene_name": "ALDH1A1", "organism": "Human", "refseq_name": "aldehyde dehydrogenase 1A1", "refseq_ac": "NP_000680", "gene_names_uniprotkb": "ALDH1A1; ALDC; ALDH1; PUMB1", "gene_names_refseq": "ALDC; ALDH-E1; ALDH11; ALDH1A1; ALDH1; HEL-9; HEL-S-53e; HEL12; PUMB1; RALDH1", "protein_names_uniprotkb": "Aldehyde dehydrogenase 1A1; 1.2.1.19; 1.2.1.28; 1.2.1.36; 1.2.1.3; 3-deoxyglucosone dehydrogenase; ALDH-E1; ALHDII; Aldehyde dehydrogenase family 1 member A1; Aldehyde dehydrogenase, cytosolic; RALDH 1; RalDH1; Retinal dehydrogenase 1", "protein_names_refseq": "3-deoxyglucosone dehydrogenase; ALDH class 1; ALHDII; RALDH 1; acetaldehyde dehydrogenase 1; aldehyde dehydrogenase 1, soluble; aldehyde dehydrogenase 1A1; aldehyde dehydrogenase, liver cytosolic; epididymis luminal protein 12; epididymis luminal protein 9; epididymis secretory sperm binding protein Li 53e; retinal dehydrogenase 1; retinaldehyde dehydrogenase 1", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); pancreatic cancer (Disease Ontology:DOID:1793); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:216); (R-HSA-5365859); (R-HSA-70350); (R-HSA-71384); (R-HSA-9927418); (R-HSA-9927432); (R-HSA-9938206)", "pathway_count": 7, "publication_count": 126, "publication_id_list": "10329026;10369264;10441588;10631996;10697413;10839978;10843999;11007799;11237011;11245473;11679716;12036956;12226107;12680773;12941160;12941785;13093749;14532297;14596915;15623782;16266770;16289032;16753811;16788062;17175089;1755855;18039331;18196;18805086;1889753;18984734;19237742;19296407;19608861;1985938;20068231;20166139;20616185;20801113;20841500;20949620;21529158;21621639;21851338;22019272;22098443;22223895;22371574;224930;23220587;23444097;24275569;24289155;24569995;2537226;25413692;25450233;25634381;25880248;2591967;26373694;26853435;270680;27452731;27600516;2776714;27862975;28193222;2935875;29557506;2987944;3013304;30377573;30397120;30410026;30429286;30905621;31844290;31848261;32157095;32350084;32357974;32387766;32488085;3278908;32983136;33141586;33298915;33495566;33592498;3365377;33968037;34171305;34357683;35051231;35098344;35580925;36284347;3676276;37938771;38400679;38704506;38849477;39107297;39128802;4015823;4065146;427099;4504607;4688871;4748759;5353106;5777313;6395883;6723659;7833921;805723;8074657;8214422;8493914;8535439;9228021;9610797;9677409;9705317;9982", "class_list": "", "function": "ALDH1A1 promotes immune escape of tumor cells through ZBTB7B-glycolysis pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Are embryonic stem cell markers and ALDH1A1 relevant in the context of breast cancer estrogen positivity? Erratum:[Cancer Med. 2024 Apr;13(8):e7171. doi: 10.1002/cam4.7171. PMID: 38629223], [RefSeq, PubMed]; Associations of stem cell markers CD44, CD24 and ALDH1A1 with mammographic breast density in women with benign breast biopsies., [RefSeq, PubMed]; Autism patient-derived SHANK2B[Y29X] mutation affects the development of ALDH1A1 negative dopamine neuron., [RefSeq, PubMed]; Cytosolic dehydrogenase that catalyzes the irreversible oxidation of a wide range of aldehydes to their corresponding carboxylic acid (PubMed:12941160, PubMed:15623782, PubMed:17175089, PubMed:19296407, PubMed:25450233, PubMed:26373694, PubMed:25413692). Functions downstream of retinol dehydrogenases and catalyzes the oxidation of retinaldehyde into retinoic acid, the second step in the oxidation of retinol/vitamin A into retinoic acid (PubMed:25413692). This pathway is crucial to control the levels of retinol and retinoic acid, two important molecules which excess can be teratogenic and cytotoxic (PubMed:25413692). Also oxidizes aldehydes resulting from lipid peroxidation like (E)-4-hydroxynon-2-enal/HNE, malonaldehyde and hexanal that form protein adducts and are highly cytotoxic. By participating for instance to the clearance of (E)-4-hydroxynon-2-enal/HNE in the lens epithelium prevents the formation of HNE-protein adducts and lens opacification (PubMed:12941160, PubMed:15623782, PubMed:19296407). Also functions downstream of fructosamine-3-kinase in the fructosamine degradation pathway by catalyzing the oxidation of 3-deoxyglucosone, the carbohydrate product of fructosamine 3-phosphate decomposition, which is itself a potent glycating agent that may react with lysine and arginine side-chains of proteins (PubMed:17175089). Also has an aminobutyraldehyde dehydrogenase activity and is probably part of an alternative pathway for the biosynthesis of GABA/4-aminobutanoate in midbrain, thereby playing a role in GABAergic synaptic transmission (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]., [RefSeq]; The role of ALDH1A1 in glioblastoma proliferation and invasion., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "reported_glycation": 0, "reported_snv": 10, "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": "O00768;Q5SYR1", "ec_number_list": "1.2.1.36;1.2.1.19;1.2.1.3;1.2.1.28;2.7.10.1;3.4.24.11;1.7.1.-;1.2.1.5;1.2.1.7;1.2.1.48;1.2.1.47;1.2.1.46;1.2.1.31;1.2.1.8;1.2.1.94;3.6.4.-;1.1.1.-;1.1.1.62;1.1.1.105", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0051287 NAD binding;GO:0001758 retinal dehydrogenase (NAD+) activity;GO:0004029 aldehyde dehydrogenase (NAD+) activity;GO:0005497 androgen binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030424 axon;GO:0045202 synapse;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0006081 aldehyde metabolic process;GO:0042572 retinol metabolic process;GO:0036438 maintenance of lens transparency;GO:0009449 gamma-aminobutyric acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "P00352-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15941-1", "uniprot_id": "MUC1_HUMAN", "mass": 122102.0, "length": 1255, "protein_name": "Mucin-1", "gene_name": "MUC1", "organism": "Human", "refseq_name": "mucin-1 isoform 10 precursor", "refseq_ac": "NP_001191215", "gene_names_uniprotkb": "MUC1; PUM", "gene_names_refseq": "ADMCKD1; ADMCKD; ADTKD2; CA 15-3; CD227; Ca15-3; EMA; H23AG; KL-6; MAM6; MCD; MCKD1; MCKD; MUC-1/SEC; MUC-1/X; MUC-1; MUC1/ZD; MUC1; PEMT; PEM; PUM", "protein_names_uniprotkb": "Mucin-1; Breast carcinoma-associated antigen DF3; CA 15-3; Cancer antigen 15-3; Carcinoma-associated mucin; EMA; Episialin; H23AG; KL-6; Krebs von den Lungen-6; MUC-1; MUC1-CT; PEMT; PEM; PUM; Peanut-reactive urinary mucin; Polymorphic epithelial mucin; Tumor-associated epithelial membrane antigen; Tumor-associated mucin", "protein_names_refseq": "H23 antigen; breast carcinoma-associated antigen DF3; cancer antigen 15-3; carcinoma-associated mucin; episialin; krebs von den Lungen-6; mucin 1, transmembrane; mucin-1 isoform 10 precursor; peanut-reactive urinary mucin; polymorphic epithelial mucin; tumor associated epithelial mucin; tumor-associated epithelial membrane antigen", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); biliary tract benign neoplasm (Disease Ontology:DOID:0050625); obstructive sleep apnea (Disease Ontology:DOID:0050848); autosomal dominant tubulointerstitial kidney disease 2 (Disease Ontology:DOID:0061118); dry eye syndrome (Disease Ontology:DOID:10140); prostate cancer (Disease Ontology:DOID:10283); otitis media (Disease Ontology:DOID:10754); urinary bladder cancer (Disease Ontology:DOID:11054); allergic conjunctivitis (Disease Ontology:DOID:11204); pneumocystosis (Disease Ontology:DOID:11339); adult respiratory distress syndrome (Disease Ontology:DOID:11394); heart disease (Disease Ontology:DOID:114); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); pulmonary sarcoidosis (Disease Ontology:DOID:13406); bird fancier's lung (Disease Ontology:DOID:13891); cystic fibrosis (Disease Ontology:DOID:1485); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); mucinous adenocarcinoma (Disease Ontology:DOID:3030); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); breast adenocarcinoma (Disease Ontology:DOID:3458); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); lung adenocarcinoma (Disease Ontology:DOID:3910); systemic scleroderma (Disease Ontology:DOID:418); renal cell carcinoma (Disease Ontology:DOID:4450); allergic rhinitis (Disease Ontology:DOID:4481); common bile duct neoplasm (Disease Ontology:DOID:4608); cholangiocarcinoma (Disease Ontology:DOID:4947); pneumonia (Disease Ontology:DOID:552); lung disease (Disease Ontology:DOID:850); measles (Disease Ontology:DOID:8622)", "pathway": " (hsa:4582); (R-HSA-5083625); (R-HSA-5083632); (R-HSA-5083636); (R-HSA-5621480); (R-HSA-6785807); (R-HSA-913709); (R-HSA-977068); (R-HSA-9927418); (R-HSA-9927426)", "pathway_count": 10, "publication_count": 252, "publication_id_list": "40667337;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10023775;10197628;10219247;10330415;10369418;10373415;10430883;10504389;10510379;10586089;10742600;10753916;10867011;11042166;11058569;11062056;11084045;11104795;11110698;11118479;11120780;11152665;11173916;11237011;11278437;11278729;11283017;11304796;11341784;11350974;11356008;11404481;11445551;11463377;11483589;11606584;11821425;11877440;11960372;12223527;12242343;12441351;12464682;12600988;12750561;12832402;12832415;12855678;12939402;1329093;14521915;14634100;14656219;14688481;14712222;14766232;15116091;15261459;15466199;15471854;15486459;15513966;15560372;15584925;15599692;15620693;15623537;15687324;15710329;15710907;15805299;15869882;15950906;15969018;15972891;15987679;16007214;16048438;16107692;16151858;16205632;16236134;16251947;16288032;16319059;16397018;16427018;16451196;16507569;16510571;16540365;16585136;16606674;1688329;16888623;16912206;1697589;16983337;17050534;17067310;17113861;17308127;17427945;17458857;17524503;17545600;17572495;18243101;18353781;18447642;18490740;18537974;18644974;18776906;18818202;19124156;19185846;19397496;19617566;20493732;20816948;21102457;2112460;21252155;21689689;21730069;21880719;21937440;21994466;22041900;22046235;22183981;22205702;22383755;22461326;2268309;22693070;22851691;22941036;23053572;23086340;23124025;23172665;23186163;2318825;23396133;23455323;23507963;2351132;23555662;23584533;23602766;2373995;23891555;2394722;23967200;24097101;24643043;24674678;24715725;24743777;25153226;25234944;25395422;25496030;25562322;25813380;2597151;26492414;26498650;26892612;29557506;29741879;30059200;30459171;30484775;30779550;31611695;31727154;32157095;32161166;32350084;32470148;33214551;33665637;3417635;35051231;35132862;35251023;35318648;35504880;35580925;36222123;36241641;36284347;36768214;37280206;38508723;39024979;40596516;40914662;7510216;7512451;7529288;7655172;7664271;7744025;7795521;7796300;7898939;7907877;7925397;7988707;8085155;8333853;8598452;8602263;8604237;8608966;8611500;8621622;8663118;8668165;8797861;8816495;8920913;8969192;8972730;9013879;9042338;9139698;9212228;9295285;9312074;9394011;9417100;9435216;9530955;9536947;9597769;9635576;9651359;9723655;9736340;9819408;9822675;9874564;9915862;9988682", "class_list": "", "function": "Analysis of a novel MUC1 protein isoform MUC1/ZD, which is generated by an alternative splicing event that both deletes the tandem-repeat array and leads to a C-terminal reading frameshift, [RefSeq, PubMed]; TRPV4 activation in human corneal epithelial cells promotes membrane mucin production., [RefSeq, PubMed]; The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack., [UniProtKB]; The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity., [UniProtKB]; This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 4, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 0, "mined_o_glycosites": 4, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 6, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 24, "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": 28, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 12, "reported_phosphosites": 17, "reported_mutagensis": 38, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring; prognostic; ", "glycan_count": 42, "disease_count": 34, "glyco_site_count": 34, "binding_glycan_count": 0, "secondary_ac_list": "A5YRV1;A6ZID9;A6ZIE0;B1AVQ8;B1AVR0;B6ECA1;E7ESE5;E7EUG9;P13931;P15942;P17626;Q0VAP5;Q0VAP6;Q14128;Q14876;Q16437;Q16442;Q16615;Q6S4Y3;Q7Z547;Q7Z548;Q7Z550;Q7Z552;Q9BXA4;Q9UE75;Q9UE76;Q9UQL1;Q9Y4J2", "ec_number_list": "", "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0003712 transcription coregulator activity;GO:0002039 p53 binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0033629 negative regulation of cell adhesion mediated by integrin;GO:0010944 negative regulation of transcription by competitive promoter binding;GO:0030330 DNA damage response, signal transduction by p53 class mediator;GO:1902166 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 32.1, "record_id": "P15941-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05107-1", "uniprot_id": "ITB2_HUMAN", "mass": 84791.0, "length": 769, "protein_name": "Integrin beta-2", "gene_name": "ITGB2", "organism": "Human", "refseq_name": "integrin beta-2 isoform 1 precursor", "refseq_ac": "NP_000202", "gene_names_uniprotkb": "ITGB2; CD18; MFI7", "gene_names_refseq": "CD18; ITGB2; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7", "protein_names_uniprotkb": "Integrin beta-2; Cell surface adhesion glycoproteins LFA-1/CR3/p150,95 subunit beta; Complement receptor C3 subunit beta", "protein_names_refseq": "cell surface adhesion glycoprotein (LFA-1/CR3/P150,959 beta subunit precursor); complement receptor C3 beta-subunit; integrin beta chain, beta 2; integrin beta-2 isoform 1 precursor; integrin beta-2; integrin, beta 2 (complement component 3 receptor 3 and 4 subunit); leukocyte cell adhesion molecule CD18; leukocyte-associated antigens CD18/11A, CD18/11B, CD18/11C", "tax_id": 9606, "disease": "leukocyte adhesion deficiency 1 (Disease Ontology:DOID:0110910); nephritis (Disease Ontology:DOID:10952); Vogt-Koyanagi-Harada disease (Disease Ontology:DOID:12297); cancer (Disease Ontology:DOID:162); Epstein-Barr virus infectious disease (Disease Ontology:DOID:2938); coronary restenosis (Disease Ontology:DOID:4247); allergic rhinitis (Disease Ontology:DOID:4481); pneumonia (Disease Ontology:DOID:552); leukocyte adhesion deficiency (Disease Ontology:DOID:6612); myocarditis (Disease Ontology:DOID:820); psoriasis (Disease Ontology:DOID:8893)", "pathway": " (hsa:3689); (R-HSA-166016); (R-HSA-198933); (R-HSA-202733); (R-HSA-216083); (R-HSA-6785807); (R-HSA-6798695)", "pathway_count": 7, "publication_count": 400, "publication_id_list": "37639587;10.1101/2023.09.13.557529;10023775;10201950;10209034;10219247;10366422;10369418;10438935;10499918;10510379;10543983;10586089;10593924;10605720;10606205;10640428;10673366;10713152;10741396;10746781;10764623;10766246;10811134;10867011;10982388;11058569;11084045;11104795;11120780;11158588;11207550;11237011;11256994;11265639;11274165;11278437;11278729;11356008;11404481;11463377;11466336;11489943;11513152;11518510;11556966;11564780;11572855;11700305;11713259;11779189;11807247;11812992;11857637;11858820;11861603;11955593;11955595;11955599;11960372;11980922;12070135;12208882;12213321;12223527;12242343;12469115;12471095;12483297;12496264;12585966;12588680;12600988;12682293;12782713;12807887;12832402;1346613;1347532;1352501;14529530;14556004;14615387;14634100;14712222;14719373;14722085;14970179;15000751;15034010;15116091;15136729;15155468;15187158;15240572;15261459;15276183;15304001;15330449;15345499;15356110;15383545;15528364;15534202;15541655;15580655;15584925;15596121;15607800;15681301;15713743;15721307;15778510;15781451;15800062;15805299;15851719;15864273;15869882;1588291;15899827;1590804;1591491;15950906;16002701;16007214;16014749;16048438;16051604;16091383;16107692;16129954;16205632;16236134;16239428;16258728;16297198;16301335;16303959;16335952;16339513;16380601;16397018;16451196;16467847;16510571;16540365;16551255;16585556;16606674;16691243;16731529;16737824;16737840;16751103;1675157;16754661;16754721;16757566;1676048;16783819;1683838;16893496;16904340;16928187;16933105;1694220;16985175;17045824;17057721;17064312;17099249;17116209;17167768;17172599;17237375;17322099;17337780;17339034;17379836;17384276;17427945;17442946;17452516;17458857;17505016;17525755;17563375;17572495;17580308;17600130;17615384;17625065;17968485;18031695;18037897;18055229;18209062;18222170;18233961;18234675;18243101;18297073;18353781;18447642;18550856;18587400;18593354;18644974;18710925;18775695;18991276;19124156;19149696;19159218;19185846;19279206;19349973;19359216;19397496;19502598;19592130;1968911;1980124;19828450;20033057;20033473;2010551;20493732;20529581;20549317;20705068;20730098;21102457;21193407;21193412;21241660;21252155;21300897;21659548;21689689;21730069;21800138;21841309;21877119;21937440;21994466;22046235;22078883;22158869;22205702;22383755;22396535;22539938;22693070;22851691;22884367;22990843;23086340;23124025;23172665;23374253;23455323;23555662;23650620;23695528;23775590;23783831;23929856;23945545;23967200;24043627;24097101;24190977;24305946;24385486;2462607;24743777;24764293;2477488;25234944;2538457;25703557;25716998;25825441;26284469;26300885;26728094;26758079;26936951;26992070;27055590;27543614;27920218;28063628;28218747;28228285;28514659;28807980;28832583;28871256;29100055;29242379;29331515;29393594;29508533;2954816;29632046;29632711;29741879;29786170;30001391;3028646;30315122;30524438;30573663;30833945;31154438;31530632;31848261;31937595;31998317;33043033;3537192;37074911;37217939;37938771;38150154;38195629;38554116;39469705;40307207;40914422;468991;6142255;6237120;7143170;7505120;7509040;7509236;7510216;7512451;7521878;7525578;7529288;7531291;7541634;7542249;7542404;7559467;7685013;7686755;7795521;7796300;7898939;7907877;8085155;8118028;8163559;8166770;8178173;8314844;8344274;8560266;8602263;8621622;8663118;8668165;8692836;8777714;8797861;8798654;8816495;8838667;8910476;8995416;9013879;9052782;9169774;9242610;9251239;9285412;9295288;9314561;9382878;9443892;9565552;9651359;9665271;9693095;9700512;9723655;9730896;9736340;9763524;9822675;9841932;9858236;9874564;9884339", "class_list": "glycogene", "function": "Beta2-integrins control HIF1alpha activation in human neutrophils. Publication Status: Online-Only, [RefSeq, PubMed]; ITGB2-ICAM1 axis promotes liver metastasis in BAP1-mutated uveal melanoma with retained hypoxia and ECM signatures., [RefSeq, PubMed]; Integrin ITGAL:ITGB2 is a receptor for ICAM1, ICAM2 and ICAM3 (PubMed:1676048, PubMed:23775590, PubMed:38195629). Integrin ITGAL:ITGB2 is also a receptor for the secreted form of ubiquitin-like protein ISG15; the interaction is mediated by ITGAL (PubMed:29100055). Integrins ITGAM:ITGB2 and ITGAX:ITGB2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin ITGAX:ITGB2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin ITGAM:ITGB2 recognizes P1 and P2 peptides of fibrinogen gamma chain. Integrin ITGAM:ITGB2 is also a receptor for factor X. Integrin ITGAD:ITGB2 is a receptor for ICAM3 and VCAM1 (PubMed:10438935, PubMed:8777714, PubMed:9841932). Contributes to natural killer cell cytotoxicity (PubMed:15356110). Involved in leukocyte adhesion and transmigration of leukocytes including T-cells and neutrophils (PubMed:11812992, PubMed:28807980). Triggers neutrophil transmigration during lung injury through PTK2B/PYK2-mediated activation (PubMed:18587400). Integrin ITGAL:ITGB2 in association with ICAM3, contributes to apoptotic neutrophil phagocytosis by macrophages (PubMed:23775590). In association with alpha subunit ITGAM/CD11b, required for CD177-PRTN3-mediated activation of TNF primed neutrophils (PubMed:21193407). Integrins ITGAX:ITGB2 functions as a receptor of the erythrocyte-specific adhesion molecule ICAM4 and mediates erythrophagocytosis (PubMed:16985175). Integrins ITGAX:ITGB2 functions as a receptor of the neuron-specific adhesion molecule ICAM5 ensuring neuron cell-leukocyte adhesion (PubMed:10741396). Integrin ITGAL:ITGB2 functions as a receptor of ICAM1 by acting as a platform at the immunological synapse to translate TCR engagement and density of the ITGAL ligand ICAM1 into graded adhesion (PubMed:38195629). Integrin ITGAM:ITGB2/MAC-1 complex functions as a signaling receptor for the ligand receptor ICAM1, ensuring adhesion between stimulated neutrophils and stimulated endothelial cells (PubMed:1980124). Integrin ITGAL/ITGB2 that functions as a signaling receptor of ICAM2, ensuring leukocyte cell-cell adhesion on resting cells (PubMed:1676048)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Super-enhancer-driven LIF promotes the mesenchymal transition in glioblastoma by activating ITGB2 signaling feedback in microglia., [RefSeq, PubMed]; This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. 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": 11, "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": 11, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 11, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1057, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 54, "disease_count": 11, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B3KTS8;D3DSM1;Q16418;Q53HS5;Q9UD72", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding;GO:0019901 protein kinase binding;GO:0046872 metal ion binding;GO:0001540 amyloid-beta binding;GO:0031072 heat shock protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0016020 membrane;GO:0035579 specific granule membrane", "go_biological_process": "GO:1904996 positive regulation of leukocyte adhesion to vascular endothelial cell;GO:0001774 microglial cell activation;GO:0006911 phagocytosis, engulfment;GO:0006954 inflammatory response;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 46.8, "record_id": "P05107-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95994-1", "uniprot_id": "AGR2_HUMAN", "mass": 19979.0, "length": 175, "protein_name": "Anterior gradient protein 2 homolog", "gene_name": "AGR2", "organism": "Human", "refseq_name": "anterior gradient protein 2 homolog precursor", "refseq_ac": "NP_006399", "gene_names_uniprotkb": "AGR2; AG2; PRO1030", "gene_names_refseq": "AG-2; AG2; AGR2; GOB-4; HAG-2; HEL-S-116; HPC8; PDIA17; RIFTD; XAG-2", "protein_names_uniprotkb": "Anterior gradient protein 2 homolog; AG-2; HPC8; Secreted cement gland protein XAG-2 homolog; hAG-2", "protein_names_refseq": "anterior gradient homolog 2; anterior gradient protein 2 homolog precursor; anterior gradient protein 2 homolog; epididymis secretory protein Li 116; protein disulfide isomerase family A, member 17; secreted cement gland homolog; secreted cement gland protein XAG-2 homolog", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); respiratory infections, recurrent, and failure to thrive with or without diarrhea (MONDO:MONDO:0859370)", "pathway": " (hsa:10551)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;12592373;12975309;15340161;15834940;18199544;19359471;21200134;23274113;26998125;29557506;31844290;32983136;33968037;34087483;34171305;34237462;34952832;35051231;35318648;35561310;35580925;36215666;36284347;36622190;37175601;37284743;37938771;38288749;39300184;39673647;9790916", "class_list": "", "function": "AGR2 Gene Expression in Glioblastoma: A Novel Molecular Potential Target for Diagnosis and Treatment., [RefSeq, PubMed]; Characterization of the AGR2-NPM3 axis uncovers the AGR2 involvement in PD-L1 regulation in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical implications of AGR2 in primary prostate cancer: Results from a large-scale study., [RefSeq, PubMed]; Clinical value of serum and tissue AGR2 for diagnosis and prognosis in epithelial ovarian cancer., [RefSeq, PubMed]; HAG-2 and hAG-3, human homologues of genes involved in differentiation, are associated with oestrogen receptor-positive breast tumours and interact with metastasis gene C4.4a and dystroglycan., [RefSeq, PubMed]; Potential Role of AGR2 for Mammalian Skin Wound Healing. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Required for MUC2 post-transcriptional synthesis and secretion. May play a role in the production of mucus by intestinal cells (By similarity). Proto-oncogene that may play a role in cell migration, cell differentiation and cell growth. Promotes cell adhesion (PubMed:23274113)., [UniProtKB, PubMed, 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, and a C-terminal ER-retention sequence. This protein plays a role in cell migration, cellular transformation and metastasis and is as a p53 inhibitor. As an ER-localized molecular chaperone, it plays a role in the folding, trafficking, and assembly of cysteine-rich transmembrane receptors and the cysteine-rich intestinal gylcoprotein mucin. This gene has been implicated in inflammatory bowel disease and cancer progression. [provided by RefSeq, Mar 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "diagnostic; prognostic", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0002162 dystroglycan binding;GO:0005154 epidermal growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0006954 inflammatory response;GO:0010628 positive regulation of gene expression;GO:0010811 positive regulation of cell-substrate adhesion;GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway;GO:0048546 digestive tract morphogenesis", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "O95994-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43823-1", "uniprot_id": "AKAP8_HUMAN", "mass": 76108.0, "length": 692, "protein_name": "A-kinase anchor protein 8", "gene_name": "AKAP8", "organism": "Human", "refseq_name": "A-kinase anchor protein 8", "refseq_ac": "NP_005849", "gene_names_uniprotkb": "AKAP8; AKAP95", "gene_names_refseq": "AKAP 95; AKAP-8; AKAP-95; AKAP8; AKAP95", "protein_names_uniprotkb": "A-kinase anchor protein 8; A-kinase anchor protein 95 kDa; AKAP 95; AKAP-8", "protein_names_refseq": "A kinase (PRKA) anchor protein 8; A-kinase anchor protein 8; A-kinase anchor protein, 95kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:10270)", "pathway_count": 1, "publication_count": 92, "publication_id_list": "10601332;10764601;10791967;11237011;11591814;11964380;12740381;14641107;15470020;16227597;16959974;16980585;17081983;17322306;18452278;18669648;18691976;18767875;19277197;19413330;19415658;19651622;19664994;19664995;19690332;19691289;20068231;21406692;22130794;23186163;23481700;23995757;24129315;24275569;24715725;25418920;25576301;25645385;25770215;26154972;26683827;26880274;28649982;28904123;29242379;29351928;29557506;29632046;29769354;29786170;29789417;30397120;30429286;30620550;30779550;31217245;31222486;31530632;31844290;31848261;31980632;32028718;32119511;32157095;32357974;32387766;32488085;32502341;32719551;32938616;32938750;32983136;33298915;33912179;33968037;33981976;34019948;34087483;35051231;35132862;35254053;35289036;35580925;36010968;36691407;37340703;38665916;39302247;39534244;40596516;40914422;9473338", "class_list": "", "function": "A-Kinase Anchor Protein 95 Is Involved in ERK1/2-Elk-1 Signal Transduction in Colon Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; A-Kinase Anchoring Proteins Diminish TGF-beta1/Cigarette Smoke-Induced Epithelial-To-Mesenchymal Transition. Publication Status: Online-Only, [RefSeq, PubMed]; Anchoring protein that mediates the subcellular compartmentation of cAMP-dependent protein kinase (PKA type II) (PubMed:9473338). Acts as an anchor for a PKA-signaling complex onto mitotic chromosomes, which is required for maintenance of chromosomes in a condensed form throughout mitosis. Recruits condensin complex subunit NCAPD2 to chromosomes required for chromatin condensation; the function appears to be independent from PKA-anchoring (PubMed:10601332, PubMed:10791967, PubMed:11964380). May help to deliver cyclin D/E to CDK4 to facilitate cell cycle progression (PubMed:14641107). Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at 'Ser-10' of histone H3; in this function may act redundantly with AKAP8L (PubMed:16980585). Involved in nuclear retention of RPS6KA1 upon ERK activation thus inducing cell proliferation (PubMed:22130794). May be involved in regulation of DNA replication by acting as scaffold for MCM2 (PubMed:12740381). Enhances HMT activity of the KMT2 family MLL4/WBP7 complex and is involved in transcriptional regulation. In a teratocarcinoma cell line is involved in retinoic acid-mediated induction of developmental genes implicating H3 'Lys-4' methylation (PubMed:23995757). May be involved in recruitment of active CASP3 to the nucleus in apoptotic cells (PubMed:16227597). May act as a carrier protein of GJA1 for its transport to the nucleus (PubMed:26880274). May play a repressive role in the regulation of rDNA transcription. Preferentially binds GC-rich DNA in vitro. In cells, associates with ribosomal RNA (rRNA) chromatin, preferentially with rRNA promoter and transcribed regions (PubMed:26683827). Involved in modulation of Toll-like receptor signaling. Required for the cAMP-dependent suppression of TNF in early stages of LPS-induced macrophage activation; the function probably implicates targeting of PKA to NFKB1 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Biophysical properties of AKAP95 protein condensates regulate splicing and tumorigenesis., [RefSeq, PubMed]; Identification of A-Kinase Anchor Protein (AKAP8) as a splicing regulatory factor that impedes EMT and breast cancer metastasis. AKAP8 not only is capable of inhibiting splicing activity of the EMT-promoting splicing regulator hnRNPM through protein-protein interaction, it also directly binds to RNA and alters splicing outcomes. Genome-wide analysis shows that AKAP8 promotes an epithelial cell state splicing program. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [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": 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": 7, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 32, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0042826 histone deacetylase binding;GO:0003690 double-stranded DNA binding;GO:0034237 protein kinase A regulatory subunit binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0015031 protein transport;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "O43823-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P37840-1", "uniprot_id": "SYUA_HUMAN", "mass": 14460.0, "length": 140, "protein_name": "Alpha-synuclein", "gene_name": "SNCA", "organism": "Human", "refseq_name": "alpha-synuclein isoform NACP140", "refseq_ac": "NP_000336", "gene_names_uniprotkb": "SNCA; NACP; PARK1", "gene_names_refseq": "NACP; PARK1; PARK4; PD1; SNCA", "protein_names_uniprotkb": "Alpha-synuclein; NACP; Non-A beta component of AD amyloid; Non-A4 component of amyloid precursor", "protein_names_refseq": "I+/--synuclein; alpha-synuclein isoform NACP140; non A-beta component of AD amyloid; synuclein alpha-140; synuclein, alpha (non A4 component of amyloid precursor)", "tax_id": 9606, "disease": "Parkinson's disease 1 (Disease Ontology:DOID:0060367); late onset Parkinson's disease (Disease Ontology:DOID:0060892); Parkinson's disease 4 (Disease Ontology:DOID:0060895); Alzheimer's disease (Disease Ontology:DOID:10652); Pick's disease (Disease Ontology:DOID:11870); Creutzfeldt-Jakob disease (Disease Ontology:DOID:11949); Lewy body dementia (Disease Ontology:DOID:12217); Parkinson's disease (Disease Ontology:DOID:14330); depressive disorder (Disease Ontology:DOID:1596); neurilemmoma (Disease Ontology:DOID:3192); bipolar disorder (Disease Ontology:DOID:3312); pantothenate kinase-associated neurodegeneration (Disease Ontology:DOID:3981); multiple system atrophy (Disease Ontology:DOID:4752); schizophrenia (Disease Ontology:DOID:5419); amphetamine abuse (Disease Ontology:DOID:670); myeloid leukemia (Disease Ontology:DOID:8692); vascular dementia (Disease Ontology:DOID:8725)", "pathway": " (hsa:6622); (R-HSA-977225); (R-HSA-9833482)", "pathway_count": 3, "publication_count": 392, "publication_id_list": "10.1038/emboj.2013.79;10082513;10097139;10319874;10348343;10391242;10400669;10411933;10583407;10617630;10620360;10626894;10648614;10848580;10852916;10866685;10956649;11096080;11134010;11152499;11156368;11156617;11162638;11237011;11238103;11238927;11278841;11278865;11313968;11337501;11350938;11401442;11438540;11467836;11481478;11500375;11590439;11744621;11781817;11813001;11821392;118839;11909525;11939789;11985496;12096713;12231563;12397061;12454989;12558071;1270801;12859192;12859200;12882984;12893833;12946570;1373135;14506261;14567678;14585331;14755719;15064394;15110760;15207266;15229216;15282274;15299030;15498564;15615727;15737233;15752359;15907845;15962837;16092093;16174740;16179258;16179259;16373505;16431927;16600570;16717090;16799559;1695551;16957079;16959772;16982605;17079286;17146290;17196820;17425515;17652097;17868672;18065497;18070888;18096616;1837051;18414880;18449172;18451726;18484335;1849145;18562315;18835251;18957415;18984734;19004816;19011241;19203374;19229320;19410557;19416861;19457084;19493164;19531498;19558452;19576176;19649707;19658395;19710021;19722699;19733181;19762560;19804757;19828817;19838063;19855133;19889641;20395957;20519500;20676056;20685959;20725866;20798282;20807650;20849899;21072047;21123651;21162130;2118650;21294215;21319811;21462277;21518807;21636578;21841800;21937648;21945393;2195544;21978664;21994559;22065755;22090514;22131221;22214662;22339654;22357655;22370907;22407793;2247437;22854022;22860160;22892036;22986343;23084476;23229543;23314528;23427326;23457019;23576548;23584533;23607618;23677647;23681749;23732991;23813966;2409350;24347309;24412932;24434619;24618582;24623135;24659800;24753571;24833601;24860424;24893886;24936070;25109238;25320964;25394490;25452767;25523424;25548167;25561023;25576301;25589666;25637461;25645385;25653431;25657004;25848059;26018760;26114655;26154972;26220523;26306801;26346361;26352473;26417681;26432638;26442590;26446704;26453202;26475692;26488609;26666838;26668317;26686862;26716879;26719332;26782965;26807092;26807843;26817845;26992070;27003784;27018801;27030050;27208315;27269119;27322472;27341336;27423063;27597756;27862975;27863657;27938414;27974558;279930;28028735;28069888;28167698;28171705;28195695;28281686;28288128;28487126;28550528;28657654;28673834;28765891;28778441;28832583;28834231;28855681;28877262;28910367;28990084;2900981;29170442;29175459;29231267;29348664;29394925;29395325;29440070;29501855;29557506;29589283;29669601;29725300;30096435;30174290;30190461;30219847;3035556;30381260;30404828;30429286;30478174;30484775;3053705;30770398;30805666;3080684;30833945;30877431;3094007;31031002;31034892;31068782;31154438;31257259;3142462;31507364;31555088;31753312;31844290;31848261;32093270;32143619;32144674;32157095;32356200;32426502;32488085;32568772;32595456;32624505;32716602;32801355;32938616;32971383;33138150;33357908;33657088;33718373;33808629;33911136;34171305;34174402;34220490;34648304;34973339;34974168;34974812;35032575;35051231;35251023;35254053;35580925;35682892;35685460;35853942;35905887;35947956;36114228;36304930;36712380;3675579;37127961;37597517;37938771;38047498;38140224;38347213;38351230;39046235;39082221;39162859;39175373;39358446;39412059;40596516;41146299;7491766;7515177;7545299;7565688;7601450;7693978;7737357;7802671;7903669;8033412;8097946;8114934;8159701;8194594;8248242;8464497;8490014;8576172;8576179;8661426;8810342;8870004;8910500;9006323;9034343;9054935;9079663;9197268;9442054;9462735;9521856;9528799;9687506;9737981;9819388;9862427;9920933", "class_list": "", "function": "Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]; Analysis and comparison of post-translational modifications of alpha-synuclein filaments in multiple system atrophy and dementia with Lewy bodies. Publication Status: Online-Only, [RefSeq, PubMed]; Differentially heterogeneous hydration environment of the familial mutants of alpha-synuclein., [RefSeq, PubMed]; Energy gap of conformational transition related with temperature for the NACore of alpha-synuclein. Publication Status: Online-Only, [RefSeq, PubMed]; Neuronal protein that plays several roles in synaptic activity such as regulation of synaptic vesicle trafficking and subsequent neurotransmitter release (PubMed:20798282, PubMed:26442590, PubMed:28288128, PubMed:30404828). Participates as a monomer in synaptic vesicle exocytosis by enhancing vesicle priming, fusion and dilation of exocytotic fusion pores (PubMed:28288128, PubMed:30404828). Mechanistically, acts by increasing local Ca(2+) release from microdomains which is essential for the enhancement of ATP-induced exocytosis (PubMed:30404828). Also acts as a molecular chaperone in its multimeric membrane-bound state, assisting in the folding of synaptic fusion components called SNAREs (Soluble NSF Attachment Protein REceptors) at presynaptic plasma membrane in conjunction with cysteine string protein-alpha/DNAJC5 (PubMed:20798282). This chaperone activity is important to sustain normal SNARE-complex assembly during aging (PubMed:20798282). Also plays a role in the regulation of the dopamine neurotransmission by associating with the dopamine transporter (DAT1) and thereby modulating its activity (PubMed:26442590)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; RXR nuclear receptor signaling modulates lipid metabolism and triggers lysosomal clearance of alpha-synuclein in neuronal models of synucleinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Wild-Type alpha-Synuclein Structure and Aggregation: A Comprehensive Coarse-Grained and All-Atom Molecular Dynamics Study., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 0, "mined_o_glycosites": 2, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "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": 2, "reported_phosphosites": 28, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 17, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A8K2A4;Q13701;Q4JHI3;Q6IAU6", "ec_number_list": "", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003779 actin binding;GO:0004857 enzyme inhibitor activity;GO:0005543 phospholipid binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:0099512 supramolecular fiber;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0051585 negative regulation of dopamine uptake involved in synaptic transmission;GO:0051622 negative regulation of norepinephrine uptake;GO:1903285 positive regulation of hydrogen peroxide catabolic process;GO:1904715 negative regulation of chaperone-mediated autophagy;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 40.5, "record_id": "P37840-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15173-1", "uniprot_id": "2A5B_HUMAN", "mass": 57393.0, "length": 497, "protein_name": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform", "gene_name": "PPP2R5B", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform", "refseq_ac": "NP_006235", "gene_names_uniprotkb": "PPP2R5B", "gene_names_refseq": "B56B; B56beta; PPP2R5B; PR61B", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform; PP2A B subunit isoform B'-beta; PP2A B subunit isoform B56-beta; PP2A B subunit isoform PR61-beta; PP2A B subunit isoform R5-beta", "protein_names_refseq": "protein phosphatase 2 regulatory subunit B', beta; serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:5526); (R-HSA-141430); (R-HSA-141444); (R-HSA-195253); (R-HSA-196299); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-381038); (R-HSA-389356); (R-HSA-389513); (R-HSA-432142); (R-HSA-4641262); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5467337); (R-HSA-5467340); (R-HSA-5467348); (R-HSA-5663220); (R-HSA-5673000); (R-HSA-5675221); (R-HSA-6811558); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 26, "publication_count": 318, "publication_id_list": "10023660;10092233;10196136;10205168;10206983;10411507;10415025;10421629;10428961;10481074;10487827;10490027;10581160;10600384;10601334;10678165;10684251;10694513;10698523;10700176;10702794;10712905;10749138;10754332;10757792;10799894;10827079;10862053;10891492;10921899;10958683;11032810;11081627;11181178;11237011;11325826;11336703;11371342;11375957;11494123;11509732;11522655;11535616;11707456;11738041;11741534;11746989;11756411;11804586;11861647;11955436;11976720;11994459;12000790;12006501;12067995;12101426;12194817;12204115;12244094;12429848;12439748;12474228;12551923;12554650;12577064;12583813;12679384;12732141;12775720;12805219;12820959;12852857;12876557;12932319;12932339;1325671;14530258;14724641;14730319;14731402;15006353;15035987;15073180;15084453;15085137;15142525;15258589;15306667;15327769;15339662;15459198;15466936;15467451;15507212;15664191;15681612;15710605;15711535;15723797;15735151;15737063;15851477;15864301;15866170;15899852;15944396;16041367;16082208;16093354;16292343;16294014;16341016;16341017;16364920;16439214;16456541;16461360;16508002;16537381;16539657;16541025;16551244;16622419;16622420;16630891;16682347;16753179;16818765;16890161;16890222;16892053;16943183;17030981;17097642;17112726;17113138;17129783;17143292;17183061;17196341;17198702;17200115;17204608;17318175;17322306;17339487;1737036;17510365;17529994;17569865;17724343;18001770;18077588;18097444;18281465;18294816;18311776;18332145;18339531;18362152;18515281;18547165;18606139;18632848;18662992;18664523;18716626;18757411;18923426;19049963;19061640;19091743;19107203;19158341;19237556;19350017;19405949;19541618;19576174;19619488;19684605;19696148;19727074;19760609;19802005;19815554;19933846;19965387;20030946;20101212;20227366;20332238;20591975;20674547;20820846;21111234;21148482;21183070;21183076;21248786;21252990;21282569;21329884;21397845;21441104;21441910;21576392;21779496;21868368;21878504;21987589;22094460;22101459;22275430;22438566;22592532;22608513;22730326;22761442;22790947;22885700;23074275;23105109;23135275;23222643;23256519;23360980;23579495;23801653;23863182;23906342;23993095;24121489;24211266;24347342;24914801;24937142;25314968;25576301;25597358;25740311;25789526;25892735;25907612;25965804;25972378;26154972;26343583;27264673;27999210;28082416;28218747;28289718;28514659;28666118;28832583;28904123;28984291;29242379;29437277;29461827;30429286;30779550;31154438;31409757;31844290;31848261;32157095;32897882;33912179;34260926;35580925;36010968;36241641;36581221;7542586;7590364;7592815;7744815;8259518;8259519;8521512;8521513;8521514;8609386;8637718;8638126;8638161;8649453;8666242;8694763;8703017;8757136;8876196;8946678;8946910;9020159;9034327;9037597;9065402;9230313;9234708;9450183;9473480;9482734;9556553;9601641;9635432;9649308;9649503;9689060;9712716;9823899;9858547;9892021;9973466;9990852", "class_list": "", "function": "As the regulatory component of the serine/threonine-protein phosphatase 2A (PP2A) holoenzyme, modulates substrate specificity, subcellular localization, and responsiveness to phosphorylation. The phosphorylated form mediates the interaction between PP2A and AKT1, leading to AKT1 dephosphorylation., [UniProtKB, PubMed]; The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. [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": 8, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q13853", "ec_number_list": "", "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0072542 protein phosphatase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000159 protein phosphatase type 2A complex", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 31.9, "record_id": "Q15173-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TB40-1", "uniprot_id": "ABHD4_HUMAN", "mass": 38794.0, "length": 342, "protein_name": "(Lyso)-N-acylphosphatidylethanolamine lipase", "gene_name": "ABHD4", "organism": "Human", "refseq_name": "(Lyso)-N-acylphosphatidylethanolamine lipase isoform a", "refseq_ac": "NP_071343", "gene_names_uniprotkb": "ABHD4", "gene_names_refseq": "ABH4; ABHD4", "protein_names_uniprotkb": "(Lyso)-N-acylphosphatidylethanolamine lipase; 3.1.1.-; Abhydrolase domain-containing protein 4; Alpha/beta hydrolase domain-containing protein 4; Alpha/beta-hydrolase 4", "protein_names_refseq": "(Lyso)-N-acylphosphatidylethanolamine lipase isoform a; (Lyso)-N-acylphosphatidylethanolamine lipase; abhydrolase domain-containing protein 4; alpha/beta hydrolase domain-containing protein 4; alpha/beta-hydrolase 4; lyso-N-acylphosphatidylethanolamine lipase; protein ABHD4", "tax_id": 9606, "disease": "Chanarin-Dorfman syndrome (Disease Ontology:DOID:0050729); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:63874); (R-HSA-1482839)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10092647;10336645;10455175;10681567;11031251;11112443;11237011;11830583;12161451;12359733;12522102;15695510;15863501;15944408;16617059;16818490;18195019;18287005;18458083;18614531;18772128;18781350;19019078;19351971;19501189;20705608;22488300;22605381;22825852;23481700;26154972;26375851;26503625;26992070;28218747;28228285;28832583;28904123;29242379;2925608;2925633;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30429286;30779550;31092671;31154438;31217245;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32488085;32868797;32938616;32983136;33592498;33717175;33968037;34171305;34185709;35051231;35580925;36010968;36241641;37938771;7060561;8300559;9188469;9417066", "class_list": "", "function": "ABHD4 is a novel genetic regulator of anoikis sensitivity., [RefSeq, PubMed]; ABHD4-dependent developmental anoikis safeguards the embryonic brain. Publication Status: Online-Only, [RefSeq, PubMed]; Lysophospholipase selective for N-acyl phosphatidylethanolamine (NAPE). Contributes to the biosynthesis of N-acyl ethanolamines, including the endocannabinoid anandamide by hydrolyzing the sn-1 and sn-2 acyl chains from N-acyl phosphatidylethanolamine (NAPE) generating glycerophospho-N-acyl ethanolamine (GP-NAE), an intermediate for N-acyl ethanolamine biosynthesis. Hydrolyzes substrates bearing saturated, monounsaturated, polyunsaturated N-acyl chains. Shows no significant activity towards other lysophospholipids, including lysophosphatidylcholine, lysophosphatidylethanolamine and lysophosphatidylserine., [UniProtKB, UniProtKB]; Lysophospholipase/phospholipase B (EC 3.1.1.5) specific for N-acyl phosphatidylethanolamine (NAPE) suggesting a role in the biosynthesis of N-acyl ethanolamines including the endocannabinoid anandamide., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DDH7;Q9H9E0", "ec_number_list": "3.1.1.4;3.1.1.-", "go_molecular_function": "GO:0016787 hydrolase activity;GO:0042171 lysophosphatidic acid acyltransferase activity;GO:0004622 phosphatidylcholine lysophospholipase activity", "go_cellular_component": "GO:0005811 lipid droplet;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006654 phosphatidic acid biosynthetic process;GO:0055088 lipid homeostasis;GO:0016042 lipid catabolic process;GO:0036152 phosphatidylethanolamine acyl-chain remodeling;GO:0070292 N-acylphosphatidylethanolamine metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q8TB40-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H3R5-1", "uniprot_id": "CENPH_HUMAN", "mass": 28481.0, "length": 247, "protein_name": "Centromere protein H", "gene_name": "CENPH", "organism": "Human", "refseq_name": "centromere protein H", "refseq_ac": "NP_075060", "gene_names_uniprotkb": "CENPH; ICEN35", "gene_names_refseq": "CENPH", "protein_names_uniprotkb": "Centromere protein H; CENP-H; Interphase centromere complex protein 35", "protein_names_refseq": "centromere protein H; interphase centromere complex protein 35; kinetochore protein CENP-H", "tax_id": 9606, "disease": "", "pathway": " (hsa:64946); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-606279); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 147, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11092768;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14536089;14730319;15006353;15085137;15339662;15369671;15507212;15713649;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16716197;16875666;16890222;16943183;16959974;17030981;17112726;17113138;17129783;17196341;17198702;17199038;17339379;1737036;17651496;18001770;18007590;18097444;18716626;18923426;19350017;19381461;19398759;19410544;19410545;19691289;19696148;19815554;19965387;20030946;20080577;20101212;20566683;20591975;21111234;21148482;21397845;21576392;21768289;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23186163;23222643;23481700;23801653;24366607;24714562;24914801;25418920;25576301;25740311;25789526;26154972;26728094;26929215;26992070;27600516;27846572;27893789;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29557506;30315122;30410026;31409757;31530632;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33717175;33936100;33968037;34260926;34357683;34405274;34509645;34932366;35051231;35132862;35561310;36284347;40307207;9649308;9649503;9892021", "class_list": "", "function": "Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. [provided by RefSeq, Jul 2008]., [RefSeq]; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Required for chromosome congression and efficiently align the chromosomes on a metaphase plate., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 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": "A8K3Y1", "ec_number_list": "", "go_molecular_function": "GO:0043515 kinetochore binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000776 kinetochore;GO:0005694 chromosome", "go_biological_process": "GO:0051382 kinetochore assembly;GO:0051383 kinetochore organization;GO:0007059 chromosome segregation;GO:0007052 mitotic spindle organization", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "Q9H3R5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14195-1", "uniprot_id": "DPYL3_HUMAN", "mass": 61963.0, "length": 570, "protein_name": "Dihydropyrimidinase-related protein 3", "gene_name": "DPYSL3", "organism": "Human", "refseq_name": "dihydropyrimidinase-related protein 3 isoform 1", "refseq_ac": "NP_001184223", "gene_names_uniprotkb": "DPYSL3; CRMP4; DRP3; ULIP1; ULIP", "gene_names_refseq": "CRMP-4; CRMP4; DPYSL3; DRP-3; DRP3; LCRMP; ULIP-1; ULIP", "protein_names_uniprotkb": "Dihydropyrimidinase-related protein 3; CRMP-4; Collapsin response mediator protein 4; DRP-3; ULIP-1; Unc-33-like phosphoprotein 1", "protein_names_refseq": "collapsin response mediator protein 4 long; dihydropyrimidinase-related protein 3 isoform 1; dihydropyrimidinase-related protein 3; testicular secretory protein Li 7; unc-33-like phosphoprotein 1", "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)", "pathway": " (hsa:1809); (R-HSA-399956)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "11237011;12093729;12372285;14685275;15466863;15652488;15676027;16611631;17081983;17322306;17607942;17607944;18212344;18452278;18578522;19651622;19664994;20058876;20831597;21406692;23301498;24275569;25358863;25576301;25645385;26992070;27397612;27846572;27862975;29393594;29557506;29632046;29786170;30429286;30573663;30833945;31154438;31217245;31844290;31848261;31998317;32121246;32157095;32161166;32357974;32387766;32488085;32938616;32983136;33214551;33392160;33537174;33592498;33655336;33893293;33981976;34171305;34725712;35051231;35318648;35580925;36010968;36284347;37380971;37938771;38665916;8973361;9115293", "class_list": "", "function": "Collapsin response mediator protein 4 enhances the radiosensitivity of colon cancer cells through calciummediated cell signaling., [RefSeq, PubMed]; Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Upregulation of Thr/Tyr kinase Increases the Cancer Progression by Neurotensin and Dihydropyrimidinase-Like 3 in Lung Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Upregulation of dihydropyrimidinase-like 3 (DPYSL3) protein predicts poor prognosis in urothelial 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3SXQ8;Q93012", "ec_number_list": "", "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0042802 identical protein binding;GO:0051219 phosphoprotein binding;GO:0035374 chondroitin sulfate binding;GO:0031005 filamin binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0030027 lamellipodium;GO:0030426 growth cone;GO:0045202 synapse", "go_biological_process": "GO:0010976 positive regulation of neuron projection development;GO:0030336 negative regulation of cell migration;GO:0010977 negative regulation of neuron projection development;GO:0051017 actin filament bundle assembly;GO:0048678 response to axon injury", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q14195-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96CN9-1", "uniprot_id": "GCC1_HUMAN", "mass": 87811.0, "length": 775, "protein_name": "GRIP and coiled-coil domain-containing protein 1", "gene_name": "GCC1", "organism": "Human", "refseq_name": "GRIP and coiled-coil domain-containing protein 1", "refseq_ac": "NP_078799", "gene_names_uniprotkb": "GCC1", "gene_names_refseq": "GCC1P; GCC1; GCC88", "protein_names_uniprotkb": "GRIP and coiled-coil domain-containing protein 1; Golgi coiled-coil protein 1", "protein_names_refseq": "GRIP and coiled-coil domain-containing protein 1; golgi coiled-coil 1; golgi coiled-coil protein 1; peripheral membrane Golgi protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79571); (R-HSA-6811440)", "pathway_count": 2, "publication_count": 130, "publication_id_list": "10209123;10209125;10445031;10559959;10637310;10865125;10990452;11303027;11346801;11359012;11689439;11827983;11839770;12070132;12377769;12446665;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;17914056;18195106;18243103;18256213;18367545;18664496;18946081;19164740;19490898;19620288;20068231;20685960;21183348;21421921;21436057;21689688;21807881;22335553;22354037;22581368;22717455;23091056;23437303;24714562;24715725;24794632;25343031;25576301;26375851;26728094;26811146;26992070;27846572;27920218;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29786170;30315122;30429286;30791178;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32387766;32488085;32938616;32983136;33239640;33592498;33691108;33717175;33912179;33968037;34087483;34171305;34244781;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36284347;7909812;8221884;8440258;8620540;8636227;8670882;9050864;9177194;9230071;9590177", "class_list": "", "function": "Golgi-58K can re-localize to late endosomes upon cellular uptake of PS-ASOs and facilitates endosomal release of ASOs., [RefSeq, PubMed]; Identified an essential role for GCC88 in the localization of TGN fusion machinery for transport from early endosomes to the trans-Golgi network, [RefSeq, PubMed]; Probably involved in maintaining Golgi structure., [UniProtKB]; Spatial proteomics defines the content of trafficking vesicles captured by golgin tethers. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting to subcompartments of trans-Golgi network by GRIP domain, [RefSeq, PubMed]; The ability of the four mammalian GRIP domain proteins, p230, golgin-97, GCC88, and GCC185 to interact is reported., [RefSeq, PubMed]; The authors show that GCC88 is required for the maintenance of the trans-Golgi network (TGN) structure and the efficient endosome-to-TGN trafficking of the cation-independent mannose 6-phosphate receptor (CI-M6PR)., [RefSeq, PubMed]; The protein encoded by this gene is a peripheral membrane protein. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a role in the organization of trans-Golgi network subcompartment involved with membrane transport. [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": 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": "Q9H6N7", "ec_number_list": "", "go_molecular_function": "GO:0031267 small GTPase binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0000138 Golgi trans cisterna", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q96CN9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14525-1", "uniprot_id": "KT33B_HUMAN", "mass": 46214.0, "length": 404, "protein_name": "Keratin, type I cuticular Ha3-II", "gene_name": "KRT33B", "organism": "Human", "refseq_name": "keratin, type I cuticular Ha3-II", "refseq_ac": "NP_002270", "gene_names_uniprotkb": "KRT33B; HHA3-II; HKA3B; KRTHA3B", "gene_names_refseq": "HA3II; Ha-3II; K33B; KRT33B; KRTHA3A; KRTHA3B; hHa3-II", "protein_names_uniprotkb": "Keratin, type I cuticular Ha3-II; Hair keratin, type I Ha3-II; K33B; Keratin-33B", "protein_names_refseq": "hair keratin, type I Ha3-II; hard keratin, type I, 3II; keratin 33B, type I; keratin, hair, acidic, 3B; keratin, type I cuticular Ha3-II; type I hair keratin 3B", "tax_id": 9606, "disease": "", "pathway": " (hsa:3884); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 53, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20068231;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26390218;29557506;31844290;34019948;7543090;7565656;8824274;8999895;9395522;9468612;9565599;9756910", "class_list": "", "function": "This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [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": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "O76010", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0045095 keratin filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0045109 intermediate filament organization;GO:0002009 morphogenesis of an epithelium;GO:0042633 hair cycle", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q14525-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N5S9-1", "uniprot_id": "KKCC1_HUMAN", "mass": 55735.0, "length": 505, "protein_name": "Calcium/calmodulin-dependent protein kinase kinase 1", "gene_name": "CAMKK1", "organism": "Human", "refseq_name": "calcium/calmodulin-dependent protein kinase kinase 1 isoform a", "refseq_ac": "NP_115670", "gene_names_uniprotkb": "CAMKK1; CAMKKA", "gene_names_refseq": "CAMKK1; CAMKKA", "protein_names_uniprotkb": "Calcium/calmodulin-dependent protein kinase kinase 1; 2.7.11.17; CaM-KK 1; CaM-KK alpha; CaM-kinase IV kinase; CaM-kinase kinase 1; CaM-kinase kinase alpha; CaMKK 1; CaMKK alpha; Calcium/calmodulin-dependent protein kinase kinase alpha", "protein_names_refseq": "CAMKK alpha protein; caM-KK 1; caM-KK alpha; caM-kinase IV kinase; caM-kinase kinase 1; caM-kinase kinase alpha; caMKK 1; calcium/calmodulin-dependent protein kinase kinase 1 isoform a; calcium/calmodulin-dependent protein kinase kinase 1, alpha; calcium/calmodulin-dependent protein kinase kinase alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:84254); (R-HSA-111932); (R-HSA-442729); (R-HSA-9619229); (R-HSA-9619483)", "pathway_count": 5, "publication_count": 23, "publication_id_list": "10187789;11230166;11237011;11574070;12935886;15591024;17344846;18212344;18242179;18669648;18691976;20068231;23186163;23301498;23481700;24275569;26992070;28834231;29557506;34165505;35051231;7641687;8702940", "class_list": "", "function": "Calcium/calmodulin-dependent protein kinase that belongs to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Phosphorylates CAMK1, CAMK1D, CAMK1G and CAMK4. Involved in regulating cell apoptosis. Promotes cell survival by phosphorylating AKT1/PKB that inhibits pro-apoptotic BAD/Bcl2-antagonist of cell death., [UniProtKB, PubMed]; Polymorphism rs7214723 in CAMKK1: a new genetic variant associated with cardiovascular diseases., [RefSeq, PubMed]; The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q9BQH3", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0004683 calcium/calmodulin-dependent protein kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8N5S9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BVG8-3", "uniprot_id": "KIFC3_HUMAN", "mass": 92775.0, "length": 833, "protein_name": "Kinesin-like protein KIFC3", "gene_name": "KIFC3", "organism": "Human", "refseq_name": "kinesin-like protein KIFC3 isoform 3", "refseq_ac": "NP_001123571", "gene_names_uniprotkb": "KIFC3", "gene_names_refseq": "KIFC3", "protein_names_uniprotkb": "Kinesin-like protein KIFC3", "protein_names_refseq": "kinesin-like protein KIFC3 isoform 3; kinesin-like protein KIFC3", "tax_id": 9606, "disease": "", "pathway": " (hsa:3801)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "14978097;19007248;19041755;19691289;23186163;25576301;26768311;26992070;27600516;28832583;28834231;29242379;29393594;29557506;30484775;30779550;30833945;31154438;31222486;31844290;31848261;32157095;32161166;32488085;32938616;32983136;33592498;33968037;34171305;34405274;35051231;35580925;36010968;36215666;36241641;36890049;39894887;9782090", "class_list": "", "function": "KIFC3 Regulates the progression and metastasis of gastric cancer via Notch1 pathway., [RefSeq, PubMed]; Minus-end microtubule-dependent motor protein. Involved in apically targeted transport (By similarity). Required for zonula adherens maintenance., [UniProtKB, PubMed]; This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K6S2;B7Z484;O75299;Q49A29;Q49AQ0;Q59G19;Q8IUT3;Q96HW6", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005874 microtubule;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007601 visual perception;GO:0007018 microtubule-based movement;GO:0045218 zonula adherens maintenance;GO:0090136 epithelial cell-cell adhesion;GO:0007017 microtubule-based process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9BVG8-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYQ3-1", "uniprot_id": "KRA93_HUMAN", "mass": 16854.0, "length": 159, "protein_name": "Keratin-associated protein 9-3", "gene_name": "KRTAP9-3", "organism": "Human", "refseq_name": "keratin-associated protein 9-3", "refseq_ac": "NP_114168", "gene_names_uniprotkb": "KRTAP9-3; KAP9.3; KRTAP9.3", "gene_names_refseq": "KAP9.3; KRTAP9-3; KRTAP9.3", "protein_names_uniprotkb": "Keratin-associated protein 9-3; Keratin-associated protein 9.3; Ultrahigh sulfur keratin-associated protein 9.3", "protein_names_refseq": "keratin associated protein 9.3; keratin-associated protein 9-3; ultrahigh sulfur keratin-associated protein 9.3", "tax_id": 9606, "disease": "", "pathway": " (hsa:83900); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "11279113;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]; This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9BYQ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60880-1", "uniprot_id": "SH21A_HUMAN", "mass": 14187.0, "length": 128, "protein_name": "SH2 domain-containing protein 1A", "gene_name": "SH2D1A", "organism": "Human", "refseq_name": "SH2 domain-containing protein 1A isoform 2", "refseq_ac": "NP_001108409", "gene_names_uniprotkb": "SH2D1A; DSHP; SAP", "gene_names_refseq": "DSHP; EBVS; IMD5; LYP; MTCP1; SAP/SH2D1A; SAP; SH2D1A; XLPD1; XLPD; XLP", "protein_names_uniprotkb": "SH2 domain-containing protein 1A; Duncan disease SH2-protein; SLAM-associated protein; Signaling lymphocytic activation molecule-associated protein; T-cell signal transduction molecule SAP", "protein_names_refseq": "Duncan disease SH2-protein; SH2 domain-containing protein 1A isoform 2; SLAM associated protein/SH2 domain protein 1A; SLAM-associated protein; T cell signal transduction molecule SAP; signaling lymphocyte activation molecule-associated protein; signaling lymphocytic activation molecule-associated protein", "tax_id": 9606, "disease": "lymphoproliferative syndrome (Disease Ontology:DOID:0060704); X-linked lymphoproliferative syndrome 1 (Disease Ontology:DOID:0060705)", "pathway": " (hsa:4068); (R-HSA-198933)", "pathway_count": 2, "publication_count": 116, "publication_id_list": "10499918;10549287;10598819;10746781;11034354;11049992;11237011;11265639;11282995;11389028;11477068;11489943;11493483;11513152;11556966;11806999;11807247;11823424;11857637;11858820;11861603;11955593;11955595;11955599;12115647;12213321;12458214;12483297;12545173;12545174;12588680;14583885;14674764;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15841490;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16720617;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;19608861;20730098;21119115;21219180;21241660;21800138;21841309;21877119;22396535;22645359;23695528;23929856;24305946;25703557;25716998;25810538;26154972;26284469;26300885;26768311;29242379;29557506;30429286;31154438;31848261;32983136;33987447;34987501;37858067;38253038;38550577;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896;9771704;9774102", "class_list": "", "function": "Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naive Boy Is Associated With a Novel SH2D1A Mutation. Publication Status: Online-Only, [RefSeq, PubMed]; Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999). However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458214). Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Can also promote CD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. In the context of NK cell-mediated cytotoxicity enhances conjugate formation with target cells (By similarity). May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Overexpression of SH2D1A promotes cancer progression and is associated with immune cell infiltration in hepatocellular carcinoma via bioinformatics and in vitro study. Publication Status: Online-Only, [RefSeq, PubMed]; SAP-expressing T peripheral helper cells identify systemic lupus erythematosus patients with lupus nephritis. Publication Status: Online-Only, [RefSeq, PubMed]; SLAM/SAP Decreased Follicular Regulatory T Cells in Patients with Graves' Disease. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 8, "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": "A8MSW0;O95383;O95384;O95385;O95386;Q6FGS6;Q9UNR0", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0045087 innate immune response;GO:0006968 cellular defense response;GO:0050776 regulation of immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "O60880-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UL45-1", "uniprot_id": "BL1S6_HUMAN", "mass": 19744.0, "length": 172, "protein_name": "Biogenesis of lysosome-related organelles complex 1 subunit 6", "gene_name": "BLOC1S6", "organism": "Human", "refseq_name": "biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 2", "refseq_ac": "NP_036520", "gene_names_uniprotkb": "BLOC1S6; PA; PLDN", "gene_names_refseq": "BLOC1S6; BLOS6; HPS9; PALLID; PA; PLDN", "protein_names_uniprotkb": "Biogenesis of lysosome-related organelles complex 1 subunit 6; BLOC-1 subunit 6; Pallid protein homolog; Pallidin; Syntaxin 13-interacting protein", "protein_names_refseq": "BLOC-1 subunit 6; BLOC-1 subunit pallidin; biogenesis of lysosomal organelles complex-1, subunit 5, pallidin; biogenesis of lysosomal organelles complex-1, subunit 6, pallidin; biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 2; biogenesis of lysosome-related organelles complex 1 subunit 6; pallid protein homolog; syntaxin 13 binding protein 1; syntaxin 13-interacting protein pallid", "tax_id": 9606, "disease": "Hermansky-Pudlak syndrome 9 (Disease Ontology:DOID:0060547); platelet storage pool deficiency (Disease Ontology:DOID:2223); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:26258); (R-HSA-432722)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10394364;10610180;11237011;11590181;11604418;11694590;11936273;11994746;12019270;12191018;15102850;16155256;17116749;17182842;19546860;21665000;21998198;22203680;22461475;23481700;24714562;24715725;25576301;25645385;26154972;26992070;27846572;28475864;29437277;29493099;29557506;30315122;30833945;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33936100;33981976;34211107;34509645;35051231;35580925;36284347;8374173;8524399;8670264", "class_list": "", "function": "Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0051015 actin filament binding;GO:0019905 syntaxin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0031175 neuron projection development;GO:0008089 anterograde axonal transport;GO:0032438 melanosome organization;GO:0035646 endosome to melanosome transport;GO:0048490 anterograde synaptic vesicle transport", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9UL45-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94868-1", "uniprot_id": "FCSD2_HUMAN", "mass": 84276.0, "length": 740, "protein_name": "F-BAR and double SH3 domains protein 2", "gene_name": "FCHSD2", "organism": "Human", "refseq_name": "F-BAR and double SH3 domains protein 2", "refseq_ac": "NP_055639", "gene_names_uniprotkb": "FCHSD2; KIAA0769; SH3MD3", "gene_names_refseq": "FCHSD2; NWK1; NWK; SH3MD3", "protein_names_uniprotkb": "F-BAR and double SH3 domains protein 2; Carom; NWK1; Protein nervous wreck 1; SH3 multiple domains protein 3", "protein_names_refseq": "F-BAR and double SH3 domains protein 2; FCH and double SH3 domains protein 2; SH3 multiple domains 3; SH3 multiple domains protein 3; carom; nervous wreck homolog; protein nervous wreck 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9873)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "11237011;14627983;15067381;20068231;21993680;22544926;22645359;23186163;23481700;23783831;24715725;25418920;25469497;25576301;25880248;26154972;26375851;26811146;26992070;27397612;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29887380;30249660;30315122;30379171;30429286;30524438;30779550;31154438;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34171305;34509645;34520816;34932366;35051231;35580925;36010968;36215666;36241641;37938771;39382837;39531497", "class_list": "", "function": "Adapter protein that plays a role in endocytosis via clathrin-coated pits. Contributes to the internalization of cell surface receptors, such as integrin ITGB1 and transferrin receptor. Promotes endocytosis of EGFR in cancer cells, and thereby contributes to the down-regulation of EGFR signaling. Recruited to clathrin-coated pits during a mid-to-late stage of assembly, where it is required for normal progress from U-shaped intermediate stage pits to terminal, omega-shaped pits. Binds to membranes enriched in phosphatidylinositol 3,4-bisphosphate or phosphatidylinositol 3,4,5-trisphosphate. When bound to membranes, promotes actin polymerization via its interaction with WAS and/or WASL which leads to the activation of the Arp2/3 complex. Does not promote actin polymerisation in the absence of membranes., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Endosomal actin branching, fission, and receptor recycling require FCHSD2 recruitment by MICAL-L1., [RefSeq, PubMed]; FCHSD2 cooperates with CDC42 and N-WASP to regulate cell protrusion 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": 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": 9, "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": "B4DNI3;Q7L8J9;Q8WVM2;Q96FV7;Q9UF77", "ec_number_list": "", "go_molecular_function": "GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0031594 neuromuscular junction;GO:0055037 recycling endosome;GO:0120043 stereocilium shaft", "go_biological_process": "GO:0007274 neuromuscular synaptic transmission;GO:0015031 protein transport;GO:0061024 membrane organization;GO:2000601 positive regulation of Arp2/3 complex-mediated actin nucleation;GO:0072583 clathrin-dependent endocytosis", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "O94868-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86WA6-1", "uniprot_id": "BPHL_HUMAN", "mass": 32543.0, "length": 291, "protein_name": "Serine hydrolase BPHL", "gene_name": "BPHL", "organism": "Human", "refseq_name": "serine hydrolase BPHL isoform 2", "refseq_ac": "NP_001289706", "gene_names_uniprotkb": "BPHL; MCNAA", "gene_names_refseq": "BPH-RP; BPHL; MCNAA; VACVASE", "protein_names_uniprotkb": "Serine hydrolase BPHL; 3.1.-.-; Biphenyl hydrolase-like protein; Biphenyl hydrolase-related protein; Bph-rp; Breast epithelial mucin-associated antigen; L-homocysteine-thiolactonase BPHL; MCNAA; VACVase; Valacyclovir hydrolase; Valacyclovirase", "protein_names_refseq": "L-homocysteine-thiolactonase BPHL; biphenyl hydrolase-like (serine hydrolase); biphenyl hydrolase-related protein; breast epithelial mucin-associated antigen; serine hydrolase BPHL isoform 2; serine hydrolase BPHL; valacyclovir hydrolase; valacyclovirase", "tax_id": 9606, "disease": "stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (Disease Ontology:DOID:0070352)", "pathway": " (hsa:670); (R-HSA-211945)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10445380;10945627;11154734;11237011;11422004;12725862;12732646;1351198;15350128;15492766;15523003;15535985;15832508;16614850;16765324;17400359;18254726;18256025;18285471;19053771;19588076;19608861;19764817;20007405;20177059;20422440;20542992;22700792;22813719;23616950;2393862;23953689;24423752;24677340;24900196;25144769;25333274;25425164;25446851;25923589;27846572;2897122;31844290;32152082;32157095;32171872;32187464;32196348;32205870;32210741;32357974;33717175;34357683;34800366;36010968;36215666;36581221;7759552;7980644;8985016;9169443;9367528;9653080;9721218", "class_list": "", "function": "BPHL catalyzes the hydrolytic activation of the antiviral prodrugs valacyclovir and valganciclovir., [RefSeq, PubMed]; BPHL is a serine hydrolase that catalyzes the hydrolytic activation of amino acid ester prodrugs of nuceloside analogs such as valacyclovir and valganciclovir., [RefSeq, PubMed]; Specific alpha-amino acid ester serine hydrolase that prefers small, hydrophobic, and aromatic side chains and does not have a stringent requirement for the leaving group other than preferring a primary alcohol (PubMed:12732646, PubMed:15832508, PubMed:18256025, PubMed:25333274, PubMed:32196348). Has homocysteine-thiolactonase activity (in vitro) and may play a significant role in the detoxification of homocysteine thiolactone in vivo (PubMed:25333274). Catalyzes the hydrolytic activation of amino acid ester prodrugs of nucleoside analogs such as valacyclovir and valganciclovir, converting them into their active forms (acyclovir and ganciclovir) (PubMed:15832508, PubMed:18256025)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The catalytic efficiency (kcat/Km) of rBPHL for homocysteine thiolactone hydrolysis was 7.7 x 10(4) M(-1)s(-1), orders of magnitude higher than that of PON1 or Blmh, indicating a more significant physiological role for BPHL in detoxifying HCTL Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.[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": 0, "reported_mutagensis": 3, "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": "Q00306;Q13855;Q3KP51", "ec_number_list": "3.1.-.-", "go_molecular_function": "GO:0046872 metal ion binding;GO:0017171 serine hydrolase activity;GO:0047658 alpha-amino-acid esterase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0009636 response to toxic substance;GO:0006520 amino acid metabolic process;GO:0050667 homocysteine metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q86WA6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQ11-1", "uniprot_id": "AT132_HUMAN", "mass": 128794.0, "length": 1180, "protein_name": "Polyamine-transporting ATPase 13A2", "gene_name": "ATP13A2", "organism": "Human", "refseq_name": "polyamine-transporting ATPase 13A2 isoform 2", "refseq_ac": "NP_001135445", "gene_names_uniprotkb": "ATP13A2; PARK9", "gene_names_refseq": "ATP13A2; CLN12; HSA9947; KRPPD; PARK9; SPG78", "protein_names_uniprotkb": "Polyamine-transporting ATPase 13A2; 7.6.2.-", "protein_names_refseq": "ATPase type 13A2; polyamine-transporting ATPase 13A2 isoform 2; polyamine-transporting ATPase 13A2; probable cation-transporting ATPase 13A2", "tax_id": 9606, "disease": "Kufor-Rakeb syndrome (Disease Ontology:DOID:0060556); juvenile-onset Parkinson's disease (Disease Ontology:DOID:0060893); hereditary spastic paraplegia 78 (Disease Ontology:DOID:0112348); Parkinson's disease (Disease Ontology:DOID:14330); neuronal ceroid lipofuscinosis (Disease Ontology:DOID:14503); hereditary spastic paraplegia (Disease Ontology:DOID:2476); amyotrophic lateral sclerosis (Disease Ontology:DOID:332)", "pathway": " (hsa:23400); (R-HSA-936837)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "10401004;10484781;10615129;10767338;11237011;15831496;15919184;15925480;16182249;1656976;16700898;16964263;17485642;18413573;18723824;19015489;19085912;19345671;19878721;20112406;20683840;20853184;21542062;2160952;22186024;22296644;22388936;22768177;23186163;23196729;24392018;24603074;24715725;25392495;26134396;26154972;26811146;26992070;27067231;27217339;27278822;28137957;28904123;29557506;29903538;30429286;30444036;30538141;31132336;31217245;31844290;31996848;32157095;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33912179;33968037;33981976;34171305;34357683;35051231;35318648;35580925;36010968;36241641;36284347;36445873;37080960;37243374;38252374;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043", "class_list": "", "function": "ATP13A2 activates the pentose phosphate pathway to promote colorectal cancer growth though TFEB-PGD axis., [RefSeq, PubMed]; ATP13A2 modifies mitochondrial localization of overexpressed TOM20 to autolysosomal pathway. Publication Status: Online-Only, [RefSeq, PubMed]; ATPase which acts as a lysosomal polyamine exporter with high affinity for spermine (PubMed:31996848). Also stimulates cellular uptake of polyamines and protects against polyamine toxicity (PubMed:31996848). Plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity (PubMed:22186024). Contributes to cellular zinc homeostasis (PubMed:24603074). Confers cellular protection against Mn(2+) and Zn(2+) toxicity and mitochondrial stress (PubMed:26134396). Required for proper lysosomal and mitochondrial maintenance (PubMed:22296644, PubMed:28137957). Regulates the autophagy-lysosome pathway through the control of SYT11 expression at both transcriptional and post-translational levels (PubMed:27278822). Facilitates recruitment of deacetylase HDAC6 to lysosomes to deacetylate CTTN, leading to actin polymerization, promotion of autophagosome-lysosome fusion and completion of autophagy (PubMed:30538141). Promotes secretion of exosomes as well as secretion of SCNA via exosomes (PubMed:24603074, PubMed:25392495). Plays a role in lipid homeostasis (PubMed:31132336)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Parkinson's disease-associated ATP13A2/PARK9 functions as a lysosomal H[+],K[+]-ATPase. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]., [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": 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": 2, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O75700;Q5JXY1;Q5JXY2;Q6S9Z9", "ec_number_list": "7.2.2.-;7.6.2.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0030145 manganese ion binding;GO:0016887 ATP hydrolysis activity;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0016020 membrane;GO:0043025 neuronal cell body;GO:0005764 lysosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:1903710 spermine transmembrane transport;GO:0010628 positive regulation of gene expression;GO:0055088 lipid homeostasis;GO:1903146 regulation of autophagy of mitochondrion;GO:0006874 intracellular calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q9NQ11-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQY0-1", "uniprot_id": "BIN3_HUMAN", "mass": 29665.0, "length": 253, "protein_name": "Bridging integrator 3", "gene_name": "BIN3", "organism": "Human", "refseq_name": "bridging integrator 3 isoform 1", "refseq_ac": "NP_061158", "gene_names_uniprotkb": "BIN3", "gene_names_refseq": "BIN3", "protein_names_uniprotkb": "Bridging integrator 3", "protein_names_refseq": "bridging integrator 3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55909)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;11274158;18669648;24714562;24715725;25576301;26728094;26992070;27600516;27846572;27920218;28832583;28904123;29242379;29493099;29632046;29786170;30379171;31844290;32157095;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34087483;34185709;34357683;34932366;35051231;35580925", "class_list": "", "function": "BIN3 is a BAR domain adapter protein implicated in actin regulation; it is homologous to budding yeast Rvs161 and fission yeast Hob3. GeneRIF: like RVS161, hob3+ and BIN3 regulate F-actin localization, but other roles for these genes have diverged somewhat during evolution, [RefSeq, PubMed]; Involved in cytokinesis and septation where it has a role in the localization of F-actin., [UniProtKB, UniProtKB, UniProtKB]; The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [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": 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": "Q9BVG2;Q9NVY9", "ec_number_list": "", "go_molecular_function": "GO:0008093 cytoskeletal anchor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0005856 cytoskeleton", "go_biological_process": "GO:0006897 endocytosis;GO:0007015 actin filament organization;GO:0008104 intracellular protein localization;GO:0061640 cytoskeleton-dependent cytokinesis;GO:0051666 actin cortical patch localization", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9NQY0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00408-1", "uniprot_id": "PDE2A_HUMAN", "mass": 105717.0, "length": 941, "protein_name": "cGMP-dependent 3',5'-cyclic phosphodiesterase", "gene_name": "PDE2A", "organism": "Human", "refseq_name": "cGMP-dependent 3',5'-cyclic phosphodiesterase isoform PDE2A2", "refseq_ac": "NP_001137311", "gene_names_uniprotkb": "PDE2A", "gene_names_refseq": "CGS-PDE; IDDPADS; PDE2A1; PDE2A; PED2A4; cGSPDE", "protein_names_uniprotkb": "cGMP-dependent 3',5'-cyclic phosphodiesterase; 3.1.4.17; CGS-PDE; Cyclic GMP-stimulated phosphodiesterase; cGSPDE", "protein_names_refseq": "cGMP-dependent 3',5'-cyclic phosphodiesterase isoform PDE2A2; cGMP-dependent 3',5'-cyclic phosphodiesterase; cGMP-stimulated phosphodiesterase 1; cGMP-stimulated phosphodiesterase 2; cGMP-stimulated phosphodiesterase 4; cyclic GMP-stimulated phosphodiesterase; phosphodiesterase 2A, cGMP-stimulated", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); intellectual developmental disorder with paroxysmal dyskinesia or seizures (MONDO:MONDO:0030900)", "pathway": " (hsa:5138); (R-HSA-418457); (R-HSA-418555)", "pathway_count": 3, "publication_count": 86, "publication_id_list": "11007482;11237011;12036966;12038792;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15765929;15769620;15938621;15951850;16313925;16687412;16923326;16990611;17168849;18044684;18577758;19105585;19632989;19828435;19876791;19929708;20213681;20381629;21036126;2163110;23899287;2417744;24687066;24705027;2491850;2553411;2553705;26417854;27726376;27862975;28463107;2871555;29392776;29443750;29557506;29602314;30833991;31154438;3127824;31279028;31399091;31844290;31848261;31983287;32157095;32161166;32196122;32226383;32467598;32497535;32540603;32618402;32715661;32938616;33049737;33112806;33968037;34512162;35051231;35580925;36241641;36611861;37217939;37855295;37938771;38159569;6085243;8340388;8514797;8557689;8672451;9210593;9263355;9417641;9651336", "class_list": "", "function": "Inhibition of PDE2 resulted in higher levels of intracellular cAMP than inhibition of PDE3A suggesting this PDE may be the more important regulator of cAMP in human platelets., [RefSeq, PubMed]; Low Expression of Phosphodiesterase 2 (PDE2A) Promotes the Progression by Regulating Mitochondrial Morphology and ATP Content and Predicts Poor Prognosis in Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-139/PDE2A-Notch1 feedback circuit represses stemness of gliomas by inhibiting Wnt/beta-catenin signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphodiesterase 2 and Its Isoform A as Therapeutic Targets in the Central Nervous System Disorders. Review article, [RefSeq, PubMed]; Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism., [RefSeq, PubMed]; Regulates mitochondrial cAMP levels and respiration (By similarity). Involved in the regulation of mitochondria morphology/dynamics and apoptotic cell death via local modulation of cAMP/PKA signaling in the mitochondrion, including the monitoring of local cAMP levels at the outer mitochondrial membrane and of PKA-dependent phosphorylation of DNM1L (PubMed:28463107)., [UniProtKB, UniProtKB, PubMed]; Regulates mitochondrial cAMP levels and respiration. Involved in the regulation of mitochondria morphology/dynamics and apoptotic cell death via local modulation of cAMP/PKA signaling in the mitochondrion, including the monitoring of local cAMP levels at the outer mitochondrial membrane and of PKA-dependent phosphorylation of DNM1L., [UniProtKB, UniProtKB]; The phosphodiesterase 2A controls lymphatic junctional maturation via cGMP-dependent notch signaling., [RefSeq, PubMed]; cGMP-activated cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:15938621, PubMed:29392776, PubMed:9210593). Has a higher efficiency with cGMP compared to cAMP (PubMed:15938621). Plays a role in cell growth and migration (PubMed:24705027)., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 13, "reported_glycation": 0, "reported_snv": 8, "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": "B2R646;B3KRV5;E9PGI1;F6W5Z0;Q5J791;Q5J792;Q5J793;Q6ZMR1", "ec_number_list": "3.1.4.-;3.1.4.17;3.1.4.53;3.1.4.35;3.1.4.1;3.6.1.9;3.6.1.25;3.6.1.14", "go_molecular_function": "GO:0030911 TPR domain binding;GO:0042301 phosphate ion binding;GO:0000287 magnesium ion binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0003170 heart valve development;GO:0061028 establishment of endothelial barrier;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "O00408-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NEJ9-1", "uniprot_id": "NGDN_HUMAN", "mass": 35894.0, "length": 315, "protein_name": "Neuroguidin", "gene_name": "NGDN", "organism": "Human", "refseq_name": "neuroguidin isoform 1", "refseq_ac": "NP_001036100", "gene_names_uniprotkb": "NGDN; C14orf120", "gene_names_refseq": "C14orf120; CANu1; LCP5; NGDN; NGD; lpd-2", "protein_names_uniprotkb": "Neuroguidin; CANu1; Centromere accumulated nuclear protein 1; EIF4E-binding protein", "protein_names_refseq": "EIF4E-binding protein; centromere accumulated nuclear protein 1; eukaryotic initiation factor 4E and CPEB binding protein; neuroguidin isoform 1; neuroguidin, EIF4E binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:25983)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11237011;17081983;18452278;18547334;18669648;19007248;19531498;19651622;19691289;20068231;21406692;23186163;24714562;25576301;25892735;26154972;26375851;26768311;26992070;27600516;27846572;27920218;28514659;28832583;28904123;29242379;29331515;29493099;29508533;29557506;29769354;29786170;30315122;30833945;31154438;31217245;31222486;31844290;31848261;32157095;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34516797;35051231;35580925;36010968;36241641", "class_list": "", "function": "Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008]., [RefSeq]; 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. Its dissociation from the complex determines the transition from state pre-A1 to state pre-A1* (PubMed:34516797). Inhibits mRNA translation in a cytoplasmic polyadenylation element (CPE)-dependent manner (By similarity)., [UniProtKB, PubMed, UniProtKB]; Study isolated a novel human gene, to be called as CANu1, by the large-scale genome-wide association analysis to screen specific Single nucleotide polymorphisms in colon 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": 13, "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": "A8K760;Q9Y400", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0030424 axon;GO:0030425 dendrite;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0006417 regulation of translation;GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q8NEJ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92900-1", "uniprot_id": "RENT1_HUMAN", "mass": 124345.0, "length": 1129, "protein_name": "Regulator of nonsense transcripts 1", "gene_name": "UPF1", "organism": "Human", "refseq_name": "regulator of nonsense transcripts 1 isoform 1", "refseq_ac": "NP_001284478", "gene_names_uniprotkb": "UPF1; KIAA0221; RENT1", "gene_names_refseq": "HUPF1; NORF1; RENT1; UPF1; UTF; pNORF1; smg-2", "protein_names_uniprotkb": "Regulator of nonsense transcripts 1; 5.6.2.3; 5.6.2.5; ATP-dependent helicase RENT1; Double-stranded nucleic acid 5'-3' helicase UPF1; NORF1; Nonsense mRNA reducing factor 1; Up-frameshift suppressor 1 homolog; hUpf1", "protein_names_refseq": "ATP-dependent helicase RENT1; UPF1 regulator of nonsense transcripts homolog; delta helicase; nonsense mRNA reducing factor 1; regulator of nonsense transcripts 1 isoform 1; regulator of nonsense transcripts 1; smg-2 homolog, nonsense mediated mRNA decay factor; up-frameshift mutation 1 homolog; up-frameshift suppressor 1 homolog; yeast Upf1p homolog", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888)", "pathway": " (hsa:5976); (R-HSA-975956); (R-HSA-975957)", "pathway_count": 3, "publication_count": 211, "publication_id_list": "10454541;10999600;11073994;11113196;11163187;11237011;11331269;11532962;11544179;11546874;11551508;12417715;12554878;12718880;12832468;14527413;14636577;14742663;14973490;15034551;15546618;15721257;16086026;16186820;16209946;16284618;16452507;16601204;16622410;17053788;17081983;17159905;17352659;17363904;17525332;17697703;17803942;17893241;17932509;18066079;18172165;18230761;18256688;18362360;18423202;18447580;18447585;18524595;18657639;18669648;18974281;19060897;19150429;19359157;19417104;19478851;19503078;19556969;19690332;19859661;19864460;19909264;20023408;20068231;20479275;20691628;20817927;20930030;21029861;21145460;21406692;21419344;21965535;22424782;22898188;23085078;23186163;23234702;23275559;23356578;23481700;24129315;24275569;24714562;24715725;24726324;25053839;25220460;25418920;25576301;25645385;25880248;26000482;26130714;26138914;26154972;26375851;26728094;26758079;26811146;26841701;26992070;27397612;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29371260;29382845;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30059200;30218034;30315122;30397120;30410026;30429286;30484775;30524438;30620550;30779550;30833945;31154438;31217245;31329944;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34229054;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38244688;38412299;38625794;38665916;38709891;39302247;40136647;40307207;40914422;8855285;9064659", "class_list": "", "function": "Nonsense-mediated mRNA decay affects hyperactive root formation in oculo-facio-cardio-dental syndrome via up-frameshift protein 1. Erratum:[J Oral Biosci. 2024 Jun;66(2):483. doi: 10.1016/j.job.2024.03.003. PMID: 38871435], [RefSeq, PubMed]; RNA-dependent helicase required for nonsense-mediated decay (NMD) of aberrant mRNAs containing premature stop codons and which modulates the expression level of normal mRNAs (PubMed:11163187, PubMed:16086026, PubMed:18172165, PubMed:21145460, PubMed:21419344, PubMed:24726324). ATP-dependent 5'-3' helicase active on RNA:DNA substrates with a 5'-RNA extension (PubMed:18066079, PubMed:21419344, PubMed:23275559, PubMed:26138914). ATP-dependent 5'-3' helicase active on RNA:RNA substrates with a 5'-RNA extension (PubMed:26138914). ATP-dependent 5'-3' helicase active on DNA:DNA substrates with a 5'-DNA extension (PubMed:10999600, PubMed:26138914, PubMed:30218034). Is recruited to mRNAs upon translation termination and undergoes a cycle of phosphorylation and dephosphorylation; its phosphorylation appears to be a key step in NMD (PubMed:11544179, PubMed:25220460). Recruited by release factors to stalled ribosomes together with the SMG1C protein kinase complex to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex (PubMed:19417104). In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) (located 50-55 or more nucleotides downstream from the termination codon) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD (PubMed:21419344). Phosphorylated UPF1 is recognized by EST1B/SMG5, SMG6 and SMG7 which are thought to provide a link to the mRNA degradation machinery involving exonucleolytic and endonucleolytic pathways, and to serve as adapters to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation and allowing the recycling of NMD factors (PubMed:12554878). UPF1 can also activate NMD without UPF2 or UPF3, and in the absence of the NMD-enhancing downstream EJC indicative for alternative NMD pathways (PubMed:18447585). Plays a role in replication-dependent histone mRNA degradation at the end of phase S; the function is independent of UPF2 (PubMed:16086026, PubMed:18172165). For the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed (PubMed:18447585, PubMed:25220460). The ATPase activity of UPF1 is required for disassembly of mRNPs undergoing NMD (PubMed:21145460). Together with UPF2 and dependent on TDRD6, mediates the degradation of mRNA harboring long 3'UTR by inducing the NMD machinery (By similarity). Has ssDNA-stimulated ATPase activity (poly(dT) and poly(dA) are most stimulatory) (PubMed:10999600). Binds RNA; addition of ATP decreases RNA-binding (PubMed:10999600, PubMed:18066079, PubMed:21419344)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. 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 is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]; UPF1 ATPase autoinhibition and activation modulate RNA binding kinetics and NMD efficiency., [RefSeq, PubMed]; UPF1 helicase orchestrates mutually exclusive interactions with the SMG6 endonuclease and UPF2., [RefSeq, PubMed]; UPF1 regulates mRNA stability by sensing poorly translated coding sequences., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 24, "reported_glycation": 0, "reported_snv": 22, "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": "O00239;O43343;Q86Z25;Q92842", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;3.6.5.-;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.1.3.16;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;3.6.1.62;2.7.4.3", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0032201 telomere maintenance via semi-conservative replication;GO:0006449 regulation of translational termination;GO:0032204 regulation of telomere maintenance;GO:0006281 DNA repair;GO:0006406 mRNA export from nucleus", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "Q92900-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35625-1", "uniprot_id": "TIMP3_HUMAN", "mass": 24145.0, "length": 211, "protein_name": "Metalloproteinase inhibitor 3", "gene_name": "TIMP3", "organism": "Human", "refseq_name": "metalloproteinase inhibitor 3 precursor", "refseq_ac": "NP_000353", "gene_names_uniprotkb": "TIMP3", "gene_names_refseq": "HSMRK222; K222TA2; K222; SFD; TIMP3", "protein_names_uniprotkb": "Metalloproteinase inhibitor 3; Protein MIG-5; TIMP-3; Tissue inhibitor of metalloproteinases 3", "protein_names_refseq": "MIG-5 protein; TIMP-3; metalloproteinase inhibitor 3 precursor; metalloproteinase inhibitor 3; protein MIG-5; tissue inhibitor of metalloproteinases 3", "tax_id": 9606, "disease": "Sorsby's fundus dystrophy (Disease Ontology:DOID:0090114); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); sciatic neuropathy (Disease Ontology:DOID:11446); dilated cardiomyopathy (Disease Ontology:DOID:12930); thoracic aortic aneurysm (Disease Ontology:DOID:14004); breast cancer (Disease Ontology:DOID:1612); preretinal fibrosis (Disease Ontology:DOID:2006); breast carcinoma (Disease Ontology:DOID:3459); choriocarcinoma (Disease Ontology:DOID:3594); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); renal cell carcinoma (Disease Ontology:DOID:4450); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:7078); (R-HSA-114608)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10.1101/2023.09.13.557529;10854443;12652295;1435334;14630798;15123717;15297306;17913923;18638486;23328677;23640497;25558000;27600516;29242379;29314611;29557506;30429286;31154438;31222486;31844290;32157095;32162841;32350084;32387766;32983136;33043033;33936100;33968037;34357683;34509645;35051231;35561310;35580925;37074911;38369214;38601018;38612555;38665916;38798256;38878456;6457647;7148944;7550309;7772252;7795886;7894485;8034652;8163205;8174111;8188246;8467233;8634721;8639088;8666262;8728699;8806658;8808469;8919688;8981947", "class_list": "glycogene", "function": "Associations between genetically predicted TIMP-3 levels and risk of venous thromboembolism: A two sample Mendelian randomization study., [RefSeq, PubMed]; Demethylation of TIMP2 and TIMP3 Inhibits Cell Proliferation, Migration, and Invasion in Pituitary Adenomas., [RefSeq, PubMed]; Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates a variety of processes including matrix regulation and turnover, inflammation, and angiogenesis, through reversible inhibition of zinc protease superfamily enzymes, primarily matrix metalloproteinases (MMPs). Regulates extracellular matrix (ECM) remodeling through inhibition of matrix metalloproteinases (MMP) including MMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15. Additionally, modulates the processing of amyloid precursor protein (APP) and apolipoprotein E receptor ApoER2 by inhibiting two alpha-secretases ADAM10 and ADAM17 (PubMed:17913923). Functions as a tumor suppressor and a potent inhibitor of angiogenesis. Exerts its anti-angiogenic effect by directly interacting with vascular endothelial growth factor (VEGF) receptor-2/KDR, preventing its binding to the VEGFA ligand (PubMed:12652295). Selectively induces apoptosis in angiogenic endothelial cells through a caspase-independent cell death pathway (PubMed:25558000). Mechanistically, inhibits matrix-induced focal adhesion kinase PTK2 tyrosine phosphorylation and association with paxillin/PXN and disrupts the incorporation of ITGB3, PTK2 and PXN into focal adhesion contacts on the matrix (PubMed:25558000)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Review: Mechanisms of TIMP-3 accumulation and pathogenesis in Sorsby fundus dystrophy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; TIMP3/Wnt axis regulates gliosis of Muller glia., [RefSeq, PubMed]; This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 252, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 14, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RBY9;Q5THV4;Q9UC74;Q9UGS2", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0008191 metalloendopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0031012 extracellular matrix;GO:0005604 basement membrane", "go_biological_process": "GO:0051045 negative regulation of membrane protein ectodomain proteolysis;GO:0007601 visual perception;GO:0034097 response to cytokine;GO:0009725 response to hormone;GO:0010716 negative regulation of extracellular matrix disassembly", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P35625-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BSI4-1", "uniprot_id": "TINF2_HUMAN", "mass": 50023.0, "length": 451, "protein_name": "TERF1-interacting nuclear factor 2", "gene_name": "TINF2", "organism": "Human", "refseq_name": "TERF1-interacting nuclear factor 2 isoform 1", "refseq_ac": "NP_001092744", "gene_names_uniprotkb": "TINF2; TIN2", "gene_names_refseq": "DKCA3; DKCA5; TIN2; TINF2", "protein_names_uniprotkb": "TERF1-interacting nuclear factor 2; TRF1-interacting nuclear protein 2", "protein_names_refseq": "TERF1 (TRF1)-interacting nuclear factor 2; TERF1-interacting nuclear factor 2 isoform 1; TRF1-interacting nuclear protein 2", "tax_id": 9606, "disease": "autosomal dominant dyskeratosis congenita 3 (Disease Ontology:DOID:0070018); Revesz syndrome (Disease Ontology:DOID:0070026); dyskeratosis congenita (Disease Ontology:DOID:2729)", "pathway": " (hsa:26277); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-171319); (R-HSA-174411); (R-HSA-174414); (R-HSA-174417); (R-HSA-174430); (R-HSA-174437); (R-HSA-2559586); (R-HSA-9670095)", "pathway_count": 15, "publication_count": 178, "publication_id_list": "10037601;10074426;10323868;10329413;10581025;10669743;10706276;10882850;10930409;11056019;11237011;11454856;11673449;11904416;11938440;12097317;12140329;12393752;12456671;12556884;12699629;12718543;12766176;12768206;12930902;12953102;14532133;15007108;15060173;15064416;15066120;15125634;15189140;15231715;15235794;15316005;15341901;15369670;15383534;15458641;15510216;15655109;15790808;16141325;16166375;16221681;16262255;16314528;16339074;16522649;16858402;16880378;17172855;17395830;17512402;17694070;17923702;18202258;18252230;18358808;18438399;18523010;18593712;18669648;19146767;19179534;19229133;1924375;19279399;19383767;19734544;1974050;19783983;19854130;20068231;20211137;20404094;20524933;20551483;20634189;20639858;20651253;21722948;22460582;22569481;22579284;22848106;22871736;22962365;23103865;23186163;2342578;23604072;23657261;23755964;2392154;23977114;24038470;24115439;24715725;25128433;25240135;25271372;25576301;25593184;25620558;26055325;26095805;26154972;26992070;27354518;27846572;27849570;27920218;28334750;28649982;28832583;28834231;28854357;28904123;29178645;29242379;29557506;29695869;29774655;29786170;30026550;30429286;31723267;31844290;31848261;32157095;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33633747;33912179;33968037;34932366;35051231;35580925;36010968;36651296;37611825;37646013;6693436;7479006;8016081;8110764;8218289;8242751;8242752;8284199;8407958;8475094;8662714;8794855;8954124;9008167;9187114;9207108;9223305;9223306;9285814;9321410;9430628;9705289;9733514;9733515;9790531;9811839;9822671;9843217;9890904", "class_list": "", "function": "Co-localises with the interstitial TTAGGG repeats in interstitial telomeres., [RefSeq, PubMed]; Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix., [UniProtKB, PubMed, PubMed]; EIF3i promotes colorectal cancer cell survival via augmenting PHGDH translation., [RefSeq, PubMed]; Phosphorylation of TRF2 promotes its interaction with TIN2 and regulates DNA damage response at telomeres., [RefSeq, PubMed]; TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [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": 5, "reported_mutagensis": 2, "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": "B3W5Q7;Q9H904;Q9UHC2", "ec_number_list": "", "go_molecular_function": "GO:0042162 telomeric DNA binding", "go_cellular_component": "GO:0010370 perinucleolar chromocenter;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000783 nuclear telomere cap complex;GO:0070187 shelterin complex", "go_biological_process": "GO:1904356 regulation of telomere maintenance via telomere lengthening;GO:0050680 negative regulation of epithelial cell proliferation;GO:0016233 telomere capping;GO:0032202 telomere assembly;GO:0032211 negative regulation of telomere maintenance via telomerase", "synthesized_glycan_count": 0, "hit_score": 17.9, "record_id": "Q9BSI4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15498-1", "uniprot_id": "VAV_HUMAN", "mass": 98314.0, "length": 845, "protein_name": "Proto-oncogene vav", "gene_name": "VAV1", "organism": "Human", "refseq_name": "proto-oncogene vav isoform 3", "refseq_ac": "NP_001245136", "gene_names_uniprotkb": "VAV1; VAV", "gene_names_refseq": "VAV1; VAV", "protein_names_uniprotkb": "Proto-oncogene vav", "protein_names_refseq": "proto-oncogene vav isoform 3; proto-oncogene vav; vav 1 guanine nucleotide exchange factor; vav 1 oncogene", "tax_id": 9606, "disease": "endometriosis (Disease Ontology:DOID:289); lymphopenia (Disease Ontology:DOID:614); hepatocellular carcinoma (Disease Ontology:DOID:684); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:7409); (R-HSA-114604); (R-HSA-1257604); (R-HSA-1433557); (R-HSA-193648); (R-HSA-2029482); (R-HSA-2219530); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-389359); (R-HSA-416482); (R-HSA-4420097); (R-HSA-512988); (R-HSA-5218920); (R-HSA-6811558); (R-HSA-8980692); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013408); (R-HSA-9027284); (R-HSA-912631); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-9748787); (R-HSA-983695)", "pathway_count": 25, "publication_count": 869, "publication_id_list": "10026222;10037681;10037737;10051622;10075701;10087012;10191262;10207103;10207622;10219243;10232922;10358045;10377264;10395673;10397721;10432293;10464238;10469124;10477686;10477722;10490598;10496324;10498607;10508610;10523665;10523675;10523831;10523834;10526156;10544657;10556826;10559246;10559936;10579713;10619026;10636924;10648173;10652265;10669745;10677529;10679268;10692392;10699171;10699464;10706702;10724160;10744763;10749680;10760587;10770799;10781580;1081164;10840050;10847683;10849438;10860980;10873388;10873802;10878810;10880360;10884405;10949031;10958683;10982827;10983984;10995437;11005864;11007481;11015619;11030334;11042164;11058585;11071869;11085924;11124936;11145705;11147812;11149925;11157975;11207612;11226282;11231582;11237011;11262396;11276226;11278486;11283606;11294240;11306453;11313914;11328862;11329366;11340081;11340169;11373293;11395409;11395417;11396949;11431473;11432776;11443118;11449366;11481033;11494148;11520784;11553796;11584276;11606584;11606631;11672528;11680691;11689693;11695992;11696015;11704860;11707405;11707441;11742120;11747816;11756498;11756552;11773441;11803464;11804587;11804589;11804590;11809791;11829459;11854399;11864571;11884391;11901194;11909947;11912491;11919634;11961559;11967128;12055636;12062105;12071859;12084069;12093360;12096337;12097334;12101119;12105426;12123608;12134158;12167717;12177196;12181444;12189515;12192036;12195014;12213210;12214271;12215529;12221077;12221096;12235133;12351724;12376551;12391143;12393632;12400014;12432077;12433842;12435799;12453414;12456653;12464388;12515866;12531887;12546821;12547822;12573241;12650940;12660731;12665586;12670394;12697733;12743368;12767043;12810700;12813055;12820653;12824176;12832405;12857875;12877655;12878163;12881521;12923183;12975316;1314888;1325671;1371879;1372019;1374290;1375232;1375264;1376928;1377053;1381360;1396555;1400495;14512443;14514689;1464587;14673001;14675773;14676198;14718541;14724572;15023524;15026417;15033976;15040784;15064355;15107133;15133129;15143187;15147912;15161916;15169870;15187135;15247219;15302923;15308668;15339924;15342493;15452139;15470142;15485661;1550550;15507211;15509800;15526160;15542837;15548136;15558030;15579468;15592455;15601624;15611138;15618286;1565462;15657136;15661896;15688067;1569084;15695828;15699036;15699075;15708849;15718470;15728722;15747503;15749160;15814684;15834429;15850391;15858067;15866170;15886116;15897194;15951850;15962004;1599430;16002401;16081809;16112081;16115318;16116428;16129412;16174766;16184169;16212495;16217026;16243035;16243036;16262445;16285729;16336962;16339170;16339315;16456541;16467373;16473593;16483568;16492808;16497976;16507994;16519628;16522641;16530731;16546099;1660188;16630611;16636067;16641196;16647110;16702231;16717136;16737840;16760434;16762923;16776779;16777452;16777849;16849466;16862148;16873377;16880808;16896804;16906149;16914516;16923326;16938345;16966330;16968698;1702217;17027967;1702903;17030947;17050525;1705565;17060455;17060906;17077126;17145773;17158234;17188549;17196961;17199126;17200115;17202194;17202354;17214551;1721591;17224452;17237347;17244649;17255936;17269730;17293873;17301077;17308335;17344430;17452328;17486119;17502104;17540168;17562871;17583407;17599059;17616532;17626883;17662946;17662961;17686471;17698854;17702745;17765681;17804252;17932950;17942708;17976533;17996297;18006505;18006696;18025150;18045877;18052078;18056264;18070890;18079394;18158243;18187424;18191593;18218625;18249095;18295596;18296442;18301737;18317450;18326500;1833064;1833065;18347018;18374420;18374639;18391171;18396277;18420269;18426980;18577758;18589439;18594509;18596693;18606717;18653540;18662984;18692472;18697750;1874735;18754654;18755892;18779373;18818202;18829452;18829560;18838382;18843204;18925875;18955485;18995841;19124833;19185485;19206206;19207108;19212140;19230644;19249086;19267251;19269969;19372136;19409513;19411071;19412549;19494238;19574218;19576174;19581409;19592646;19605563;19635168;19644473;19673492;19700402;19713215;19741094;197968;19805105;19850008;19909365;19934221;19955216;19962665;20028078;20030946;2005887;20101212;2011584;20192804;20216118;20223979;20231295;20304997;20338997;20400958;20460433;20522708;20591975;20628200;2065657;20658524;20660154;20679435;2069873;20713702;20810653;21037092;211390;21148482;21151158;21188471;21209280;21317208;21351730;21368164;21378159;21408196;21419341;21445309;21454492;21469132;21478295;21542010;21565175;21606197;21613211;21621533;21668414;21699497;21723252;21730051;21822214;21827948;21865595;21936715;21976531;21984976;21989057;22004470;22096251;22120714;22180443;22188813;22210847;22267732;22298643;22305756;22327215;22401777;22407364;22424782;22444596;22475431;22552008;22588880;22608513;22645359;22661716;22673745;22689825;22734669;22802530;22814904;22911862;22970203;22992742;2303036;2304550;23096567;23200924;23209303;23216836;23255595;23288169;23325923;23434736;23481700;23572525;23620790;23641311;23675550;23707487;23718289;23757206;23758320;23816837;23870057;23870313;23940355;24086303;24128008;24259668;24272870;24335996;24352656;24584101;24596147;24623723;24659802;24715725;2474607;2477241;24824603;24859002;24933155;24960694;24974183;25024229;25092874;25211221;25414122;25418920;25428919;2555171;25576301;25704760;25721503;25795300;25801024;25862245;25880248;25892735;26002965;26016997;26024233;26129894;26154972;26238318;26371245;26529257;26659126;26758079;2681215;26887924;26992070;27016526;27072905;27117132;27145964;27216196;27481945;27536065;27555588;27566826;27713499;27806292;27862975;27920218;27926862;27986909;28112683;28114311;28196833;28218747;28228285;2841328;28425720;28507287;28584191;28736554;28832024;28832583;28834231;28904123;29058761;29089502;29146911;29242379;29314611;29358323;29382922;29393594;29437277;29482072;29493099;29508533;29557506;29632046;29632711;29704617;29786170;29945920;29964125;30007591;30201761;30315122;30410026;30853411;30987408;31048504;31085175;31105010;31154438;31389670;31530632;31844290;31871319;32157095;32203420;32350084;32357974;32387766;32488085;32502341;32698503;32897882;32938616;32983136;33141586;33298915;33392160;33633747;33691108;33717175;33912179;33936100;34093574;34211107;34357683;34509645;34561969;3500860;35051231;35494241;35580925;35584138;36617975;37174676;37545183;37938771;38253038;38441379;40914422;4589993;5767308;6335036;657528;6989049;7476457;7478592;7479768;7506952;7509446;7509796;7512369;7513165;7518558;7523381;7524079;7526158;7528218;7536744;7537740;7538118;7539782;7559638;7592958;7624799;7637810;7651724;7673236;7680037;7687428;7687539;7688784;7691807;7721814;7737275;7744773;7753201;7835339;7848918;7855889;7927516;7937899;7997270;8007942;8021274;803528;8084588;8107774;8163536;8226881;8246984;8306975;8400282;8483502;8493579;8537347;8543060;8571126;8611693;8617235;8617742;8626543;8629002;8630736;8631904;8636116;8643598;8645157;8647802;8647804;8649427;8649859;8657148;8662891;8663278;8670112;8673706;8677749;8695790;8702662;8756646;8769096;8774734;8798539;8799126;8805223;8807639;8809042;8810315;8816443;8939998;8947042;8947047;8950973;8986718;8990121;8994827;8995358;8995445;9013646;9028946;9030599;9032261;9038210;9045650;9099726;9111050;9111318;9113980;9132023;9162069;9162089;9182576;9199344;9200440;9209406;9235916;9256427;9259313;9305890;9308960;9326643;9341187;9355737;9382888;9393975;9398617;9399639;9418861;9422786;942489;9438848;9438849;9446650;9472046;9490638;9497316;9520479;9525940;9535835;9548756;9582072;9590251;9600938;9639556;9659915;9670022;9685210;9694876;9697839;9705280;9705962;9736715;9766809;9768361;9792683;9796816;9799231;9799234;9822598;9822605;9822663;9829970;9843499;9872323;9883880;9885284;9895304;9988689;9989831", "class_list": "", "function": "Couples tyrosine kinase signals with the activation of the Rho/Rac GTPases, thus leading to cell differentiation and/or proliferation., [UniProtKB]; RhoA G17E/Vav1 Signaling Induces Cancer Invasion via Matrix Metalloproteinase-9 in Gastric Cancer., [RefSeq, PubMed]; Sex-dependent expression levels of VAV1 and P2X7 in PBMC of multiple sclerosis patients., [RefSeq, PubMed]; Spatially resolved in silico modeling of NKG2D signaling kinetics suggests a key role of NKG2D and Vav1 Co-clustering in generating natural killer cell activation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]., [RefSeq]; Unraveling the Oncogenic Potential of VAV1 in Human Cancer: Lessons from Mouse Models. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Vav1-dependent Rac1 activation mediates hypoxia-induced gemcitabine resistance in pancreatic ductal adenocarcinoma cells through upregulation of HIF-1alpha expression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 33, "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": "B4DVK9;M0QXX6;Q15860", "ec_number_list": "", "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0140031 phosphorylation-dependent protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0016477 cell migration;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0031295 T cell costimulation;GO:0071466 cellular response to xenobiotic stimulus", "synthesized_glycan_count": 0, "hit_score": 87.2, "record_id": "P15498-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P14373-1", "uniprot_id": "TRI27_HUMAN", "mass": 58490.0, "length": 513, "protein_name": "Zinc finger protein RFP", "gene_name": "TRIM27", "organism": "Human", "refseq_name": "zinc finger protein RFP", "refseq_ac": "NP_006501", "gene_names_uniprotkb": "TRIM27; RFP; RNF76", "gene_names_refseq": "RFP; RNF76; TRIM27", "protein_names_uniprotkb": "Zinc finger protein RFP; 2.3.2.27; RING finger protein 76; Ret finger protein; Tripartite motif-containing protein 27", "protein_names_refseq": "RFP transforming protein; RING finger protein 76; RING-type E3 ubiquitin transferase TRIM27; ret finger protein; tripartite motif protein TRIM27; tripartite motif-containing protein 27; zinc finger protein RFP", "tax_id": 9606, "disease": "", "pathway": " (hsa:5987); (R-HSA-3232142); (R-HSA-8948751); (R-HSA-9635465)", "pathway_count": 4, "publication_count": 111, "publication_id_list": "10504338;10976108;11035045;11237011;11331580;12297295;12393906;12445133;12787916;12807881;1437549;14530259;15837424;17156811;17218260;19345329;19473982;19691289;19729658;20068231;20300531;20454556;20864041;20972456;21532586;22121020;22128329;22275911;22427670;22829933;23419514;23452853;23481700;24002598;24144979;24270891;24367090;24714562;25187516;25320289;25547115;25576301;25645385;25780035;25802875;25880248;26183061;26280536;26358190;26365382;26375851;26992070;27698396;28218747;28228285;28832583;28904123;29242379;29437277;29508533;29557506;29632711;29688809;29786170;30315122;3037315;30410026;30429286;30524438;30847745;31154438;31217245;31844290;31848261;31937595;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;3380101;33936100;33968037;34019948;34087483;34171305;34185709;34405274;34509645;34561969;35051231;35580925;35670107;36010968;36111389;36538041;36891983;37938771;38146129;38390831;9247190;9570750", "class_list": "", "function": "(Microbial infection) Positively regulates hepatitis C virus replication by suppressing type I IFN response during infection., [UniProtKB, PubMed]; CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates ubiquitination of various substrates and thereby plays a role in diffent processes including proliferation, innate immunity, apoptosis, immune response or autophagy (PubMed:22829933, PubMed:24144979, PubMed:29688809, PubMed:36111389). Ubiquitinates PIK3C2B and inhibits its activity by mediating the formation of 'Lys-48'-linked polyubiquitin chains; the function inhibits CD4 T-cell activation. Acts as a regulator of retrograde transport: together with MAGEL2, mediates the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1, leading to promote endosomal F-actin assembly (PubMed:23452853). Has a transcriptional repressor activity by cooperating with EPC1. Induces apoptosis by activating Jun N-terminal kinase and p38 kinase and also increases caspase-3-like activity independently of mitochondrial events. May function in male germ cell development. Has DNA-binding activity and preferentially bound to double-stranded DNA. Forms a complex with and ubiquitinates the ubiquitin-specific protease USP7, which in turn deubiquitinates RIPK1 resulting in the positive regulation of TNF-induced apoptosis (PubMed:24144979). In addition, acts with USP7 or PTPN11 as an inhibitor of the antiviral signaling pathway by promoting kinase TBK1 ubiquitination and degradation (PubMed:26358190, PubMed:29688809). Acts as a negative regulator of NOD2 signaling by mediating ubiquitination of NOD2, promoting its degradation by the proteasome (PubMed:22829933). Alternatively, facilitates mitophagy via stabilization of active TBK1 (PubMed:36111389). Negatively regulates autophagy flux under basal conditions by directly polyubiquitinating ULK1 (PubMed:35670107). During starvation-induced autophagy, catalyzes non-degradative ubiquitination of the kinase STK38L promoting its activation and phosphorylation of ULK1 leading to its ubiquitination and degradation to restrain the amplitude and duration of autophagy (PubMed:35670107)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; METTL14 promotes IL-6-induced viability, glycolysis and inflammation in HaCaT cells via the m6A modification of TRIM27., [RefSeq, PubMed]; TRIM27 elicits protective immunity against tuberculosis by activating TFEB-mediated autophagy flux., [RefSeq, PubMed]; TRIM27 expression is associated with poor prognosis in sinonasal mucosal melanoma., [RefSeq, PubMed]; This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation of male germ cells. Fusion of the N-terminus of this protein with the truncated C-terminus of the RET gene product has been shown to result in production of the ret transforming 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": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2BE15;Q5RJA8;Q5ST26;Q6LA73;Q6NXR9;Q9BZY6;Q9UJL3", "ec_number_list": "2.3.2.-;2.3.2.27;3.1.3.67;3.1.3.-;3.1.3.16;3.1.3.48", "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005768 endosome", "go_biological_process": "GO:0032897 negative regulation of viral transcription;GO:0044790 suppression of viral release by host;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "P14373-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H6L4-1", "uniprot_id": "ARMC7_HUMAN", "mass": 21924.0, "length": 198, "protein_name": "Armadillo repeat-containing protein 7", "gene_name": "ARMC7", "organism": "Human", "refseq_name": "armadillo repeat-containing protein 7 isoform 2", "refseq_ac": "NP_001291200", "gene_names_uniprotkb": "ARMC7", "gene_names_refseq": "ARMC7", "protein_names_uniprotkb": "Armadillo repeat-containing protein 7", "protein_names_refseq": "armadillo repeat-containing protein 7 isoform 2; armadillo repeat-containing protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:79637)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;20068231;25892735;28228285;28832583;28904123;29242379;29331515;29393594;29632711;29769354;30429286;31844290;32157095;32502341;32938616;33509932;33912179;33968037;34357683;35051231;36241641", "class_list": "", "function": "As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs., [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": 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": "B4DVA4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9H6L4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXI6-1", "uniprot_id": "TB10A_HUMAN", "mass": 57118.0, "length": 508, "protein_name": "TBC1 domain family member 10A", "gene_name": "TBC1D10A", "organism": "Human", "refseq_name": "TBC1 domain family member 10A isoform 1", "refseq_ac": "NP_001191169", "gene_names_uniprotkb": "TBC1D10A; EPI64; TBC1D10", "gene_names_refseq": "EPI64; TBC1D10A; TBC1D10; dJ130H16.1; dJ130H16.2", "protein_names_uniprotkb": "TBC1 domain family member 10A; EBP50-PDX interactor of 64 kDa; EPI64 protein; Rab27A-GAP-alpha", "protein_names_refseq": "EBP50-PDX interactor of 64 kDa; EBP50-PDZ interactor of 64 kD; TBC1 domain family member 10A isoform 1; rab27A-GAP-alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:83874); (R-HSA-8854214)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10202141;11237011;11285285;16055087;16395330;16923811;17658474;17901050;18199687;18319245;18466115;18477386;18669648;19077034;19413330;19664994;19690332;20095038;20116244;20363736;20404108;21383079;21458671;22219378;22613832;22762500;22795129;22854040;23019362;23186163;23562278;25880248;27846572;28904123;29493099;29557506;30905672;31844290;32157095;32357974;32938616;33141586;33298915;33592498;33912179;33968037;34171305;34757852;35051231;35318648;35580925;36241641", "class_list": "", "function": "GTPase-activating protein (GAP) specific for RAB27A and RAB35 (PubMed:16923811, PubMed:30905672). Does not show GAP activity for RAB2A, RAB3A and RAB4A (PubMed:16923811)., [UniProtKB, PubMed, PubMed]; The RabGAPs EPI64A and EPI64B regulate the apical structure of epithelial cells (dagger)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "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": "B3KXT8;O76053;Q20WK7;Q543A2", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0045296 cadherin binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005902 microvillus", "go_biological_process": "GO:0042147 retrograde transport, endosome to Golgi;GO:0045862 positive regulation of proteolysis", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9BXI6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30532-1", "uniprot_id": "ACHA5_HUMAN", "mass": 53054.0, "length": 468, "protein_name": "Neuronal acetylcholine receptor subunit alpha-5", "gene_name": "CHRNA5", "organism": "Human", "refseq_name": "neuronal acetylcholine receptor subunit alpha-5 isoform 1 precursor", "refseq_ac": "NP_000736", "gene_names_uniprotkb": "CHRNA5; NACHRA5", "gene_names_refseq": "CHRNA5; LNCR2", "protein_names_uniprotkb": "Neuronal acetylcholine receptor subunit alpha-5", "protein_names_refseq": "Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5; acetylcholine receptor, nicotinic, alpha 5 (neuronal); cholinergic receptor, nicotinic alpha 5; cholinergic receptor, nicotinic, alpha 5 (neuronal); neuronal acetylcholine receptor subunit alpha-5 isoform 1 precursor; neuronal nicotinic acetylcholine receptor, alpha5 subunit", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); lung cancer (Disease Ontology:DOID:1324); alcohol use disorder (Disease Ontology:DOID:1574); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); congenital myasthenic syndrome (Disease Ontology:DOID:3635); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); lung large cell carcinoma (Disease Ontology:DOID:4556); lung small cell carcinoma (Disease Ontology:DOID:5409); cocaine abuse (Disease Ontology:DOID:809); nasopharynx carcinoma (Disease Ontology:DOID:9261)", "pathway": " (hsa:1138); (R-HSA-629594); (R-HSA-629597)", "pathway_count": 3, "publication_count": 55, "publication_id_list": "10.1101/2023.09.13.557529;10513815;10945867;11237011;12042320;12810063;15104674;1542648;18385676;18385720;18385738;19059502;19223495;19577767;20881005;23843950;24715725;25418920;25469497;25576301;25892735;26992070;27344019;27846572;27920218;28063628;28834231;29393594;29557506;29632046;29769354;30315122;30410026;31154438;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;33691108;33912179;35051231;35580925;37116611;37372959;37921560;38331937;38654694;8663494;8906617;9009220;9045906", "class_list": "", "function": "CHRNA5 gene variation affects the response of VTA dopaminergic neurons during chronic nicotine exposure and withdrawal., [RefSeq, PubMed]; CHRNA5 links chandelier cells to severity of amyloid pathology in aging and Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (PubMed:20881005, PubMed:8663494). Has an accessory rather than functional role and is only able to form functional nAChRs when co-assembled with another beta subunit (PubMed:20881005, PubMed:8663494). Participates in pentameric assemblies along with CHRNA3, CHRNA4, CHRNB2 and CHRNB4 (PubMed:20881005, PubMed:8663494). Increases receptor sensitivity to acetylcholine and nicotine when associated with CHRNA4 and CHRNB2 (PubMed:8663494). Plays a role in nicotine addiction (PubMed:20881005)., [UniProtKB, PubMed, PubMed]; Nicotinic Receptor Alpha-5 Subunit Gene Polymorphism is Associated With Heavy Smoking Under a Range of Nicotine Dosing Conditions., [RefSeq, PubMed]; Nicotinic acetylcholine receptor subunits alpha4 and alpha5 associated with smoking behavior and lung cancer are regulated by upstream open reading frames. Publication Status: Online-Only, [RefSeq, PubMed]; PLEK2 mediates metastasis and invasion via alpha5-nAChR activation in nicotine-induced lung adenocarcinoma., [RefSeq, PubMed]; The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]., [RefSeq]; The rs16969968 Tobacco Smoking-Related Single-Nucleotide Variant Is Associated with Clinical Markers in Patients with Severe COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 2, "disease_count": 13, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q15824;Q99554", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0015276 ligand-gated monoatomic ion channel activity;GO:0015464 acetylcholine receptor activity;GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity;GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0034703 cation channel complex;GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0045202 synapse;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007271 synaptic transmission, cholinergic;GO:0007274 neuromuscular synaptic transmission;GO:0035094 response to nicotine;GO:0035095 behavioral response to nicotine", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P30532-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IY31-1", "uniprot_id": "IFT20_HUMAN", "mass": 15281.0, "length": 132, "protein_name": "Intraflagellar transport protein 20 homolog", "gene_name": "IFT20", "organism": "Human", "refseq_name": "intraflagellar transport protein 20 homolog isoform 1", "refseq_ac": "NP_001254703", "gene_names_uniprotkb": "IFT20", "gene_names_refseq": "IFT20", "protein_names_uniprotkb": "Intraflagellar transport protein 20 homolog; hIFT20", "protein_names_refseq": "intraflagellar transport 20 homolog; intraflagellar transport protein 20 homolog isoform 1; intraflagellar transport protein 20 homolog; intraflagellar transport protein IFT20", "tax_id": 9606, "disease": "", "pathway": " (hsa:90410); (R-HSA-5620924)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "10069812;11237011;11285270;12107411;12795688;14672413;15231740;15269286;15489852;15523559;15955805;16049494;16435301;16492809;16775004;16782012;17312020;17314406;17574030;17604723;18180368;18304522;18364699;18369462;18852297;19112494;19147001;19253336;19384852;19450523;19720863;19805633;19889948;20435895;20526327;20526328;20530210;20889716;21427764;21936775;22118932;22922713;22992454;23530209;23945166;23990561;24140113;24296415;24596149;24616010;25205765;25349261;25443296;26375851;28218747;28904123;29237719;29242379;29437277;29557506;30315122;30429286;30929735;31637240;31844290;32488085;32502341;32938616;33717175;33968037;35580925;35869490;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Associations of IFT20 and GM130 protein expressions with clinicopathological features and survival of patients with lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Data report the molecular cloning and characterization of a novel human cDNA encoding a putative protein of 158 amino acid residues which shares high homology to Mus musculus intraflagellar transport protein mIFT20., [RefSeq, PubMed]; Part of intraflagellar transport (IFT) particles involved in ciliary process assembly (PubMed:17604723). May play a role in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium (PubMed:16775004). Regulates the platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway. Required for protein stability of E3 ubiquitin ligases CBL and CBLB that mediate ubiquitination and internalization of PDGFRA for proper feedback inhibition of PDGFRA signaling (PubMed:29237719). Essential for male fertility. Plays an important role in spermatogenesis, particularly spermiogenesis, when germ cells form flagella. May play a role in the transport of flagellar proteins ODF2 and SPAG16 to build sperm flagella and in the removal of redundant sperm cytoplasm (By similarity). Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a intraflagellar transport protein important for intracellular transport. The encoded protein forms part of a complex involved in trafficking of proteins from the Golgi body, including recycling of immune signalling components (Finetti et al., PubMed: 19855387). This gene is part of a complex set of sense-antisense loci that may be co-regulated. 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 14.[provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "J3QL09;Q5GLZ2;Q9BUG5", "ec_number_list": "", "go_molecular_function": "GO:0031267 small GTPase binding;GO:0002046 opsin binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005929 cilium", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0060271 cilium assembly;GO:0034067 protein localization to Golgi apparatus;GO:0061512 protein localization to cilium", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q8IY31-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NUZ1-1", "uniprot_id": "ACOXL_HUMAN", "mass": 61795.0, "length": 547, "protein_name": "Acyl-coenzyme A oxidase-like protein", "gene_name": "ACOXL", "organism": "Human", "refseq_name": "acyl-coenzyme A oxidase-like protein isoform 1", "refseq_ac": "NP_001136279", "gene_names_uniprotkb": "ACOXL", "gene_names_refseq": "ACOX4; ACOXL", "protein_names_uniprotkb": "Acyl-coenzyme A oxidase-like protein; 1.3.3.-; Acyl-CoA oxidase-like protein", "protein_names_refseq": "acyl-CoA oxidase-like protein; acyl-coenzyme A oxidase-like protein isoform 1; acyl-coenzyme A oxidase-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55289); (R-HSA-389887)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "10092594;10486279;11060344;11060359;11237011;12562770;15060085;15099582;15599942;16385454;16756494;20332261;20731705;2351134;24715725;26237329;29242379;29557506;31154438;31844290;32488085;33592498;34087483;35051231;7649182;8387517;8902629;8943006;9089413;9271077", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; The study identified two proteins, TMEM79 and ACOXL, with potential to differentiate between benign and cancerous prostatic glands in tissue biopsies. 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": 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": "A2RRB7;B7WPB3;B7WPP7;E9PB20;Q53R27;Q53R31;Q53SC6;Q8TCE7", "ec_number_list": "1.3.3.6;1.3.3.-", "go_molecular_function": "GO:0005504 fatty acid binding;GO:0050660 flavin adenine dinucleotide binding;GO:0071949 FAD binding;GO:0003997 acyl-CoA oxidase activity;GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors", "go_cellular_component": "GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase;GO:0006635 fatty acid beta-oxidation;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9NUZ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10275-1", "uniprot_id": "ANDR_HUMAN", "mass": 99188.0, "length": 920, "protein_name": "Androgen receptor", "gene_name": "AR", "organism": "Human", "refseq_name": "androgen receptor isoform 1", "refseq_ac": "NP_000035", "gene_names_uniprotkb": "AR; DHTR; NR3C4", "gene_names_refseq": "AIS; AR8; AR; DHTR; HUMARA; HYSP1; KD; NR3C4; SBMA; SMAX1; TFM", "protein_names_uniprotkb": "Androgen receptor; Dihydrotestosterone receptor; Nuclear receptor subfamily 3 group C member 4", "protein_names_refseq": "androgen receptor isoform 1; dihydrotestosterone receptor; nuclear receptor subfamily 3 group C member 4", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); oppositional defiant disorder (Disease Ontology:DOID:0050856); ductal carcinoma in situ (Disease Ontology:DOID:0060074); Kennedy's disease (Disease Ontology:DOID:0060161); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); partial androgen insensitivity syndrome (Disease Ontology:DOID:0080776); prostate cancer (Disease Ontology:DOID:10283); hypertension (Disease Ontology:DOID:10763); hypospadias (Disease Ontology:DOID:10892); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); prostatic hypertrophy (Disease Ontology:DOID:11132); cryptorchidism (Disease Ontology:DOID:11383); osteoporosis (Disease Ontology:DOID:11476); polycystic ovary syndrome (Disease Ontology:DOID:11612); spinal muscular atrophy (Disease Ontology:DOID:12377); leiomyoma (Disease Ontology:DOID:127); conduct disorder (Disease Ontology:DOID:12995); endometrial cancer (Disease Ontology:DOID:1380); prostate adenocarcinoma (Disease Ontology:DOID:2526); endometriosis (Disease Ontology:DOID:289); invasive ductal carcinoma (Disease Ontology:DOID:3008); acute kidney failure (Disease Ontology:DOID:3021); androgen insensitivity syndrome (Disease Ontology:DOID:4674); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); prostate cancer, hereditary, X-linked 3 (MONDO:MONDO:0971170)", "pathway": " (hsa:367); (R-HSA-3371497); (R-HSA-383280); (R-HSA-4090294); (R-HSA-5625886); (R-HSA-5689880); (R-HSA-8940973)", "pathway_count": 7, "publication_count": 423, "publication_id_list": "10022458;10075738;10092153;10221692;10221770;10235266;10318905;10332029;10359561;10363963;10383460;10400640;10404311;10425033;10444327;10458483;10470409;10502786;10542397;10543676;10569618;10571951;10590024;10598582;10625666;10629558;10690872;10706109;10747884;10840043;10930412;10946887;10982817;11106645;11121022;11156376;11231320;11237011;11396978;11404460;11545733;11566882;11587068;11589254;11701661;11744994;11751894;11788616;11865025;11906285;11923872;12015328;12039962;12077349;12144530;12177000;12231506;12361945;12391164;12415108;12514133;12529404;12612053;12781197;12917689;12917691;12958311;1303262;1307250;1316540;13486053;1424203;1426313;1430233;14500761;14573606;1458719;14609956;1464650;14661020;14664718;14756668;14765127;1480178;1487249;1493716;15053880;15159550;15175151;15192080;15192092;15381148;15525515;15563469;15591061;1561105;1562539;15634333;1569163;15851746;15896744;15902657;15916963;15923626;15961505;16025100;16027218;16051670;16079795;1609793;16099986;16129672;16214042;1631125;16403413;16595706;16603238;16641486;16751105;16751179;16901786;16912044;16951154;16964248;17020914;17045208;17105732;17218271;17290220;17311914;17314004;17443180;17470458;17494760;17550981;17587566;17591767;17711855;17717077;1775137;17804755;17873522;17911242;17980597;17981138;18007036;18066052;18084323;18172164;18215318;18222118;18243712;18254226;18451096;18451177;18467330;18477452;18511414;1856263;18632802;18635947;18636086;19015242;19022849;19041634;19135894;19188362;19211567;19244107;19345326;19359544;19363159;19389811;19398555;19424180;19692572;19801668;19838211;19850744;19864602;19874889;19909775;19910467;19955185;1999491;20006655;20007693;20038533;20072699;20096447;2010552;20159957;20228808;20368735;20501646;20623637;2062380;20686481;20713353;20719936;20812024;2082179;20877012;20980437;21157430;21158691;21173110;21183720;21239494;21350948;21362556;21376746;21406692;21467194;21512132;21571647;21596315;21659512;21700222;21796517;21799006;21849505;21878636;21962518;22011577;22029577;22031296;22085928;22128162;22170608;22216260;22266222;22318716;22334387;22406838;22433123;2260966;22791416;2293020;22930759;23159851;23395819;2342476;23486064;23487765;23546875;23824326;23825189;23887938;23906537;24012426;24056413;24260525;24275569;24493797;24694367;24737579;24874833;24896179;25008967;25091737;25114211;25197364;25305019;2546571;25578727;25865393;2594783;26073023;26203193;26313416;26967290;26992070;27276681;27462449;27527401;27535533;27663436;27797343;28083797;28301631;28755533;28919297;2911578;2917688;29393594;29632046;29786170;30197098;30429286;31110491;31141847;31731497;3174628;31826031;31848261;32016915;32157095;3216866;32320027;32357974;32387766;32448030;32544881;32982970;33141586;33392160;3353726;3353727;33592498;33647767;3377788;34509645;35051231;35580925;36010968;36215666;36284347;36470072;38214432;39390216;6645495;6891012;7511268;7537149;7578059;7581399;7591265;7626493;7633398;7641413;7649358;7671849;7673412;7712463;7723794;7891679;7909256;7910529;7929841;7937057;7962294;7970939;7981687;7981689;7993455;8033918;8040309;8096390;8097257;8103398;8126121;8145761;8157723;8162033;8187068;8205256;8213813;8224266;8240973;8274409;8281139;8281140;8282004;8292051;8325932;8325950;8339746;8413310;8446106;8530589;8550758;8560673;8626869;8628719;8643607;8647313;8683794;8723113;8768864;8809734;8823308;8824883;8827083;8830623;8918984;8990010;9000575;9001799;9007482;9016528;9039340;9096391;9106550;9160185;9182762;9184448;9196614;9220020;9252933;9255042;9302173;9328206;9329414;9421404;9438000;9464360;9464361;9543136;9544375;9554754;9554755;9607727;9610419;9627582;9653119;9667968;9698822;9768671;9788719;9816170;9851768;9856504", "class_list": "", "function": "Androgen Receptor Promotes Lung Cancer Metastasis by Modifying the miR23a-3p/EPHB2 Pathway., [RefSeq, PubMed]; Data suggest an important role of AR45 in modulating AR function and add a novel level of complexity to the mode of action of androgens, [RefSeq, PubMed]; Lacks the C-terminal ligand-binding domain and may therefore constitutively activate the transcription of a specific set of genes independently of steroid hormones., [UniProtKB, PubMed]; Lacks the C-terminal ligand-binding domain and therefore constitutively regulates the transcription of a specific set of canonical AR-target genes, including PSA/KLK3 and TMPRSS2, independently of steroid hormones (PubMed:19244107, PubMed:25008967). However, some genes are differentially regulated by full-length AR (isoform 1) and isoform 3. Isoform 3-specific target genes may be regulated independently of FOXA1 expression (PubMed:25008967)., [UniProtKB, PubMed, PubMed]; Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues (PubMed:19022849). Transcription factor activity is modulated by bound coactivator and corepressor proteins like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]., [RefSeq]; The membrane-associated AR8 isoform may contribute to castration resistance by potentiating AR-mediated proliferative and survival responses to hormones and growth factors., [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": 30, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 108, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 26, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A0B4J1T2;A2RUN2;B1AKD7;C0JKD3;C0JKD4;E7EVX6;Q9UD95", "ec_number_list": "", "go_molecular_function": "GO:0034056 estrogen response element binding;GO:0060090 molecular adaptor activity;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 42.6, "record_id": "P10275-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96L34-1", "uniprot_id": "MARK4_HUMAN", "mass": 82520.0, "length": 752, "protein_name": "MAP/microtubule affinity-regulating kinase 4", "gene_name": "MARK4", "organism": "Human", "refseq_name": "MAP/microtubule affinity-regulating kinase 4 isoform 1", "refseq_ac": "NP_001186796", "gene_names_uniprotkb": "MARK4; KIAA1860; MARKL1", "gene_names_refseq": "MARK4L; MARK4S; MARK4; MARKL1L; MARKL1; PAR-1D", "protein_names_uniprotkb": "MAP/microtubule affinity-regulating kinase 4; 2.7.11.1; MAP/microtubule affinity-regulating kinase-like 1", "protein_names_refseq": "MAP/microtubule affinity-regulating kinase 4 isoform 1; MAP/microtubule affinity-regulating kinase 4; MAP/microtubule affinity-regulating kinase like 1; MARK4 serine/threonine protein kinase; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "visual impairment and progressive phthisis bulbi (Disease Ontology:DOID:0070356); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:57787); (R-HSA-5620912)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "11237011;11326310;12735302;14594945;14976552;15009667;16357211;16959763;17344846;17574030;17646400;17719545;18037885;18254724;18694559;18801063;19004860;19081074;19940019;20230748;20308558;20399632;20558667;21273506;21422230;21548880;21565611;21620453;21725307;21792235;22179047;22433857;22653444;23141531;23141541;23184942;23186163;23253480;23348840;23400999;23481700;23530209;23666762;23747070;23769972;23789104;24053599;24089205;24231678;24469809;24715725;24982133;25047611;25123532;25313408;25418920;25576301;26154972;27846572;28649982;28656979;28904123;29485866;30779550;31530632;31844290;31848261;31998317;32157095;32265295;32387766;33141586;33298915;33968037;35051231;35192892;35561310;36010968;38041405;38301049;39079384", "class_list": "", "function": "Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism. Publication Status: Online-Only, [RefSeq, PubMed]; Interaction of Sp1 and Setd8 promotes vascular smooth muscle cells apoptosis by activating Mark4 in vascular calcification., [RefSeq, PubMed]; MARK2/4 promotes Warburg effect and cell growth in non-small cell lung carcinoma through the AMPKalpha1/mTOR/HIF-1alpha signaling pathway., [RefSeq, PubMed]; MARK4 is likely to be directly involved in microtubule organization in neuronal cells, [RefSeq, PubMed]; MARK4 promotes the malignant phenotype of gastric cancer through the MAPK/ERK signaling pathway., [RefSeq, PubMed]; Normally expressed in neural progenitors, re-expressed in gliomas and may become a target of amplification upon chr. 19 rearrangement., [RefSeq, PubMed]; Serine/threonine-protein kinase (PubMed:14594945, PubMed:15009667, PubMed:23184942, PubMed:23666762). Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:14594945, PubMed:23666762). Also phosphorylates the microtubule-associated proteins MAP2 and MAP4 (PubMed:14594945). Involved in regulation of the microtubule network, causing reorganization of microtubules into bundles (PubMed:14594945, PubMed:25123532). Required for the initiation of axoneme extension during cilium assembly (PubMed:23400999). Regulates the centrosomal location of ODF2 and phosphorylates ODF2 in vitro (PubMed:23400999). Plays a role in cell cycle progression, specifically in the G1/S checkpoint (PubMed:25123532). Reduces neuronal cell survival (PubMed:15009667). Plays a role in energy homeostasis by regulating satiety and metabolic rate (By similarity). Promotes adipogenesis by activating JNK1 and inhibiting the p38MAPK pathway, and triggers apoptosis by activating the JNK1 pathway (By similarity). Phosphorylates mTORC1 complex member RPTOR and acts as a negative regulator of the mTORC1 complex, probably due to disruption of the interaction between phosphorylated RPTOR and the RRAGA/RRAGC heterodimer which is required for mTORC1 activation (PubMed:23184942). Involved in NLRP3 positioning along microtubules by mediating NLRP3 recruitment to microtubule organizing center (MTOC) upon inflammasome activation (PubMed:28656979)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "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": "Q8NG37;Q96JG7;Q96SQ2;Q9BYD8", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;3.6.4.10;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;3.6.5.2;3.6.5.-;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0008093 cytoskeletal anchor activity;GO:0048156 tau protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0030425 dendrite;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007399 nervous system development;GO:0035556 intracellular signal transduction;GO:0051301 cell division;GO:0045787 positive regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q96L34-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2M2I8-1", "uniprot_id": "AAK1_HUMAN", "mass": 103885.0, "length": 961, "protein_name": "AP2-associated protein kinase 1", "gene_name": "AAK1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "AAK1; KIAA1048", "gene_names_refseq": "", "protein_names_uniprotkb": "AP2-associated protein kinase 1; 2.7.11.1; Adaptor-associated kinase 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:22848); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 282, "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;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12847086;12944396;12952931;12952949;12958364;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15252009;15260957;15302935;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15802264;15895077;15916959;16083285;16103228;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;16964243;17018281;17035995;17081983;17158794;17267500;17344846;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18199683;18212344;18220336;18234856;18344231;18388313;1847920;18657069;18669648;18691976;18767875;18775314;18790740;18819912;18981233;19092055;19140243;19287005;19296720;19367720;19369195;19413330;19415658;19458185;19536138;19575674;19603039;19651622;19664994;19664995;1968060;19690332;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20058876;20059951;20068231;20211604;20231386;20351096;20428113;20448150;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21406692;21445324;21464124;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22238634;22357968;22445341;22484487;22505844;22564745;2257624;22815487;22863004;22942912;23186163;23297414;23536704;23823722;23861397;23891661;24130457;24186068;24275569;24384571;24581490;24680432;24746795;24789820;24966051;25107275;25303366;25341920;25653444;26042225;26403691;26829388;26853940;26992070;27846572;27862975;28228285;28657654;28832583;28834231;28904123;2890644;29242379;29351928;29557506;30315122;30429286;30620550;31136173;31373491;31844290;32157095;32350084;32357974;32387766;32897882;32938616;32938750;32983136;33298915;33592498;33912179;33968037;33981976;34019948;34087483;3417785;34509645;35051231;35132862;35251023;35254053;35580925;35705054;36010968;36215666;36731797;37340703;37541260;38665916;39531497;40307207;40914422;41350704;6146630;7569928;7822302;7877694;8524399;8552632;8553074;8837779;9092476;9100026;9169477;9303539;9427626;9428629;9635431;9723620;9736607;9812899", "class_list": "", "function": "(Microbial infection) By regulating clathrin-mediated endocytosis, AAK1 plays a role in the entry of hepatitis C virus as well as for the lifecycle of other viruses such as Ebola and Dengue., [UniProtKB, PubMed, PubMed]; Regulates clathrin-mediated endocytosis by phosphorylating the AP2M1/mu2 subunit of the adaptor protein complex 2 (AP-2) which ensures high affinity binding of AP-2 to cargo membrane proteins during the initial stages of endocytosis (PubMed:11877457, PubMed:11877461, PubMed:12952931, PubMed:14617351, PubMed:17494869, PubMed:25653444). Isoform 1 and isoform 2 display similar levels of kinase activity towards AP2M1 (PubMed:17494869). Preferentially, may phosphorylate substrates on threonine residues (PubMed:11877457, PubMed:18657069). Regulates phosphorylation of other AP-2 subunits as well as AP-2 localization and AP-2-mediated internalization of ligand complexes (PubMed:12952931). Phosphorylates NUMB and regulates its cellular localization, promoting NUMB localization to endosomes (PubMed:18657069). Binds to and stabilizes the activated form of NOTCH1, increases its localization in endosomes and regulates its transcriptional activity (PubMed:21464124)., [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 39, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "Q4ZFZ3;Q53RX6;Q9UPV4", "ec_number_list": "2.7.11.1;2.7.1.153;2.7.1.137;2.7.1.154;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;3.1.3.-;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.10.1;2.7.2.3;2.7.11.23;3.6.4.10;5.6.1.6;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;3.6.5.2;2.3.1.48;2.3.2.27;2.3.1.-;2.7.11.26;3.6.5.5;2.7.11.31;3.6.4.-;3.1.3.86;3.1.3.56;3.1.3.36;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0005112 Notch binding;GO:0035612 AP-2 adaptor complex binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0031252 cell leading edge;GO:0043195 terminal bouton", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0061024 membrane organization;GO:0032880 regulation of protein localization;GO:0045747 positive regulation of Notch signaling pathway;GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 29.8, "record_id": "Q2M2I8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZC7-1", "uniprot_id": "ABCA2_HUMAN", "mass": 269833.0, "length": 2435, "protein_name": "ATP-binding cassette sub-family A member 2", "gene_name": "ABCA2", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family A member 2 isoform a", "refseq_ac": "NP_001597", "gene_names_uniprotkb": "ABCA2; ABC2; KIAA1062", "gene_names_refseq": "ABC2; ABCA2; IDPOGSA", "protein_names_uniprotkb": "ATP-binding cassette sub-family A member 2; 7.6.2.-; ATP-binding cassette 2; ATP-binding cassette transporter 2", "protein_names_refseq": "ATP-binding cassette 2; ATP-binding cassette sub-family A member 2 isoform a; ATP-binding cassette transporter 2; ATP-binding cassette, sub-family A (ABC1), member 2; ATP-binding cassette, sub-family A, member 2", "tax_id": 9606, "disease": "intellectual developmental disorder with poor growth and with or without seizures or ataxia (MONDO:MONDO:0032930)", "pathway": " (hsa:20); (R-HSA-1369062)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10.1101/2023.09.13.557529;10551832;10704444;10777694;10873640;11095984;11099417;11178988;11237011;11248239;11309290;11478798;11606068;11718719;12150964;12183068;12504089;12509503;12821155;12917409;14570867;14592415;15007061;15044640;15093135;15209530;15238223;15994327;15999530;16007253;17081983;18669648;21810484;22086926;23186163;24190977;24201375;24275569;24831815;25645385;26510981;26797129;26992070;28510447;29237092;29242379;29302074;29557506;29731959;29741879;30237576;30315122;30524438;30779550;30833945;31154438;31217245;31844290;32157095;32161166;32350084;32357974;32387766;32488085;32752121;32938616;33592498;33912179;33968037;33981976;34087483;34171305;34185709;34509645;35051231;35251023;35318648;35494241;35580925;36010968;36215666;36241641;37074911;37167718;37653272;37938771;38228874;39302247;8411712;8507690;8706931;9345306", "class_list": "", "function": "A polymorphism in ABCA2 is associated with neutropenia induced by capecitabine in Japanese patients with colorectal cancer., [RefSeq, PubMed]; Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability. Erratum:[J Hum Genet. 2026 Jan;71(1):59-62. doi: 10.1038/s10038-025-01422-1. PMID: 41207891], [RefSeq, PubMed]; Probable lipid transporter that modulates cholesterol sequestration in the late endosome/lysosome by regulating the intracellular sphingolipid metabolism, in turn participates in cholesterol homeostasis (Probable) (PubMed:15238223, PubMed:21810484, PubMed:24201375). May alter the transbilayer distribution of ceramide in the intraluminal membrane lipid bilayer, favoring its retention in the outer leaflet that results in increased acid ceramidase activity in the late endosome/lysosome, facilitating ceramide deacylation to sphingosine leading to the sequestration of free cholesterol in lysosomes (PubMed:24201375). In addition regulates amyloid-beta production either by activating a signaling pathway that regulates amyloid precursor protein transcription through the modulation of sphingolipid metabolism or through its role in gamma-secretase processing of APP (PubMed:22086926, PubMed:26510981). May play a role in myelin formation (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups. Publication Status: Online-Only, [RefSeq, PubMed]; Role of ABCA2 and its single nucleotide polymorphisms (4873T>A and 4879G>C) in the regulation of multi-drug resistance in oral squamous carcinoma cells., [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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 16, "predicted_n_glycosites": 16, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 10, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "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": 66, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 14, "disease_count": 1, "glyco_site_count": 27, "binding_glycan_count": 0, "secondary_ac_list": "A6NED5;Q5SPY5;Q5W9G5;Q76MW7;Q9HC28", "ec_number_list": "7.6.2.-", "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0000166 nucleotide binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005764 lysosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0032289 central nervous system myelin formation;GO:0006629 lipid metabolic process;GO:0006869 lipid transport;GO:0007626 locomotory behavior;GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q9BZC7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBB9-1", "uniprot_id": "TFP11_HUMAN", "mass": 96820.0, "length": 837, "protein_name": "Tuftelin-interacting protein 11", "gene_name": "TFIP11", "organism": "Human", "refseq_name": "tuftelin-interacting protein 11 isoform 1", "refseq_ac": "NP_001008697", "gene_names_uniprotkb": "TFIP11; HSPC006; STIP", "gene_names_refseq": "NTR1; STIP-1; STIP; Spp382; TFIP11; TIP39; bK445C9.6", "protein_names_uniprotkb": "Tuftelin-interacting protein 11; STIP-1; Septin and tuftelin-interacting protein 1", "protein_names_refseq": "septin and tuftelin-interacting protein 1; sip1/tuftelin interacting protein; tuftelin-interacting protein 11 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:24144); (R-HSA-72163)", "pathway_count": 2, "publication_count": 163, "publication_id_list": "10882114;11014198;11101529;11230166;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;15302935;15868102;16314458;16809785;17081983;17095540;17332742;17606899;18322460;18452278;18477386;18593880;18669648;18767875;18991276;19103666;19165350;19413330;19536130;19651622;19664994;19664995;19690332;20058876;20068231;20166139;20423332;20980672;21406692;21536652;2176635;21993680;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23345524;23481700;24196718;24304693;24448447;24714562;24715725;24737827;24914973;25418920;25555158;25576301;2558966;25645385;25802875;25892735;26154972;26375851;26385511;26420826;26728094;26969736;26992070;27377154;27397612;27459055;27600516;27683217;27846572;27862975;28062851;28076346;28218747;28502770;28510447;28781166;28832583;28904123;29242379;29301961;29360106;29361316;29393594;29437277;29493099;29557506;2963332;30315277;30429286;30484775;30705154;30728453;30765414;30975767;31217245;31409651;31844290;32157095;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33243851;33392160;33446560;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34301950;34509645;34789764;34822310;34932366;35051231;35318648;35385551;35561310;35580925;36010968;36215666;36241641;36284347;36581221;3757028;37938771;38341452;40914422;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "DHX15-independent roles for TFIP11 in U6 snRNA modification, U4/U6.U5 tri-snRNP assembly and pre-mRNA splicing fidelity. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. Intron turnover seems to proceed through reactions in two lariat-intron associated complexes termed Intron Large (IL) and Intron Small (IS). In cooperation with DHX15 seems to mediate the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extracellular matrix., [UniProtKB, PubMed]; TFIP11 is a novel splicing factor and transfected TFIP11-GFP fusion protein was found to locate in a novel subnuclear TFIP body., [RefSeq, PubMed]; TFIP11 promotes replication fork reversal to preserve genome stability. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein component of the spliceosome that promotes the release of the lariat-intron during late-stage splicing through the recruitment of a pre-mRNA splicing factor called DEAH-box helicase 15. The encoded protein contains a G-patch domain, a hallmark of RNA-processing proteins, that binds DEAH-box helicase 15. This protein contains an atypical nuclear localization sequence as well as a nuclear speckle-targeting sequence, enabling it to localize to distinct speckled regions within the cell nucleus. Polymorphisms in this gene are associated with dental caries suggesting a role in amelogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 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": 7, "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": "O95908;Q20WL0;Q5H8V8;Q9UGV7;Q9Y2Q8", "ec_number_list": "", "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006396 RNA processing;GO:0031848 protection from non-homologous end joining at telomere;GO:0031333 negative regulation of protein-containing complex assembly;GO:0031214 biomineral tissue development;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "Q9UBB9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NUX5-1", "uniprot_id": "POTE1_HUMAN", "mass": 71442.0, "length": 634, "protein_name": "Protection of telomeres protein 1", "gene_name": "POT1", "organism": "Human", "refseq_name": "protection of telomeres protein 1 isoform 4", "refseq_ac": "NP_001036059", "gene_names_uniprotkb": "POT1", "gene_names_refseq": "CMM10; CRMCC3; GLM9; HPOT1; PFBMFT8; POT1; TPDS3", "protein_names_uniprotkb": "Protection of telomeres protein 1; POT1-like telomere end-binding protein; hPot1", "protein_names_refseq": "POT1-like telomere end-binding protein; protection of telomeres 1 homolog; protection of telomeres protein 1 isoform 4", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); lung cancer (Disease Ontology:DOID:1324); cholecystitis (Disease Ontology:DOID:1949); ovarian cancer (Disease Ontology:DOID:2394); hepatocellular carcinoma (Disease Ontology:DOID:684); familial melanoma (Disease Ontology:DOID:6846); colorectal cancer (Disease Ontology:DOID:9256); tumor predisposition syndrome 3 (MONDO:MONDO:0014368); pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 (MONDO:MONDO:0957263); cerebroretinal microangiopathy with calcifications and cysts 3 (MONDO:MONDO:0957264)", "pathway": " (hsa:25913); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-171319); (R-HSA-174411); (R-HSA-174414); (R-HSA-174417); (R-HSA-174430); (R-HSA-174437); (R-HSA-2559586); (R-HSA-9670095)", "pathway_count": 15, "publication_count": 196, "publication_id_list": "10037601;10074426;10323868;10329413;10669743;10706276;10882850;10930409;11056019;11237011;11349150;11454856;11673449;11904416;12097317;12140329;12391173;12393752;12456671;12556884;12699629;12718543;12766176;12768206;12781132;12930902;12953102;14532133;14715659;15007108;15060173;15064416;15066120;15125634;15189140;15231715;15235794;15316005;15341901;15369670;15383534;15458641;15510216;15558049;15655109;15790808;15973431;16141325;16166375;16221681;16262255;16314528;16339074;16522649;16858402;17172855;17237768;17395830;17512402;17694070;17923702;18358808;18438399;18523010;18593712;19146767;19179534;1924375;19383767;19734544;1974050;19783983;19854130;20211137;20231318;20404094;20524933;20551483;20634189;20639858;20651253;21722948;22460582;22569481;22579284;22848106;22871736;22962365;23103865;2342578;23481700;23604072;23657261;23755964;2392154;24038470;24115439;24686846;24686849;24714562;25128433;25240135;25271372;25482530;25576301;25593184;25620558;26055325;26095805;26154972;26728094;26992070;27013236;27354518;27600516;27846572;27849570;28218747;28228285;28334750;28832583;28834231;28854357;28904123;29178645;29242379;29437277;29493099;29557506;29695869;29774655;29789417;30026550;30315122;30379171;30586141;30779550;31530632;31723267;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33298915;33592498;33717175;33912179;33968037;34171305;34211107;34509645;34932366;35051231;35318648;35420632;35580925;36010968;36215666;37140166;38838667;38839987;6693436;7479006;8016081;8110764;8218289;8242751;8242752;8284199;8407958;8475094;8662714;8794855;8954124;9008167;9187114;9207108;9223305;9223306;9285814;9321410;9430628;9705289;9733514;9733515;9790531;9811839;9822671;9843217;9890904", "class_list": "", "function": "Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and with high specificity to a minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. Binds telomeric single-stranded sequences internally or at proximity of a 3'-end. Its activity is TERT dependent but it does not increase TERT activity by itself. In contrast, the ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Data show that epitope-tagged human protection of telomeres protein (Pot1) localizes to telomeres in interphase nuclei of human cells, consistent with a direct role in telomere end protection., [RefSeq, PubMed]; Determines the structure of the 3' and 5' ends of human chromosomes, [RefSeq, PubMed]; HPOT1 can act as a telomerase-dependent, positive regulator of telomere length, [RefSeq, PubMed]; POT1 recruits and regulates CST-Polalpha/primase at human telomeres., [RefSeq, PubMed]; POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program., [RefSeq, PubMed]; The interaction between the TRF1 complex and POT1 affects the loading of POT1 on the single-stranded telomeric DNA, thus transmitting information about telomere length to the telomere terminus, where telomerase is regulated, [RefSeq, PubMed]; This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O95018;Q5MJ36;Q9H662;Q9NW19;Q9UG95", "ec_number_list": "", "go_molecular_function": "GO:1990955 G-rich single-stranded DNA binding;GO:0098505 G-rich strand telomeric DNA binding;GO:0042162 telomeric DNA binding;GO:0017151 DEAD/H-box RNA helicase binding;GO:0061821 telomeric D-loop binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000783 nuclear telomere cap complex;GO:0070187 shelterin complex;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0060383 positive regulation of DNA strand elongation;GO:0016233 telomere capping;GO:0032202 telomere assembly;GO:0032211 negative regulation of telomere maintenance via telomerase;GO:0032212 positive regulation of telomere maintenance via telomerase", "synthesized_glycan_count": 0, "hit_score": 19.9, "record_id": "Q9NUX5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00400-1", "uniprot_id": "ACATN_HUMAN", "mass": 60909.0, "length": 549, "protein_name": "Acetyl-coenzyme A transporter 1", "gene_name": "SLC33A1", "organism": "Human", "refseq_name": "acetyl-coenzyme A transporter 1 isoform 1", "refseq_ac": "NP_001177921", "gene_names_uniprotkb": "SLC33A1; ACATN; AT1", "gene_names_refseq": "ACATN; AT-1; AT1; CCHLND; HPBDS; SLC33A1; SPG42", "protein_names_uniprotkb": "Acetyl-coenzyme A transporter 1; AT-1; Acetyl-CoA transporter 1; Solute carrier family 33 member 1", "protein_names_refseq": "acetyl-coenzyme A transporter 1 isoform 1; acetyl-coenzyme A transporter 1; solute carrier family 33 (acetyl-CoA transporter), member 1", "tax_id": 9606, "disease": "hereditary spastic paraplegia 42 (Disease Ontology:DOID:0110794); Huppke-Brendel syndrome (MONDO:MONDO:0013772)", "pathway": " (hsa:9197); (R-HSA-425397); (R-HSA-5619061)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "10.1101/2023.09.13.557529;10329687;10334869;11237011;16959974;18691976;19061983;20826464;21183659;22243965;23186163;24715725;24828632;25402622;25576301;25880248;26154972;26375851;27600516;27846572;27862975;28218747;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29786170;30315122;30429286;30779550;30833945;31154438;31217245;31222486;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32488085;32938616;32983136;33091337;33123756;33298915;33479349;33592498;33912179;33936100;33968037;33981976;34087483;34211107;34357683;34414377;34932366;35051231;35580925;36241641;9096318", "class_list": "", "function": "A missense mutation in SLC33A1 causes autosomal-dominant spastic paraplegia., [RefSeq, PubMed]; Acetyl-CoA flux from the cytosol to the ER regulates engagement and quality of the secretory pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Acetyl-CoA transporter that mediates active acetyl-CoA import through the endoplasmic reticulum (ER) membrane into the ER lumen where specific ER-based acetyl-CoA:lysine acetyltransferases are responsible for the acetylation of ER-based protein substrates, such as BACE1 (PubMed:20826464, PubMed:24828632). Necessary for O-acetylation of gangliosides (PubMed:9096318)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Keap1 mutation renders lung adenocarcinomas dependent on Slc33a1. Erratum:[Nat Cancer. 2020 Sep;1(9):935. doi: 10.1038/s43018-020-00118-z. PMID: 35121957], [RefSeq, PubMed]; The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R5Q2;D3DNK4", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0008521 acetyl-CoA transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0055085 transmembrane transport;GO:0035348 acetyl-CoA transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "O00400-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NY61-1", "uniprot_id": "AATF_HUMAN", "mass": 63133.0, "length": 560, "protein_name": "Protein AATF", "gene_name": "AATF", "organism": "Human", "refseq_name": "protein AATF isoform 1", "refseq_ac": "NP_036270", "gene_names_uniprotkb": "AATF; CHE1; DED; HSPC277", "gene_names_refseq": "AATF; BFR2; CHE-1; CHE1; DED", "protein_names_uniprotkb": "Protein AATF; Apoptosis-antagonizing transcription factor; Rb-binding protein Che-1", "protein_names_refseq": "protein AATF isoform 1; protein AATF; rb-binding protein Che-1", "tax_id": 9606, "disease": "chromosome 17q12 deletion syndrome (Disease Ontology:DOID:0060404)", "pathway": " (hsa:26574); (R-HSA-193648)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10783144;11027528;11237011;11756498;12097334;12429849;12450794;12847090;14627703;14673001;14697667;15207272;15470142;16565220;17081983;17157788;18452278;18669648;19007248;19413330;19651622;19690332;19691289;20068231;20112406;21406692;22909821;23186163;23301498;24715725;24958902;25418920;25645385;25802875;25880248;26154972;26768311;26992070;27543614;27600516;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;32157095;32161166;32265295;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33392160;33465208;33537174;33592498;33912179;33936100;33968037;34087483;34171305;34185709;34266450;34405274;34509645;34516797;34561969;34932366;35051231;35580925;36010968;36215666;36241641;36284347;37742722;39408701;40596516;40914422;9520479", "class_list": "", "function": "CK2-mediated phosphorylation of Che-1/AATF is required for its pro-proliferative activity. Publication Status: Online-Only, [RefSeq, PubMed]; HAX1 is a novel binding partner of Che-1/AATF. Implications in oxidative stress cell response., [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). May function as a general inhibitor of the histone deacetylase HDAC1. Binding to the pocket region of RB1 may displace HDAC1 from RB1/E2F complexes, leading to activation of E2F target genes and cell cycle progression. Conversely, displacement of HDAC1 from SP1 bound to the CDKN1A promoter leads to increased expression of this CDK inhibitor and blocks cell cycle progression. Also antagonizes PAWR mediated induction of aberrant amyloid peptide production in Alzheimer disease (presenile and senile dementia), although the molecular basis for this phenomenon has not been described to date., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008]., [RefSeq]; Vinblastine Resistance Is Associated with Nephronophthisis 3-Mediated Primary Cilia via Intraflagellar Transport Protein 88 and Apoptosis-Antagonizing Transcription Factor. 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": 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": 26, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NCJ6;B3KQ26;Q9P0A4;Q9UNX5", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0043522 leucine zipper domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005667 transcription regulator complex;GO:0032040 small-subunit processome", "go_biological_process": "GO:0030968 endoplasmic reticulum unfolded protein response;GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q9NY61-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NHS2-1", "uniprot_id": "AATC2_HUMAN", "mass": 47305.0, "length": 421, "protein_name": "Aspartate aminotransferase, cytoplasmic 2", "gene_name": "GOT1L1", "organism": "Human", "refseq_name": "putative aspartate aminotransferase, cytoplasmic 2", "refseq_ac": "NP_689626", "gene_names_uniprotkb": "GOT1L1", "gene_names_refseq": "GOT1L1", "protein_names_uniprotkb": "Aspartate aminotransferase, cytoplasmic 2; 2.6.1.1; Glutamate oxaloacetate transaminase 1-like protein 1; Transaminase A-like protein 1", "protein_names_refseq": "glutamate oxaloacetate transaminase 1-like protein 1; putative aspartate aminotransferase, cytoplasmic 2; transaminase A-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:137362)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;17494625;22360420;25287256;25646960;29557506", "class_list": "", "function": "A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration., [RefSeq, PubMed]; Catalyzes the conversion of L-aspartate and 2-oxoglutarate to L-glutamate and oxaloacetate (PubMed:25287256). It has been proposed to exhibit aspartate racemase activity, but this function remains debated and lacks strong experimental support (PubMed:25287256)., [UniProtKB, PubMed]; Neither human hexokinase-1 nor human inorganic pyrophosphatase expression segregated concordantly with human cytoplasmic glutamic-oxaloacetic transaminase expression., [RefSeq, PubMed]; The rat and human homologs of mouse GOT1L1 are not involved in D-aspartate 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8MWL4", "ec_number_list": "2.6.1.7;2.6.1.1;2.6.1.3", "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0004069 L-aspartate:2-oxoglutarate aminotransferase activity;GO:0008483 transaminase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006532 aspartate biosynthetic process;GO:0006520 amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NHS2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q4AC99-1", "uniprot_id": "1A1L2_HUMAN", "mass": 65249.0, "length": 568, "protein_name": "Probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2", "gene_name": "ACCSL", "organism": "Human", "refseq_name": "probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2 isoform 1", "refseq_ac": "NP_001027025", "gene_names_uniprotkb": "ACCSL", "gene_names_refseq": "ACCSL", "protein_names_uniprotkb": "Probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2; ACC synthase-like protein 2", "protein_names_refseq": "1-aminocyclopropane-1-carboxylate synthase (inactive)-like; 1-aminocyclopropane-1-carboxylate synthase homolog(non-functional)-like; 1-aminocyclopropane-1-carboxylate synthase-like protein 2; ACC synthase-like protein 2; probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2 isoform 1; probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:390110)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;26154972;29557506;32157095;32350084;33392160;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": 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:0030170 pyridoxal phosphate binding;GO:0008483 transaminase activity", "go_cellular_component": "", "go_biological_process": "GO:0006520 amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q4AC99-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5BKT4-1", "uniprot_id": "AG10A_HUMAN", "mass": 55606.0, "length": 473, "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "gene_name": "ALG10", "organism": "Human", "refseq_name": "dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A", "refseq_ac": "NP_116223", "gene_names_uniprotkb": "ALG10; ALG10A", "gene_names_refseq": "ALG10A; ALG10; DIE2; KCR1", "protein_names_uniprotkb": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A; 2.4.1.256; Alpha-1,2-glucosyltransferase ALG10-A; Alpha-2-glucosyltransferase ALG10-A; Asparagine-linked glycosylation protein 10 homolog A", "protein_names_refseq": "alpha-1,2-glucosyltransferase ALG10-A; alpha-2-glucosyltransferase ALG10-A; alpha2-glucosyltransferase; asparagine-linked glycosylation 10 homolog (yeast, alpha-1,2-glucosyltransferase); asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog; asparagine-linked glycosylation protein 10 homolog A; derepression of ITR1 expression 2 homolog; dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A; dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase; dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase; potassium channel regulator 1", "tax_id": 9606, "disease": "nonsyndromic deafness (Disease Ontology:DOID:0050563)", "pathway": " (hsa:84920); (R-HSA-446193)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10359825;10704531;11237011;11278778;11807558;11983712;12030331;12200473;12684507;12872255;14709599;14973778;14973782;15148656;15235028;15280551;15710750;15840742;15945070;16007612;16100110;16859551;16878994;18313027;18597486;19204726;19282279;22742743;23555621;24715725;26154972;26992070;27846572;27862975;28904123;30315122;30484775;30620550;30833945;31154438;31222486;31844290;31848261;32157095;32350084;32357974;32387766;32897882;32938616;33912179;33968037;34171305;34185709;34357683;35051231;35254053;35580925;36010968;36215666;36241641;36284347;37938771;9451016;9597543", "class_list": "glycogene;glycosyltransferase", "function": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. In the lumen of the endoplasmic reticulum, adds the third and last glucose residue from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide intermediate Glc(2)Man(9)GlcNAc(2)-PP-Dol to produce Glc(3)Man(9)GlcNAc(2)-PP-Dol., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 606, "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": "Q6NS98;Q96DU0;Q96SM6", "ec_number_list": "2.4.1.256", "go_molecular_function": "GO:0106073 dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006488 dolichol-linked oligosaccharide biosynthetic process;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 41, "hit_score": 6.7, "record_id": "Q5BKT4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3I5F7-1", "uniprot_id": "ACOT6_HUMAN", "mass": 46789.0, "length": 421, "protein_name": "Acyl-coenzyme A thioesterase 6", "gene_name": "ACOT6", "organism": "Human", "refseq_name": "acyl-coenzyme A thioesterase 6 isoform 2", "refseq_ac": "NP_001032239", "gene_names_uniprotkb": "ACOT6; C14orf42", "gene_names_refseq": "ACOT6; C14orf42; c14_5530", "protein_names_uniprotkb": "Acyl-coenzyme A thioesterase 6; 3.1.2.-; Acyl-CoA thioesterase 6", "protein_names_refseq": "acyl-coenzyme A thioesterase 6 isoform 2; putative acyl-CoA thioesterase 6; putative acyl-coenzyme A thioesterase 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:641372)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;16940157", "class_list": "", "function": "Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels. Catalyzes the hydrolysis of phytanoyl-CoA and pristanoyl-CoA, two methyl-branched fatty acids derived from phytol, that enter the body via the diet., [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": "A0A2R8Y7H3", "ec_number_list": "3.1.2.-;7.6.2.-", "go_molecular_function": "GO:0047617 fatty acyl-CoA hydrolase activity;GO:0052689 carboxylic ester hydrolase activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005829 cytosol", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0006637 acyl-CoA metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q3I5F7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5JWF8-1", "uniprot_id": "ACL10_HUMAN", "mass": 26751.0, "length": 245, "protein_name": "Actin-like protein 10", "gene_name": "ACTL10", "organism": "Human", "refseq_name": "actin-like protein 10", "refseq_ac": "NP_001019846", "gene_names_uniprotkb": "ACTL10; C20orf134", "gene_names_refseq": "ACTL10; C20orf134; dJ63M2.2", "protein_names_uniprotkb": "Actin-like protein 10", "protein_names_refseq": "actin-like protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:170487)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "23481700;29242379;29493099;31844290;31848261;33298915;33912179;34561969;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": "B9EH76", "ec_number_list": "", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton", "go_cellular_component": "GO:0015629 actin cytoskeleton", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q5JWF8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5QJU3-1", "uniprot_id": "ACER2_HUMAN", "mass": 31309.0, "length": 275, "protein_name": "Alkaline ceramidase 2", "gene_name": "ACER2", "organism": "Human", "refseq_name": "alkaline ceramidase 2", "refseq_ac": "NP_001010887", "gene_names_uniprotkb": "ACER2; ASAH3L; PP11646", "gene_names_refseq": "ACER2; ALKCDase2; ASAH3L", "protein_names_uniprotkb": "Alkaline ceramidase 2; 3.5.1.-; 3.5.1.23; Acylsphingosine deacylase 3-like; AlkCDase 2; Alkaline CDase 2; N-acylsphingosine amidohydrolase 3-like; haCER2", "protein_names_refseq": "alkCDase 2; alkaline CDase 2; alkaline ceramidase 2; ceramide hydrolase; haCER2", "tax_id": 9606, "disease": "", "pathway": " (hsa:340485); (R-HSA-9845614)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "11018465;11356846;12411432;12815058;15498874;16782891;16940153;17379599;17382292;17713573;18558101;18619555;18945876;20068046;20089856;20207939;20628055;20699116;23721920;25286108;26943039;27126290;28294157;29229990;30090628;30575723;30635364;31844290;33093451;33912179;35051231;36513872;37865189;9705349", "class_list": "", "function": "ACER2 has broad substrate specificity and requires Ca(2+) for its activity; ACER2 has the cytosolic C terminus and luminal N terminus, which are essential for its activity, correct cellular localization, and regulation for protein glycosylation, [RefSeq, PubMed]; ACER2/sphingosine pathway plays an important role in regulating beta1 maturation and cell adhesion mediated by beta1 integrins, [RefSeq, PubMed]; Golgi ceramidase that catalyzes the hydrolysis of ceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH (PubMed:16940153, PubMed:18945876, PubMed:20089856, PubMed:20207939). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:20207939). Has a better catalytic efficiency towards unsaturated long-chain ceramides, including C18:1-, C20:1- and C24:1-ceramides (PubMed:16940153, PubMed:18945876, PubMed:20089856, PubMed:20207939). Saturated long-chain ceramides and unsaturated very long-chain ceramides are also good substrates, whereas saturated very long-chain ceramides and short-chain ceramides are poor substrates (PubMed:20089856). Also hydrolyzes dihydroceramides to produce dihydrosphingosine (PubMed:20207939, PubMed:20628055). It is the ceramidase that controls the levels of circulating sphingosine-1-phosphate and dihydrosphingosine-1-phosphate in plasma through their production by hematopoietic cells (By similarity). Regulates cell proliferation, autophagy and apoptosis by the production of sphingosine and sphingosine-1-phosphate (PubMed:16940153, PubMed:26943039, PubMed:28294157, PubMed:29229990). As part of a p53/TP53-dependent pathway, promotes for instance autophagy and apoptosis in response to DNA damage (PubMed:26943039, PubMed:28294157, PubMed:29229990). Through the production of sphingosine, may also regulate the function of the Golgi complex and regulate the glycosylation of proteins (PubMed:18945876)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; MiR-196a-5p Correlates with Chronic Atrophic Gastritis Progression to Gastric Cancer and Induces Malignant Biological Behaviors of Gastric Cancer Cells by Targeting ACER2., [RefSeq, PubMed]; TIMELESS regulates sphingolipid metabolism and tumor cell growth through Sp1/ACER2/S1P axis in ER-positive breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting YTHDF2 inhibits tumorigenesis of diffuse large B-cell lymphoma through ACER2-mediated ceramide catabolism., [RefSeq, PubMed]; The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010]., [RefSeq]; These results suggest that p53 mediates DDR and exerts its tumor suppressive role in part by regulating the expression of ACER2, which in turn regulates the bioactive sphingolipid lipids., [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": 1, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2A3R8;Q569G5;Q5VZR7;Q71RD2", "ec_number_list": "3.5.1.23;3.5.1.60;3.5.1.-;3.5.1.109", "go_molecular_function": "GO:0046872 metal ion binding;GO:0017040 N-acylsphingosine amidohydrolase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0030149 sphingolipid catabolic process;GO:0008284 positive regulation of cell population proliferation;GO:0010506 regulation of autophagy;GO:0046512 sphingosine biosynthetic process;GO:0046514 ceramide catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q5QJU3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NF67-1", "uniprot_id": "A2012_HUMAN", "mass": 31171.0, "length": 263, "protein_name": "Putative ankyrin repeat domain-containing protein 20A12", "gene_name": "ANKRD20A12P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ANKRD20A12P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ankyrin repeat domain-containing protein 20A12", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "32938616;34087483", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8NF67-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WXI4-1", "uniprot_id": "ACO11_HUMAN", "mass": 68492.0, "length": 607, "protein_name": "Acyl-coenzyme A thioesterase 11", "gene_name": "ACOT11", "organism": "Human", "refseq_name": "acyl-coenzyme A thioesterase 11 isoform 1", "refseq_ac": "NP_056362", "gene_names_uniprotkb": "ACOT11; BFIT; KIAA0707; THEA", "gene_names_refseq": "ACOT11; BFIT; STARD14; THEA; THEM1", "protein_names_uniprotkb": "Acyl-coenzyme A thioesterase 11; 3.1.2.-; 3.1.2.2; Acyl-CoA thioester hydrolase 11; Acyl-CoA thioesterase 11; Adipose-associated thioesterase; BFIT; Brown fat-inducible thioesterase; Palmitoyl-coenzyme A thioesterase", "protein_names_refseq": "START domain containing 14; StAR-related lipid transfer (START) domain containing 14; acyl-CoA thioester hydrolase 11; acyl-coenzyme A thioesterase 11 isoform 1; acyl-coenzyme A thioesterase 11; adipose-associated thioesterase; brown fat-inducible thioesterase; palmitoyl-coenzyme A thioesterase; thioesterase superfamily member 1; thioesterase, adipose associated", "tax_id": 9606, "disease": "", "pathway": " (hsa:26027); (R-HSA-77289)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "11696000;12882974;15638818;16423998;16934754;16940157;17693683;17762044;17953517;18268358;18452278;19170545;20338778;20470824;21237683;21738568;22465940;22586271;22871024;22897136;23700546;23901139;24080521;24732803;25002576;25418920;26290611;28832583;29393594;29557506;30379171;30620550;32157095;32350084;32820071;33981976;34171305;34185709;35051231;4721607;8241273", "class_list": "", "function": "Allosteric regulation of thioesterase superfamily member 1 by lipid sensor domain binding fatty acids and lysophosphatidylcholine., [RefSeq, PubMed]; BFIT supports the transition of thermogenic brown adipose tissue towards increased metabolic activity, probably through alteration of intracellular fatty acyl-CoA concentration., [RefSeq, PubMed]; Has an acyl-CoA thioesterase activity with a preference for the long chain fatty acyl-CoA thioesters hexadecanoyl-CoA/palmitoyl-CoA and tetradecanoyl-CoA/myristoyl-CoA which are the main substrates in the mitochondrial beta-oxidation pathway., [UniProtKB, PubMed]; The N-terminal region of human fat inducible thioesterase variant 2 constitutes a mitochondrial location signal sequence, which undergoes mitochondrion-dependent posttranslational cleavage., [RefSeq, PubMed]; This gene encodes a member of the acyl-CoA thioesterase family which catalyse the conversion of activated fatty acids to the corresponding non-esterified fatty acid and coenzyme A. Expression of a mouse homolog in brown adipose tissue is induced by low temperatures and repressed by warm temperatures. Higher levels of expression of the mouse homolog has been found in obesity-resistant mice compared with obesity-prone mice, suggesting a role of acyl-CoA thioesterase 11 in obesity. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B1AQ22;D3DQ50;O75187;Q52LP1;Q53ER9;Q96DI1;Q9H883", "ec_number_list": "3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;3.1.1.4;3.1.1.5;3.1.2.-;2.3.1.16;2.3.1.9;3.1.2.22;2.3.1.65;3.5.2.6;3.1.2.14", "go_molecular_function": "GO:0047617 fatty acyl-CoA hydrolase activity;GO:0052689 carboxylic ester hydrolase activity;GO:0008289 lipid binding;GO:0052816 long-chain fatty acyl-CoA hydrolase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0006637 acyl-CoA metabolic process;GO:0009409 response to cold;GO:0035556 intracellular signal transduction;GO:0009266 response to temperature stimulus", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q8WXI4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WYK0-1", "uniprot_id": "ACO12_HUMAN", "mass": 62034.0, "length": 555, "protein_name": "Acetyl-coenzyme A thioesterase", "gene_name": "ACOT12", "organism": "Human", "refseq_name": "acetyl-coenzyme A thioesterase", "refseq_ac": "NP_570123", "gene_names_uniprotkb": "ACOT12; CACH1; CACH; STARD15", "gene_names_refseq": "ACOT12; CACH-1; Cach; STARD15; THEAL", "protein_names_uniprotkb": "Acetyl-coenzyme A thioesterase; 3.1.2.1; Acyl-CoA thioester hydrolase 12; Acyl-CoA thioesterase 12; Acyl-coenzyme A thioesterase 12; CACH-1; Cytoplasmic acetyl-CoA hydrolase 1; START domain-containing protein 15; StARD15; hCACH-1", "protein_names_refseq": "START domain-containing protein 15; StAR-related lipid transfer (START) domain containing 15; acetyl-coenzyme A thioesterase; acyl-CoA thioester hydrolase 12; acyl-coenzyme A thioesterase 12; cytoplasmic acetyl-CoA hydrolase 1; cytosolic acetyl-CoA hydrolase; hCACH-1", "tax_id": 9606, "disease": "liver cancer (Disease Ontology:DOID:3571)", "pathway": " (hsa:134526); (R-HSA-77289)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "11696000;12882974;15638818;16423998;16934754;16940157;16951743;17762044;17953517;18268358;19170545;20338778;20470824;21237683;21248752;22465940;22586271;22871024;23700546;23901139;24080521;24732803;25002576;26290611;29557506;31154438;34285335;35986010;37938771;4721607;8241273", "class_list": "", "function": "Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels (PubMed:16951743). Preferentially hydrolyzes acetyl-CoA (PubMed:16951743)., [UniProtKB, PubMed]; Exosomal miR-155-5p derived from glioma stem-like cells promotes mesenchymal transition via targeting ACOT12. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of Acot12 contributes to NAFLD independent of lipolysis of adipose tissue., [RefSeq, PubMed]; The human CACH cDNA encodes a 555-amino-acid sequence that is 81.4%/78.7% identical to those of the mouse/rat homologue, suggesting a conserved role for this enzyme in the human and rodent livers., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KVK9;Q5FWE9", "ec_number_list": "3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;3.1.2.-;2.3.1.16;2.3.1.9", "go_molecular_function": "GO:0003986 acetyl-CoA hydrolase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0052689 carboxylic ester hydrolase activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0006637 acyl-CoA metabolic process;GO:0006084 acetyl-CoA metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q8WYK0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96IU4-1", "uniprot_id": "ABHEB_HUMAN", "mass": 22346.0, "length": 210, "protein_name": "Putative protein-lysine deacylase ABHD14B", "gene_name": "ABHD14B", "organism": "Human", "refseq_name": "putative protein-lysine deacylase ABHD14B isoform 1", "refseq_ac": "NP_001139786", "gene_names_uniprotkb": "ABHD14B; CIB", "gene_names_refseq": "ABHD14B; CIB; HEL-S-299", "protein_names_uniprotkb": "Putative protein-lysine deacylase ABHD14B; 2.3.1.-; Abhydrolase domain-containing protein 14B; Alpha/beta hydrolase domain-containing protein 14B; CCG1-interacting factor B", "protein_names_refseq": "CCG1-interacting factor B; CCG1/TAFII250-interacting factor B; abhydrolase domain-containing protein 14B; alpha/beta hydrolase domain-containing protein 14B; cell cycle gene 1-interacting factor B; epididymis secretory protein Li 299; epididymis secretory sperm binding protein; protein ABHD14B; putative protein-lysine deacylase ABHD14B isoform 1; putative protein-lysine deacylase ABHD14B", "tax_id": 9606, "disease": "", "pathway": " (hsa:84836); (R-HSA-156584)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10199779;10224133;10503886;10512730;11053859;11077054;11154739;11237011;11457664;11739018;12039030;12145317;12372849;12889478;14622112;14672934;15358107;18606703;18672380;20068231;2268288;23479625;23481380;24275569;24715725;25645385;28514659;28832583;29242379;29557506;31154438;31478652;31844290;32157095;32161166;32350084;32897882;32983136;33298915;33592498;33691108;33968037;34019948;34357683;34561969;35051231;35251023;36241641;6139755;6770210;7678732;7779757;8185618;8697101;9034160;9463486;9501187;9566739;9852044", "class_list": "", "function": "ABHD14B is a lysine deacetylase that transfers an acetyl group on a lysine residue to coenzyme A., [RefSeq, PubMed]; Acts as an atypical protein-lysine deacetylase in vitro (PubMed:31478652). Catalyzes the deacetylation of lysine residues using CoA as substrate, generating acetyl-CoA and the free amine of protein-lysine residues (PubMed:31478652). Additional experiments are however required to confirm the protein-lysine deacetylase activity in vivo (Probable). Has hydrolase activity towards various surrogate p-nitrophenyl (pNp) substrates, such as pNp-butyrate, pNp-acetate and pNp-octanoate in vitro, with a strong preference for pNp-acetate (PubMed:14672934, PubMed:31478652). May activate transcription (PubMed:14672934)., [UniProtKB, PubMed, PubMed]; Acts as an atypical protein-lysine deacetylase in vitro. Catalyzes the deacetylation of lysine residues using CoA as substrate, generating acetyl-CoA and the free amine of protein-lysine residues. Additional experiments are however required to confirm the protein-lysine deacetylase activity in vivo. Has hydrolase activity towards various surrogate p-nitrophenyl (pNp) substrates, such as pNp-butyrate, pNp-acetate and pNp-octanoate in vitro, with a strong preference for pNp-acetate. May activate transcription., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86VK8;Q8N8W5", "ec_number_list": "2.3.1.48;2.3.1.-;2.7.11.1;2.3.1.57;2.3.1.259;2.3.1.80", "go_molecular_function": "GO:0061733 protein-lysine-acetyltransferase activity;GO:0016787 hydrolase activity;GO:0016746 acyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0050427 3'-phosphoadenosine 5'-phosphosulfate metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q96IU4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96IX9-1", "uniprot_id": "A26L1_HUMAN", "mass": 14172.0, "length": 119, "protein_name": "Putative ankyrin repeat domain-containing protein 26-like 1", "gene_name": "ANKRD36BP1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ANKRD36BP1; ANKRD26L1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ankyrin repeat domain-containing protein 26-like 1; Ankyrin repeat domain-containing protein 36B pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "37217939", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96IX9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96QF7-1", "uniprot_id": "GCNA_HUMAN", "mass": 76112.0, "length": 691, "protein_name": "Germ cell nuclear acidic protein", "gene_name": "GCNA", "organism": "Human", "refseq_name": "germ cell nuclear acidic protein", "refseq_ac": "NP_443189", "gene_names_uniprotkb": "GCNA; ACRC", "gene_names_refseq": "ACRC; GCNA; NAAR1; SPGFX4", "protein_names_uniprotkb": "Germ cell nuclear acidic protein; Acidic repeat-containing protein; Germ cell nuclear acidic peptidase; Germ cell nuclear antigen", "protein_names_refseq": "acidic repeat containing; acidic repeat-containing protein; germ cell nuclear acidic protein; germ cell nuclear antigen; putative nuclear protein", "tax_id": 9606, "disease": "X-linked spermatogenic failure 4 (Disease Ontology:DOID:0070595)", "pathway": " (hsa:93953)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11714101;30379171;30914427;33963445;34413498", "class_list": "", "function": "May play a role in DNA-protein cross-links (DPCs) clearance through a SUMO-dependent recruitment to sites of DPCs, ensuring the genomic stability by protecting germ cells and early embryos from various sources of damage (PubMed:30914427). Can resolve the topoisomerase II (TOP2A) DPCs (By similarity)., [UniProtKB, UniProtKB, PubMed]; Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility., [RefSeq, PubMed]; Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure., [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": 4, "reported_glycation": 0, "reported_snv": 55, "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": "B9EG62", "ec_number_list": "", "go_molecular_function": "GO:0032184 SUMO polymer binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016605 PML body;GO:0005694 chromosome", "go_biological_process": "GO:0106300 protein-DNA covalent cross-linking repair", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q96QF7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96QU6-1", "uniprot_id": "1A1L1_HUMAN", "mass": 57324.0, "length": 501, "protein_name": "1-aminocyclopropane-1-carboxylate synthase-like protein 1", "gene_name": "ACCS", "organism": "Human", "refseq_name": "1-aminocyclopropane-1-carboxylate synthase-like protein 1", "refseq_ac": "NP_001120691", "gene_names_uniprotkb": "ACCS; PHACS", "gene_names_refseq": "ACCS; ACS; PHACS", "protein_names_uniprotkb": "1-aminocyclopropane-1-carboxylate synthase-like protein 1; ACC synthase-like protein 1", "protein_names_refseq": "1-aminocyclopropane-1-carboxylate synthase-like protein 1; ACC synthase-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84680)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;11470512;16959974;20453000;26154972;26992070;27397612;28832583;29242379;29557506;30429286;32157095;32387766;33968037;34509645;35051231;39894887", "class_list": "", "function": "Does not catalyze the synthesis of 1-aminocyclopropane-1-carboxylate but is capable of catalyzing the deamination of L-vinylglycine., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "B4E219;Q8WUL4;Q96LX5", "ec_number_list": "", "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0042802 identical protein binding;GO:0008483 transaminase activity", "go_cellular_component": "", "go_biological_process": "GO:0006520 amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q96QU6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99758-1", "uniprot_id": "ABCA3_HUMAN", "mass": 191362.0, "length": 1704, "protein_name": "Phospholipid-transporting ATPase ABCA3", "gene_name": "ABCA3", "organism": "Human", "refseq_name": "phospholipid-transporting ATPase ABCA3", "refseq_ac": "NP_001080", "gene_names_uniprotkb": "ABCA3; ABC3", "gene_names_refseq": "ABC-C; ABC3; ABCA3; EST111653; LBM180; SMDP3", "protein_names_uniprotkb": "Phospholipid-transporting ATPase ABCA3; 7.6.2.1; 7.6.2.2; ABC-C transporter; ATP-binding cassette 3; ATP-binding cassette sub-family A member 3; ATP-binding cassette transporter 3; Xenobiotic-transporting ATPase ABCA3", "protein_names_refseq": "ABC transporter 3; ABC-C transporter; ATP-binding cassette sub-family A member 3; ATP-binding cassette transporter 3; ATP-binding cassette, sub-family A (ABC1), member 3; phospholipid-transporting ATPase ABCA3; xenobiotic-transporting ATPase ABCA3", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); neonatal respiratory failure (Disease Ontology:DOID:11161); respiratory failure (Disease Ontology:DOID:11162); pulmonary alveolar proteinosis (Disease Ontology:DOID:12120); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); interstitial lung disease (Disease Ontology:DOID:3082); lung disease (Disease Ontology:DOID:850)", "pathway": " (hsa:21); (R-HSA-1369062); (R-HSA-5683678); (R-HSA-5683826); (R-HSA-5688399)", "pathway_count": 5, "publication_count": 140, "publication_id_list": "10.1101/2023.09.13.557529;10368295;10485905;10496952;10551832;10580105;10625644;10704444;10777694;10873640;11095984;11099417;11178988;11237011;11248239;11278984;11309290;11478798;11563989;11606068;11718719;11940594;12150964;12183068;12185598;12504089;12509503;12821155;12882447;12917409;1325798;1339284;1415726;14570867;14592415;15007061;15044640;15209530;1568474;15926889;15976379;15994327;16006481;16007253;16199866;1636732;16423266;16630564;16728712;16959783;16959974;17496061;17547437;17574245;17719949;18020944;18083107;18676873;18692472;1898081;19100526;19144824;1928448;19824815;20054143;20147294;20338813;20418254;20863830;22068586;22434821;22673903;23069847;23590306;23684610;23922714;24142515;24715725;24743970;24831815;2515193;25424900;25712598;25817392;2587265;2610270;26154972;26903515;27031696;27177387;27352740;27862975;28467828;28887056;29557506;2995821;3037072;30573663;30626607;30779550;30833945;31092671;31154438;31217245;31324691;31473345;31844290;32157095;32350084;32387766;32897882;3366248;33691108;33968037;34357683;34561969;34631;35051231;35251023;35580925;36241641;3755136;37657992;3801783;38019257;38226623;38345107;38541145;7597036;8314870;8411712;8428971;8507690;8522976;8527267;8636114;8706931;9027511;9345306;9813380", "class_list": "", "function": "Catalyzes the ATP-dependent transport of phospholipids such as phosphatidylcholine and phosphoglycerol from the cytoplasm into the lumen side of lamellar bodies, in turn participates in the lamellar bodies biogenesis and homeostasis of pulmonary surfactant (PubMed:16959783, PubMed:17574245, PubMed:27177387, PubMed:28887056, PubMed:31473345). Transports preferentially phosphatidylcholine containing short acyl chains (PubMed:27177387). In addition plays a role as an efflux transporter of miltefosine across macrophage membranes and free cholesterol (FC) through intralumenal vesicles by removing FC from the cell as a component of surfactant and protects cells from free cholesterol toxicity (PubMed:25817392, PubMed:26903515, PubMed:27177387)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of ABCA3 in Newborns with Respiratory Distress Syndrome-A Pilot Study. Publication Status: Online-Only, [RefSeq, PubMed]; Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3, [RefSeq, PubMed]; Increased Expression of the ABCA1 and ABCA3 Transporter Genes is Associated with Cisplatin Resistance in Breast Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury., [RefSeq, PubMed]; Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults., [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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [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": 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": 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": 2, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 57, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RU09;Q54A95;Q6P5P9;Q92473", "ec_number_list": "7.6.2.-;7.6.2.1;7.6.2.2", "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0008559 ABC-type xenobiotic transporter activity;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0030659 cytoplasmic vesicle membrane;GO:0005770 late endosome", "go_biological_process": "GO:0006869 lipid transport;GO:0010875 positive regulation of cholesterol efflux;GO:0043129 surfactant homeostasis;GO:0030324 lung development;GO:0051384 response to glucocorticoid", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "Q99758-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZ11-1", "uniprot_id": "ADA33_HUMAN", "mass": 87739.0, "length": 813, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 33", "gene_name": "ADAM33", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 33 isoform gamma precursor", "refseq_ac": "NP_001269376", "gene_names_uniprotkb": "ADAM33; C20orf153; PRO1891", "gene_names_refseq": "ADAM33; C20orf153; DJ964F7.1", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 33; 3.4.24.-; ADAM 33", "protein_names_refseq": "ADAM 33; a disintegrin and metalloprotease 33; a disintegrin and metalloproteinase domain 33; disintegrin and metalloproteinase domain-containing protein 33 isoform gamma precursor; disintegrin and metalloproteinase domain-containing protein 33; disintegrin and reprolysin metalloproteinase family protein", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); rhinitis (Disease Ontology:DOID:4483)", "pathway": " (hsa:80332); (R-HSA-9762292)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "10320525;11237011;11814695;12110844;12535637;12768445;12975309;14659745;14676211;16773130;17081983;19237393;21618342;25466890;27846572;28740178;29110486;29242379;29557506;31844290;32938616;33982767;34848800;35051231;36091328;36977901;37372959;37499392", "class_list": "", "function": "Data describe the expression and processing of ADAM33, [RefSeq, PubMed]; Evaluation of the association between clinical parameters and ADAM33 and ORMDL3 asthma gene single-nucleotide polymorphisms with the severity of COVID-19., [RefSeq, PubMed]; Genome-wide scan on 460 Caucasian families identified a locus on chromosome 20p13 that was linked to asthma (log(10) of the likelihood ratio (LOD), 2.94) and bronchial hyperresponsiveness (LOD, 3.93), [RefSeq, PubMed]; Metalloprotease that cleaves and sheds the ectodomains of cell-surface proteins and thereby contributes to angiogenesis, cell differentiation, inflammation, and cell proliferation (PubMed:14676211, PubMed:33982767). Modulates the activity of adhesion molecules and cytokines by generating soluble forms, leading to either attenuation of cell-surface signaling or initiation of downstream intracellular signaling pathways. For instance, acts as a constitutive sheddase of kit ligand/KITLG (PubMed:14676211). Promotes and maintains a proliferative phenotype in vascular smooth muscle cells through regulation of the PI3K/AKT and ERK signaling pathways (PubMed:33982767). Additionally, enhances cell migration and regulates cytokine secretion during airway vascular remodeling via the same signaling cascades (PubMed:36091328)., [UniProtKB, PubMed, PubMed, PubMed]; Novel polymorphisms were identified in ADAM33., [RefSeq, PubMed]; Role of ADAM33 short isoform as a tumor suppressor in the pathogenesis of thyroid cancer via oncogenic function disruption of full-length ADAM33., [RefSeq, PubMed]; Silencing a disintegrin and metalloproteinase33 attenuates the proliferation of vascular smooth muscle cells via PI3K/AKT pathway: Implications in the pathogenesis of airway vascular remodeling., [RefSeq, PubMed]; The human protein shows homology with Xenopus ADAM13 (44%), human ADAM19 (40%), and human ADAM12 (39%)., [RefSeq, PubMed]; The rs16969968 Tobacco Smoking-Related Single-Nucleotide Variant Is Associated with Clinical Markers in Patients with Severe COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; The strong correlation between ADAM33 expression and airway inflammation in chronic obstructive pulmonary disease and candidate for biomarker and treatment of COPD. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A0A1K6;Q5JT75;Q5JT76;Q8N0W6", "ec_number_list": "3.4.24.-", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9BZ11-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H221-1", "uniprot_id": "ABCG8_HUMAN", "mass": 75679.0, "length": 673, "protein_name": "ATP-binding cassette sub-family G member 8", "gene_name": "ABCG8", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family G member 8 isoform 1", "refseq_ac": "NP_071882", "gene_names_uniprotkb": "ABCG8", "gene_names_refseq": "ABCG8; GBD4; STSL1; STSL", "protein_names_uniprotkb": "ATP-binding cassette sub-family G member 8; 7.6.2.-; Sterolin-2", "protein_names_refseq": "ATP-binding cassette sub-family G member 8 isoform 1; ATP-binding cassette, sub-family G (WHITE), member 8; sterolin 2", "tax_id": 9606, "disease": "gallbladder disease (Disease Ontology:DOID:0060262); sitosterolemia 1 (Disease Ontology:DOID:0070634); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); sitosterolemia (Disease Ontology:DOID:0090019); familial hyperlipidemia (Disease Ontology:DOID:1168); cholestasis (Disease Ontology:DOID:13580); arteriosclerosis (Disease Ontology:DOID:2349); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:64241); (R-HSA-1369062); (R-HSA-5679090); (R-HSA-5679096); (R-HSA-9029569)", "pathway_count": 5, "publication_count": 87, "publication_id_list": "10551832;10704444;10777694;10858438;10873640;11095984;11099417;11138003;11149950;11178988;11237011;11248239;11309290;11452359;11478798;11500512;11590207;11604492;11606068;11668628;11718719;11875109;11893785;12032151;12111378;12150943;12150964;12183068;12454263;12504089;12509503;12612088;12821155;12917409;14504269;14570867;14592415;14703507;14764426;15007061;15044640;15054092;15147902;15209530;15994327;16007253;16893193;17186944;17632509;17976197;18782758;19018975;19481530;20210363;20466882;20466885;20494359;20566875;20719861;20855588;21187453;21310851;21507939;22541735;22673513;23496987;23519696;23790976;24831815;26984517;27144356;28082258;28842423;28869506;28904123;29557506;29772548;35051231;35129276;35549507;35988751;36284347;38347599;8411712;8507690;8706931;9345306", "class_list": "", "function": "ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11452359, PubMed:15054092, PubMed:27144356). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11452359, PubMed:15054092). The heterodimer with ABCG5 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Common DNA sequence polymorphisms in the ABCG8 gene contribute to heritable variation in the plasma concentrations of the plant sterols campesterol and sitosterol., [RefSeq, PubMed]; Common variant p.D19H of the hepatobiliary sterol transporter ABCG8 increases the risk of gallstones in children., [RefSeq, PubMed]; Mutations in ATP-binding cassette proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia, [RefSeq, PubMed]; Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses. Publication Status: Online-Only, [RefSeq, PubMed]; Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program., [RefSeq, PubMed]; Structural Analysis of Cholesterol Binding and Sterol Selectivity by ABCG5/G8., [RefSeq, PubMed]; The 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 White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [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": 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": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53QN8", "ec_number_list": "7.6.2.-;7.6.2.1;7.6.2.2", "go_molecular_function": "GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0016324 apical plasma membrane;GO:0043190 ATP-binding cassette (ABC) transporter complex", "go_biological_process": "GO:0007584 response to nutrient;GO:0055085 transmembrane transport;GO:0010949 negative regulation of intestinal phytosterol absorption;GO:0030299 intestinal cholesterol absorption;GO:0033344 cholesterol efflux", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9H221-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H222-1", "uniprot_id": "ABCG5_HUMAN", "mass": 72504.0, "length": 651, "protein_name": "ATP-binding cassette sub-family G member 5", "gene_name": "ABCG5", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family G member 5", "refseq_ac": "NP_071881", "gene_names_uniprotkb": "ABCG5", "gene_names_refseq": "ABCG5; STSL2; STSL", "protein_names_uniprotkb": "ATP-binding cassette sub-family G member 5; 7.6.2.-; Sterolin-1", "protein_names_refseq": "ATP-binding cassette sub-family G member 5; ATP-binding cassette, sub-family G (WHITE), member 5; sterolin 1", "tax_id": 9606, "disease": "sitosterolemia 2 (Disease Ontology:DOID:0060983); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); sitosterolemia (Disease Ontology:DOID:0090019); cholestasis (Disease Ontology:DOID:13580); arteriosclerosis (Disease Ontology:DOID:2349); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:64240); (R-HSA-1369062); (R-HSA-5679090); (R-HSA-5679096); (R-HSA-9029569)", "pathway_count": 5, "publication_count": 84, "publication_id_list": "10551832;10704444;10777694;10858438;10873640;11095984;11099417;11138003;11149950;11178988;11248239;11309290;11452359;11478798;11500512;11590207;11604492;11606068;11668628;11718719;11875109;12032151;12150943;12150964;12183068;12454263;12504089;12509503;12612088;12821155;12917409;14504269;14570867;14592415;14703507;14764426;15007061;15044640;15054092;15147902;15209530;15994327;16007253;16893193;17186944;17632509;17976197;18782758;19481530;20210363;20466882;20466885;20494359;20566875;20719861;20855588;21187453;21310851;21507939;22541735;22673513;23496987;23519696;23790976;24831815;26984517;27144356;28082258;28842423;28869506;29772548;35051231;35557526;35580925;35705271;35988751;37217939;38108658;38347599;39136693;8411712;8507690;8706931;9345306", "class_list": "", "function": "ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11138003, PubMed:15054092, PubMed:27144356). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11138003, PubMed:15054092). The heterodimer with ABCG8 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5., [RefSeq, PubMed]; Maternal high-fat diet regulates offspring hepatic ABCG5 expression and cholesterol metabolism via the gut microbiota and its derived butyrate., [RefSeq, PubMed]; Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment., [RefSeq, PubMed]; Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses. Publication Status: Online-Only, [RefSeq, PubMed]; Structural Analysis of Cholesterol Binding and Sterol Selectivity by ABCG5/G8., [RefSeq, PubMed]; The 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 White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q2T9G2;Q96QZ2;Q96QZ3", "ec_number_list": "7.6.2.-;7.6.2.1;7.6.2.2", "go_molecular_function": "GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0016324 apical plasma membrane;GO:0043190 ATP-binding cassette (ABC) transporter complex", "go_biological_process": "GO:0007584 response to nutrient;GO:0055085 transmembrane transport;GO:0010949 negative regulation of intestinal phytosterol absorption;GO:0030299 intestinal cholesterol absorption;GO:0033344 cholesterol efflux", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9H222-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKF2-1", "uniprot_id": "ADA30_HUMAN", "mass": 88940.0, "length": 790, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 30", "gene_name": "ADAM30", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 30 preproprotein", "refseq_ac": "NP_068566", "gene_names_uniprotkb": "ADAM30; PRO5997", "gene_names_refseq": "ADAM30; svph4", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 30; 3.4.24.-; ADAM 30", "protein_names_refseq": "a disintegrin and metalloproteinase domain 30; disintegrin and metalloproteinase domain-containing protein 30 preproprotein; disintegrin and metalloproteinase domain-containing protein 30", "tax_id": 9606, "disease": "", "pathway": " (hsa:11085); (R-HSA-2534343)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "10512762;12975309;18591388;19862325;20364096;27333034;29242379;29557506;29789417;35494241;8195297", "class_list": "", "function": "Expression of a biologically inactive ADAM30 mutation did not affect amyloid beta proteins secretion., [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in lysosomal amyloid precursor protein (APP) processing by cleaving and activating CTSD/cathepsin D which leads to APP degradation (PubMed:27333034)., [UniProtKB, PubMed]; This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K8W8;Q5T3X6;Q9UKF1", "ec_number_list": "3.4.24.-;2.4.1.-;2.4.1.275;2.4.1.22;2.4.1.38;2.4.1.90", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0009897 external side of plasma membrane;GO:0031902 late endosome membrane;GO:1990913 sperm head plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0008584 male gonad development", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9UKF2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UNQ0-1", "uniprot_id": "ABCG2_HUMAN", "mass": 72314.0, "length": 655, "protein_name": "Broad substrate specificity ATP-binding cassette transporter ABCG2", "gene_name": "ABCG2", "organism": "Human", "refseq_name": "broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 2", "refseq_ac": "NP_001244315", "gene_names_uniprotkb": "ABCG2; ABCP; BCRP1; BCRP; MXR", "gene_names_refseq": "ABC15; ABCG2; ABCP; BCRP; BMDP; CD338; CDw338; CDw388; EST157481; GOUT1; MRX; MXR-1; MXR1; MXR; UAQTL1", "protein_names_uniprotkb": "Broad substrate specificity ATP-binding cassette transporter ABCG2; 7.6.2.2; ATP-binding cassette sub-family G member 2; Breast cancer resistance protein; CDw338; Mitoxantrone resistance-associated protein; Placenta-specific ATP-binding cassette transporter; Urate exporter", "protein_names_refseq": "ABC transporter; ATP binding cassette subfamily G member 2 (Junior blood group); ATP-binding cassette transporter G2; ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group); ATPbinding cassette transporter ABCG2; breast cancer resistance protein; broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 1 (Junior blood group); broad substrate specificity ATP-binding cassette transporter ABCG2 isoform 2; mitoxantrone resistance-associated protein; multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2; placenta specific MDR protein; placenta-specific ATP-binding cassette transporter; urate exporter", "tax_id": 9606, "disease": "secondary hyperparathyroidism (Disease Ontology:DOID:12466); gout (Disease Ontology:DOID:13189); erythropoietic protoporphyria (Disease Ontology:DOID:13270); status epilepticus (Disease Ontology:DOID:1824); hyperuricemia (Disease Ontology:DOID:1920); breast carcinoma (Disease Ontology:DOID:3459); toxic encephalopathy (Disease Ontology:DOID:3602); renal cell carcinoma (Disease Ontology:DOID:4450); B-cell lymphoma (Disease Ontology:DOID:707); chronic myeloid leukemia (Disease Ontology:DOID:8552); acute megakaryocytic leukemia (Disease Ontology:DOID:8761); acute myeloid leukemia (Disease Ontology:DOID:9119); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:9429); (R-HSA-1660661); (R-HSA-189451); (R-HSA-189483); (R-HSA-2161517); (R-HSA-917937); (R-HSA-9725554); (R-HSA-9753281); (R-HSA-9793528); (R-HSA-9818032)", "pathway_count": 10, "publication_count": 263, "publication_id_list": "10421658;10597293;10620517;10644574;10706561;10722674;10741631;10751414;10802064;10947957;11023036;11032836;11032841;11134001;11175906;11306452;11323407;11397817;11533706;1157293;11714888;11877335;11912245;11937514;12067728;12111378;12453412;12473676;12474143;12477054;12479221;12504026;12544509;12624109;12682043;12773194;12958161;14576842;14685229;14685263;14976195;15001581;15044468;15063729;15140226;15201052;15234001;15235026;15245331;15328338;15337768;15531878;15537541;15556625;15618737;15670731;15675955;15716365;15743976;15769853;15780751;15807535;15832500;15838659;15863660;15901800;16100120;16118219;16121195;16143108;16176984;16258391;16274220;16297201;16377569;16407072;16510471;16571669;16602760;16696573;16702730;16793762;16895911;17023427;17050692;17274666;17330888;17331073;17355976;17437964;17449912;17494054;17591919;17627974;17639028;17686774;17709369;17924658;17982138;18056989;18165232;18165233;18184806;18194661;18200507;18232020;18357469;18381565;1864287;18834626;19005213;19141712;19233134;1939222;19416851;19463;1946430;19506037;19506252;19762596;19762597;19842618;19909340;19924134;20061445;20068231;20103563;20110355;20159988;20182505;20190787;20332504;20368174;20550936;20682644;20705604;2154449;21620961;21666065;21712391;21824501;21930826;22132962;22232210;22246505;22246507;22349737;22354288;22406294;22517924;22735594;22823425;22841915;22970244;23065526;23180825;23189181;23283814;23467411;23545524;23602659;23615448;23629652;23667609;23682772;23754960;24312054;24569996;24782409;24794495;24913236;25349122;2573352;25788259;26049587;26067475;26340985;26634205;26768311;26992070;27862975;28112439;28505497;28554189;28575652;28623970;29440914;29557506;29563527;29610494;30405239;30429286;30484775;30833945;30905808;31003562;31004787;31154438;31254042;31323489;31399284;3158274;31771235;31848261;31895563;32472168;32938616;33592498;33912179;3395122;33968037;34087483;34171305;34357683;35051231;35409383;36010968;36215666;36749388;36902339;36907437;37224812;37390971;3805019;38181789;38426604;38442133;38451012;38542090;38791198;39337371;41018975;4339164;4817756;4980931;666752;6822570;6950087;70646;7354069;7372607;7469630;7592565;7983023;8041788;8078902;8159699;8383921;8644733;8695634;8771201;8813074;9024171;9080;9177788;9188692;9283689;9312549;9363775;9850061;9861027;9878253;9892175", "class_list": "", "function": "ABCG2 Expression as a Potential Survival Predictor in Human Gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; ABCG2 Mediates Resistance to the Dual EGFR and PI3K Inhibitor MTX-211 in Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; ABCG2 polymorphisms and susceptibility to ARV-associated hepatotoxicity., [RefSeq, PubMed]; ABCG2 transporter reduces protein aggregation in cigarette smoke condensate-exposed A549 lung cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Adipocyte-rich microenvironment promotes chemoresistance via upregulation of peroxisome proliferator-activated receptor gamma/ABCG2 in epithelial ovarian cancer., [RefSeq, PubMed]; Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes a wide variety of physiological compounds, dietary toxins and xenobiotics from cells (PubMed:11306452, PubMed:12958161, PubMed:19506252, PubMed:20705604, PubMed:28554189, PubMed:30405239, PubMed:31003562). Involved in porphyrin homeostasis, mediating the export of protoporphyrin IX (PPIX) from both mitochondria to cytosol and cytosol to extracellular space, it also functions in the cellular export of heme (PubMed:20705604, PubMed:23189181). Also mediates the efflux of sphingosine-1-P from cells (PubMed:20110355). Acts as a urate exporter functioning in both renal and extrarenal urate excretion (PubMed:19506252, PubMed:20368174, PubMed:22132962, PubMed:31003562, PubMed:36749388). In kidney, it also functions as a physiological exporter of the uremic toxin indoxyl sulfate (By similarity). Also involved in the excretion of steroids like estrone 3-sulfate/E1S, 3beta-sulfooxy-androst-5-en-17-one/DHEAS, and other sulfate conjugates (PubMed:12682043, PubMed:28554189, PubMed:30405239). Mediates the secretion of the vitamins riboflavin and biotin into milk (By similarity). Involved in the excretion of the riboflavin-derived compound lumichrome into the intestinal lumen and in its secretion into milk (PubMed:39337371). Extrudes pheophorbide a, a phototoxic porphyrin catabolite of chlorophyll, reducing its bioavailability (By similarity). Plays an important role in the exclusion of xenobiotics from the brain (Probable). It confers to cells a resistance to multiple drugs and other xenobiotics including mitoxantrone, pheophorbide, camptothecin, methotrexate, azidothymidine, and the anthracyclines daunorubicin and doxorubicin, through the control of their efflux (PubMed:11306452, PubMed:12477054, PubMed:15670731, PubMed:18056989, PubMed:31254042). In placenta, it limits the penetration of drugs from the maternal plasma into the fetus (By similarity). May play a role in early stem cell self-renewal by blocking differentiation (By similarity). In inflammatory macrophages, exports itaconate from the cytosol to the extracellular compartment and limits the activation of TFEB-dependent lysosome biogenesis involved in antibacterial innate immune response., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The membrane-associated protein encoded by this gene is included in 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 White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 32, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A1W3;A8K1T5;O95374;Q4W5I3;Q53ZQ1;Q569L4;Q5YLG4;Q86V64;Q8IX16;Q96LD6;Q96TA8;Q9BY73;Q9NUS0", "ec_number_list": "7.6.2.2;7.6.2.-;7.6.2.3;2.3.1.48;2.3.1.-;7.6.2.5", "go_molecular_function": "GO:0042910 xenobiotic transmembrane transporter activity;GO:0005524 ATP binding;GO:0022857 transmembrane transporter activity;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031966 mitochondrial membrane;GO:0045121 membrane raft;GO:0016324 apical plasma membrane;GO:0031526 brush border membrane", "go_biological_process": "GO:0015878 biotin transport;GO:0055085 transmembrane transport;GO:0030148 sphingolipid biosynthetic process;GO:0046415 urate metabolic process;GO:0015711 organic anion transport", "synthesized_glycan_count": 0, "hit_score": 26.7, "record_id": "Q9UNQ0-1", "record_type": "protein" } ]